Incidental Mutation 'IGL03134:Stxbp4'
ID |
453181 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stxbp4
|
Ensembl Gene |
ENSMUSG00000020546 |
Gene Name |
syntaxin binding protein 4 |
Synonyms |
6030470M02Rik, Synip |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03134 (G1)
|
Quality Score |
79 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
90367318-90528910 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 90498010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 96
(R96S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116191
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020858]
[ENSMUST00000107872]
[ENSMUST00000107875]
[ENSMUST00000143203]
|
AlphaFold |
Q9WV89 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020858
AA Change: R96S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020858 Gene: ENSMUSG00000020546 AA Change: R96S
Domain | Start | End | E-Value | Type |
PDZ
|
29 |
109 |
6.13e-10 |
SMART |
low complexity region
|
131 |
154 |
N/A |
INTRINSIC |
coiled coil region
|
298 |
409 |
N/A |
INTRINSIC |
low complexity region
|
504 |
522 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107872
AA Change: R96S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103504 Gene: ENSMUSG00000020546 AA Change: R96S
Domain | Start | End | E-Value | Type |
PDZ
|
29 |
109 |
6.13e-10 |
SMART |
low complexity region
|
131 |
154 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107875
AA Change: R96S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103507 Gene: ENSMUSG00000020546 AA Change: R96S
Domain | Start | End | E-Value | Type |
PDZ
|
29 |
109 |
6.13e-10 |
SMART |
low complexity region
|
131 |
154 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143203
AA Change: R96S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000116191 Gene: ENSMUSG00000020546 AA Change: R96S
Domain | Start | End | E-Value | Type |
PDZ
|
29 |
109 |
6.13e-10 |
SMART |
low complexity region
|
131 |
154 |
N/A |
INTRINSIC |
coiled coil region
|
298 |
409 |
N/A |
INTRINSIC |
WW
|
501 |
533 |
1.11e-10 |
SMART |
|
Meta Mutation Damage Score |
0.1608 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414J04Rik |
A |
T |
11: 21,457,249 (GRCm39) |
|
noncoding transcript |
Het |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Afdn |
C |
T |
17: 14,066,548 (GRCm39) |
T580I |
probably benign |
Het |
Ankfy1 |
G |
T |
11: 72,603,011 (GRCm39) |
L13F |
probably damaging |
Het |
Arhgap12 |
T |
C |
18: 6,111,936 (GRCm39) |
T143A |
probably benign |
Het |
Arsi |
T |
G |
18: 61,050,424 (GRCm39) |
W436G |
probably damaging |
Het |
Bcl2l10 |
C |
T |
9: 75,255,480 (GRCm39) |
T99M |
probably damaging |
Het |
Cacna1a |
A |
G |
8: 85,285,716 (GRCm39) |
Q740R |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,350,651 (GRCm39) |
F398S |
probably damaging |
Het |
Ccrl2 |
A |
C |
9: 110,884,725 (GRCm39) |
Y258D |
probably damaging |
Het |
Cemip |
T |
A |
7: 83,648,445 (GRCm39) |
D38V |
probably damaging |
Het |
Chd6 |
C |
G |
2: 160,807,403 (GRCm39) |
C1937S |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Col1a2 |
T |
G |
6: 4,521,387 (GRCm39) |
|
probably benign |
Het |
Col4a1 |
T |
C |
8: 11,290,069 (GRCm39) |
|
probably null |
Het |
Cops7b |
T |
A |
1: 86,520,056 (GRCm39) |
L69Q |
probably damaging |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Ddx3y |
T |
A |
Y: 1,278,949 (GRCm39) |
D163V |
possibly damaging |
Het |
Dnajc19 |
A |
G |
3: 34,132,884 (GRCm39) |
|
probably benign |
Het |
Fhip2b |
T |
C |
14: 70,826,149 (GRCm39) |
T288A |
possibly damaging |
Het |
G2e3 |
T |
A |
12: 51,410,813 (GRCm39) |
|
probably benign |
Het |
Gimap7 |
A |
G |
6: 48,700,435 (GRCm39) |
N7S |
probably benign |
Het |
Gkap1 |
G |
A |
13: 58,411,746 (GRCm39) |
|
probably benign |
Het |
Gm3404 |
G |
A |
5: 146,463,706 (GRCm39) |
R117Q |
probably benign |
Het |
Herc1 |
T |
TN |
9: 66,341,345 (GRCm39) |
|
probably benign |
Homo |
Homer3 |
T |
C |
8: 70,738,985 (GRCm39) |
Y115H |
probably benign |
Het |
Ighv10-1 |
T |
A |
12: 114,442,689 (GRCm39) |
M99L |
probably benign |
Het |
Kdm2b |
A |
C |
5: 123,070,737 (GRCm39) |
S398R |
probably damaging |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Mettl25 |
G |
A |
10: 105,661,888 (GRCm39) |
Q361* |
probably null |
Het |
Mkrn2 |
T |
A |
6: 115,590,496 (GRCm39) |
I284N |
probably damaging |
Het |
Mmp14 |
T |
A |
14: 54,676,563 (GRCm39) |
N369K |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Myo6 |
C |
G |
9: 80,199,749 (GRCm39) |
N1019K |
probably damaging |
Het |
Myo7a |
C |
T |
7: 97,705,974 (GRCm39) |
V1857I |
probably damaging |
Het |
Nhsl3 |
A |
G |
4: 129,116,280 (GRCm39) |
S783P |
possibly damaging |
Het |
Nktr |
T |
C |
9: 121,575,532 (GRCm39) |
S347P |
probably damaging |
Het |
Nup210 |
T |
G |
6: 91,007,172 (GRCm39) |
D548A |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,098,194 (GRCm39) |
Y1382C |
possibly damaging |
Het |
Or14c41 |
G |
A |
7: 86,235,220 (GRCm39) |
V246M |
probably damaging |
Het |
Or1e23 |
T |
A |
11: 73,407,941 (GRCm39) |
Y28F |
probably benign |
Het |
Pax8 |
T |
C |
2: 24,311,403 (GRCm39) |
|
probably benign |
Het |
Pcdhgb7 |
A |
G |
18: 37,884,935 (GRCm39) |
Y35C |
probably damaging |
Het |
Pld1 |
A |
T |
3: 28,083,316 (GRCm39) |
R145S |
probably benign |
Het |
Pom121 |
G |
A |
5: 135,410,935 (GRCm39) |
P741S |
unknown |
Het |
Rarb |
T |
C |
14: 16,436,910 (GRCm38) |
N204D |
probably damaging |
Het |
Sdc3 |
A |
G |
4: 130,548,815 (GRCm39) |
E337G |
probably benign |
Het |
Serpina9 |
T |
C |
12: 103,967,696 (GRCm39) |
K233R |
probably null |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Sspo |
T |
A |
6: 48,427,999 (GRCm39) |
M159K |
probably benign |
Het |
Tg |
A |
C |
15: 66,612,567 (GRCm39) |
E375A |
probably damaging |
Het |
Tmem176b |
A |
G |
6: 48,815,287 (GRCm39) |
V2A |
probably benign |
Het |
Toporsl |
G |
A |
4: 52,610,281 (GRCm39) |
C58Y |
probably damaging |
Het |
Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
Vav3 |
T |
C |
3: 109,470,410 (GRCm39) |
|
probably benign |
Het |
Zfp180 |
T |
A |
7: 23,804,170 (GRCm39) |
D196E |
possibly damaging |
Het |
Zfp407 |
C |
T |
18: 84,228,080 (GRCm39) |
S1843N |
probably damaging |
Het |
|
Other mutations in Stxbp4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00988:Stxbp4
|
APN |
11 |
90,426,338 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01312:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
IGL01313:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
IGL01314:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
IGL01316:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
IGL01377:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
IGL01380:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
IGL01385:Stxbp4
|
APN |
11 |
90,431,074 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01408:Stxbp4
|
APN |
11 |
90,512,475 (GRCm39) |
splice site |
probably benign |
|
IGL02573:Stxbp4
|
APN |
11 |
90,431,095 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02707:Stxbp4
|
APN |
11 |
90,428,759 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02809:Stxbp4
|
APN |
11 |
90,491,010 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02900:Stxbp4
|
APN |
11 |
90,497,861 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03177:Stxbp4
|
APN |
11 |
90,462,579 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03397:Stxbp4
|
APN |
11 |
90,431,060 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02799:Stxbp4
|
UTSW |
11 |
90,385,426 (GRCm39) |
critical splice donor site |
probably null |
|
R0005:Stxbp4
|
UTSW |
11 |
90,439,743 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0487:Stxbp4
|
UTSW |
11 |
90,483,186 (GRCm39) |
missense |
probably benign |
0.00 |
R0930:Stxbp4
|
UTSW |
11 |
90,512,526 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R1633:Stxbp4
|
UTSW |
11 |
90,430,986 (GRCm39) |
splice site |
probably benign |
|
R3785:Stxbp4
|
UTSW |
11 |
90,426,441 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4359:Stxbp4
|
UTSW |
11 |
90,385,470 (GRCm39) |
nonsense |
probably null |
|
R4591:Stxbp4
|
UTSW |
11 |
90,485,606 (GRCm39) |
missense |
probably benign |
0.33 |
R4756:Stxbp4
|
UTSW |
11 |
90,498,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R5095:Stxbp4
|
UTSW |
11 |
90,439,801 (GRCm39) |
missense |
probably benign |
0.00 |
R5870:Stxbp4
|
UTSW |
11 |
90,428,782 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6268:Stxbp4
|
UTSW |
11 |
90,431,027 (GRCm39) |
nonsense |
probably null |
|
R6460:Stxbp4
|
UTSW |
11 |
90,497,811 (GRCm39) |
missense |
probably benign |
0.35 |
R6479:Stxbp4
|
UTSW |
11 |
90,510,013 (GRCm39) |
missense |
probably damaging |
0.99 |
R7139:Stxbp4
|
UTSW |
11 |
90,497,835 (GRCm39) |
nonsense |
probably null |
|
R7349:Stxbp4
|
UTSW |
11 |
90,482,937 (GRCm39) |
splice site |
probably null |
|
R7481:Stxbp4
|
UTSW |
11 |
90,485,639 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7812:Stxbp4
|
UTSW |
11 |
90,485,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R8903:Stxbp4
|
UTSW |
11 |
90,426,267 (GRCm39) |
missense |
unknown |
|
R9023:Stxbp4
|
UTSW |
11 |
90,426,249 (GRCm39) |
missense |
unknown |
|
R9100:Stxbp4
|
UTSW |
11 |
90,426,320 (GRCm39) |
missense |
possibly damaging |
0.77 |
V8831:Stxbp4
|
UTSW |
11 |
90,371,497 (GRCm39) |
missense |
probably benign |
0.34 |
Z1176:Stxbp4
|
UTSW |
11 |
90,371,497 (GRCm39) |
missense |
probably benign |
0.34 |
Z1177:Stxbp4
|
UTSW |
11 |
90,490,972 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Stxbp4
|
UTSW |
11 |
90,483,157 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Stxbp4
|
UTSW |
11 |
90,371,497 (GRCm39) |
missense |
probably benign |
0.34 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTGGAGTCCTGAGTCTGG -3'
(R):5'- AAGCCAGGAGATCAACTTGTC -3'
Sequencing Primer
(F):5'- AGTCTGGGGAGTGGATGAAGTC -3'
(R):5'- GCATAATTACCAGAGCCAAGTTG -3'
|
Posted On |
2017-01-30 |