Incidental Mutation 'R2680:Snap91'
| ID |
250930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snap91
|
| Ensembl Gene |
ENSMUSG00000033419 |
| Gene Name |
synaptosomal-associated protein 91 |
| Synonyms |
F1-20, 91kDa, AP180 |
| MMRRC Submission |
040433-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R2680 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
86647976-86762707 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 86761603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036347]
[ENSMUST00000074468]
[ENSMUST00000074501]
[ENSMUST00000098495]
[ENSMUST00000191290]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036347
AA Change: M1K
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: M1K
| 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 null
Transcript: ENSMUST00000074468
AA Change: M1K
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: M1K
| 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 null
Transcript: ENSMUST00000074501
AA Change: M1K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
AA Change: M1K
| 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 null
Transcript: ENSMUST00000098495
AA Change: M1K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: M1K
| 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 |
probably null
Transcript: ENSMUST00000191290
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141065
Gene: ENSMUSG00000033419
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
5.2e-50 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC024139 |
A |
G |
15: 76,005,939 (GRCm39) |
W421R |
probably damaging |
Het |
| Car11 |
T |
C |
7: 45,351,909 (GRCm39) |
S113P |
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,510,267 (GRCm39) |
A582T |
possibly damaging |
Het |
| Cct8l1 |
A |
G |
5: 25,722,133 (GRCm39) |
T283A |
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,419,043 (GRCm39) |
I1118V |
probably benign |
Het |
| Copa |
C |
T |
1: 171,948,971 (GRCm39) |
Q1199* |
probably null |
Het |
| Cpd |
A |
T |
11: 76,681,825 (GRCm39) |
N1140K |
probably benign |
Het |
| Cspp1 |
A |
G |
1: 10,174,530 (GRCm39) |
D661G |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,466,474 (GRCm39) |
Q729R |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,924,751 (GRCm39) |
I2168V |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,609,681 (GRCm39) |
R2821H |
probably damaging |
Het |
| Ercc5 |
T |
C |
1: 44,196,133 (GRCm39) |
V42A |
probably benign |
Het |
| Evc |
A |
G |
5: 37,467,581 (GRCm39) |
V566A |
probably benign |
Het |
| Fcrl2 |
T |
C |
3: 87,164,656 (GRCm39) |
Y290C |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,539,364 (GRCm39) |
R171G |
probably damaging |
Het |
| Galnt17 |
G |
A |
5: 131,140,661 (GRCm39) |
P152L |
probably damaging |
Het |
| Gfi1 |
A |
G |
5: 107,869,297 (GRCm39) |
L245P |
probably damaging |
Het |
| Heatr4 |
T |
C |
12: 84,027,237 (GRCm39) |
K7E |
possibly damaging |
Het |
| Ifit3b |
A |
G |
19: 34,589,705 (GRCm39) |
N294D |
probably benign |
Het |
| Ift74 |
A |
G |
4: 94,541,265 (GRCm39) |
Y230C |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,232,875 (GRCm39) |
V1953I |
probably benign |
Het |
| Ikzf5 |
T |
C |
7: 130,998,490 (GRCm39) |
D14G |
probably damaging |
Het |
| Il12rb2 |
T |
A |
6: 67,331,789 (GRCm39) |
T259S |
possibly damaging |
Het |
| Itgae |
T |
A |
11: 73,005,752 (GRCm39) |
D305E |
probably damaging |
Het |
| Kif23 |
A |
C |
9: 61,844,758 (GRCm39) |
D90E |
probably benign |
Het |
| Kprp |
A |
G |
3: 92,731,770 (GRCm39) |
F427L |
unknown |
Het |
| Lmnb1 |
T |
A |
18: 56,864,177 (GRCm39) |
Y261N |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,016,981 (GRCm39) |
V17A |
probably benign |
Het |
| Mfap4 |
T |
C |
11: 61,378,057 (GRCm39) |
Y190H |
probably benign |
Het |
| Mlh1 |
T |
C |
9: 111,065,085 (GRCm39) |
|
probably null |
Het |
| Mocos |
C |
A |
18: 24,809,686 (GRCm39) |
Q430K |
probably damaging |
Het |
| Ndst2 |
A |
G |
14: 20,774,822 (GRCm39) |
F794L |
probably damaging |
Het |
| Nedd4l |
A |
T |
18: 65,296,201 (GRCm39) |
I197F |
possibly damaging |
Het |
| Nefm |
A |
G |
14: 68,361,235 (GRCm39) |
L343P |
probably damaging |
Het |
| Nfatc4 |
A |
G |
14: 56,070,291 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,148,655 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
A |
T |
13: 65,342,157 (GRCm39) |
L496* |
probably null |
Het |
| Nom1 |
T |
C |
5: 29,648,415 (GRCm39) |
F654S |
probably damaging |
Het |
| Or4k2 |
A |
T |
14: 50,424,304 (GRCm39) |
Y123* |
probably null |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,639 (GRCm39) |
K540E |
possibly damaging |
Het |
| Pde4dip |
T |
C |
3: 97,608,933 (GRCm39) |
N1974S |
possibly damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,477,131 (GRCm39) |
|
probably null |
Het |
| Pik3ca |
C |
T |
3: 32,490,697 (GRCm39) |
R115* |
probably null |
Het |
| Pik3ca |
T |
C |
3: 32,498,034 (GRCm39) |
I492T |
probably benign |
Het |
| Ppp1ca |
G |
A |
19: 4,244,594 (GRCm39) |
E218K |
possibly damaging |
Het |
| Prex1 |
G |
T |
2: 166,443,692 (GRCm39) |
D492E |
possibly damaging |
Het |
| Scaf8 |
T |
C |
17: 3,247,866 (GRCm39) |
V1063A |
possibly damaging |
Het |
| Scn3a |
G |
T |
2: 65,366,880 (GRCm39) |
N47K |
probably benign |
Het |
| Sec61a2 |
G |
T |
2: 5,878,556 (GRCm39) |
N348K |
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,234,715 (GRCm39) |
E166G |
probably damaging |
Het |
| Slc19a2 |
C |
A |
1: 164,076,982 (GRCm39) |
T54K |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,249,113 (GRCm39) |
I765F |
probably damaging |
Het |
| Spef1l |
T |
C |
7: 139,558,474 (GRCm39) |
D41G |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,195,592 (GRCm39) |
H1619R |
probably damaging |
Het |
| Tbl1xr1 |
C |
T |
3: 22,245,615 (GRCm39) |
T207M |
possibly damaging |
Het |
| Tchp |
T |
C |
5: 114,847,580 (GRCm39) |
|
probably null |
Het |
| Tln1 |
A |
T |
4: 43,539,668 (GRCm39) |
F1581Y |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,922,594 (GRCm39) |
V2469A |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,055 (GRCm39) |
F165L |
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,322,178 (GRCm39) |
D173G |
possibly damaging |
Het |
| Vmn2r6 |
A |
C |
3: 64,445,707 (GRCm39) |
S673A |
possibly damaging |
Het |
| Vta1 |
G |
A |
10: 14,581,171 (GRCm39) |
|
probably benign |
Het |
| Wwc1 |
T |
C |
11: 35,766,756 (GRCm39) |
T500A |
probably benign |
Het |
| Zfp784 |
T |
A |
7: 5,039,116 (GRCm39) |
Q147H |
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 |
|
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 |
|
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'- ACAGACTGCCAAGGCCATG -3'
(R):5'- GATGGACCAACTGGGCTTG -3'
Sequencing Primer
(F):5'- GCCTTTGAGCCCCTATGG -3'
(R):5'- CAACTGGGCTTGGCGCG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation