Incidental Mutation 'R4359:Stxbp4'
| ID |
324822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stxbp4
|
| Ensembl Gene |
ENSMUSG00000020546 |
| Gene Name |
syntaxin binding protein 4 |
| Synonyms |
6030470M02Rik, Synip |
| MMRRC Submission |
041670-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4359 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
90367318-90528910 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 90385470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 506
(W506*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143203]
|
| AlphaFold |
Q9WV89 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000123260
AA Change: W139*
|
| SMART Domains |
Protein: ENSMUSP00000122365
Gene: ENSMUSG00000020546
AA Change: W139*
| 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 null
Transcript: ENSMUST00000143203
AA Change: W506*
|
| SMART Domains |
Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546
AA Change: W506*
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,247,629 (GRCm39) |
V2459F |
probably benign |
Het |
| Acot1 |
T |
C |
12: 84,061,314 (GRCm39) |
Y207H |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,465,476 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,833,589 (GRCm39) |
I2613N |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,731,957 (GRCm39) |
I2027T |
possibly damaging |
Het |
| C2cd3 |
T |
G |
7: 100,090,296 (GRCm39) |
H466Q |
probably damaging |
Het |
| Cdc14b |
T |
A |
13: 64,396,225 (GRCm39) |
I15F |
probably benign |
Het |
| Cep135 |
G |
T |
5: 76,759,561 (GRCm39) |
K438N |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,466,476 (GRCm39) |
D1587G |
probably damaging |
Het |
| Cxcl16 |
C |
A |
11: 70,349,631 (GRCm39) |
V65L |
possibly damaging |
Het |
| Dhx36 |
T |
A |
3: 62,382,699 (GRCm39) |
T783S |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,356,389 (GRCm39) |
N157S |
probably benign |
Het |
| Efcab3 |
G |
T |
11: 104,624,547 (GRCm39) |
|
probably null |
Het |
| Fem1al |
A |
T |
11: 29,774,669 (GRCm39) |
S263T |
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
| Grin3b |
T |
A |
10: 79,808,731 (GRCm39) |
D160E |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Htr1b |
C |
A |
9: 81,514,404 (GRCm39) |
A68S |
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,544 (GRCm39) |
D28V |
possibly damaging |
Het |
| Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,516,480 (GRCm39) |
V462A |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| L3mbtl3 |
A |
G |
10: 26,203,639 (GRCm39) |
V397A |
unknown |
Het |
| Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 40,793,077 (GRCm39) |
C2532W |
probably damaging |
Het |
| Malt1 |
T |
C |
18: 65,609,300 (GRCm39) |
V768A |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,401,020 (GRCm39) |
W233R |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,249,736 (GRCm39) |
K1054R |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,061,712 (GRCm39) |
T2051S |
probably benign |
Het |
| Or10j5 |
C |
A |
1: 172,784,647 (GRCm39) |
A95E |
probably benign |
Het |
| Or51ac3 |
A |
G |
7: 103,213,742 (GRCm39) |
F248S |
probably benign |
Het |
| Pcsk1 |
T |
C |
13: 75,260,838 (GRCm39) |
S354P |
possibly damaging |
Het |
| Pilra |
T |
C |
5: 137,829,576 (GRCm39) |
T160A |
probably benign |
Het |
| Plekha5 |
G |
C |
6: 140,537,414 (GRCm39) |
E540D |
probably benign |
Het |
| Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
| Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
| Srd5a3 |
T |
A |
5: 76,295,547 (GRCm39) |
F79Y |
probably damaging |
Het |
| Timeless |
C |
A |
10: 128,083,211 (GRCm39) |
Q653K |
probably benign |
Het |
| Trio |
G |
A |
15: 27,749,883 (GRCm39) |
Q1129* |
probably null |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,714,334 (GRCm39) |
S275T |
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 |
|
|
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 |
|
|
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'- CTAAGTCACATGCAATGGAGATGG -3'
(R):5'- TGCGTTGTAAAGATGCTGAGTAC -3'
Sequencing Primer
(F):5'- AGATGGCGAGGCTTCATTTC -3'
(R):5'- GATGCTGAGTACCAGAGCTCATC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation