Incidental Mutation 'R7247:Snap91'
| ID |
563617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snap91
|
| Ensembl Gene |
ENSMUSG00000033419 |
| Gene Name |
synaptosomal-associated protein 91 |
| Synonyms |
F1-20, 91kDa, AP180 |
| MMRRC Submission |
045310-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R7247 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
86647976-86762707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86674669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 507
(V507A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036347]
[ENSMUST00000074468]
[ENSMUST00000074501]
[ENSMUST00000098495]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036347
AA Change: V514A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: V514A
| 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: V514A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: V514A
| 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 |
probably benign
Transcript: ENSMUST00000074501
|
| SMART Domains |
Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
| 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 |
unknown
Transcript: ENSMUST00000098495
AA Change: V507A
|
| SMART Domains |
Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: V507A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,240,732 (GRCm39) |
E865G |
probably benign |
Het |
| Actrt2 |
A |
C |
4: 154,751,880 (GRCm39) |
D85E |
probably benign |
Het |
| Ankrd55 |
A |
G |
13: 112,472,787 (GRCm39) |
E153G |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,501,139 (GRCm39) |
H1037L |
probably benign |
Het |
| Camk2a |
A |
G |
18: 61,076,277 (GRCm39) |
Y85C |
unknown |
Het |
| Caprin1 |
A |
T |
2: 103,609,819 (GRCm39) |
V153E |
possibly damaging |
Het |
| Caskin2 |
G |
A |
11: 115,692,722 (GRCm39) |
P688S |
probably benign |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ccdc116 |
T |
C |
16: 16,957,555 (GRCm39) |
T535A |
possibly damaging |
Het |
| Cdh9 |
G |
A |
15: 16,778,341 (GRCm39) |
R52H |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,255,666 (GRCm39) |
L406S |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,786,499 (GRCm39) |
M1449T |
probably damaging |
Het |
| Chst8 |
T |
A |
7: 34,375,361 (GRCm39) |
K159N |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,286,374 (GRCm39) |
H136R |
probably benign |
Het |
| Dip2a |
C |
T |
10: 76,108,366 (GRCm39) |
|
probably null |
Het |
| Dock2 |
G |
A |
11: 34,605,340 (GRCm39) |
R260* |
probably null |
Het |
| Dscam |
A |
G |
16: 96,622,008 (GRCm39) |
V481A |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,690,502 (GRCm39) |
D112G |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,510,708 (GRCm39) |
K634E |
probably damaging |
Het |
| Fcgr2b |
A |
G |
1: 170,793,269 (GRCm39) |
|
probably null |
Het |
| Fgfrl1 |
T |
C |
5: 108,851,365 (GRCm39) |
V94A |
possibly damaging |
Het |
| Gpr156 |
C |
A |
16: 37,768,103 (GRCm39) |
N6K |
probably damaging |
Het |
| Gsdmc2 |
A |
T |
15: 63,705,183 (GRCm39) |
F177I |
probably benign |
Het |
| Igkv4-54 |
T |
A |
6: 69,608,842 (GRCm39) |
S26C |
probably damaging |
Het |
| Iglc3 |
T |
C |
16: 18,884,191 (GRCm39) |
H80R |
|
Het |
| Immp1l |
G |
A |
2: 105,767,401 (GRCm39) |
G87S |
probably damaging |
Het |
| Itgav |
A |
T |
2: 83,555,179 (GRCm39) |
D34V |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 41,159,224 (GRCm39) |
T1686I |
|
Het |
| Ltn1 |
T |
C |
16: 87,206,275 (GRCm39) |
D935G |
probably benign |
Het |
| Map3k8 |
T |
C |
18: 4,334,036 (GRCm39) |
D352G |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,772,604 (GRCm39) |
K610E |
possibly damaging |
Het |
| Marchf4 |
G |
T |
1: 72,491,637 (GRCm39) |
Y211* |
probably null |
Het |
| Marf1 |
A |
T |
16: 13,944,957 (GRCm39) |
L1304Q |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,011,331 (GRCm39) |
Y268N |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,194,505 (GRCm39) |
V5A |
unknown |
Het |
| Mep1a |
A |
T |
17: 43,785,995 (GRCm39) |
V711D |
possibly damaging |
Het |
| Naca |
T |
A |
10: 127,878,467 (GRCm39) |
D1166E |
unknown |
Het |
| Neb |
G |
T |
2: 52,148,753 (GRCm39) |
P2598Q |
probably damaging |
Het |
| Notch4 |
A |
T |
17: 34,791,491 (GRCm39) |
E546V |
probably damaging |
Het |
| Nudt18 |
A |
G |
14: 70,815,422 (GRCm39) |
T12A |
unknown |
Het |
| Nvl |
A |
C |
1: 180,939,851 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
T |
11: 58,994,144 (GRCm39) |
C1579* |
probably null |
Het |
| Or4b13 |
G |
A |
2: 90,083,165 (GRCm39) |
P56S |
probably damaging |
Het |
| Or51e2 |
T |
C |
7: 102,391,551 (GRCm39) |
I220V |
probably damaging |
Het |
| Or6c5b |
T |
C |
10: 129,246,051 (GRCm39) |
V272A |
probably damaging |
Het |
| Or7g33 |
A |
T |
9: 19,448,629 (GRCm39) |
I199K |
probably benign |
Het |
| Or8g19 |
T |
A |
9: 39,056,153 (GRCm39) |
Y252* |
probably null |
Het |
| Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
| Paqr9 |
A |
G |
9: 95,442,246 (GRCm39) |
T79A |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,061,543 (GRCm39) |
V2798E |
probably damaging |
Het |
| Potefam3f |
A |
G |
8: 20,479,022 (GRCm39) |
N10S |
|
Het |
| Ptpn4 |
A |
T |
1: 119,617,764 (GRCm39) |
*557R |
probably null |
Het |
| Ptprt |
T |
C |
2: 161,375,443 (GRCm39) |
E1379G |
probably benign |
Het |
| Rad18 |
G |
T |
6: 112,642,286 (GRCm39) |
T327K |
possibly damaging |
Het |
| Rps2 |
T |
A |
17: 24,939,554 (GRCm39) |
I75N |
possibly damaging |
Het |
| Scgb2b2 |
A |
T |
7: 31,003,021 (GRCm39) |
R39W |
probably damaging |
Het |
| Sh3d21 |
A |
G |
4: 126,045,908 (GRCm39) |
F307S |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,705,695 (GRCm39) |
Y243F |
probably damaging |
Het |
| Stim1 |
T |
A |
7: 102,070,739 (GRCm39) |
|
probably null |
Het |
| Top2b |
T |
C |
14: 16,416,962 (GRCm38) |
V1161A |
probably benign |
Het |
| Tpcn1 |
T |
C |
5: 120,723,315 (GRCm39) |
D16G |
possibly damaging |
Het |
| Trank1 |
A |
T |
9: 111,196,580 (GRCm39) |
I1535F |
probably damaging |
Het |
| Txnrd2 |
T |
C |
16: 18,274,822 (GRCm39) |
F278L |
probably damaging |
Het |
| Ufl1 |
A |
T |
4: 25,254,637 (GRCm39) |
D579E |
probably damaging |
Het |
| Vps45 |
T |
C |
3: 95,948,717 (GRCm39) |
N346S |
probably benign |
Het |
| Vps51 |
T |
A |
19: 6,127,419 (GRCm39) |
|
probably benign |
Het |
| Zfp536 |
T |
C |
7: 37,268,631 (GRCm39) |
N262D |
probably benign |
Het |
| Zmynd10 |
A |
G |
9: 107,425,976 (GRCm39) |
I103M |
possibly damaging |
Het |
| Zswim1 |
C |
T |
2: 164,667,719 (GRCm39) |
H324Y |
possibly damaging |
Het |
| Zxdc |
T |
C |
6: 90,361,155 (GRCm39) |
W507R |
unknown |
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 |
|
IGL02864:Snap91
|
APN |
9 |
86,720,141 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTCAAGCCACCAGATGAG -3'
(R):5'- GTGTGTGACAAGTCTTCTTACCTG -3'
Sequencing Primer
(F):5'- TTCAAGCCACCAGATGAGAGAGATTG -3'
(R):5'- GACAAGTCTTCTTACCTGTAGTTACG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation