Incidental Mutation 'R6533:Stxbp2'
| ID |
520191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stxbp2
|
| Ensembl Gene |
ENSMUSG00000004626 |
| Gene Name |
syntaxin binding protein 2 |
| Synonyms |
muSec1, C79054, Sxtp2, Munc18b, Munc-18b, Munc-18-2 |
| MMRRC Submission |
044659-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3680955-3693644 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3692683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 578
(D578E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160708]
|
| AlphaFold |
Q64324 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000004745
AA Change: D578E
|
| SMART Domains |
Protein: ENSMUSP00000004745
Gene: ENSMUSG00000004626
AA Change: D578E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
29 |
580 |
6.8e-113 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159370
AA Change: D109E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159652
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160435
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160708
AA Change: D578E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000125405
Gene: ENSMUSG00000004626
AA Change: D578E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
29 |
579 |
4.9e-112 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162047
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162832
|
| Meta Mutation Damage Score |
0.0949 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete preweaning lethality. Mice heterozygous for this allele exhibit decreased stimulated mucin secretion, release of histones in stimulated mast cells and decreased susceptibility to type I hypersensitivity reaction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010B08Rik |
C |
T |
2: 173,561,628 (GRCm39) |
|
probably benign |
Het |
| 4932414N04Rik |
G |
T |
2: 68,546,662 (GRCm39) |
E115* |
probably null |
Het |
| Abhd16a |
G |
A |
17: 35,317,785 (GRCm39) |
|
probably null |
Het |
| Ankrd28 |
T |
A |
14: 31,454,041 (GRCm39) |
I244L |
possibly damaging |
Het |
| Barx2 |
T |
C |
9: 31,824,275 (GRCm39) |
Y38C |
probably damaging |
Het |
| Btn2a2 |
C |
A |
13: 23,665,951 (GRCm39) |
E294* |
probably null |
Het |
| Ceacam2 |
C |
G |
7: 25,230,136 (GRCm39) |
V157L |
probably benign |
Het |
| Ces2c |
T |
A |
8: 105,578,725 (GRCm39) |
F334L |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,790,426 (GRCm39) |
I958T |
unknown |
Het |
| Dcp2 |
T |
A |
18: 44,532,731 (GRCm39) |
D82E |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,965,964 (GRCm39) |
L2432S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,342,590 (GRCm39) |
D7582G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,910,195 (GRCm39) |
I1936L |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,763,909 (GRCm39) |
N396I |
probably damaging |
Het |
| Lonrf2 |
A |
C |
1: 38,852,349 (GRCm39) |
D167E |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,933,663 (GRCm39) |
D1575G |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,769,518 (GRCm39) |
L101P |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,981,245 (GRCm39) |
I703V |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,549,007 (GRCm39) |
A1257V |
probably benign |
Het |
| Nipal4 |
A |
T |
11: 46,041,234 (GRCm39) |
Y320* |
probably null |
Het |
| Obox5 |
A |
T |
7: 15,491,532 (GRCm39) |
Q24L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,454,644 (GRCm39) |
S345P |
probably benign |
Het |
| P4hb |
A |
T |
11: 120,462,469 (GRCm39) |
I79N |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,845,399 (GRCm39) |
I1262N |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,022,697 (GRCm39) |
N291K |
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,440,845 (GRCm39) |
R691H |
possibly damaging |
Het |
| Ppm1m |
T |
C |
9: 106,074,069 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,046,765 (GRCm39) |
D500E |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,965,151 (GRCm39) |
|
probably null |
Het |
| Rnf214 |
A |
G |
9: 45,811,361 (GRCm39) |
S101P |
probably benign |
Het |
| Sdhc |
A |
G |
1: 170,957,396 (GRCm39) |
S162P |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,071,713 (GRCm39) |
T2231I |
probably damaging |
Het |
| Tacc2 |
A |
T |
7: 130,224,567 (GRCm39) |
E417D |
possibly damaging |
Het |
| Tas2r144 |
A |
T |
6: 42,192,280 (GRCm39) |
N7Y |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,676,277 (GRCm39) |
*421R |
probably null |
Het |
| Tigd5 |
A |
G |
15: 75,782,039 (GRCm39) |
I134V |
possibly damaging |
Het |
| Tmem95 |
A |
T |
11: 69,768,843 (GRCm39) |
M1K |
probably null |
Het |
| Trappc10 |
T |
C |
10: 78,024,728 (GRCm39) |
M1134V |
probably damaging |
Het |
| Unc45a |
T |
G |
7: 79,983,817 (GRCm39) |
K326N |
probably damaging |
Het |
| Vmn1r59 |
A |
G |
7: 5,457,463 (GRCm39) |
V99A |
probably benign |
Het |
| Vmn2r4 |
T |
C |
3: 64,322,519 (GRCm39) |
T67A |
probably benign |
Het |
| Vmn2r85 |
A |
T |
10: 130,262,529 (GRCm39) |
M70K |
probably benign |
Het |
| Zftraf1 |
C |
A |
15: 76,531,930 (GRCm39) |
E283* |
probably null |
Het |
| Zkscan8 |
A |
G |
13: 21,704,748 (GRCm39) |
F325S |
probably damaging |
Het |
|
| Other mutations in Stxbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Stxbp2
|
APN |
8 |
3,686,354 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00466:Stxbp2
|
APN |
8 |
3,684,065 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02315:Stxbp2
|
APN |
8 |
3,685,607 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02508:Stxbp2
|
APN |
8 |
3,682,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02811:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02833:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02868:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02869:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02896:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02926:Stxbp2
|
APN |
8 |
3,685,629 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02927:Stxbp2
|
APN |
8 |
3,692,685 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02928:Stxbp2
|
APN |
8 |
3,691,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02943:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02945:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02948:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02951:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02972:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02976:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02977:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02983:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02993:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03008:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03009:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03038:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03051:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03061:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03072:Stxbp2
|
APN |
8 |
3,691,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03110:Stxbp2
|
APN |
8 |
3,683,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Stxbp2
|
UTSW |
8 |
3,683,267 (GRCm39) |
intron |
probably benign |
|
|
R0463:Stxbp2
|
UTSW |
8 |
3,682,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Stxbp2
|
UTSW |
8 |
3,682,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0755:Stxbp2
|
UTSW |
8 |
3,692,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1328:Stxbp2
|
UTSW |
8 |
3,692,657 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1771:Stxbp2
|
UTSW |
8 |
3,684,064 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1962:Stxbp2
|
UTSW |
8 |
3,692,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2195:Stxbp2
|
UTSW |
8 |
3,684,615 (GRCm39) |
splice site |
probably null |
|
|
R2319:Stxbp2
|
UTSW |
8 |
3,683,834 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3614:Stxbp2
|
UTSW |
8 |
3,681,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3870:Stxbp2
|
UTSW |
8 |
3,684,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:Stxbp2
|
UTSW |
8 |
3,683,369 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4703:Stxbp2
|
UTSW |
8 |
3,682,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6623:Stxbp2
|
UTSW |
8 |
3,682,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6665:Stxbp2
|
UTSW |
8 |
3,691,998 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6798:Stxbp2
|
UTSW |
8 |
3,691,180 (GRCm39) |
missense |
probably benign |
|
|
R7152:Stxbp2
|
UTSW |
8 |
3,682,583 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7326:Stxbp2
|
UTSW |
8 |
3,691,151 (GRCm39) |
missense |
|
|
|
R8237:Stxbp2
|
UTSW |
8 |
3,685,695 (GRCm39) |
missense |
|
|
|
R8268:Stxbp2
|
UTSW |
8 |
3,682,234 (GRCm39) |
missense |
|
|
|
R8709:Stxbp2
|
UTSW |
8 |
3,683,914 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8811:Stxbp2
|
UTSW |
8 |
3,689,541 (GRCm39) |
missense |
|
|
|
R9018:Stxbp2
|
UTSW |
8 |
3,692,627 (GRCm39) |
intron |
probably benign |
|
|
R9043:Stxbp2
|
UTSW |
8 |
3,684,478 (GRCm39) |
missense |
|
|
|
R9048:Stxbp2
|
UTSW |
8 |
3,687,218 (GRCm39) |
missense |
|
|
|
R9212:Stxbp2
|
UTSW |
8 |
3,686,220 (GRCm39) |
missense |
|
|
|
R9421:Stxbp2
|
UTSW |
8 |
3,682,264 (GRCm39) |
missense |
|
|
|
R9643:Stxbp2
|
UTSW |
8 |
3,686,392 (GRCm39) |
missense |
|
|
|
Z1177:Stxbp2
|
UTSW |
8 |
3,691,123 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTTCTGAACCCCTCAATCATTG -3'
(R):5'- CCCAGGTTCTCAGCGTTAATG -3'
Sequencing Primer
(F):5'- TCAATCATTGAGAAGACAGGGCCC -3'
(R):5'- CCAGGTTCTCAGCGTTAATGAAAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation