Incidental Mutation 'R3963:Snap91'
| ID |
312193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snap91
|
| Ensembl Gene |
ENSMUSG00000033419 |
| Gene Name |
synaptosomal-associated protein 91 |
| Synonyms |
F1-20, 91kDa, AP180 |
| MMRRC Submission |
040932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R3963 (G1)
|
| Quality Score |
191 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
86647976-86762707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86657665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 509
(W509R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000036347
AA Change: W797R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: W797R
| 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 |
possibly damaging
Transcript: ENSMUST00000074468
AA Change: W802R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: W802R
| 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: W509R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
AA Change: W509R
| 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: W767R
|
| SMART Domains |
Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: W767R
| 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
|
| Meta Mutation Damage Score |
0.1763 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (61/61) |
| 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 |
|---|
| Adamts18 |
T |
C |
8: 114,504,443 (GRCm39) |
D59G |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,728,245 (GRCm39) |
S783T |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,468,025 (GRCm39) |
D1725G |
probably damaging |
Het |
| B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
| Btbd8 |
G |
A |
5: 107,655,222 (GRCm39) |
C1007Y |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,252,011 (GRCm39) |
T101K |
possibly damaging |
Het |
| Ccdc85a |
A |
C |
11: 28,526,396 (GRCm39) |
M376R |
probably benign |
Het |
| Cd200r1 |
T |
A |
16: 44,613,158 (GRCm39) |
C255S |
probably benign |
Het |
| Cdc23 |
T |
C |
18: 34,779,972 (GRCm39) |
M119V |
probably benign |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Clptm1 |
C |
T |
7: 19,372,121 (GRCm39) |
W238* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,842,047 (GRCm39) |
V302A |
probably damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,431,969 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
A |
9: 64,769,613 (GRCm39) |
I440N |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,184,284 (GRCm39) |
V35I |
probably damaging |
Het |
| Dyrk1a |
T |
A |
16: 94,464,605 (GRCm39) |
M71K |
probably benign |
Het |
| Exoc3l2 |
G |
A |
7: 19,229,181 (GRCm39) |
G200S |
probably benign |
Het |
| Fhip2a |
T |
C |
19: 57,361,442 (GRCm39) |
L122P |
possibly damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,258,914 (GRCm39) |
I114N |
probably damaging |
Het |
| Fpr-rs6 |
G |
A |
17: 20,402,479 (GRCm39) |
P294L |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,940,638 (GRCm39) |
T428A |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,966,228 (GRCm39) |
M1K |
probably null |
Het |
| Gdf3 |
C |
T |
6: 122,583,717 (GRCm39) |
V217I |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,292,397 (GRCm39) |
|
probably null |
Het |
| Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
| Itpkc |
T |
C |
7: 26,926,934 (GRCm39) |
T327A |
probably damaging |
Het |
| Jade1 |
T |
C |
3: 41,555,845 (GRCm39) |
V304A |
probably damaging |
Het |
| Leo1 |
C |
A |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
A |
T |
3: 157,866,042 (GRCm39) |
L1233Q |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Matn2 |
C |
A |
15: 34,388,937 (GRCm39) |
Y342* |
probably null |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Mlh3 |
T |
C |
12: 85,315,454 (GRCm39) |
H244R |
possibly damaging |
Het |
| Mmaa |
A |
T |
8: 79,994,843 (GRCm39) |
V321E |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 109,842,184 (GRCm39) |
L196F |
probably damaging |
Het |
| Oas1e |
A |
G |
5: 120,932,205 (GRCm39) |
V146A |
probably damaging |
Het |
| Or52z1 |
G |
T |
7: 103,437,241 (GRCm39) |
T81K |
probably benign |
Het |
| Plcxd2 |
T |
C |
16: 45,800,864 (GRCm39) |
K120R |
probably damaging |
Het |
| Prex2 |
G |
T |
1: 11,180,581 (GRCm39) |
C382F |
possibly damaging |
Het |
| Psg29 |
T |
A |
7: 16,942,510 (GRCm39) |
H170Q |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,427,661 (GRCm39) |
T747A |
probably damaging |
Het |
| Qki |
G |
A |
17: 10,435,394 (GRCm39) |
|
probably benign |
Het |
| Rpusd2 |
A |
G |
2: 118,869,085 (GRCm39) |
T503A |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Slco1a5 |
C |
T |
6: 142,194,370 (GRCm39) |
|
probably null |
Het |
| Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
| Tmem267 |
A |
T |
13: 119,629,175 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Tnfaip8 |
C |
A |
18: 50,223,653 (GRCm39) |
H154N |
possibly damaging |
Het |
| Trim35 |
T |
C |
14: 66,541,503 (GRCm39) |
L209P |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,954,816 (GRCm39) |
E60G |
possibly damaging |
Het |
| Ttf2 |
T |
C |
3: 100,849,136 (GRCm39) |
|
probably benign |
Het |
| Tubg2 |
T |
C |
11: 101,051,224 (GRCm39) |
|
probably null |
Het |
| Ubap1l |
C |
T |
9: 65,276,477 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
A |
T |
4: 137,360,750 (GRCm39) |
R26* |
probably null |
Het |
| Vmn1r222 |
A |
G |
13: 23,417,102 (GRCm39) |
V37A |
probably benign |
Het |
| Vmn2r4 |
T |
A |
3: 64,322,572 (GRCm39) |
N49I |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,588 (GRCm39) |
C374S |
probably benign |
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 |
|
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'- GGAATGTACTGGAAAACCATTTCTG -3'
(R):5'- TGACTTCTAAGCCCAAGGAAAGC -3'
Sequencing Primer
(F):5'- CTGGAAAACCATTTCTGAAGTTTTAC -3'
(R):5'- GCATCCCAGAAAGCCACATG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation