Incidental Mutation 'V8831:Stxbp4'
| ID |
44624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stxbp4
|
| Ensembl Gene |
ENSMUSG00000020546 |
| Gene Name |
syntaxin binding protein 4 |
| Synonyms |
Synip, 6030470M02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
V8831 ()
of strain
710
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
90476492-90638084 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90480671 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 535
(A535T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143203]
|
| AlphaFold |
Q9WV89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143203
AA Change: A535T
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546
AA Change: A535T
| 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: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsa1 |
A |
G |
12: 87,269,923 (GRCm38) |
N107S |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,456,545 (GRCm38) |
I690V |
probably benign |
Het |
| Bard1 |
G |
A |
1: 71,088,217 (GRCm38) |
P78S |
probably damaging |
Het |
| Ccar1 |
G |
A |
10: 62,747,406 (GRCm38) |
T976I |
unknown |
Het |
| Cdc7 |
T |
A |
5: 106,968,910 (GRCm38) |
N50K |
probably benign |
Het |
| Cep85 |
C |
T |
4: 134,156,069 (GRCm38) |
E170K |
possibly damaging |
Het |
| Cpsf2 |
C |
T |
12: 102,003,141 (GRCm38) |
R757C |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 48,457,696 (GRCm38) |
D239E |
probably damaging |
Het |
| Dnah7b |
T |
G |
1: 46,373,298 (GRCm38) |
Y4022* |
probably null |
Het |
| Elmo3 |
A |
G |
8: 105,307,061 (GRCm38) |
N179S |
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,017,324 (GRCm38) |
Q89L |
probably damaging |
Het |
| Hist1h2bj |
G |
C |
13: 22,043,281 (GRCm38) |
|
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,561,484 (GRCm38) |
I327T |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,385,882 (GRCm38) |
L157Q |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 67,752,883 (GRCm38) |
D656N |
probably benign |
Het |
| Lrrc72 |
G |
T |
12: 36,208,657 (GRCm38) |
T67K |
possibly damaging |
Het |
| Map2 |
T |
G |
1: 66,415,845 (GRCm38) |
I1298S |
probably damaging |
Het |
| Mroh2a |
T |
TN |
1: 88,256,167 (GRCm38) |
|
probably null |
Het |
| Ndst1 |
G |
A |
18: 60,702,927 (GRCm38) |
A428V |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
| Olfr1369-ps1 |
T |
C |
13: 21,116,003 (GRCm38) |
Y104H |
possibly damaging |
Het |
| Olfr177 |
G |
T |
16: 58,873,075 (GRCm38) |
T25K |
probably benign |
Het |
| Olfr481 |
C |
T |
7: 108,081,535 (GRCm38) |
A247V |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,357,137 (GRCm38) |
V170A |
probably damaging |
Het |
| Rfx6 |
G |
A |
10: 51,718,208 (GRCm38) |
|
probably null |
Het |
| Shprh |
G |
A |
10: 11,186,862 (GRCm38) |
D1238N |
probably damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,772,445 (GRCm38) |
M179T |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,577,899 (GRCm38) |
I676F |
possibly damaging |
Het |
| Smoc1 |
A |
G |
12: 81,168,255 (GRCm38) |
D305G |
probably damaging |
Het |
| Spdef |
C |
T |
17: 27,718,077 (GRCm38) |
R184H |
probably damaging |
Het |
| Tcp11l1 |
C |
G |
2: 104,685,484 (GRCm38) |
V345L |
probably benign |
Het |
| Ticam1 |
TC |
T |
17: 56,269,969 (GRCm38) |
708 |
probably null |
Het |
| Ttc28 |
A |
T |
5: 111,100,712 (GRCm38) |
Y177F |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 86,906,674 (GRCm38) |
Y83N |
probably benign |
Het |
| Vmn2r30 |
G |
A |
7: 7,334,149 (GRCm38) |
R163C |
probably benign |
Het |
| Xirp1 |
T |
G |
9: 120,016,907 (GRCm38) |
Q970P |
probably benign |
Het |
|
| Other mutations in Stxbp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00988:Stxbp4
|
APN |
11 |
90,535,512 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01312:Stxbp4
|
APN |
11 |
90,621,649 (GRCm38) |
splice site |
probably benign |
|
|
IGL01313:Stxbp4
|
APN |
11 |
90,621,649 (GRCm38) |
splice site |
probably benign |
|
|
IGL01314:Stxbp4
|
APN |
11 |
90,621,649 (GRCm38) |
splice site |
probably benign |
|
|
IGL01316:Stxbp4
|
APN |
11 |
90,621,649 (GRCm38) |
splice site |
probably benign |
|
|
IGL01377:Stxbp4
|
APN |
11 |
90,621,649 (GRCm38) |
splice site |
probably benign |
|
|
IGL01380:Stxbp4
|
APN |
11 |
90,621,649 (GRCm38) |
splice site |
probably benign |
|
|
IGL01385:Stxbp4
|
APN |
11 |
90,540,248 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01408:Stxbp4
|
APN |
11 |
90,621,649 (GRCm38) |
splice site |
probably benign |
|
|
IGL02573:Stxbp4
|
APN |
11 |
90,540,269 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02707:Stxbp4
|
APN |
11 |
90,537,933 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02809:Stxbp4
|
APN |
11 |
90,600,184 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02900:Stxbp4
|
APN |
11 |
90,607,035 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03177:Stxbp4
|
APN |
11 |
90,571,753 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03397:Stxbp4
|
APN |
11 |
90,540,234 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02799:Stxbp4
|
UTSW |
11 |
90,494,600 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03134:Stxbp4
|
UTSW |
11 |
90,607,184 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0005:Stxbp4
|
UTSW |
11 |
90,548,917 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0487:Stxbp4
|
UTSW |
11 |
90,592,360 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0930:Stxbp4
|
UTSW |
11 |
90,621,700 (GRCm38) |
start codon destroyed |
probably null |
0.99 |
|
R1633:Stxbp4
|
UTSW |
11 |
90,540,160 (GRCm38) |
splice site |
probably benign |
|
|
R3785:Stxbp4
|
UTSW |
11 |
90,535,615 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4359:Stxbp4
|
UTSW |
11 |
90,494,644 (GRCm38) |
nonsense |
probably null |
|
|
R4591:Stxbp4
|
UTSW |
11 |
90,594,780 (GRCm38) |
missense |
probably benign |
0.33 |
|
R4756:Stxbp4
|
UTSW |
11 |
90,607,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5095:Stxbp4
|
UTSW |
11 |
90,548,975 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5870:Stxbp4
|
UTSW |
11 |
90,537,956 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6268:Stxbp4
|
UTSW |
11 |
90,540,201 (GRCm38) |
nonsense |
probably null |
|
|
R6460:Stxbp4
|
UTSW |
11 |
90,606,985 (GRCm38) |
missense |
probably benign |
0.35 |
|
R6479:Stxbp4
|
UTSW |
11 |
90,619,187 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7139:Stxbp4
|
UTSW |
11 |
90,607,009 (GRCm38) |
nonsense |
probably null |
|
|
R7349:Stxbp4
|
UTSW |
11 |
90,592,111 (GRCm38) |
splice site |
probably null |
|
|
R7481:Stxbp4
|
UTSW |
11 |
90,594,813 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7812:Stxbp4
|
UTSW |
11 |
90,594,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8903:Stxbp4
|
UTSW |
11 |
90,535,441 (GRCm38) |
missense |
unknown |
|
|
R9023:Stxbp4
|
UTSW |
11 |
90,535,423 (GRCm38) |
missense |
unknown |
|
|
R9100:Stxbp4
|
UTSW |
11 |
90,535,494 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
Z1176:Stxbp4
|
UTSW |
11 |
90,480,671 (GRCm38) |
missense |
probably benign |
0.34 |
|
Z1177:Stxbp4
|
UTSW |
11 |
90,600,146 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1177:Stxbp4
|
UTSW |
11 |
90,592,331 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1177:Stxbp4
|
UTSW |
11 |
90,480,671 (GRCm38) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTTGCGACTTGACACCCTG -3'
(R):5'- TGTTGCACACAGCTACACAGCC -3'
Sequencing Primer
(F):5'- ACTTGACACCCTGCCTGG -3'
(R):5'- TCACAGACAGTGTCCTTCAGATG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation