Incidental Mutation 'IGL02573:Stxbp4'
ID |
299085 |
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 # |
IGL02573
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
90367318-90528910 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90431095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 405
(D405G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116191
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020858]
[ENSMUST00000143203]
|
AlphaFold |
Q9WV89 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020858
AA Change: D405G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020858 Gene: ENSMUSG00000020546 AA Change: D405G
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 |
noncoding transcript
Transcript: ENSMUST00000119669
|
Predicted Effect |
unknown
Transcript: ENSMUST00000123260
AA Change: D38G
|
SMART Domains |
Protein: ENSMUSP00000122365 Gene: ENSMUSG00000020546 AA Change: D38G
Domain | Start | End | E-Value | Type |
coiled coil region
|
3 |
42 |
N/A |
INTRINSIC |
SCOP:d1i5hw_
|
132 |
153 |
6e-7 |
SMART |
Blast:WW
|
135 |
153 |
3e-7 |
BLAST |
PDB:2YSG|A
|
136 |
153 |
4e-7 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143203
AA Change: D405G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116191 Gene: ENSMUSG00000020546 AA Change: D405G
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angptl3 |
T |
A |
4: 98,926,171 (GRCm39) |
W434R |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,512,486 (GRCm39) |
Q344R |
probably benign |
Het |
B4galt5 |
C |
T |
2: 167,146,982 (GRCm39) |
R284Q |
probably benign |
Het |
Ccdc80 |
T |
G |
16: 44,915,952 (GRCm39) |
V236G |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,457,191 (GRCm39) |
I926V |
possibly damaging |
Het |
Dgkz |
A |
C |
2: 91,764,542 (GRCm39) |
S1030R |
probably damaging |
Het |
Disp3 |
T |
A |
4: 148,355,906 (GRCm39) |
D318V |
probably damaging |
Het |
Dnaaf10 |
T |
C |
11: 17,162,136 (GRCm39) |
L58P |
possibly damaging |
Het |
Ehd1 |
T |
C |
19: 6,344,330 (GRCm39) |
S197P |
probably damaging |
Het |
Emp1 |
A |
G |
6: 135,356,945 (GRCm39) |
K42R |
probably benign |
Het |
Garin4 |
G |
A |
1: 190,896,067 (GRCm39) |
T192I |
probably damaging |
Het |
Gm4922 |
T |
A |
10: 18,659,423 (GRCm39) |
D433V |
probably benign |
Het |
Gsdma |
T |
C |
11: 98,561,577 (GRCm39) |
|
probably benign |
Het |
Hspbp1 |
G |
T |
7: 4,680,852 (GRCm39) |
A208E |
probably damaging |
Het |
Il5ra |
A |
T |
6: 106,693,712 (GRCm39) |
V342E |
possibly damaging |
Het |
Kif13b |
T |
C |
14: 65,040,880 (GRCm39) |
F1660S |
probably damaging |
Het |
Lvrn |
A |
G |
18: 47,010,016 (GRCm39) |
E388G |
probably damaging |
Het |
Mettl17 |
G |
A |
14: 52,125,504 (GRCm39) |
|
probably null |
Het |
Mgat5b |
T |
C |
11: 116,868,540 (GRCm39) |
Y488H |
probably benign |
Het |
Mtr |
A |
T |
13: 12,214,013 (GRCm39) |
D886E |
possibly damaging |
Het |
Naip6 |
A |
T |
13: 100,435,979 (GRCm39) |
L848* |
probably null |
Het |
Nav3 |
A |
G |
10: 109,702,835 (GRCm39) |
S233P |
probably benign |
Het |
Nme9 |
A |
T |
9: 99,352,908 (GRCm39) |
D286V |
probably benign |
Het |
Nod1 |
C |
A |
6: 54,920,930 (GRCm39) |
A463S |
probably benign |
Het |
Nthl1 |
A |
G |
17: 24,852,949 (GRCm39) |
K51R |
probably benign |
Het |
Or1n2 |
A |
G |
2: 36,797,566 (GRCm39) |
I203V |
probably damaging |
Het |
Or6k14 |
T |
A |
1: 173,927,696 (GRCm39) |
V224D |
possibly damaging |
Het |
Pcnx2 |
G |
A |
8: 126,582,012 (GRCm39) |
A908V |
probably benign |
Het |
Pdcd6 |
A |
G |
13: 74,452,098 (GRCm39) |
Y181H |
probably damaging |
Het |
Pde10a |
A |
C |
17: 9,180,722 (GRCm39) |
I719L |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,270,014 (GRCm39) |
|
probably null |
Het |
Plekha5 |
G |
T |
6: 140,527,742 (GRCm39) |
A396S |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,664,789 (GRCm39) |
T342A |
probably damaging |
Het |
Rbck1 |
A |
G |
2: 152,164,087 (GRCm39) |
I339T |
possibly damaging |
Het |
Rbms2 |
A |
T |
10: 127,979,309 (GRCm39) |
I140N |
probably damaging |
Het |
Scn1b |
A |
T |
7: 30,822,546 (GRCm39) |
L78Q |
possibly damaging |
Het |
Slc12a6 |
T |
C |
2: 112,188,986 (GRCm39) |
|
probably null |
Het |
Slc25a30 |
A |
T |
14: 76,007,108 (GRCm39) |
|
probably benign |
Het |
Slc30a7 |
C |
T |
3: 115,783,796 (GRCm39) |
|
probably benign |
Het |
Slc5a10 |
C |
A |
11: 61,563,898 (GRCm39) |
R546L |
possibly damaging |
Het |
Tm4sf19 |
A |
C |
16: 32,226,678 (GRCm39) |
T156P |
possibly damaging |
Het |
Tmem37 |
A |
T |
1: 119,995,719 (GRCm39) |
D119E |
probably damaging |
Het |
Tor1aip1 |
T |
A |
1: 155,889,117 (GRCm39) |
N113I |
probably damaging |
Het |
Ubac2 |
T |
A |
14: 122,144,802 (GRCm39) |
Y87N |
possibly damaging |
Het |
Usp29 |
A |
T |
7: 6,965,617 (GRCm39) |
|
probably null |
Het |
Zfp276 |
A |
G |
8: 123,991,736 (GRCm39) |
E428G |
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 |
|
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 |
|
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 |
2015-04-16 |