Incidental Mutation 'R2233:Snap91'
ID |
240186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snap91
|
Ensembl Gene |
ENSMUSG00000033419 |
Gene Name |
synaptosomal-associated protein 91 |
Synonyms |
F1-20, 91kDa, AP180 |
MMRRC Submission |
040234-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.879)
|
Stock # |
R2233 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
86647976-86762707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86680624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 427
(T427A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074066
(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: T427A
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000046189 Gene: ENSMUSG00000033419 AA Change: T427A
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: T427A
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000074066 Gene: ENSMUSG00000033419 AA Change: T427A
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
|
SMART Domains |
Protein: ENSMUSP00000074095 Gene: ENSMUSG00000033419
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 benign
Transcript: ENSMUST00000098495
AA Change: T420A
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000096096 Gene: ENSMUSG00000033419 AA Change: T420A
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: ENSMUST00000189004
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190089
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190388
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
A |
G |
1: 63,584,671 (GRCm39) |
I360V |
probably benign |
Het |
Adarb1 |
A |
G |
10: 77,153,183 (GRCm39) |
V322A |
probably damaging |
Het |
Atad2b |
T |
G |
12: 5,056,745 (GRCm39) |
F867C |
probably damaging |
Het |
Ccdc24 |
T |
C |
4: 117,727,113 (GRCm39) |
K79R |
possibly damaging |
Het |
Cfap44 |
A |
G |
16: 44,271,888 (GRCm39) |
I1214V |
probably benign |
Het |
Chrm4 |
A |
G |
2: 91,758,875 (GRCm39) |
S428G |
probably benign |
Het |
Chrnb1 |
A |
T |
11: 69,686,428 (GRCm39) |
I64N |
probably damaging |
Het |
Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
Dazap1 |
A |
G |
10: 80,113,433 (GRCm39) |
K110E |
possibly damaging |
Het |
Dhx16 |
T |
C |
17: 36,198,778 (GRCm39) |
C737R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,313,343 (GRCm39) |
E6384G |
probably damaging |
Het |
Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
E2f4 |
T |
A |
8: 106,025,283 (GRCm39) |
V121E |
probably damaging |
Het |
Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fezf1 |
T |
C |
6: 23,246,002 (GRCm39) |
T388A |
probably damaging |
Het |
Gimap6 |
T |
A |
6: 48,681,418 (GRCm39) |
H72L |
possibly damaging |
Het |
Gm11149 |
A |
G |
9: 49,473,446 (GRCm39) |
|
probably benign |
Het |
Gm12695 |
C |
T |
4: 96,612,266 (GRCm39) |
R499Q |
probably damaging |
Het |
Grhl1 |
A |
G |
12: 24,658,510 (GRCm39) |
D385G |
probably damaging |
Het |
Hyou1 |
C |
T |
9: 44,300,388 (GRCm39) |
T855M |
probably benign |
Het |
Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
Kcnab1 |
T |
A |
3: 65,226,888 (GRCm39) |
V189D |
probably damaging |
Het |
Kifap3 |
T |
A |
1: 163,683,634 (GRCm39) |
D438E |
probably benign |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrrc41 |
G |
A |
4: 115,953,582 (GRCm39) |
R756Q |
possibly damaging |
Het |
Lrrc49 |
A |
T |
9: 60,505,440 (GRCm39) |
F538L |
possibly damaging |
Het |
Nphp3 |
G |
A |
9: 103,914,575 (GRCm39) |
R1052H |
probably benign |
Het |
Nynrin |
G |
A |
14: 56,109,524 (GRCm39) |
V1544I |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
Or9m1 |
G |
A |
2: 87,733,819 (GRCm39) |
S67F |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,417,113 (GRCm39) |
F577L |
probably damaging |
Het |
Otc |
A |
G |
X: 10,169,606 (GRCm39) |
Q216R |
probably benign |
Het |
Ppp1r12a |
A |
G |
10: 108,034,780 (GRCm39) |
I108M |
possibly damaging |
Het |
Prl7a1 |
C |
A |
13: 27,826,402 (GRCm39) |
|
probably null |
Het |
Prss16 |
T |
C |
13: 22,193,579 (GRCm39) |
D72G |
possibly damaging |
Het |
Qrsl1 |
T |
C |
10: 43,772,092 (GRCm39) |
K33E |
probably benign |
Het |
Rabepk |
A |
T |
2: 34,685,246 (GRCm39) |
I58N |
possibly damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,763,856 (GRCm39) |
H1403Q |
probably benign |
Het |
Rhobtb3 |
C |
A |
13: 76,020,484 (GRCm39) |
C606F |
possibly damaging |
Het |
Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
Scap |
T |
C |
9: 110,210,661 (GRCm39) |
C998R |
probably damaging |
Het |
Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
Sel1l2 |
T |
C |
2: 140,086,085 (GRCm39) |
Y502C |
probably damaging |
Het |
Sf3a2 |
G |
T |
10: 80,638,663 (GRCm39) |
A95S |
probably benign |
Het |
Sis |
A |
T |
3: 72,820,527 (GRCm39) |
F1412L |
probably benign |
Het |
Slc25a29 |
A |
T |
12: 108,801,587 (GRCm39) |
C9S |
possibly damaging |
Het |
St3gal6 |
A |
G |
16: 58,293,897 (GRCm39) |
F211L |
probably damaging |
Het |
Stab1 |
G |
A |
14: 30,883,837 (GRCm39) |
S240F |
probably benign |
Het |
Sun3 |
T |
A |
11: 8,973,371 (GRCm39) |
K109* |
probably null |
Het |
Syne1 |
T |
C |
10: 4,991,484 (GRCm39) |
N8410S |
probably benign |
Het |
Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
Tmem135 |
T |
C |
7: 88,803,282 (GRCm39) |
N297S |
probably damaging |
Het |
Tnk1 |
C |
T |
11: 69,746,017 (GRCm39) |
|
probably null |
Het |
Txnl4b |
A |
G |
8: 110,295,551 (GRCm39) |
|
probably benign |
Het |
Uck1 |
T |
C |
2: 32,148,315 (GRCm39) |
D167G |
probably damaging |
Het |
Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
Xylt2 |
C |
T |
11: 94,560,822 (GRCm39) |
V239M |
possibly damaging |
Het |
Zmpste24 |
T |
C |
4: 120,955,162 (GRCm39) |
D12G |
probably benign |
Het |
Zscan25 |
A |
G |
5: 145,220,502 (GRCm39) |
Y99C |
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 |
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'- TAGTGCCAGAACTACACGGAG -3'
(R):5'- AGGAGTCTGGTCTATCTCCTG -3'
Sequencing Primer
(F):5'- AGCTGACGAGTTTAGTACTGTCAAGC -3'
(R):5'- GAGTCTGGTCTATCTCCTGTCCTTTC -3'
|
Posted On |
2014-10-15 |