Incidental Mutation 'R7690:Snap91'
ID |
593344 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snap91
|
Ensembl Gene |
ENSMUSG00000033419 |
Gene Name |
synaptosomal-associated protein 91 |
Synonyms |
F1-20, 91kDa, AP180 |
MMRRC Submission |
045754-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.867)
|
Stock # |
R7690 (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 86707031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 253
(V253A)
|
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 damaging
Transcript: ENSMUST00000036347
AA Change: V253A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046189 Gene: ENSMUSG00000033419 AA Change: V253A
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: V253A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074066 Gene: ENSMUSG00000033419 AA Change: V253A
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: V253A
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000074095 Gene: ENSMUSG00000033419 AA Change: V253A
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 |
possibly damaging
Transcript: ENSMUST00000098495
AA Change: V253A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000096096 Gene: ENSMUSG00000033419 AA Change: V253A
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 |
|
Meta Mutation Damage Score |
0.6685 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
97% (57/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,353,313 (GRCm39) |
T710S |
probably benign |
Het |
Adgrl2 |
A |
G |
3: 148,522,934 (GRCm39) |
L430P |
|
Het |
Agap1 |
T |
C |
1: 89,770,793 (GRCm39) |
S648P |
probably benign |
Het |
Alox5 |
T |
C |
6: 116,392,417 (GRCm39) |
H368R |
probably damaging |
Het |
Ano2 |
T |
C |
6: 125,990,161 (GRCm39) |
F761L |
probably damaging |
Het |
Aox4 |
T |
C |
1: 58,303,076 (GRCm39) |
V1169A |
probably damaging |
Het |
Apbb1ip |
T |
A |
2: 22,706,996 (GRCm39) |
M11K |
unknown |
Het |
Arl5a |
G |
T |
2: 52,302,077 (GRCm39) |
H112Q |
possibly damaging |
Het |
Ccdc18 |
C |
T |
5: 108,376,528 (GRCm39) |
T1323I |
probably benign |
Het |
Cmtm5 |
G |
A |
14: 55,173,938 (GRCm39) |
|
probably benign |
Het |
Cul2 |
T |
C |
18: 3,419,420 (GRCm39) |
Y194H |
probably benign |
Het |
Daglb |
T |
C |
5: 143,479,938 (GRCm39) |
I415T |
possibly damaging |
Het |
Ddx28 |
A |
G |
8: 106,736,963 (GRCm39) |
V365A |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,146,063 (GRCm39) |
|
probably null |
Het |
Eppk1 |
T |
A |
15: 75,995,946 (GRCm39) |
T312S |
probably benign |
Het |
Erich4 |
C |
A |
7: 25,314,710 (GRCm39) |
V68L |
possibly damaging |
Het |
Fam171a2 |
G |
A |
11: 102,328,660 (GRCm39) |
P700S |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,909,477 (GRCm39) |
N2175S |
probably damaging |
Het |
Fcrl6 |
T |
G |
1: 172,426,223 (GRCm39) |
R191S |
probably damaging |
Het |
Fpgt |
A |
G |
3: 154,793,467 (GRCm39) |
S187P |
probably damaging |
Het |
Gapvd1 |
T |
G |
2: 34,619,134 (GRCm39) |
T80P |
possibly damaging |
Het |
Gclm |
A |
G |
3: 122,039,705 (GRCm39) |
N24S |
probably damaging |
Het |
Gdf15 |
A |
G |
8: 71,083,997 (GRCm39) |
I89T |
possibly damaging |
Het |
Gpn2 |
A |
G |
4: 133,318,693 (GRCm39) |
E306G |
probably damaging |
Het |
Iars2 |
A |
T |
1: 185,053,194 (GRCm39) |
L359Q |
probably damaging |
Het |
Kbtbd4 |
T |
G |
2: 90,736,240 (GRCm39) |
C84G |
possibly damaging |
Het |
Manea |
A |
G |
4: 26,327,910 (GRCm39) |
V377A |
probably benign |
Het |
Map4 |
C |
T |
9: 109,828,861 (GRCm39) |
T82I |
probably damaging |
Het |
Mocos |
C |
T |
18: 24,797,082 (GRCm39) |
H81Y |
probably damaging |
Het |
Mtx1 |
T |
A |
3: 89,120,088 (GRCm39) |
T87S |
|
Het |
Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
Myom2 |
A |
T |
8: 15,161,717 (GRCm39) |
|
probably null |
Het |
Mzt1 |
C |
T |
14: 99,278,024 (GRCm39) |
C48Y |
probably damaging |
Het |
Nlrp9b |
C |
A |
7: 19,758,295 (GRCm39) |
P511T |
probably benign |
Het |
Noc2l |
A |
G |
4: 156,322,088 (GRCm39) |
E135G |
probably benign |
Het |
Nova1 |
G |
A |
12: 46,767,549 (GRCm39) |
P124L |
unknown |
Het |
Pax8 |
T |
A |
2: 24,331,682 (GRCm39) |
T134S |
probably benign |
Het |
Pde4a |
T |
A |
9: 21,077,300 (GRCm39) |
L26Q |
probably damaging |
Het |
Pde6b |
G |
A |
5: 108,567,384 (GRCm39) |
E254K |
probably damaging |
Het |
Pdlim7 |
A |
G |
13: 55,656,744 (GRCm39) |
I70T |
probably damaging |
Het |
Pinx1 |
T |
A |
14: 64,101,660 (GRCm39) |
|
probably null |
Het |
Pomt2 |
C |
A |
12: 87,177,141 (GRCm39) |
R352L |
probably damaging |
Het |
Rapgef5 |
G |
A |
12: 117,685,105 (GRCm39) |
V519I |
possibly damaging |
Het |
Rnps1 |
A |
G |
17: 24,637,168 (GRCm39) |
E16G |
unknown |
Het |
Slc4a5 |
T |
C |
6: 83,262,854 (GRCm39) |
F782S |
probably damaging |
Het |
Syce3 |
T |
C |
15: 89,281,544 (GRCm39) |
M32V |
possibly damaging |
Het |
Tcaf3 |
C |
A |
6: 42,574,069 (GRCm39) |
V48L |
probably damaging |
Het |
Tenm4 |
T |
C |
7: 96,512,740 (GRCm39) |
V1366A |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,908,494 (GRCm39) |
M1382I |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,908,501 (GRCm39) |
G1385R |
probably damaging |
Het |
Top3a |
G |
T |
11: 60,647,206 (GRCm39) |
L238I |
probably damaging |
Het |
Trim9 |
A |
T |
12: 70,295,117 (GRCm39) |
N742K |
probably benign |
Het |
Trp63 |
T |
A |
16: 25,695,483 (GRCm39) |
Y482N |
unknown |
Het |
Ttc23 |
T |
G |
7: 67,319,918 (GRCm39) |
F192V |
possibly damaging |
Het |
Uck1 |
A |
G |
2: 32,148,184 (GRCm39) |
V180A |
probably benign |
Het |
Vwa5b1 |
G |
A |
4: 138,318,244 (GRCm39) |
T541I |
probably damaging |
Het |
Zfp456 |
G |
T |
13: 67,514,913 (GRCm39) |
H264Q |
probably damaging |
Het |
Zfpm2 |
T |
G |
15: 40,818,162 (GRCm39) |
V165G |
possibly damaging |
Het |
Zup1 |
C |
T |
10: 33,806,151 (GRCm39) |
|
probably null |
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 |
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'- TGGACCAACTTGTGAAGAGCAG -3'
(R):5'- CCCTATGCTTGAAGGAGTGG -3'
Sequencing Primer
(F):5'- CTACTTGAGCTCATCTGACAGGGAG -3'
(R):5'- CCTATGCTTGAAGGAGTGGTTATAAC -3'
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Posted On |
2019-11-12 |