Incidental Mutation 'R8747:Snap91'
| ID |
663611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snap91
|
| Ensembl Gene |
ENSMUSG00000033419 |
| Gene Name |
synaptosomal-associated protein 91 |
| Synonyms |
F1-20, 91kDa, AP180 |
| MMRRC Submission |
068618-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R8747 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
86647976-86762707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86686577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 354
(F354L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000036347
AA Change: F356L
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: F356L
| 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 |
possibly damaging
Transcript: ENSMUST00000074468
AA Change: F356L
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: F356L
| 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
AA Change: F354L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
AA Change: F354L
| 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 damaging
Transcript: ENSMUST00000098495
AA Change: F354L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: F354L
| 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: 98.5%
|
| Validation Efficiency |
100% (52/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,240 (GRCm39) |
D190G |
probably benign |
Het |
| Abhd11 |
A |
G |
5: 135,040,760 (GRCm39) |
I271V |
possibly damaging |
Het |
| Akap6 |
T |
G |
12: 53,188,999 (GRCm39) |
S2138A |
probably benign |
Het |
| Amn |
C |
A |
12: 111,241,440 (GRCm39) |
P235H |
probably damaging |
Het |
| Arf2 |
A |
T |
11: 103,859,975 (GRCm39) |
M18L |
probably benign |
Het |
| Asic2 |
A |
T |
11: 81,043,233 (GRCm39) |
F20Y |
possibly damaging |
Het |
| Bok |
T |
C |
1: 93,622,664 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
T |
A |
4: 100,860,045 (GRCm39) |
|
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,883,617 (GRCm39) |
N308S |
probably benign |
Het |
| Cavin3 |
G |
T |
7: 105,131,154 (GRCm39) |
H71Q |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,646 (GRCm39) |
I713V |
probably benign |
Het |
| Clcn6 |
A |
T |
4: 148,093,354 (GRCm39) |
|
probably null |
Het |
| Cmas |
T |
C |
6: 142,716,927 (GRCm39) |
I273T |
possibly damaging |
Het |
| Ctxn3 |
A |
T |
18: 57,610,378 (GRCm39) |
D65V |
probably damaging |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,705 (GRCm39) |
N387K |
probably benign |
Het |
| Depp1 |
T |
A |
6: 116,629,122 (GRCm39) |
L155Q |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,818,816 (GRCm39) |
K3174R |
possibly damaging |
Het |
| Ecpas |
C |
T |
4: 58,828,632 (GRCm39) |
V934I |
probably damaging |
Het |
| Efcab14 |
A |
G |
4: 115,603,793 (GRCm39) |
N157S |
probably damaging |
Het |
| Ets1 |
G |
A |
9: 32,641,474 (GRCm39) |
G109D |
probably damaging |
Het |
| Fbln5 |
G |
A |
12: 101,734,754 (GRCm39) |
R173C |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,096,035 (GRCm39) |
P525L |
probably benign |
Het |
| Gmppa |
G |
A |
1: 75,416,025 (GRCm39) |
V156I |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,603,482 (GRCm39) |
D182G |
|
Het |
| Ift140 |
T |
A |
17: 25,254,809 (GRCm39) |
S430T |
probably benign |
Het |
| Kat7 |
G |
C |
11: 95,185,392 (GRCm39) |
C161W |
probably damaging |
Het |
| Lipk |
T |
A |
19: 33,996,184 (GRCm39) |
M32K |
probably damaging |
Het |
| Lum |
A |
T |
10: 97,404,351 (GRCm39) |
D82V |
possibly damaging |
Het |
| Macf1 |
C |
A |
4: 123,248,944 (GRCm39) |
A7196S |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,964,782 (GRCm39) |
S926T |
probably damaging |
Het |
| Nbn |
G |
T |
4: 15,981,555 (GRCm39) |
R549I |
probably damaging |
Het |
| Nfu1 |
T |
C |
6: 86,996,400 (GRCm39) |
I117T |
probably damaging |
Het |
| Or51f1 |
T |
C |
7: 102,506,139 (GRCm39) |
T117A |
probably benign |
Het |
| Or7a39 |
A |
G |
10: 78,715,155 (GRCm39) |
T50A |
probably benign |
Het |
| Parp1 |
T |
C |
1: 180,422,275 (GRCm39) |
L778P |
probably damaging |
Het |
| Pbld2 |
G |
T |
10: 62,888,069 (GRCm39) |
V125F |
probably benign |
Het |
| Prkag2 |
A |
G |
5: 25,085,680 (GRCm39) |
|
probably null |
Het |
| Prss54 |
A |
G |
8: 96,286,351 (GRCm39) |
F241L |
probably benign |
Het |
| Rnf121 |
T |
C |
7: 101,678,316 (GRCm39) |
D177G |
probably damaging |
Het |
| Slc12a7 |
G |
A |
13: 73,933,241 (GRCm39) |
V100I |
probably benign |
Het |
| Slc28a1 |
C |
T |
7: 80,774,719 (GRCm39) |
L189F |
possibly damaging |
Het |
| Slc35a3 |
T |
C |
3: 116,488,219 (GRCm39) |
Q16R |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,723,539 (GRCm39) |
I447T |
probably benign |
Het |
| Tagap |
T |
A |
17: 8,147,602 (GRCm39) |
I104N |
probably damaging |
Het |
| Tas1r2 |
A |
G |
4: 139,387,318 (GRCm39) |
D259G |
probably benign |
Het |
| Tgm3 |
T |
C |
2: 129,886,452 (GRCm39) |
S558P |
probably benign |
Het |
| Tuba3a |
A |
G |
6: 125,258,018 (GRCm39) |
V324A |
probably damaging |
Het |
| Vmn1r238 |
T |
G |
18: 3,123,232 (GRCm39) |
I61L |
possibly damaging |
Het |
| Vmn1r52 |
A |
G |
6: 90,156,451 (GRCm39) |
T252A |
probably benign |
Het |
| Vmp1 |
A |
G |
11: 86,492,885 (GRCm39) |
V308A |
probably damaging |
Het |
| Wdfy4 |
A |
C |
14: 32,874,611 (GRCm39) |
V159G |
|
Het |
| Zfp180 |
A |
G |
7: 23,804,687 (GRCm39) |
T369A |
possibly damaging |
Het |
| Zfp827 |
A |
G |
8: 79,755,316 (GRCm39) |
M1V |
probably null |
Het |
| Zmym4 |
A |
G |
4: 126,787,198 (GRCm39) |
I1031T |
probably damaging |
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 |
|
|
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 |
|
|
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'- CGCCACCCTGAGAAAATTTC -3'
(R):5'- GTAAAACTTAGGCTTCTTTGGAAGG -3'
Sequencing Primer
(F):5'- CTGAGAAAATTTCCCACCAAGTTTC -3'
(R):5'- AGTGTCTTACCTCTGCTATAATGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation