Incidental Mutation 'IGL02864:Snap91'
| ID |
362272 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snap91
|
| Ensembl Gene |
ENSMUSG00000033419 |
| Gene Name |
synaptosomal-associated protein 91 |
| Synonyms |
F1-20, 91kDa, AP180 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
IGL02864
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
86647976-86762707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86720141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 132
(N132S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036347]
[ENSMUST00000074468]
[ENSMUST00000074501]
[ENSMUST00000098495]
[ENSMUST00000191290]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036347
AA Change: N132S
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: N132S
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
8.41e-48 |
SMART |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
558 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
559 |
586 |
3.27e-5 |
PROSPERO |
|
internal_repeat_1
|
584 |
611 |
3.27e-5 |
PROSPERO |
|
low complexity region
|
616 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
862 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074468
AA Change: N132S
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: N132S
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
8.41e-48 |
SMART |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
558 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
559 |
586 |
6.86e-5 |
PROSPERO |
|
internal_repeat_1
|
584 |
611 |
6.86e-5 |
PROSPERO |
|
low complexity region
|
616 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
762 |
N/A |
INTRINSIC |
|
low complexity region
|
833 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
895 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074501
AA Change: N132S
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
AA Change: N132S
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
8.41e-48 |
SMART |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098495
AA Change: N132S
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: N132S
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
8.41e-48 |
SMART |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
551 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
552 |
579 |
4.67e-5 |
PROSPERO |
|
internal_repeat_1
|
577 |
604 |
4.67e-5 |
PROSPERO |
|
low complexity region
|
609 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
727 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
832 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167014
|
| SMART Domains |
Protein: ENSMUSP00000128738
Gene: ENSMUSG00000033419
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
8.41e-48 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191290
AA Change: N132S
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000141065
Gene: ENSMUSG00000033419
AA Change: N132S
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
5.2e-50 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display postnatal growth retardation, limb clasping, altered behavior, defects in synaptic vesicle reformation, impaired neurotransmission, excitatory/inhibitory imbalance, epileptic seizures, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,937,080 (GRCm39) |
R347G |
probably damaging |
Het |
| Actl11 |
G |
A |
9: 107,806,186 (GRCm39) |
A170T |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,440,670 (GRCm39) |
D241G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,835,308 (GRCm39) |
W745R |
probably damaging |
Het |
| Arhgef7 |
G |
A |
8: 11,865,247 (GRCm39) |
V401I |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,773,663 (GRCm39) |
V1709A |
probably benign |
Het |
| Ccl20 |
T |
C |
1: 83,095,799 (GRCm39) |
|
probably null |
Het |
| Cd209d |
C |
T |
8: 3,927,122 (GRCm39) |
V48I |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,374,548 (GRCm39) |
N1559S |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,951,829 (GRCm39) |
Y1890C |
probably damaging |
Het |
| Dsel |
A |
T |
1: 111,786,944 (GRCm39) |
M1197K |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,288,938 (GRCm39) |
S259T |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,764,349 (GRCm39) |
G672D |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,063,796 (GRCm39) |
|
probably benign |
Het |
| Gstk1 |
A |
G |
6: 42,224,687 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Gtpbp2 |
G |
A |
17: 46,476,520 (GRCm39) |
C282Y |
probably benign |
Het |
| Hapln3 |
A |
T |
7: 78,767,812 (GRCm39) |
W113R |
probably benign |
Het |
| Ifng |
A |
G |
10: 118,278,561 (GRCm39) |
Y74C |
probably damaging |
Het |
| Kyat1 |
C |
A |
2: 30,082,089 (GRCm39) |
|
probably benign |
Het |
| Las1l |
A |
T |
X: 94,991,446 (GRCm39) |
D308E |
possibly damaging |
Het |
| Mdh1b |
T |
A |
1: 63,760,762 (GRCm39) |
T100S |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,338,806 (GRCm39) |
M810K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,543,685 (GRCm39) |
D593G |
probably damaging |
Het |
| Pnma5 |
A |
T |
X: 72,079,457 (GRCm39) |
D408E |
probably benign |
Het |
| Pramel46 |
G |
T |
5: 95,418,543 (GRCm39) |
A151E |
possibly damaging |
Het |
| Psen2 |
T |
C |
1: 180,073,268 (GRCm39) |
T18A |
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,883,659 (GRCm39) |
V802E |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,297,002 (GRCm39) |
|
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,997,487 (GRCm39) |
H675R |
probably damaging |
Het |
| Tpra1 |
C |
A |
6: 88,888,868 (GRCm39) |
P350H |
probably damaging |
Het |
| Trim43a |
C |
T |
9: 88,470,165 (GRCm39) |
R324C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,566,675 (GRCm39) |
I28073V |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,767,095 (GRCm39) |
H3023Q |
probably benign |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,661 (GRCm39) |
V261A |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,336,286 (GRCm39) |
P103S |
probably benign |
Het |
| Wars1 |
A |
G |
12: 108,848,791 (GRCm39) |
M52T |
probably benign |
Het |
| Zcchc2 |
C |
T |
1: 105,943,814 (GRCm39) |
H460Y |
probably damaging |
Het |
| Zscan12 |
G |
T |
13: 21,552,730 (GRCm39) |
V185F |
probably benign |
Het |
|
| Other mutations in Snap91 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Snap91
|
APN |
9 |
86,703,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01147:Snap91
|
APN |
9 |
86,680,611 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01358:Snap91
|
APN |
9 |
86,688,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01501:Snap91
|
APN |
9 |
86,720,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01883:Snap91
|
APN |
9 |
86,657,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02632:Snap91
|
APN |
9 |
86,721,575 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03276:Snap91
|
APN |
9 |
86,707,065 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
PIT4514001:Snap91
|
UTSW |
9 |
86,761,486 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1564:Snap91
|
UTSW |
9 |
86,674,249 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1804:Snap91
|
UTSW |
9 |
86,665,470 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1840:Snap91
|
UTSW |
9 |
86,697,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Snap91
|
UTSW |
9 |
86,672,194 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2156:Snap91
|
UTSW |
9 |
86,707,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2221:Snap91
|
UTSW |
9 |
86,674,580 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2223:Snap91
|
UTSW |
9 |
86,674,580 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2233:Snap91
|
UTSW |
9 |
86,680,624 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2680:Snap91
|
UTSW |
9 |
86,761,603 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R3077:Snap91
|
UTSW |
9 |
86,720,907 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3702:Snap91
|
UTSW |
9 |
86,688,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3840:Snap91
|
UTSW |
9 |
86,721,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3912:Snap91
|
UTSW |
9 |
86,674,610 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3913:Snap91
|
UTSW |
9 |
86,674,610 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3958:Snap91
|
UTSW |
9 |
86,720,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3963:Snap91
|
UTSW |
9 |
86,657,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Snap91
|
UTSW |
9 |
86,659,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4133:Snap91
|
UTSW |
9 |
86,659,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4641:Snap91
|
UTSW |
9 |
86,761,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Snap91
|
UTSW |
9 |
86,674,070 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4770:Snap91
|
UTSW |
9 |
86,655,654 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4798:Snap91
|
UTSW |
9 |
86,665,507 (GRCm39) |
intron |
probably benign |
|
|
R4849:Snap91
|
UTSW |
9 |
86,674,613 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4991:Snap91
|
UTSW |
9 |
86,672,207 (GRCm39) |
splice site |
probably null |
|
|
R5200:Snap91
|
UTSW |
9 |
86,697,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Snap91
|
UTSW |
9 |
86,717,177 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5644:Snap91
|
UTSW |
9 |
86,672,206 (GRCm39) |
splice site |
probably null |
|
|
R6029:Snap91
|
UTSW |
9 |
86,707,133 (GRCm39) |
splice site |
probably null |
|
|
R6091:Snap91
|
UTSW |
9 |
86,721,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Snap91
|
UTSW |
9 |
86,707,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Snap91
|
UTSW |
9 |
86,720,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6611:Snap91
|
UTSW |
9 |
86,672,180 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6764:Snap91
|
UTSW |
9 |
86,674,234 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6881:Snap91
|
UTSW |
9 |
86,655,646 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7201:Snap91
|
UTSW |
9 |
86,672,199 (GRCm39) |
splice site |
probably null |
|
|
R7223:Snap91
|
UTSW |
9 |
86,761,610 (GRCm39) |
start gained |
probably benign |
|
|
R7247:Snap91
|
UTSW |
9 |
86,674,669 (GRCm39) |
missense |
unknown |
|
|
R7327:Snap91
|
UTSW |
9 |
86,655,598 (GRCm39) |
missense |
unknown |
|
|
R7520:Snap91
|
UTSW |
9 |
86,721,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7572:Snap91
|
UTSW |
9 |
86,688,547 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7616:Snap91
|
UTSW |
9 |
86,721,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Snap91
|
UTSW |
9 |
86,707,031 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7750:Snap91
|
UTSW |
9 |
86,680,762 (GRCm39) |
splice site |
probably null |
|
|
R8747:Snap91
|
UTSW |
9 |
86,686,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8918:Snap91
|
UTSW |
9 |
86,651,611 (GRCm39) |
missense |
unknown |
|
|
R9171:Snap91
|
UTSW |
9 |
86,680,672 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9512:Snap91
|
UTSW |
9 |
86,665,392 (GRCm39) |
missense |
unknown |
|
|
R9764:Snap91
|
UTSW |
9 |
86,707,094 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
X0027:Snap91
|
UTSW |
9 |
86,680,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation