Incidental Mutation 'R6091:Snap91'
| ID |
485929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snap91
|
| Ensembl Gene |
ENSMUSG00000033419 |
| Gene Name |
synaptosomal-associated protein 91 |
| Synonyms |
F1-20, 91kDa, AP180 |
| MMRRC Submission |
044248-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R6091 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
86647976-86762707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86721681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 53
(N53Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036347]
[ENSMUST00000074468]
[ENSMUST00000074501]
[ENSMUST00000098495]
[ENSMUST00000191290]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036347
AA Change: N53Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: N53Y
| 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 damaging
Transcript: ENSMUST00000074468
AA Change: N53Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: N53Y
| 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 damaging
Transcript: ENSMUST00000074501
AA Change: N53Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
AA Change: N53Y
| 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: N53Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: N53Y
| 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 damaging
Transcript: ENSMUST00000191290
AA Change: N53Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141065
Gene: ENSMUSG00000033419
AA Change: N53Y
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
5.2e-50 |
SMART |
|
| Meta Mutation Damage Score |
0.3882 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
96% (54/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
G |
2: 35,252,348 (GRCm39) |
T50P |
possibly damaging |
Het |
| Adad1 |
A |
G |
3: 37,139,118 (GRCm39) |
E396G |
possibly damaging |
Het |
| Adamtsl3 |
T |
A |
7: 82,114,829 (GRCm39) |
C232S |
probably damaging |
Het |
| AI606181 |
T |
C |
19: 41,582,063 (GRCm39) |
S78P |
unknown |
Het |
| Amph |
T |
A |
13: 19,309,293 (GRCm39) |
M457K |
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,223,171 (GRCm39) |
M174K |
probably benign |
Het |
| C3 |
T |
A |
17: 57,528,967 (GRCm39) |
K632* |
probably null |
Het |
| Cep170 |
C |
T |
1: 176,583,397 (GRCm39) |
G994D |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,751,875 (GRCm39) |
V124A |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,761,691 (GRCm39) |
K2259E |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,784,402 (GRCm39) |
T137A |
unknown |
Het |
| Dcc |
C |
T |
18: 71,942,185 (GRCm39) |
V311I |
probably benign |
Het |
| Ddx42 |
A |
T |
11: 106,125,796 (GRCm39) |
Q282L |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,804,390 (GRCm39) |
T1833A |
possibly damaging |
Het |
| Fpr-rs3 |
A |
G |
17: 20,844,532 (GRCm39) |
I203T |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,818,796 (GRCm39) |
I2139T |
probably benign |
Het |
| Frmpd2 |
T |
C |
14: 33,244,820 (GRCm39) |
V546A |
probably damaging |
Het |
| Gbp11 |
G |
T |
5: 105,479,254 (GRCm39) |
T123N |
possibly damaging |
Het |
| Hs3st1 |
G |
A |
5: 39,772,007 (GRCm39) |
P212L |
probably damaging |
Het |
| Ifnb1 |
T |
A |
4: 88,440,813 (GRCm39) |
M67L |
probably benign |
Het |
| Ighv1-54 |
T |
C |
12: 115,157,497 (GRCm39) |
N50S |
probably benign |
Het |
| Ikzf4 |
G |
A |
10: 128,470,542 (GRCm39) |
T326I |
probably benign |
Het |
| Ints2 |
A |
T |
11: 86,127,429 (GRCm39) |
V501E |
probably damaging |
Het |
| Mfsd1 |
C |
A |
3: 67,507,270 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mrps11 |
G |
A |
7: 78,438,466 (GRCm39) |
A73T |
possibly damaging |
Het |
| Mterf4 |
T |
C |
1: 93,229,291 (GRCm39) |
E311G |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,347,635 (GRCm39) |
T176A |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,460,482 (GRCm39) |
L1495R |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,069,113 (GRCm39) |
T451A |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,685,111 (GRCm39) |
T90A |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,220,715 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,310,443 (GRCm39) |
L201P |
probably damaging |
Het |
| Nfxl1 |
G |
T |
5: 72,671,533 (GRCm39) |
L909I |
probably benign |
Het |
| Nr3c1 |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
18: 39,620,011 (GRCm39) |
|
probably benign |
Het |
| Or5aq1b |
T |
A |
2: 86,901,705 (GRCm39) |
S258C |
probably benign |
Het |
| Plscr5 |
A |
G |
9: 92,086,437 (GRCm39) |
T136A |
probably benign |
Het |
| Ppp1r3a |
G |
A |
6: 14,719,339 (GRCm39) |
T525I |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,215,979 (GRCm38) |
G1143R |
probably damaging |
Het |
| Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,771,398 (GRCm39) |
T2541A |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,247 (GRCm39) |
L1244P |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,316,482 (GRCm39) |
H1673Y |
probably damaging |
Het |
| Slc22a19 |
A |
G |
19: 7,688,428 (GRCm39) |
I44T |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,276,539 (GRCm39) |
T338A |
possibly damaging |
Het |
| Taf6l |
T |
C |
19: 8,755,920 (GRCm39) |
T243A |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,459,891 (GRCm39) |
R487G |
probably damaging |
Het |
| Tfcp2 |
G |
T |
15: 100,410,194 (GRCm39) |
T391N |
probably damaging |
Het |
| Tnxb |
G |
A |
17: 34,929,338 (GRCm39) |
V2794M |
probably damaging |
Het |
| Ush2a |
T |
G |
1: 188,132,000 (GRCm39) |
C741G |
probably damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,184,684 (GRCm39) |
I208F |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,496,790 (GRCm39) |
I21F |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,545,958 (GRCm39) |
D610G |
probably benign |
Het |
| Wbp1 |
T |
C |
6: 83,096,468 (GRCm39) |
S229G |
probably benign |
Het |
| Xirp1 |
A |
G |
9: 119,847,029 (GRCm39) |
V618A |
probably benign |
Het |
| Zbtb32 |
A |
G |
7: 30,291,254 (GRCm39) |
S14P |
possibly damaging |
Het |
| Zfp24 |
A |
G |
18: 24,147,269 (GRCm39) |
S348P |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATCATGTTCTGCTACCCCA -3'
(R):5'- TCTGTGCCAGCAAGTTGAAAATAAAA -3'
Sequencing Primer
(F):5'- CAGGCTCTACCAAGAAACAATTG -3'
(R):5'- ATCCCAGATGACCTGAGTTTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation