Incidental Mutation 'IGL03198:Stxbp3'
| ID |
412888 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stxbp3
|
| Ensembl Gene |
ENSMUSG00000027882 |
| Gene Name |
syntaxin binding protein 3 |
| Synonyms |
Stxbp3, Stxbp3a, Munc-18c |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03198
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108700496-108747818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108734405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 40
(F40L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102621]
[ENSMUST00000106596]
[ENSMUST00000138552]
|
| AlphaFold |
Q60770 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102621
AA Change: F40L
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: F40L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
33 |
576 |
5.9e-107 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106596
AA Change: F40L
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102206
Gene: ENSMUSG00000027882
AA Change: F40L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
32 |
93 |
3.5e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138552
AA Change: F40L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142860
Gene: ENSMUSG00000027882
AA Change: F40L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
32 |
114 |
2e-17 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000196679
AA Change: F34L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200035
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
T |
1: 9,620,177 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,789,425 (GRCm39) |
|
probably null |
Het |
| Brca1 |
G |
T |
11: 101,403,537 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,368,108 (GRCm39) |
C372S |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,526,936 (GRCm39) |
|
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,186,615 (GRCm39) |
N262D |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,966,499 (GRCm39) |
|
probably null |
Het |
| Foxj2 |
G |
A |
6: 122,809,966 (GRCm39) |
|
probably null |
Het |
| Gm4297 |
T |
A |
X: 24,418,810 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,553,555 (GRCm39) |
D429G |
probably benign |
Het |
| Hcfc1 |
T |
C |
X: 72,994,935 (GRCm39) |
I924V |
possibly damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,956,642 (GRCm39) |
V411A |
probably damaging |
Het |
| Mdh1 |
A |
T |
11: 21,514,168 (GRCm39) |
V83E |
probably damaging |
Het |
| Pa2g4 |
A |
G |
10: 128,401,647 (GRCm39) |
V17A |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Polg |
A |
G |
7: 79,101,470 (GRCm39) |
V1079A |
probably damaging |
Het |
| Polr2a |
G |
T |
11: 69,638,107 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
C |
T |
15: 73,108,065 (GRCm39) |
S722N |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,025,508 (GRCm39) |
D1243G |
probably benign |
Het |
| Sirt4 |
T |
C |
5: 115,621,061 (GRCm39) |
D37G |
probably benign |
Het |
| Slc35d1 |
T |
C |
4: 103,042,085 (GRCm39) |
Y249C |
probably damaging |
Het |
| Snrnp27 |
A |
T |
6: 86,659,968 (GRCm39) |
|
probably null |
Het |
| Srek1 |
T |
C |
13: 103,881,443 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
T |
6: 48,454,516 (GRCm39) |
I2951F |
probably benign |
Het |
| Sympk |
T |
C |
7: 18,778,921 (GRCm39) |
V604A |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,104,510 (GRCm39) |
Y544C |
probably damaging |
Het |
| Tnpo2 |
C |
T |
8: 85,778,347 (GRCm39) |
T592I |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,388,941 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 38,045,964 (GRCm39) |
L120Q |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,847,844 (GRCm39) |
M836K |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,741,479 (GRCm39) |
N141S |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,980,528 (GRCm39) |
Y28* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,508,304 (GRCm39) |
D659G |
possibly damaging |
Het |
|
| Other mutations in Stxbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00805:Stxbp3
|
APN |
3 |
108,723,667 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01370:Stxbp3
|
APN |
3 |
108,704,741 (GRCm39) |
nonsense |
probably null |
|
|
IGL01810:Stxbp3
|
APN |
3 |
108,707,468 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02583:Stxbp3
|
APN |
3 |
108,708,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02827:Stxbp3
|
APN |
3 |
108,717,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03022:Stxbp3
|
APN |
3 |
108,708,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03410:Stxbp3
|
APN |
3 |
108,709,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1patch:Stxbp3
|
UTSW |
3 |
108,734,916 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0666:Stxbp3
|
UTSW |
3 |
108,712,618 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3887:Stxbp3
|
UTSW |
3 |
108,712,549 (GRCm39) |
splice site |
probably null |
|
|
R4128:Stxbp3
|
UTSW |
3 |
108,702,147 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4683:Stxbp3
|
UTSW |
3 |
108,708,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Stxbp3
|
UTSW |
3 |
108,702,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5307:Stxbp3
|
UTSW |
3 |
108,701,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6643:Stxbp3
|
UTSW |
3 |
108,701,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Stxbp3
|
UTSW |
3 |
108,723,762 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6725:Stxbp3
|
UTSW |
3 |
108,734,916 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7110:Stxbp3
|
UTSW |
3 |
108,723,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7135:Stxbp3
|
UTSW |
3 |
108,708,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Stxbp3
|
UTSW |
3 |
108,708,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7769:Stxbp3
|
UTSW |
3 |
108,708,144 (GRCm39) |
missense |
probably benign |
|
|
R8688:Stxbp3
|
UTSW |
3 |
108,709,425 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9048:Stxbp3
|
UTSW |
3 |
108,723,704 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9503:Stxbp3
|
UTSW |
3 |
108,710,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9523:Stxbp3
|
UTSW |
3 |
108,747,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Stxbp3
|
UTSW |
3 |
108,701,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation