Incidental Mutation 'IGL02900:Stxbp4'
ID |
363554 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02900
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
90367318-90528910 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90497861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 146
(L146P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116191
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020858]
[ENSMUST00000107872]
[ENSMUST00000107875]
[ENSMUST00000143203]
|
AlphaFold |
Q9WV89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020858
AA Change: L146P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000020858 Gene: ENSMUSG00000020546 AA Change: L146P
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 benign
Transcript: ENSMUST00000107872
AA Change: L146P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000103504 Gene: ENSMUSG00000020546 AA Change: L146P
Domain | Start | End | E-Value | Type |
PDZ
|
29 |
109 |
6.13e-10 |
SMART |
low complexity region
|
131 |
154 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107875
AA Change: L146P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000103507 Gene: ENSMUSG00000020546 AA Change: L146P
Domain | Start | End | E-Value | Type |
PDZ
|
29 |
109 |
6.13e-10 |
SMART |
low complexity region
|
131 |
154 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143203
AA Change: L146P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000116191 Gene: ENSMUSG00000020546 AA Change: L146P
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
G |
T |
11: 99,728,774 (GRCm39) |
T23N |
possibly damaging |
Het |
Angpt4 |
T |
A |
2: 151,753,391 (GRCm39) |
V47E |
probably damaging |
Het |
Arhgef11 |
G |
A |
3: 87,640,467 (GRCm39) |
R1208Q |
probably benign |
Het |
Calb1 |
T |
C |
4: 15,895,695 (GRCm39) |
|
probably benign |
Het |
Capn11 |
G |
T |
17: 45,941,540 (GRCm39) |
|
probably null |
Het |
Carmil2 |
T |
A |
8: 106,422,151 (GRCm39) |
I1140N |
probably damaging |
Het |
Cnn3 |
A |
T |
3: 121,245,143 (GRCm39) |
T23S |
probably benign |
Het |
Colgalt2 |
C |
T |
1: 152,384,481 (GRCm39) |
T607M |
probably damaging |
Het |
Cyp46a1 |
T |
G |
12: 108,309,350 (GRCm39) |
V93G |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,227,344 (GRCm39) |
Y261C |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,878,886 (GRCm39) |
Y2715C |
probably damaging |
Het |
Dsg1a |
G |
T |
18: 20,461,713 (GRCm39) |
|
probably benign |
Het |
Eml4 |
C |
T |
17: 83,785,421 (GRCm39) |
P862L |
probably benign |
Het |
Gm5414 |
T |
C |
15: 101,536,242 (GRCm39) |
T128A |
probably damaging |
Het |
Gp9 |
G |
T |
6: 87,756,415 (GRCm39) |
W143C |
probably damaging |
Het |
Hipk2 |
T |
C |
6: 38,706,879 (GRCm39) |
I670V |
probably damaging |
Het |
Hoxa10 |
T |
C |
6: 52,209,541 (GRCm39) |
K77R |
possibly damaging |
Het |
Kcna1 |
T |
G |
6: 126,620,057 (GRCm39) |
S88R |
probably damaging |
Het |
Kif1b |
A |
T |
4: 149,265,266 (GRCm39) |
S1758T |
possibly damaging |
Het |
Klk1b11 |
A |
G |
7: 43,427,837 (GRCm39) |
T182A |
probably damaging |
Het |
Lrp1 |
G |
A |
10: 127,412,516 (GRCm39) |
|
probably benign |
Het |
Magi1 |
A |
G |
6: 93,663,854 (GRCm39) |
S991P |
probably damaging |
Het |
Mast4 |
T |
A |
13: 102,872,184 (GRCm39) |
T2203S |
probably benign |
Het |
Mxra8 |
A |
G |
4: 155,925,668 (GRCm39) |
|
probably null |
Het |
Mxra8 |
A |
G |
4: 155,925,576 (GRCm39) |
E95G |
possibly damaging |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Or14j9 |
A |
G |
17: 37,874,740 (GRCm39) |
I154T |
possibly damaging |
Het |
Or2f2 |
T |
A |
6: 42,767,808 (GRCm39) |
Y278* |
probably null |
Het |
Or8g2b |
T |
A |
9: 39,751,108 (GRCm39) |
I126N |
probably damaging |
Het |
Or8g4 |
A |
T |
9: 39,661,901 (GRCm39) |
H73L |
probably benign |
Het |
Pbx4 |
A |
G |
8: 70,319,216 (GRCm39) |
E249G |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,750,830 (GRCm39) |
E1727G |
probably benign |
Het |
Plec |
T |
G |
15: 76,070,414 (GRCm39) |
D932A |
probably damaging |
Het |
Pramel22 |
A |
T |
4: 143,382,085 (GRCm39) |
F204I |
possibly damaging |
Het |
Raph1 |
T |
C |
1: 60,542,022 (GRCm39) |
D364G |
probably damaging |
Het |
Rps29 |
T |
A |
12: 69,205,825 (GRCm39) |
H3L |
probably damaging |
Het |
Sema4c |
A |
T |
1: 36,589,826 (GRCm39) |
C509* |
probably null |
Het |
Srgap2 |
A |
T |
1: 131,339,534 (GRCm39) |
|
probably benign |
Het |
Stam2 |
A |
T |
2: 52,598,209 (GRCm39) |
D243E |
probably benign |
Het |
Teddm3 |
G |
T |
16: 20,971,900 (GRCm39) |
T223K |
probably benign |
Het |
Tfap2d |
A |
T |
1: 19,189,474 (GRCm39) |
N285Y |
probably damaging |
Het |
Tmprss3 |
T |
A |
17: 31,403,553 (GRCm39) |
D416V |
probably damaging |
Het |
Vmn1r71 |
T |
A |
7: 10,482,601 (GRCm39) |
Y29F |
probably benign |
Het |
Vmn2r84 |
T |
C |
10: 130,223,861 (GRCm39) |
|
probably benign |
Het |
Washc2 |
G |
T |
6: 116,204,435 (GRCm39) |
D362Y |
probably damaging |
Het |
Wbp2nl |
T |
C |
15: 82,198,035 (GRCm39) |
S191P |
probably benign |
Het |
Zfp608 |
T |
C |
18: 55,079,865 (GRCm39) |
T307A |
probably damaging |
Het |
Zfp970 |
T |
C |
2: 177,166,610 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
IGL03134:Stxbp4
|
UTSW |
11 |
90,498,010 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
Posted On |
2015-12-18 |