Incidental Mutation 'R7585:Sptan1'
| ID |
587013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptan1
|
| Ensembl Gene |
ENSMUSG00000057738 |
| Gene Name |
spectrin alpha, non-erythrocytic 1 |
| Synonyms |
alpha-fodrin, alphaII-spectrin, Spna2, 2610027H02Rik, Spna-2 |
| MMRRC Submission |
045635-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7585 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
29855572-29921463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29890068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1050
(D1050G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046257]
[ENSMUST00000095083]
[ENSMUST00000100225]
[ENSMUST00000113717]
[ENSMUST00000113719]
[ENSMUST00000129241]
|
| AlphaFold |
P16546 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046257
AA Change: D1050G
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000047792
Gene: ENSMUSG00000057738
AA Change: D1050G
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
47 |
146 |
2.1e-30 |
SMART |
|
SPEC
|
152 |
252 |
2.6e-35 |
SMART |
|
SPEC
|
258 |
358 |
4.93e-36 |
SMART |
|
SPEC
|
364 |
464 |
1.08e-27 |
SMART |
|
SPEC
|
470 |
570 |
9.01e-30 |
SMART |
|
SPEC
|
576 |
675 |
3.52e-32 |
SMART |
|
SPEC
|
681 |
781 |
2.15e-36 |
SMART |
|
SPEC
|
787 |
887 |
2.45e-40 |
SMART |
|
SPEC
|
893 |
1068 |
1.18e-24 |
SMART |
|
SH3
|
970 |
1025 |
8.24e-18 |
SMART |
|
SPEC
|
1074 |
1210 |
6.52e-27 |
SMART |
|
SPEC
|
1216 |
1316 |
1.44e-37 |
SMART |
|
SPEC
|
1322 |
1422 |
4.43e-29 |
SMART |
|
SPEC
|
1428 |
1528 |
7.54e-32 |
SMART |
|
SPEC
|
1534 |
1635 |
9.65e-30 |
SMART |
|
SPEC
|
1641 |
1741 |
2.32e-32 |
SMART |
|
SPEC
|
1747 |
1847 |
6.98e-36 |
SMART |
|
SPEC
|
1853 |
1953 |
1.53e-32 |
SMART |
|
SPEC
|
1959 |
2060 |
6.23e-24 |
SMART |
|
SPEC
|
2074 |
2174 |
2.08e-11 |
SMART |
|
SPEC
|
2188 |
2289 |
1.07e-4 |
SMART |
|
EFh
|
2307 |
2335 |
5.78e-7 |
SMART |
|
EFh
|
2350 |
2378 |
3.85e-3 |
SMART |
|
efhand_Ca_insen
|
2382 |
2451 |
6.74e-32 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095083
AA Change: D1050G
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092697
Gene: ENSMUSG00000057738
AA Change: D1050G
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
47 |
146 |
2.1e-30 |
SMART |
|
SPEC
|
152 |
252 |
2.6e-35 |
SMART |
|
SPEC
|
258 |
358 |
4.93e-36 |
SMART |
|
SPEC
|
364 |
464 |
1.08e-27 |
SMART |
|
SPEC
|
470 |
570 |
9.01e-30 |
SMART |
|
SPEC
|
576 |
675 |
3.52e-32 |
SMART |
|
SPEC
|
681 |
781 |
2.15e-36 |
SMART |
|
SPEC
|
787 |
887 |
2.45e-40 |
SMART |
|
SPEC
|
893 |
1088 |
1.56e-24 |
SMART |
|
SH3
|
970 |
1025 |
8.24e-18 |
SMART |
|
SPEC
|
1094 |
1230 |
6.52e-27 |
SMART |
|
SPEC
|
1236 |
1336 |
1.44e-37 |
SMART |
|
SPEC
|
1342 |
1442 |
4.43e-29 |
SMART |
|
SPEC
|
1448 |
1548 |
7.54e-32 |
SMART |
|
SPEC
|
1554 |
1655 |
9.65e-30 |
SMART |
|
SPEC
|
1661 |
1761 |
2.32e-32 |
SMART |
|
SPEC
|
1767 |
1867 |
6.98e-36 |
SMART |
|
SPEC
|
1873 |
1973 |
1.53e-32 |
SMART |
|
SPEC
|
1979 |
2080 |
6.23e-24 |
SMART |
|
SPEC
|
2094 |
2194 |
2.08e-11 |
SMART |
|
SPEC
|
2208 |
2309 |
1.07e-4 |
SMART |
|
EFh
|
2327 |
2355 |
5.78e-7 |
SMART |
|
EFh
|
2370 |
2398 |
3.85e-3 |
SMART |
|
efhand_Ca_insen
|
2402 |
2471 |
6.74e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100225
AA Change: D1050G
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000097797
Gene: ENSMUSG00000057738
AA Change: D1050G
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
47 |
146 |
2.1e-30 |
SMART |
|
SPEC
|
152 |
252 |
2.6e-35 |
SMART |
|
SPEC
|
258 |
358 |
4.93e-36 |
SMART |
|
SPEC
|
364 |
464 |
1.08e-27 |
SMART |
|
SPEC
|
470 |
570 |
9.01e-30 |
SMART |
|
SPEC
|
576 |
675 |
3.52e-32 |
SMART |
|
SPEC
|
681 |
781 |
2.15e-36 |
SMART |
|
SPEC
|
787 |
887 |
2.45e-40 |
SMART |
|
SPEC
|
893 |
1088 |
1.56e-24 |
SMART |
|
SH3
|
970 |
1025 |
8.24e-18 |
SMART |
|
SPEC
|
1094 |
1230 |
6.52e-27 |
SMART |
|
SPEC
|
1236 |
1336 |
1.44e-37 |
SMART |
|
SPEC
|
1342 |
1442 |
4.43e-29 |
SMART |
|
SPEC
|
1448 |
1548 |
7.54e-32 |
SMART |
|
SPEC
|
1554 |
1660 |
2.06e-24 |
SMART |
|
SPEC
|
1666 |
1766 |
2.32e-32 |
SMART |
|
SPEC
|
1772 |
1872 |
6.98e-36 |
SMART |
|
SPEC
|
1878 |
1978 |
1.53e-32 |
SMART |
|
SPEC
|
1984 |
2085 |
6.23e-24 |
SMART |
|
SPEC
|
2099 |
2199 |
2.08e-11 |
SMART |
|
SPEC
|
2213 |
2314 |
1.07e-4 |
SMART |
|
EFh
|
2332 |
2360 |
5.78e-7 |
SMART |
|
EFh
|
2375 |
2403 |
3.85e-3 |
SMART |
|
efhand_Ca_insen
|
2407 |
2476 |
6.74e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113717
AA Change: D1050G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109346
Gene: ENSMUSG00000057738
AA Change: D1050G
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
47 |
146 |
2.1e-30 |
SMART |
|
SPEC
|
152 |
252 |
2.6e-35 |
SMART |
|
SPEC
|
258 |
358 |
4.93e-36 |
SMART |
|
SPEC
|
364 |
464 |
1.08e-27 |
SMART |
|
SPEC
|
470 |
570 |
9.01e-30 |
SMART |
|
SPEC
|
576 |
675 |
3.52e-32 |
SMART |
|
SPEC
|
681 |
781 |
2.15e-36 |
SMART |
|
SPEC
|
787 |
887 |
2.45e-40 |
SMART |
|
SPEC
|
893 |
1068 |
1.18e-24 |
SMART |
|
SH3
|
970 |
1025 |
8.24e-18 |
SMART |
|
SPEC
|
1074 |
1210 |
6.52e-27 |
SMART |
|
SPEC
|
1216 |
1316 |
1.44e-37 |
SMART |
|
SPEC
|
1322 |
1422 |
4.43e-29 |
SMART |
|
SPEC
|
1428 |
1528 |
7.54e-32 |
SMART |
|
SPEC
|
1534 |
1640 |
2.06e-24 |
SMART |
|
SPEC
|
1646 |
1746 |
2.32e-32 |
SMART |
|
SPEC
|
1752 |
1852 |
6.98e-36 |
SMART |
|
SPEC
|
1858 |
1958 |
1.53e-32 |
SMART |
|
SPEC
|
1964 |
2065 |
6.23e-24 |
SMART |
|
SPEC
|
2079 |
2179 |
2.08e-11 |
SMART |
|
SPEC
|
2193 |
2294 |
1.07e-4 |
SMART |
|
EFh
|
2312 |
2340 |
5.78e-7 |
SMART |
|
EFh
|
2355 |
2383 |
3.85e-3 |
SMART |
|
efhand_Ca_insen
|
2387 |
2456 |
6.74e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113719
AA Change: D1050G
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000109348
Gene: ENSMUSG00000057738
AA Change: D1050G
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
47 |
146 |
2.1e-30 |
SMART |
|
SPEC
|
152 |
252 |
2.6e-35 |
SMART |
|
SPEC
|
258 |
358 |
4.93e-36 |
SMART |
|
SPEC
|
364 |
464 |
1.08e-27 |
SMART |
|
SPEC
|
470 |
570 |
9.01e-30 |
SMART |
|
SPEC
|
576 |
675 |
3.52e-32 |
SMART |
|
SPEC
|
681 |
781 |
2.15e-36 |
SMART |
|
SPEC
|
787 |
887 |
2.45e-40 |
SMART |
|
SPEC
|
893 |
1068 |
1.18e-24 |
SMART |
|
SH3
|
970 |
1025 |
8.24e-18 |
SMART |
|
SPEC
|
1074 |
1210 |
6.52e-27 |
SMART |
|
SPEC
|
1216 |
1316 |
1.44e-37 |
SMART |
|
SPEC
|
1322 |
1422 |
4.43e-29 |
SMART |
|
SPEC
|
1428 |
1528 |
7.54e-32 |
SMART |
|
SPEC
|
1534 |
1640 |
2.06e-24 |
SMART |
|
SPEC
|
1646 |
1746 |
2.32e-32 |
SMART |
|
SPEC
|
1752 |
1852 |
6.98e-36 |
SMART |
|
SPEC
|
1858 |
1958 |
1.53e-32 |
SMART |
|
SPEC
|
1964 |
2065 |
6.23e-24 |
SMART |
|
SPEC
|
2079 |
2179 |
2.08e-11 |
SMART |
|
SPEC
|
2193 |
2315 |
3.27e0 |
SMART |
|
EFh
|
2333 |
2361 |
5.78e-7 |
SMART |
|
EFh
|
2376 |
2404 |
3.85e-3 |
SMART |
|
efhand_Ca_insen
|
2408 |
2477 |
6.74e-32 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000129241
AA Change: D1050G
|
| SMART Domains |
Protein: ENSMUSP00000121116
Gene: ENSMUSG00000057738
AA Change: D1050G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spectrin
|
1 |
65 |
9.9e-10 |
PFAM |
|
SPEC
|
78 |
178 |
2.08e-11 |
SMART |
|
SPEC
|
192 |
314 |
3.27e0 |
SMART |
|
EFh
|
332 |
360 |
5.78e-7 |
SMART |
|
EFh
|
375 |
403 |
3.85e-3 |
SMART |
|
efhand_Ca_insen
|
407 |
476 |
6.74e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous deletion of the exons encoding the CCC region are normal. Mice homozygous for a gene trap allele exhibit embryonic lethality and abnormal nervous system, heart and craniofacial morphology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(76) : Targeted(1) Gene trapped(75)
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,854,851 (GRCm39) |
T64A |
probably benign |
Het |
| A930009A15Rik |
T |
A |
10: 115,414,230 (GRCm39) |
V52D |
unknown |
Het |
| Aadacl2fm2 |
C |
A |
3: 59,651,143 (GRCm39) |
D88E |
possibly damaging |
Het |
| Acacb |
A |
G |
5: 114,384,073 (GRCm39) |
I2201V |
probably damaging |
Het |
| Aco2 |
A |
C |
15: 81,756,685 (GRCm39) |
|
probably benign |
Het |
| Acod1 |
C |
T |
14: 103,292,177 (GRCm39) |
Q234* |
probably null |
Het |
| Actr6 |
T |
C |
10: 89,561,658 (GRCm39) |
S163G |
probably benign |
Het |
| Agmat |
T |
C |
4: 141,477,056 (GRCm39) |
V154A |
probably benign |
Het |
| Agrn |
T |
C |
4: 156,255,131 (GRCm39) |
N1584S |
probably benign |
Het |
| Alg6 |
A |
T |
4: 99,626,371 (GRCm39) |
S60C |
probably damaging |
Het |
| Ap5s1 |
T |
C |
2: 131,054,482 (GRCm39) |
F98L |
probably damaging |
Het |
| Atp6v1f |
G |
A |
6: 29,467,927 (GRCm39) |
V38I |
possibly damaging |
Het |
| B3gnt3 |
T |
C |
8: 72,145,972 (GRCm39) |
T186A |
probably damaging |
Het |
| Brpf1 |
T |
C |
6: 113,292,007 (GRCm39) |
V351A |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,364,368 (GRCm39) |
S26P |
probably benign |
Het |
| Camta1 |
G |
A |
4: 151,229,287 (GRCm39) |
S515L |
probably damaging |
Het |
| Ccdc122 |
C |
A |
14: 77,329,139 (GRCm39) |
A64E |
probably damaging |
Het |
| Ccdc89 |
C |
A |
7: 90,076,510 (GRCm39) |
T240K |
possibly damaging |
Het |
| Cercam |
T |
C |
2: 29,771,743 (GRCm39) |
L521P |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,076,737 (GRCm39) |
N561S |
probably benign |
Het |
| Clk3 |
T |
C |
9: 57,669,119 (GRCm39) |
E159G |
probably damaging |
Het |
| Cntf |
A |
T |
19: 12,741,587 (GRCm39) |
L91* |
probably null |
Het |
| Cntn4 |
T |
A |
6: 106,466,572 (GRCm39) |
I158N |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,810,888 (GRCm39) |
I194K |
probably damaging |
Het |
| Col22a1 |
T |
A |
15: 71,764,054 (GRCm39) |
D66V |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,485,471 (GRCm39) |
T145A |
possibly damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,069,568 (GRCm39) |
I876V |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,971,819 (GRCm39) |
S1335P |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,402,014 (GRCm39) |
T3392S |
probably benign |
Het |
| Dnal1 |
A |
G |
12: 84,171,267 (GRCm39) |
K21E |
probably benign |
Het |
| Dspp |
T |
C |
5: 104,323,391 (GRCm39) |
V178A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,153,096 (GRCm39) |
D119G |
possibly damaging |
Het |
| Dyrk4 |
T |
A |
6: 126,867,007 (GRCm39) |
I342F |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,425,757 (GRCm39) |
D649G |
probably damaging |
Het |
| Exoc7 |
T |
C |
11: 116,191,124 (GRCm39) |
D259G |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,153,021 (GRCm39) |
V1159A |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,909,558 (GRCm39) |
D2148G |
probably benign |
Het |
| Fdps |
C |
A |
3: 89,001,113 (GRCm39) |
R300L |
probably benign |
Het |
| Gfm2 |
T |
C |
13: 97,315,540 (GRCm39) |
L736P |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,756,301 (GRCm39) |
T475S |
probably damaging |
Het |
| H2-M3 |
T |
G |
17: 37,581,599 (GRCm39) |
L87R |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,343,076 (GRCm39) |
I272F |
probably damaging |
Het |
| Hapln2 |
C |
T |
3: 87,929,980 (GRCm39) |
G299S |
probably damaging |
Het |
| Hdac3 |
A |
T |
18: 38,078,408 (GRCm39) |
I154N |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,352,829 (GRCm39) |
D2105G |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,658 (GRCm39) |
F413S |
probably damaging |
Het |
| Kctd13 |
A |
G |
7: 126,528,458 (GRCm39) |
T78A |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,758,591 (GRCm39) |
D20G |
probably benign |
Het |
| Kif26b |
A |
T |
1: 178,744,061 (GRCm39) |
I1386F |
probably benign |
Het |
| Klc4 |
T |
A |
17: 46,942,810 (GRCm39) |
M585L |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,322,933 (GRCm39) |
Y1139C |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,654,094 (GRCm39) |
I1111N |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,050,807 (GRCm39) |
D648E |
possibly damaging |
Het |
| Mmp2 |
G |
A |
8: 93,563,564 (GRCm39) |
G346D |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,631,377 (GRCm39) |
I75L |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,586,076 (GRCm39) |
V537D |
|
Het |
| Myh2 |
T |
A |
11: 67,070,237 (GRCm39) |
|
probably null |
Het |
| Myrf |
T |
C |
19: 10,194,091 (GRCm39) |
T487A |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,753,050 (GRCm39) |
L312H |
probably damaging |
Het |
| Nop14 |
G |
A |
5: 34,802,124 (GRCm39) |
P560L |
probably damaging |
Het |
| Nufip1 |
C |
G |
14: 76,348,427 (GRCm39) |
P19A |
probably benign |
Het |
| Oosp3 |
G |
T |
19: 11,678,322 (GRCm39) |
M99I |
probably benign |
Het |
| Or14c40 |
T |
C |
7: 86,313,880 (GRCm39) |
*337Q |
probably null |
Het |
| Or4c52 |
A |
T |
2: 89,845,393 (GRCm39) |
I40F |
probably damaging |
Het |
| Or4x13 |
T |
A |
2: 90,231,367 (GRCm39) |
Y121N |
probably damaging |
Het |
| Or51aa5 |
C |
A |
7: 103,167,166 (GRCm39) |
V142L |
possibly damaging |
Het |
| Or51k2 |
A |
G |
7: 103,596,607 (GRCm39) |
N278S |
probably benign |
Het |
| Or52n4b |
C |
A |
7: 108,144,598 (GRCm39) |
P289T |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,419,042 (GRCm39) |
V145A |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,040,307 (GRCm39) |
|
|
Het |
| Panx2 |
A |
G |
15: 88,952,169 (GRCm39) |
K212R |
probably damaging |
Het |
| Paxip1 |
A |
C |
5: 27,977,002 (GRCm39) |
H353Q |
unknown |
Het |
| Pbx4 |
C |
A |
8: 70,285,475 (GRCm39) |
D39E |
probably damaging |
Het |
| Phc2 |
G |
A |
4: 128,604,932 (GRCm39) |
A223T |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,445,608 (GRCm39) |
D21G |
probably benign |
Het |
| Plec |
G |
A |
15: 76,057,632 (GRCm39) |
R4102W |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,884,608 (GRCm39) |
Y774C |
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,630,828 (GRCm39) |
Y1197N |
probably damaging |
Het |
| Psmg4 |
A |
T |
13: 34,347,195 (GRCm39) |
H46L |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,436,084 (GRCm39) |
Y815C |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,346,547 (GRCm39) |
I1426V |
probably benign |
Het |
| Rbm43 |
T |
C |
2: 51,816,763 (GRCm39) |
D68G |
probably benign |
Het |
| Rgs6 |
T |
C |
12: 83,153,644 (GRCm39) |
S360P |
probably damaging |
Het |
| Rp1l1 |
T |
G |
14: 64,267,588 (GRCm39) |
L1058R |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,077,874 (GRCm39) |
S29G |
probably benign |
Het |
| Scube1 |
C |
A |
15: 83,522,988 (GRCm39) |
R284L |
possibly damaging |
Het |
| Serpinb9h |
G |
T |
13: 33,588,299 (GRCm39) |
D295Y |
probably benign |
Het |
| Slc13a3 |
T |
C |
2: 165,272,242 (GRCm39) |
Q267R |
probably benign |
Het |
| Slc49a3 |
T |
C |
5: 108,596,685 (GRCm39) |
T16A |
probably benign |
Het |
| Slc5a1 |
A |
T |
5: 33,318,288 (GRCm39) |
N647I |
probably damaging |
Het |
| Sphk2 |
A |
T |
7: 45,361,006 (GRCm39) |
S333T |
probably benign |
Het |
| Tdo2 |
G |
T |
3: 81,870,065 (GRCm39) |
A269E |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,938,648 (GRCm39) |
C64S |
probably damaging |
Het |
| Trim47 |
T |
A |
11: 115,998,383 (GRCm39) |
E360D |
probably damaging |
Het |
| Trp53i13 |
T |
A |
11: 77,399,129 (GRCm39) |
T374S |
possibly damaging |
Het |
| Try5 |
A |
G |
6: 41,288,748 (GRCm39) |
L157P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,578,176 (GRCm39) |
V24239D |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,773,667 (GRCm39) |
Y2318C |
unknown |
Het |
| Txn1 |
T |
C |
4: 57,945,199 (GRCm39) |
D68G |
possibly damaging |
Het |
| Upf3a |
A |
G |
8: 13,837,418 (GRCm39) |
D121G |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,239 (GRCm39) |
Y747C |
probably damaging |
Het |
| Vmn2r68 |
A |
G |
7: 84,881,587 (GRCm39) |
W498R |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Zp2 |
A |
T |
7: 119,733,167 (GRCm39) |
F591L |
probably damaging |
Het |
|
| Other mutations in Sptan1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00668:Sptan1
|
APN |
2 |
29,883,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00932:Sptan1
|
APN |
2 |
29,905,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00945:Sptan1
|
APN |
2 |
29,890,083 (GRCm39) |
splice site |
probably benign |
|
|
IGL01070:Sptan1
|
APN |
2 |
29,904,185 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01625:Sptan1
|
APN |
2 |
29,916,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01657:Sptan1
|
APN |
2 |
29,908,491 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01795:Sptan1
|
APN |
2 |
29,908,501 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01982:Sptan1
|
APN |
2 |
29,909,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Sptan1
|
APN |
2 |
29,903,725 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02158:Sptan1
|
APN |
2 |
29,920,336 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02370:Sptan1
|
APN |
2 |
29,920,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02507:Sptan1
|
APN |
2 |
29,906,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02552:Sptan1
|
APN |
2 |
29,908,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02690:Sptan1
|
APN |
2 |
29,888,195 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02715:Sptan1
|
APN |
2 |
29,868,588 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02725:Sptan1
|
APN |
2 |
29,886,055 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03033:Sptan1
|
APN |
2 |
29,881,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03304:Sptan1
|
APN |
2 |
29,876,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03405:Sptan1
|
APN |
2 |
29,915,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0058:Sptan1
|
UTSW |
2 |
29,883,708 (GRCm39) |
splice site |
probably null |
|
|
R0058:Sptan1
|
UTSW |
2 |
29,883,708 (GRCm39) |
splice site |
probably null |
|
|
R0066:Sptan1
|
UTSW |
2 |
29,893,679 (GRCm39) |
splice site |
probably benign |
|
|
R0066:Sptan1
|
UTSW |
2 |
29,893,679 (GRCm39) |
splice site |
probably benign |
|
|
R0071:Sptan1
|
UTSW |
2 |
29,893,354 (GRCm39) |
nonsense |
probably null |
|
|
R0071:Sptan1
|
UTSW |
2 |
29,893,354 (GRCm39) |
nonsense |
probably null |
|
|
R0094:Sptan1
|
UTSW |
2 |
29,896,635 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0230:Sptan1
|
UTSW |
2 |
29,900,704 (GRCm39) |
splice site |
probably benign |
|
|
R0242:Sptan1
|
UTSW |
2 |
29,908,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Sptan1
|
UTSW |
2 |
29,908,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0366:Sptan1
|
UTSW |
2 |
29,882,764 (GRCm39) |
splice site |
probably null |
|
|
R0368:Sptan1
|
UTSW |
2 |
29,883,927 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0396:Sptan1
|
UTSW |
2 |
29,881,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0423:Sptan1
|
UTSW |
2 |
29,918,684 (GRCm39) |
missense |
probably null |
|
|
R0448:Sptan1
|
UTSW |
2 |
29,916,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0485:Sptan1
|
UTSW |
2 |
29,903,860 (GRCm39) |
splice site |
probably benign |
|
|
R0580:Sptan1
|
UTSW |
2 |
29,897,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0739:Sptan1
|
UTSW |
2 |
29,903,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Sptan1
|
UTSW |
2 |
29,906,040 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0930:Sptan1
|
UTSW |
2 |
29,906,040 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0961:Sptan1
|
UTSW |
2 |
29,870,075 (GRCm39) |
splice site |
probably null |
|
|
R1352:Sptan1
|
UTSW |
2 |
29,911,199 (GRCm39) |
splice site |
probably benign |
|
|
R1456:Sptan1
|
UTSW |
2 |
29,870,215 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1537:Sptan1
|
UTSW |
2 |
29,916,034 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1542:Sptan1
|
UTSW |
2 |
29,917,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1612:Sptan1
|
UTSW |
2 |
29,893,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1623:Sptan1
|
UTSW |
2 |
29,876,432 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1834:Sptan1
|
UTSW |
2 |
29,882,013 (GRCm39) |
splice site |
probably benign |
|
|
R1879:Sptan1
|
UTSW |
2 |
29,885,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Sptan1
|
UTSW |
2 |
29,910,472 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1914:Sptan1
|
UTSW |
2 |
29,901,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1915:Sptan1
|
UTSW |
2 |
29,901,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2022:Sptan1
|
UTSW |
2 |
29,897,573 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2050:Sptan1
|
UTSW |
2 |
29,892,250 (GRCm39) |
missense |
probably benign |
|
|
R2103:Sptan1
|
UTSW |
2 |
29,920,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2162:Sptan1
|
UTSW |
2 |
29,908,588 (GRCm39) |
splice site |
probably benign |
|
|
R2931:Sptan1
|
UTSW |
2 |
29,908,500 (GRCm39) |
missense |
probably benign |
|
|
R3726:Sptan1
|
UTSW |
2 |
29,908,431 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4170:Sptan1
|
UTSW |
2 |
29,920,037 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4235:Sptan1
|
UTSW |
2 |
29,916,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4378:Sptan1
|
UTSW |
2 |
29,915,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Sptan1
|
UTSW |
2 |
29,919,721 (GRCm39) |
intron |
probably benign |
|
|
R4718:Sptan1
|
UTSW |
2 |
29,921,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Sptan1
|
UTSW |
2 |
29,886,447 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4849:Sptan1
|
UTSW |
2 |
29,901,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5158:Sptan1
|
UTSW |
2 |
29,868,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5180:Sptan1
|
UTSW |
2 |
29,883,736 (GRCm39) |
intron |
probably benign |
|
|
R5181:Sptan1
|
UTSW |
2 |
29,883,736 (GRCm39) |
intron |
probably benign |
|
|
R5383:Sptan1
|
UTSW |
2 |
29,901,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5573:Sptan1
|
UTSW |
2 |
29,876,504 (GRCm39) |
nonsense |
probably null |
|
|
R5592:Sptan1
|
UTSW |
2 |
29,876,731 (GRCm39) |
intron |
probably benign |
|
|
R5639:Sptan1
|
UTSW |
2 |
29,881,005 (GRCm39) |
nonsense |
probably null |
|
|
R5801:Sptan1
|
UTSW |
2 |
29,920,613 (GRCm39) |
splice site |
probably null |
|
|
R5947:Sptan1
|
UTSW |
2 |
29,884,379 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6056:Sptan1
|
UTSW |
2 |
29,886,794 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6090:Sptan1
|
UTSW |
2 |
29,883,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6146:Sptan1
|
UTSW |
2 |
29,894,535 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6254:Sptan1
|
UTSW |
2 |
29,897,561 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6366:Sptan1
|
UTSW |
2 |
29,910,467 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6378:Sptan1
|
UTSW |
2 |
29,908,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6521:Sptan1
|
UTSW |
2 |
29,910,467 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6877:Sptan1
|
UTSW |
2 |
29,920,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7173:Sptan1
|
UTSW |
2 |
29,873,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7248:Sptan1
|
UTSW |
2 |
29,892,311 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7282:Sptan1
|
UTSW |
2 |
29,876,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7527:Sptan1
|
UTSW |
2 |
29,870,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7779:Sptan1
|
UTSW |
2 |
29,911,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8051:Sptan1
|
UTSW |
2 |
29,920,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8055:Sptan1
|
UTSW |
2 |
29,884,351 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8103:Sptan1
|
UTSW |
2 |
29,910,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8283:Sptan1
|
UTSW |
2 |
29,870,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Sptan1
|
UTSW |
2 |
29,916,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Sptan1
|
UTSW |
2 |
29,873,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9126:Sptan1
|
UTSW |
2 |
29,920,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9206:Sptan1
|
UTSW |
2 |
29,920,724 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9273:Sptan1
|
UTSW |
2 |
29,880,977 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0028:Sptan1
|
UTSW |
2 |
29,910,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCAGTGTGAGGTCTCTC -3'
(R):5'- ACCAAGTGAGATTAAGGTACTAGTC -3'
Sequencing Primer
(F):5'- CTTGGGAAAAGTCTCAGCTCTCAG -3'
(R):5'- GGTACTAGTCAAGAATCCGAGCTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation