Incidental Mutation 'R4641:Snap91'
ID |
351644 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snap91
|
Ensembl Gene |
ENSMUSG00000033419 |
Gene Name |
synaptosomal-associated protein 91 |
Synonyms |
F1-20, 91kDa, AP180 |
MMRRC Submission |
041903-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.879)
|
Stock # |
R4641 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
86647976-86762707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86761528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 26
(V26A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074066
(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: V26A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000046189 Gene: ENSMUSG00000033419 AA Change: V26A
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: V26A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000074066 Gene: ENSMUSG00000033419 AA Change: V26A
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: V26A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000074095 Gene: ENSMUSG00000033419 AA Change: V26A
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: V26A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000096096 Gene: ENSMUSG00000033419 AA Change: V26A
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 |
possibly damaging
Transcript: ENSMUST00000191290
AA Change: V26A
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141065 Gene: ENSMUSG00000033419 AA Change: V26A
Domain | Start | End | E-Value | Type |
ENTH
|
20 |
145 |
5.2e-50 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
A |
10: 79,841,615 (GRCm39) |
|
probably null |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Dsg3 |
T |
A |
18: 20,653,615 (GRCm39) |
F54I |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,045,892 (GRCm39) |
S619L |
probably benign |
Het |
Eif1ad3 |
A |
G |
12: 87,843,446 (GRCm39) |
Y31C |
probably damaging |
Het |
Eif1ad5 |
A |
G |
12: 87,946,852 (GRCm39) |
D98G |
probably benign |
Het |
Erlec1 |
G |
A |
11: 30,898,442 (GRCm39) |
Q10* |
probably null |
Het |
Fbxw14 |
A |
G |
9: 109,107,750 (GRCm39) |
|
probably null |
Het |
Fhod1 |
C |
T |
8: 106,056,224 (GRCm39) |
R1163H |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gm4846 |
G |
A |
1: 166,311,462 (GRCm39) |
P466S |
probably damaging |
Het |
Ift122 |
A |
T |
6: 115,865,726 (GRCm39) |
K339* |
probably null |
Het |
Il6st |
T |
C |
13: 112,625,064 (GRCm39) |
S227P |
probably damaging |
Het |
Letmd1 |
A |
G |
15: 100,375,708 (GRCm39) |
Y198C |
probably damaging |
Het |
Map3k4 |
A |
T |
17: 12,482,932 (GRCm39) |
L595Q |
probably damaging |
Het |
Mdc1 |
C |
G |
17: 36,168,361 (GRCm39) |
R1656G |
probably benign |
Het |
Megf11 |
C |
T |
9: 64,597,407 (GRCm39) |
S662L |
possibly damaging |
Het |
Mrps25 |
T |
C |
6: 92,160,881 (GRCm39) |
E25G |
probably benign |
Het |
Myh2 |
G |
T |
11: 67,085,520 (GRCm39) |
G1815C |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,393,867 (GRCm39) |
D2353G |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
P2rx5 |
A |
T |
11: 73,058,390 (GRCm39) |
H275L |
possibly damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
Rnf123 |
T |
C |
9: 107,935,786 (GRCm39) |
D920G |
probably damaging |
Het |
Slc44a2 |
A |
G |
9: 21,258,178 (GRCm39) |
Y474C |
probably damaging |
Het |
Slc9a4 |
T |
A |
1: 40,646,285 (GRCm39) |
F439I |
probably damaging |
Het |
Spata31d1c |
C |
A |
13: 65,182,862 (GRCm39) |
Q135K |
probably benign |
Het |
Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
Tlk2 |
T |
C |
11: 105,166,809 (GRCm39) |
I669T |
probably benign |
Het |
Tmem273 |
A |
G |
14: 32,528,839 (GRCm39) |
D68G |
probably damaging |
Het |
Ttc38 |
T |
C |
15: 85,728,659 (GRCm39) |
S204P |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,617,155 (GRCm39) |
Y16403F |
probably damaging |
Het |
Ttyh2 |
G |
T |
11: 114,592,609 (GRCm39) |
W213L |
probably damaging |
Het |
Ugt2a2 |
A |
T |
5: 87,610,755 (GRCm39) |
D360E |
probably damaging |
Het |
Vwa5b2 |
A |
T |
16: 20,423,393 (GRCm39) |
H1102L |
probably damaging |
Het |
Zbtb41 |
A |
T |
1: 139,370,557 (GRCm39) |
T665S |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,807,828 (GRCm39) |
I1739V |
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 |
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'- GATCGACTCGATGGTGAGCC -3'
(R):5'- ATGGACCAACTGGGCTTGG -3'
Sequencing Primer
(F):5'- TGAGCCAGTTCCCAAGGCTTC -3'
(R):5'- TGGTCCCAAGAGGCGGTG -3'
|
Posted On |
2015-10-08 |