Incidental Mutation 'IGL01327:Shkbp1'
| ID |
74312 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Shkbp1
|
| Ensembl Gene |
ENSMUSG00000089832 |
| Gene Name |
Sh3kbp1 binding protein 1 |
| Synonyms |
SB1, B930062H15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01327
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
27041558-27055444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27054676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 75
(I75V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003857]
[ENSMUST00000011895]
[ENSMUST00000108362]
[ENSMUST00000108363]
[ENSMUST00000108364]
[ENSMUST00000172269]
|
| AlphaFold |
Q6P7W2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003857
AA Change: I75V
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: I75V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
19 |
119 |
1.65e-16 |
SMART |
|
low complexity region
|
183 |
194 |
N/A |
INTRINSIC |
|
Blast:WD40
|
196 |
271 |
1e-21 |
BLAST |
|
WD40
|
277 |
313 |
1.9e2 |
SMART |
|
WD40
|
419 |
457 |
3.45e-1 |
SMART |
|
WD40
|
527 |
577 |
3.68e1 |
SMART |
|
low complexity region
|
612 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011895
|
| SMART Domains |
Protein: ENSMUSP00000011895
Gene: ENSMUSG00000011751
| 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 benign
Transcript: ENSMUST00000108362
|
| SMART Domains |
Protein: ENSMUSP00000103999
Gene: ENSMUSG00000011751
| 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 benign
Transcript: ENSMUST00000108363
|
| SMART Domains |
Protein: ENSMUSP00000104000
Gene: ENSMUSG00000011751
| 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 benign
Transcript: ENSMUST00000108364
|
| SMART Domains |
Protein: ENSMUSP00000104001
Gene: ENSMUSG00000011751
| 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 |
noncoding transcript
Transcript: ENSMUST00000123190
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138449
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172269
|
| SMART Domains |
Protein: ENSMUSP00000132807
Gene: ENSMUSG00000011751
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
A |
4: 148,029,521 (GRCm39) |
V497E |
probably damaging |
Het |
| Adcy7 |
T |
G |
8: 89,045,418 (GRCm39) |
|
probably benign |
Het |
| Aldh1a2 |
T |
A |
9: 71,193,248 (GRCm39) |
F486I |
possibly damaging |
Het |
| Alox12 |
T |
A |
11: 70,145,375 (GRCm39) |
H66L |
probably benign |
Het |
| Apoh |
T |
G |
11: 108,288,187 (GRCm39) |
Y102D |
probably damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,401 (GRCm39) |
V43A |
possibly damaging |
Het |
| Atf6 |
A |
G |
1: 170,616,175 (GRCm39) |
|
probably null |
Het |
| Atp4a |
T |
A |
7: 30,412,675 (GRCm39) |
I127N |
possibly damaging |
Het |
| AY358078 |
T |
A |
14: 52,043,166 (GRCm39) |
|
probably benign |
Het |
| Baat |
T |
G |
4: 49,490,338 (GRCm39) |
K249Q |
probably damaging |
Het |
| Brat1 |
C |
T |
5: 140,703,963 (GRCm39) |
Q739* |
probably null |
Het |
| C8g |
A |
G |
2: 25,389,089 (GRCm39) |
F165L |
probably damaging |
Het |
| Cel |
T |
G |
2: 28,447,967 (GRCm39) |
D353A |
possibly damaging |
Het |
| Col6a1 |
G |
T |
10: 76,546,813 (GRCm39) |
T803K |
unknown |
Het |
| Cpxm1 |
A |
G |
2: 130,238,277 (GRCm39) |
L95P |
probably benign |
Het |
| Ctsr |
A |
G |
13: 61,310,489 (GRCm39) |
|
probably benign |
Het |
| Cyth1 |
A |
G |
11: 118,084,439 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
A |
T |
12: 110,583,126 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
C |
T |
11: 101,094,262 (GRCm39) |
C407Y |
probably damaging |
Het |
| Fam243 |
T |
C |
16: 92,117,661 (GRCm39) |
Y209C |
probably benign |
Het |
| Gm3696 |
A |
T |
14: 18,435,903 (GRCm39) |
W38R |
probably benign |
Het |
| Gm9611 |
T |
C |
14: 42,116,622 (GRCm39) |
T39A |
possibly damaging |
Het |
| Gnpat |
T |
A |
8: 125,605,372 (GRCm39) |
L287H |
probably damaging |
Het |
| Golm1 |
G |
T |
13: 59,792,958 (GRCm39) |
N182K |
possibly damaging |
Het |
| Hdac6 |
T |
C |
X: 7,798,013 (GRCm39) |
M899V |
probably benign |
Het |
| Hsf3 |
T |
A |
X: 95,358,578 (GRCm39) |
M272L |
probably benign |
Het |
| Kif19a |
C |
T |
11: 114,672,625 (GRCm39) |
|
probably benign |
Het |
| Lcn2 |
T |
G |
2: 32,276,030 (GRCm39) |
Y100S |
possibly damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,131 (GRCm39) |
S180R |
probably damaging |
Het |
| Ly6h |
A |
G |
15: 75,436,948 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,403,705 (GRCm39) |
N705D |
probably benign |
Het |
| Mst1r |
C |
T |
9: 107,785,043 (GRCm39) |
P234S |
probably benign |
Het |
| Msto1 |
T |
A |
3: 88,817,939 (GRCm39) |
|
probably null |
Het |
| Myo5a |
T |
A |
9: 75,094,820 (GRCm39) |
|
probably benign |
Het |
| Nipa1 |
T |
C |
7: 55,629,409 (GRCm39) |
I235V |
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,362,228 (GRCm39) |
V399A |
probably benign |
Het |
| Or1d2 |
T |
A |
11: 74,255,738 (GRCm39) |
M81K |
possibly damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,377 (GRCm39) |
N93S |
probably benign |
Het |
| Pih1d1 |
T |
C |
7: 44,809,399 (GRCm39) |
S289P |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,905,508 (GRCm39) |
N1596D |
probably benign |
Het |
| Psmb6 |
T |
A |
11: 70,417,412 (GRCm39) |
S114R |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,457,854 (GRCm39) |
Q289K |
probably damaging |
Het |
| Slc24a3 |
T |
A |
2: 145,444,478 (GRCm39) |
I284N |
probably benign |
Het |
| Slc44a3 |
C |
T |
3: 121,320,842 (GRCm39) |
G53D |
probably damaging |
Het |
| Slc9a4 |
A |
C |
1: 40,668,565 (GRCm39) |
D736A |
probably benign |
Het |
| Stra6 |
A |
G |
9: 58,059,854 (GRCm39) |
D605G |
probably benign |
Het |
| Tas2r126 |
T |
A |
6: 42,411,684 (GRCm39) |
H72Q |
probably benign |
Het |
| Tbrg1 |
C |
T |
9: 37,564,408 (GRCm39) |
R166Q |
probably benign |
Het |
| Thumpd1 |
C |
T |
7: 119,319,925 (GRCm39) |
G14R |
probably benign |
Het |
| Ticrr |
C |
T |
7: 79,344,209 (GRCm39) |
T1358I |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,184,340 (GRCm39) |
N518K |
probably benign |
Het |
| Trpm4 |
C |
A |
7: 44,964,497 (GRCm39) |
W533C |
probably damaging |
Het |
| Tsen54 |
T |
C |
11: 115,712,538 (GRCm39) |
Y119H |
possibly damaging |
Het |
| Tulp3 |
G |
A |
6: 128,304,597 (GRCm39) |
T219M |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,376,160 (GRCm39) |
L1000S |
possibly damaging |
Het |
| Vps16 |
A |
T |
2: 130,279,616 (GRCm39) |
Y43F |
probably benign |
Het |
| Vsig1 |
T |
A |
X: 139,838,429 (GRCm39) |
V283E |
possibly damaging |
Het |
|
| Other mutations in Shkbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01469:Shkbp1
|
APN |
7 |
27,055,366 (GRCm39) |
missense |
probably benign |
|
|
IGL01787:Shkbp1
|
APN |
7 |
27,041,875 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02149:Shkbp1
|
APN |
7 |
27,042,064 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02902:Shkbp1
|
APN |
7 |
27,042,141 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0086:Shkbp1
|
UTSW |
7 |
27,051,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0219:Shkbp1
|
UTSW |
7 |
27,051,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0485:Shkbp1
|
UTSW |
7 |
27,048,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1036:Shkbp1
|
UTSW |
7 |
27,044,721 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1468:Shkbp1
|
UTSW |
7 |
27,044,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Shkbp1
|
UTSW |
7 |
27,044,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:Shkbp1
|
UTSW |
7 |
27,054,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1757:Shkbp1
|
UTSW |
7 |
27,041,776 (GRCm39) |
missense |
probably benign |
|
|
R1968:Shkbp1
|
UTSW |
7 |
27,054,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2763:Shkbp1
|
UTSW |
7 |
27,046,454 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3027:Shkbp1
|
UTSW |
7 |
27,042,818 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3924:Shkbp1
|
UTSW |
7 |
27,041,827 (GRCm39) |
missense |
probably benign |
|
|
R4425:Shkbp1
|
UTSW |
7 |
27,042,727 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5048:Shkbp1
|
UTSW |
7 |
27,051,521 (GRCm39) |
unclassified |
probably benign |
|
|
R5862:Shkbp1
|
UTSW |
7 |
27,042,829 (GRCm39) |
nonsense |
probably null |
|
|
R5955:Shkbp1
|
UTSW |
7 |
27,041,949 (GRCm39) |
missense |
probably benign |
|
|
R6016:Shkbp1
|
UTSW |
7 |
27,053,826 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6226:Shkbp1
|
UTSW |
7 |
27,051,405 (GRCm39) |
missense |
probably null |
1.00 |
|
R6362:Shkbp1
|
UTSW |
7 |
27,051,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6382:Shkbp1
|
UTSW |
7 |
27,051,484 (GRCm39) |
nonsense |
probably null |
|
|
R6460:Shkbp1
|
UTSW |
7 |
27,049,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6647:Shkbp1
|
UTSW |
7 |
27,041,800 (GRCm39) |
missense |
probably benign |
|
|
R7025:Shkbp1
|
UTSW |
7 |
27,054,706 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7255:Shkbp1
|
UTSW |
7 |
27,042,173 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7522:Shkbp1
|
UTSW |
7 |
27,046,583 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7571:Shkbp1
|
UTSW |
7 |
27,046,556 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8207:Shkbp1
|
UTSW |
7 |
27,052,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8770:Shkbp1
|
UTSW |
7 |
27,051,311 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8996:Shkbp1
|
UTSW |
7 |
27,042,844 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9361:Shkbp1
|
UTSW |
7 |
27,051,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9758:Shkbp1
|
UTSW |
7 |
27,046,442 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1177:Shkbp1
|
UTSW |
7 |
27,046,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation