Incidental Mutation 'R1804:Snap91'
| ID |
203392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snap91
|
| Ensembl Gene |
ENSMUSG00000033419 |
| Gene Name |
synaptosomal-associated protein 91 |
| Synonyms |
F1-20, 91kDa, AP180 |
| MMRRC Submission |
039834-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R1804 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
86647976-86762707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86665470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 383
(M383L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074095
(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: M676L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: M676L
| 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: M676L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: M676L
| 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: M383L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
AA Change: M383L
| 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: M641L
|
| SMART Domains |
Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: M641L
| 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: ENSMUST00000190089
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192170
|
| Meta Mutation Damage Score |
0.0637 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.5%
- 20x: 89.8%
|
| Validation Efficiency |
96% (77/80) |
| 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 |
|---|
| 1700056E22Rik |
A |
G |
1: 183,765,400 (GRCm39) |
Y220H |
probably benign |
Het |
| 4930579C12Rik |
T |
C |
9: 89,034,113 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc8 |
T |
C |
7: 45,769,903 (GRCm39) |
S871G |
probably benign |
Het |
| Acly |
T |
C |
11: 100,406,731 (GRCm39) |
Y288C |
probably damaging |
Het |
| Adgrb1 |
T |
A |
15: 74,401,389 (GRCm39) |
D128E |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,598,257 (GRCm39) |
Q1497* |
probably null |
Het |
| Bltp2 |
A |
G |
11: 78,164,295 (GRCm39) |
H1165R |
probably damaging |
Het |
| Cacna1c |
G |
A |
6: 118,664,007 (GRCm39) |
T688M |
probably damaging |
Het |
| Ccdc7a |
A |
T |
8: 129,715,247 (GRCm39) |
L279* |
probably null |
Het |
| Cep135 |
A |
G |
5: 76,784,779 (GRCm39) |
E958G |
probably benign |
Het |
| Clec4n |
G |
T |
6: 123,206,981 (GRCm39) |
V2L |
possibly damaging |
Het |
| Col28a1 |
C |
T |
6: 8,164,612 (GRCm39) |
|
probably null |
Het |
| Dcaf5 |
A |
G |
12: 80,386,603 (GRCm39) |
S508P |
probably benign |
Het |
| Dlgap2 |
C |
A |
8: 14,777,809 (GRCm39) |
N351K |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,927,381 (GRCm39) |
Y1346N |
probably benign |
Het |
| Dqx1 |
T |
C |
6: 83,037,303 (GRCm39) |
V322A |
probably damaging |
Het |
| Ebf3 |
A |
C |
7: 136,802,250 (GRCm39) |
L412V |
possibly damaging |
Het |
| Epha5 |
T |
C |
5: 84,479,674 (GRCm39) |
N110S |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,785,564 (GRCm39) |
C334R |
probably benign |
Het |
| Glp1r |
T |
A |
17: 31,149,687 (GRCm39) |
|
probably null |
Het |
| Gm4952 |
G |
T |
19: 12,595,784 (GRCm39) |
R58L |
probably damaging |
Het |
| Gm7579 |
G |
A |
7: 141,765,675 (GRCm39) |
C27Y |
unknown |
Het |
| Golm1 |
T |
A |
13: 59,790,203 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
T |
A |
19: 55,198,741 (GRCm39) |
I801F |
probably benign |
Het |
| H2-D1 |
T |
C |
17: 35,482,528 (GRCm39) |
Y83H |
probably damaging |
Het |
| Homez |
A |
T |
14: 55,094,598 (GRCm39) |
I19N |
probably damaging |
Het |
| Hoxa5 |
T |
C |
6: 52,179,628 (GRCm39) |
K249R |
probably damaging |
Het |
| Hsd17b4 |
A |
T |
18: 50,311,051 (GRCm39) |
N550Y |
probably damaging |
Het |
| Ipo4 |
A |
T |
14: 55,866,913 (GRCm39) |
N668K |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klb |
A |
G |
5: 65,537,196 (GRCm39) |
D842G |
probably damaging |
Het |
| Minar1 |
T |
A |
9: 89,485,152 (GRCm39) |
M82L |
possibly damaging |
Het |
| Mmp21 |
G |
T |
7: 133,280,611 (GRCm39) |
P120T |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,551,589 (GRCm39) |
I918F |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,517 (GRCm39) |
T3488A |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,356,145 (GRCm39) |
C42Y |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,288,565 (GRCm39) |
Y214C |
probably damaging |
Het |
| Or2q1 |
G |
A |
6: 42,795,155 (GRCm39) |
C250Y |
possibly damaging |
Het |
| Or4k15c |
A |
T |
14: 50,321,359 (GRCm39) |
W260R |
probably damaging |
Het |
| Or4k35 |
T |
C |
2: 111,100,275 (GRCm39) |
M146V |
probably benign |
Het |
| Or5al1 |
G |
T |
2: 85,990,417 (GRCm39) |
T99N |
probably benign |
Het |
| Or8d23 |
A |
G |
9: 38,841,946 (GRCm39) |
T160A |
possibly damaging |
Het |
| Phtf1 |
A |
G |
3: 103,894,883 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,511,041 (GRCm39) |
N1302S |
possibly damaging |
Het |
| Prex2 |
A |
G |
1: 11,202,566 (GRCm39) |
K492E |
probably damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,208,259 (GRCm39) |
D509G |
probably benign |
Het |
| Rims2 |
C |
T |
15: 39,300,439 (GRCm39) |
Q57* |
probably null |
Het |
| Rnf40 |
T |
C |
7: 127,195,120 (GRCm39) |
V411A |
possibly damaging |
Het |
| Rraga |
A |
G |
4: 86,494,681 (GRCm39) |
I176V |
probably damaging |
Het |
| Rrm2 |
T |
C |
12: 24,758,611 (GRCm39) |
I51T |
probably benign |
Het |
| Serpina3a |
T |
A |
12: 104,084,675 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
T |
C |
4: 111,839,209 (GRCm39) |
W168R |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,701,279 (GRCm39) |
M357V |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,528,361 (GRCm39) |
H452R |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,011,991 (GRCm39) |
I127K |
possibly damaging |
Het |
| Taf6l |
A |
T |
19: 8,750,998 (GRCm39) |
L52Q |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,488 (GRCm39) |
I266V |
probably benign |
Het |
| Tesk2 |
T |
C |
4: 116,657,818 (GRCm39) |
|
probably benign |
Het |
| Tmem131l |
T |
G |
3: 83,817,786 (GRCm39) |
Q1237P |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,045,789 (GRCm39) |
|
probably null |
Het |
| Tnfaip8 |
T |
A |
18: 50,223,728 (GRCm39) |
C179S |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,365,926 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
T |
15: 35,917,283 (GRCm39) |
E3709V |
probably damaging |
Het |
| Wdr7 |
A |
T |
18: 63,998,511 (GRCm39) |
S1153C |
probably damaging |
Het |
| Zc2hc1b |
A |
C |
10: 13,047,012 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,213,689 (GRCm39) |
I423T |
probably damaging |
Het |
| Zfp592 |
C |
A |
7: 80,673,443 (GRCm39) |
P136T |
probably damaging |
Het |
| Zfp783 |
T |
A |
6: 47,922,819 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp804b |
A |
T |
5: 6,821,756 (GRCm39) |
S400T |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAGGTAAAGGCCATTATC -3'
(R):5'- AGGTTCACTAACGTGTGTGC -3'
Sequencing Primer
(F):5'- CCATTATCAGAAGGAGGAAGAGTGTC -3'
(R):5'- GGTTCACTAACGTGTGTGCATCATAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation