Incidental Mutation 'R7527:Sptbn4'
| ID |
583061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sptbn4
|
| Ensembl Gene |
ENSMUSG00000011751 |
| Gene Name |
spectrin beta, non-erythrocytic 4 |
| Synonyms |
nmf261, 1700022P15Rik, SpbIV, ROSA62, 5830426A08Rik, dyn, neuroaxonal dystrophy, Spnb4 |
| MMRRC Submission |
045599-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.379)
|
| Stock # |
R7527 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27055808-27147111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27075015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1452
(E1452G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011895]
[ENSMUST00000108362]
[ENSMUST00000108363]
[ENSMUST00000108364]
[ENSMUST00000172269]
|
| AlphaFold |
E9PX29 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000011895
AA Change: E1452G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000011895
Gene: ENSMUSG00000011751
AA Change: E1452G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
45 |
N/A |
INTRINSIC |
|
CH
|
64 |
164 |
8.03e-24 |
SMART |
|
CH
|
183 |
281 |
7.38e-23 |
SMART |
|
Pfam:Spectrin
|
310 |
420 |
1.4e-10 |
PFAM |
|
SPEC
|
433 |
533 |
5.22e-26 |
SMART |
|
SPEC
|
539 |
642 |
7.62e-19 |
SMART |
|
SPEC
|
648 |
766 |
1.31e-8 |
SMART |
|
SPEC
|
772 |
874 |
2.94e-11 |
SMART |
|
SPEC
|
880 |
980 |
1.49e-21 |
SMART |
|
SPEC
|
986 |
1081 |
1.65e0 |
SMART |
|
SPEC
|
1087 |
1192 |
2.82e-13 |
SMART |
|
SPEC
|
1198 |
1298 |
6.59e-14 |
SMART |
|
SPEC
|
1304 |
1403 |
4.08e-19 |
SMART |
|
SPEC
|
1409 |
1508 |
5.92e-7 |
SMART |
|
SPEC
|
1514 |
1614 |
2.45e-22 |
SMART |
|
SPEC
|
1620 |
1720 |
1.45e-24 |
SMART |
|
SPEC
|
1726 |
1827 |
1.86e-22 |
SMART |
|
SPEC
|
1833 |
1935 |
9.54e-11 |
SMART |
|
SPEC
|
1941 |
2041 |
1.35e-19 |
SMART |
|
SPEC
|
2047 |
2297 |
1.06e-8 |
SMART |
|
low complexity region
|
2358 |
2412 |
N/A |
INTRINSIC |
|
PH
|
2416 |
2526 |
1.54e-14 |
SMART |
|
low complexity region
|
2549 |
2560 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108362
AA Change: E132G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103999
Gene: ENSMUSG00000011751
AA Change: E132G
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
1 |
83 |
9.7e-3 |
SMART |
|
SPEC
|
89 |
188 |
5.92e-7 |
SMART |
|
SPEC
|
194 |
294 |
2.45e-22 |
SMART |
|
SPEC
|
300 |
400 |
1.45e-24 |
SMART |
|
SPEC
|
406 |
507 |
1.86e-22 |
SMART |
|
SPEC
|
513 |
615 |
9.54e-11 |
SMART |
|
SPEC
|
621 |
721 |
1.35e-19 |
SMART |
|
SPEC
|
727 |
977 |
1.06e-8 |
SMART |
|
low complexity region
|
1038 |
1092 |
N/A |
INTRINSIC |
|
PH
|
1096 |
1206 |
1.54e-14 |
SMART |
|
low complexity region
|
1229 |
1240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108363
AA Change: E132G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104000
Gene: ENSMUSG00000011751
AA Change: E132G
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
1 |
83 |
9.7e-3 |
SMART |
|
SPEC
|
89 |
188 |
5.92e-7 |
SMART |
|
SPEC
|
194 |
294 |
2.45e-22 |
SMART |
|
SPEC
|
300 |
400 |
1.45e-24 |
SMART |
|
SPEC
|
406 |
507 |
1.86e-22 |
SMART |
|
SPEC
|
513 |
615 |
9.54e-11 |
SMART |
|
SPEC
|
621 |
721 |
1.35e-19 |
SMART |
|
SPEC
|
727 |
977 |
1.06e-8 |
SMART |
|
low complexity region
|
1038 |
1092 |
N/A |
INTRINSIC |
|
PH
|
1096 |
1206 |
1.54e-14 |
SMART |
|
low complexity region
|
1229 |
1240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108364
AA Change: E132G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104001
Gene: ENSMUSG00000011751
AA Change: E132G
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
1 |
83 |
9.7e-3 |
SMART |
|
SPEC
|
89 |
188 |
5.92e-7 |
SMART |
|
SPEC
|
194 |
294 |
2.45e-22 |
SMART |
|
SPEC
|
300 |
400 |
1.45e-24 |
SMART |
|
SPEC
|
406 |
507 |
1.86e-22 |
SMART |
|
SPEC
|
513 |
615 |
9.54e-11 |
SMART |
|
SPEC
|
621 |
721 |
1.35e-19 |
SMART |
|
SPEC
|
727 |
977 |
1.06e-8 |
SMART |
|
low complexity region
|
1038 |
1092 |
N/A |
INTRINSIC |
|
PH
|
1096 |
1206 |
1.54e-14 |
SMART |
|
low complexity region
|
1229 |
1240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172269
AA Change: E1447G
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132807
Gene: ENSMUSG00000011751
AA Change: E1447G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
45 |
N/A |
INTRINSIC |
|
CH
|
64 |
164 |
8.03e-24 |
SMART |
|
CH
|
183 |
281 |
7.38e-23 |
SMART |
|
Pfam:Spectrin
|
310 |
420 |
1.9e-10 |
PFAM |
|
SPEC
|
433 |
533 |
5.22e-26 |
SMART |
|
SPEC
|
539 |
637 |
3.45e-17 |
SMART |
|
SPEC
|
643 |
761 |
1.31e-8 |
SMART |
|
SPEC
|
767 |
869 |
2.94e-11 |
SMART |
|
SPEC
|
875 |
975 |
1.49e-21 |
SMART |
|
SPEC
|
981 |
1076 |
1.65e0 |
SMART |
|
SPEC
|
1082 |
1187 |
2.82e-13 |
SMART |
|
SPEC
|
1193 |
1293 |
6.59e-14 |
SMART |
|
SPEC
|
1299 |
1398 |
4.08e-19 |
SMART |
|
SPEC
|
1404 |
1503 |
5.92e-7 |
SMART |
|
SPEC
|
1509 |
1609 |
2.45e-22 |
SMART |
|
SPEC
|
1615 |
1715 |
1.45e-24 |
SMART |
|
SPEC
|
1721 |
1822 |
1.86e-22 |
SMART |
|
SPEC
|
1828 |
1930 |
9.54e-11 |
SMART |
|
SPEC
|
1936 |
2036 |
1.35e-19 |
SMART |
|
SPEC
|
2042 |
2292 |
1.06e-8 |
SMART |
|
low complexity region
|
2352 |
2406 |
N/A |
INTRINSIC |
|
PH
|
2410 |
2520 |
1.54e-14 |
SMART |
|
low complexity region
|
2543 |
2554 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,218,556 (GRCm39) |
|
probably null |
Het |
| Abcc10 |
A |
G |
17: 46,623,830 (GRCm39) |
S810P |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,132,239 (GRCm39) |
H138R |
possibly damaging |
Het |
| Adcyap1 |
T |
A |
17: 93,510,257 (GRCm39) |
L95* |
probably null |
Het |
| Adgrl4 |
C |
A |
3: 151,144,887 (GRCm39) |
T12N |
probably benign |
Het |
| Alpi |
T |
C |
1: 87,026,677 (GRCm39) |
N438S |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,687,483 (GRCm39) |
N979D |
probably benign |
Het |
| Ankrd60 |
A |
C |
2: 173,419,966 (GRCm39) |
S57A |
probably benign |
Het |
| Arfgef3 |
G |
A |
10: 18,522,377 (GRCm39) |
P550S |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,422,202 (GRCm39) |
D390V |
probably damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,248,208 (GRCm39) |
V374A |
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,014,172 (GRCm39) |
F201I |
probably benign |
Het |
| Cdh15 |
A |
T |
8: 123,588,865 (GRCm39) |
D313V |
probably damaging |
Het |
| Cfap157 |
A |
G |
2: 32,669,890 (GRCm39) |
L231P |
possibly damaging |
Het |
| Chl1 |
T |
G |
6: 103,688,162 (GRCm39) |
C1001G |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,948,770 (GRCm39) |
H360R |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,261,732 (GRCm39) |
A922T |
probably damaging |
Het |
| Fancg |
C |
T |
4: 43,010,116 (GRCm39) |
|
probably benign |
Het |
| Glt8d2 |
A |
T |
10: 82,488,403 (GRCm39) |
S356T |
unknown |
Het |
| Gm19410 |
T |
A |
8: 36,269,386 (GRCm39) |
C1074S |
probably damaging |
Het |
| Gm9195 |
C |
T |
14: 72,711,310 (GRCm39) |
C376Y |
possibly damaging |
Het |
| Gnai3 |
G |
A |
3: 108,025,693 (GRCm39) |
R129C |
|
Het |
| Golph3 |
T |
G |
15: 12,343,404 (GRCm39) |
|
probably null |
Het |
| H2bc18 |
T |
A |
3: 96,177,186 (GRCm39) |
V40D |
possibly damaging |
Het |
| Hk1 |
C |
A |
10: 62,140,561 (GRCm39) |
V105F |
probably damaging |
Het |
| Hoxd8 |
A |
G |
2: 74,536,001 (GRCm39) |
Y37C |
probably damaging |
Het |
| Inava |
T |
A |
1: 136,142,122 (GRCm39) |
D659V |
possibly damaging |
Het |
| Jun |
G |
T |
4: 94,939,234 (GRCm39) |
P92Q |
probably damaging |
Het |
| Klhl14 |
C |
T |
18: 21,784,597 (GRCm39) |
V277I |
probably damaging |
Het |
| Lrrc51 |
C |
T |
7: 101,569,843 (GRCm39) |
|
probably null |
Het |
| Man2c1 |
T |
A |
9: 57,045,100 (GRCm39) |
Y429* |
probably null |
Het |
| Myo18a |
T |
A |
11: 77,734,406 (GRCm39) |
C1476S |
probably benign |
Het |
| Neb |
G |
C |
2: 52,066,635 (GRCm39) |
T6155R |
probably damaging |
Het |
| Niban3 |
C |
G |
8: 72,059,342 (GRCm39) |
C568W |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,326,422 (GRCm39) |
E443G |
possibly damaging |
Het |
| Or10j5 |
C |
T |
1: 172,784,511 (GRCm39) |
H50Y |
probably benign |
Het |
| Or4c15 |
A |
G |
2: 88,760,434 (GRCm39) |
V75A |
probably benign |
Het |
| Or5d37 |
A |
T |
2: 87,923,954 (GRCm39) |
C109S |
probably damaging |
Het |
| Or7g32 |
A |
G |
9: 19,408,685 (GRCm39) |
I214V |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,856,603 (GRCm39) |
S515P |
probably damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,367,177 (GRCm39) |
L84P |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,736,273 (GRCm39) |
I538T |
probably damaging |
Het |
| Plxnb1 |
G |
T |
9: 108,929,929 (GRCm39) |
V262L |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,057,804 (GRCm39) |
S1320P |
unknown |
Het |
| Pramel47 |
A |
G |
5: 95,490,409 (GRCm39) |
D347G |
probably benign |
Het |
| Prap1 |
G |
A |
7: 139,676,120 (GRCm39) |
|
probably null |
Het |
| Psg23 |
A |
T |
7: 18,348,699 (GRCm39) |
V36D |
probably damaging |
Het |
| Ptgr1 |
A |
G |
4: 58,982,887 (GRCm39) |
Y49H |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,087,104 (GRCm39) |
T528A |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,525,787 (GRCm39) |
S541P |
unknown |
Het |
| Rnf17 |
A |
T |
14: 56,753,895 (GRCm39) |
D1534V |
probably damaging |
Het |
| Sdk1 |
T |
G |
5: 141,778,731 (GRCm39) |
S236R |
possibly damaging |
Het |
| Sepsecs |
A |
G |
5: 52,801,393 (GRCm39) |
M423T |
possibly damaging |
Het |
| Serpina1f |
T |
G |
12: 103,658,167 (GRCm39) |
Y246S |
probably benign |
Het |
| Sftpb |
T |
A |
6: 72,282,048 (GRCm39) |
V46E |
possibly damaging |
Het |
| Slc4a1ap |
G |
A |
5: 31,691,475 (GRCm39) |
V424I |
probably benign |
Het |
| Slc5a4b |
G |
A |
10: 75,946,742 (GRCm39) |
T10M |
probably benign |
Het |
| Slc6a16 |
T |
C |
7: 44,922,063 (GRCm39) |
W664R |
probably damaging |
Het |
| Snx8 |
T |
C |
5: 140,341,827 (GRCm39) |
E138G |
probably benign |
Het |
| Sox6 |
T |
C |
7: 115,376,408 (GRCm39) |
E108G |
probably benign |
Het |
| Sptan1 |
A |
T |
2: 29,870,209 (GRCm39) |
I120F |
probably damaging |
Het |
| Stac2 |
T |
A |
11: 97,930,452 (GRCm39) |
E372V |
probably damaging |
Het |
| Taco1 |
A |
T |
11: 105,962,795 (GRCm39) |
I161F |
probably damaging |
Het |
| Taf1d |
C |
A |
9: 15,220,133 (GRCm39) |
D127E |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 36,097,803 (GRCm39) |
N482Y |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,729,635 (GRCm39) |
V1457A |
possibly damaging |
Het |
| Tmem200c |
A |
T |
17: 69,148,671 (GRCm39) |
H418L |
probably benign |
Het |
| Tmem81 |
T |
C |
1: 132,435,884 (GRCm39) |
V230A |
probably benign |
Het |
| Tnn |
C |
T |
1: 159,946,074 (GRCm39) |
V915I |
possibly damaging |
Het |
| Trav8d-2 |
A |
T |
14: 53,280,154 (GRCm39) |
Y48F |
possibly damaging |
Het |
| Trpm2 |
T |
C |
10: 77,801,894 (GRCm39) |
N57S |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,598,383 (GRCm39) |
T19510M |
probably damaging |
Het |
| Ubl7 |
T |
C |
9: 57,820,167 (GRCm39) |
L73P |
unknown |
Het |
| Uso1 |
A |
G |
5: 92,347,734 (GRCm39) |
D845G |
possibly damaging |
Het |
| Utrn |
G |
T |
10: 12,277,126 (GRCm39) |
P3397Q |
possibly damaging |
Het |
| Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sptbn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Sptbn4
|
APN |
7 |
27,068,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00468:Sptbn4
|
APN |
7 |
27,117,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01396:Sptbn4
|
APN |
7 |
27,114,196 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01700:Sptbn4
|
APN |
7 |
27,103,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01878:Sptbn4
|
APN |
7 |
27,063,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02066:Sptbn4
|
APN |
7 |
27,063,940 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02116:Sptbn4
|
APN |
7 |
27,063,782 (GRCm39) |
missense |
probably benign |
|
|
IGL02226:Sptbn4
|
APN |
7 |
27,065,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02333:Sptbn4
|
APN |
7 |
27,063,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02337:Sptbn4
|
APN |
7 |
27,127,672 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02451:Sptbn4
|
APN |
7 |
27,065,014 (GRCm39) |
missense |
probably null |
0.15 |
|
IGL02487:Sptbn4
|
APN |
7 |
27,118,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02530:Sptbn4
|
APN |
7 |
27,090,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02724:Sptbn4
|
APN |
7 |
27,067,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02850:Sptbn4
|
APN |
7 |
27,126,258 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02851:Sptbn4
|
APN |
7 |
27,126,258 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02869:Sptbn4
|
APN |
7 |
27,093,573 (GRCm39) |
splice site |
probably benign |
|
|
IGL02961:Sptbn4
|
APN |
7 |
27,097,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU22:Sptbn4
|
UTSW |
7 |
27,056,812 (GRCm39) |
nonsense |
probably null |
|
|
R0194:Sptbn4
|
UTSW |
7 |
27,104,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0328:Sptbn4
|
UTSW |
7 |
27,063,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Sptbn4
|
UTSW |
7 |
27,059,161 (GRCm39) |
splice site |
probably benign |
|
|
R0510:Sptbn4
|
UTSW |
7 |
27,060,991 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0550:Sptbn4
|
UTSW |
7 |
27,063,803 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0557:Sptbn4
|
UTSW |
7 |
27,107,753 (GRCm39) |
nonsense |
probably null |
|
|
R1336:Sptbn4
|
UTSW |
7 |
27,117,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1494:Sptbn4
|
UTSW |
7 |
27,133,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1630:Sptbn4
|
UTSW |
7 |
27,118,164 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1803:Sptbn4
|
UTSW |
7 |
27,118,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Sptbn4
|
UTSW |
7 |
27,066,071 (GRCm39) |
missense |
probably null |
0.96 |
|
R1906:Sptbn4
|
UTSW |
7 |
27,090,856 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1924:Sptbn4
|
UTSW |
7 |
27,106,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1951:Sptbn4
|
UTSW |
7 |
27,065,868 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1989:Sptbn4
|
UTSW |
7 |
27,067,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Sptbn4
|
UTSW |
7 |
27,123,235 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2005:Sptbn4
|
UTSW |
7 |
27,065,844 (GRCm39) |
nonsense |
probably null |
|
|
R2083:Sptbn4
|
UTSW |
7 |
27,127,681 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2176:Sptbn4
|
UTSW |
7 |
27,063,587 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2211:Sptbn4
|
UTSW |
7 |
27,067,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2262:Sptbn4
|
UTSW |
7 |
27,133,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2263:Sptbn4
|
UTSW |
7 |
27,133,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2374:Sptbn4
|
UTSW |
7 |
27,059,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2407:Sptbn4
|
UTSW |
7 |
27,117,523 (GRCm39) |
nonsense |
probably null |
|
|
R4115:Sptbn4
|
UTSW |
7 |
27,090,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Sptbn4
|
UTSW |
7 |
27,090,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4392:Sptbn4
|
UTSW |
7 |
27,117,896 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4426:Sptbn4
|
UTSW |
7 |
27,123,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4535:Sptbn4
|
UTSW |
7 |
27,067,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Sptbn4
|
UTSW |
7 |
27,066,160 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4684:Sptbn4
|
UTSW |
7 |
27,063,844 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4707:Sptbn4
|
UTSW |
7 |
27,116,431 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4876:Sptbn4
|
UTSW |
7 |
27,071,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5091:Sptbn4
|
UTSW |
7 |
27,068,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5371:Sptbn4
|
UTSW |
7 |
27,059,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5790:Sptbn4
|
UTSW |
7 |
27,065,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5857:Sptbn4
|
UTSW |
7 |
27,118,138 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5908:Sptbn4
|
UTSW |
7 |
27,103,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5980:Sptbn4
|
UTSW |
7 |
27,071,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6005:Sptbn4
|
UTSW |
7 |
27,118,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6013:Sptbn4
|
UTSW |
7 |
27,063,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6037:Sptbn4
|
UTSW |
7 |
27,063,595 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6037:Sptbn4
|
UTSW |
7 |
27,063,595 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6129:Sptbn4
|
UTSW |
7 |
27,059,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6146:Sptbn4
|
UTSW |
7 |
27,064,012 (GRCm39) |
nonsense |
probably null |
|
|
R6762:Sptbn4
|
UTSW |
7 |
27,093,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6897:Sptbn4
|
UTSW |
7 |
27,071,375 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7178:Sptbn4
|
UTSW |
7 |
27,117,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7212:Sptbn4
|
UTSW |
7 |
27,116,210 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7465:Sptbn4
|
UTSW |
7 |
27,066,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7471:Sptbn4
|
UTSW |
7 |
27,108,439 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7510:Sptbn4
|
UTSW |
7 |
27,127,693 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7528:Sptbn4
|
UTSW |
7 |
27,141,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7572:Sptbn4
|
UTSW |
7 |
27,071,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7649:Sptbn4
|
UTSW |
7 |
27,061,002 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7714:Sptbn4
|
UTSW |
7 |
27,063,761 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7780:Sptbn4
|
UTSW |
7 |
27,061,059 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7854:Sptbn4
|
UTSW |
7 |
27,061,835 (GRCm39) |
missense |
probably benign |
|
|
R8002:Sptbn4
|
UTSW |
7 |
27,117,417 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8058:Sptbn4
|
UTSW |
7 |
27,063,694 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8181:Sptbn4
|
UTSW |
7 |
27,074,808 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8195:Sptbn4
|
UTSW |
7 |
27,108,314 (GRCm39) |
nonsense |
probably null |
|
|
R8353:Sptbn4
|
UTSW |
7 |
27,103,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8392:Sptbn4
|
UTSW |
7 |
27,071,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Sptbn4
|
UTSW |
7 |
27,103,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8815:Sptbn4
|
UTSW |
7 |
27,106,657 (GRCm39) |
nonsense |
probably null |
|
|
R8818:Sptbn4
|
UTSW |
7 |
27,063,592 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9171:Sptbn4
|
UTSW |
7 |
27,141,844 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9259:Sptbn4
|
UTSW |
7 |
27,067,124 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9477:Sptbn4
|
UTSW |
7 |
27,132,624 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9564:Sptbn4
|
UTSW |
7 |
27,117,504 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9572:Sptbn4
|
UTSW |
7 |
27,066,095 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9623:Sptbn4
|
UTSW |
7 |
27,107,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9715:Sptbn4
|
UTSW |
7 |
27,091,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Sptbn4
|
UTSW |
7 |
27,107,993 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9790:Sptbn4
|
UTSW |
7 |
27,071,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9791:Sptbn4
|
UTSW |
7 |
27,071,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9798:Sptbn4
|
UTSW |
7 |
27,056,717 (GRCm39) |
makesense |
probably null |
|
|
X0020:Sptbn4
|
UTSW |
7 |
27,102,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0066:Sptbn4
|
UTSW |
7 |
27,056,736 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Sptbn4
|
UTSW |
7 |
27,059,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Sptbn4
|
UTSW |
7 |
27,108,527 (GRCm39) |
missense |
probably benign |
0.41 |
|
Z1177:Sptbn4
|
UTSW |
7 |
27,104,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGGATGCCAGCAACAAG -3'
(R):5'- CTGATTGACAAGGGAGGTCTAC -3'
Sequencing Primer
(F):5'- TGCAAAGGCTCCAGCAG -3'
(R):5'- AGTGCCTGGTCACCATAA -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation