Incidental Mutation 'R5105:Stxbp5l'
| ID |
402006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stxbp5l
|
| Ensembl Gene |
ENSMUSG00000022829 |
| Gene Name |
syntaxin binding protein 5-like |
| Synonyms |
insulin level locus 1, T2dm1, LLGL4, tomosyn-2, t2md1, A830015P08Rik |
| MMRRC Submission |
042693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
36935304-37205324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36962734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 774
(V774F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023526]
[ENSMUST00000114780]
[ENSMUST00000114781]
[ENSMUST00000114782]
[ENSMUST00000114787]
|
| AlphaFold |
Q5DQR4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000023526
|
| SMART Domains |
Protein: ENSMUSP00000023526
Gene: ENSMUSG00000022829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
40 |
N/A |
INTRINSIC |
|
WD40
|
58 |
97 |
1.1e2 |
SMART |
|
WD40
|
99 |
138 |
6.66e-1 |
SMART |
|
Blast:WD40
|
143 |
182 |
2e-20 |
BLAST |
|
WD40
|
197 |
236 |
2.22e0 |
SMART |
|
WD40
|
240 |
277 |
1.7e-2 |
SMART |
|
Pfam:LLGL
|
284 |
396 |
7.6e-45 |
PFAM |
|
WD40
|
397 |
476 |
7.7e-1 |
SMART |
|
WD40
|
501 |
541 |
6.14e1 |
SMART |
|
low complexity region
|
577 |
592 |
N/A |
INTRINSIC |
|
low complexity region
|
790 |
804 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114780
|
| SMART Domains |
Protein: ENSMUSP00000110428
Gene: ENSMUSG00000022829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
40 |
N/A |
INTRINSIC |
|
WD40
|
58 |
97 |
1.1e2 |
SMART |
|
WD40
|
99 |
138 |
6.66e-1 |
SMART |
|
Blast:WD40
|
143 |
182 |
1e-20 |
BLAST |
|
WD40
|
197 |
236 |
2.22e0 |
SMART |
|
WD40
|
240 |
277 |
1.7e-2 |
SMART |
|
Pfam:LLGL
|
284 |
396 |
8.6e-45 |
PFAM |
|
WD40
|
397 |
476 |
7.7e-1 |
SMART |
|
WD40
|
501 |
541 |
6.14e1 |
SMART |
|
low complexity region
|
577 |
592 |
N/A |
INTRINSIC |
|
Pfam:Lgl_C
|
731 |
988 |
3e-9 |
PFAM |
|
PDB:1URQ|A
|
1038 |
1097 |
2e-25 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114781
|
| SMART Domains |
Protein: ENSMUSP00000110429
Gene: ENSMUSG00000022829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
40 |
N/A |
INTRINSIC |
|
WD40
|
58 |
97 |
1.1e2 |
SMART |
|
WD40
|
99 |
138 |
6.66e-1 |
SMART |
|
Blast:WD40
|
143 |
182 |
1e-20 |
BLAST |
|
WD40
|
197 |
236 |
2.22e0 |
SMART |
|
WD40
|
240 |
277 |
1.7e-2 |
SMART |
|
Pfam:LLGL
|
284 |
396 |
8.9e-45 |
PFAM |
|
WD40
|
397 |
476 |
7.7e-1 |
SMART |
|
WD40
|
501 |
541 |
6.14e1 |
SMART |
|
low complexity region
|
577 |
592 |
N/A |
INTRINSIC |
|
Pfam:Lgl_C
|
755 |
1012 |
3.1e-9 |
PFAM |
|
PDB:1URQ|A
|
1062 |
1121 |
2e-25 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114782
AA Change: V750F
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110430
Gene: ENSMUSG00000022829
AA Change: V750F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
40 |
N/A |
INTRINSIC |
|
WD40
|
58 |
97 |
1.1e2 |
SMART |
|
WD40
|
99 |
138 |
6.66e-1 |
SMART |
|
Blast:WD40
|
143 |
182 |
1e-20 |
BLAST |
|
WD40
|
197 |
236 |
2.22e0 |
SMART |
|
WD40
|
240 |
277 |
1.7e-2 |
SMART |
|
Pfam:LLGL
|
284 |
396 |
9.2e-45 |
PFAM |
|
WD40
|
397 |
476 |
7.7e-1 |
SMART |
|
WD40
|
501 |
541 |
6.14e1 |
SMART |
|
low complexity region
|
577 |
592 |
N/A |
INTRINSIC |
|
Pfam:Lgl_C
|
785 |
1045 |
3.1e-9 |
PFAM |
|
PDB:1URQ|A
|
1095 |
1154 |
2e-25 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114787
AA Change: V774F
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110435
Gene: ENSMUSG00000022829
AA Change: V774F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
40 |
N/A |
INTRINSIC |
|
WD40
|
58 |
97 |
1.1e2 |
SMART |
|
WD40
|
99 |
138 |
6.66e-1 |
SMART |
|
Blast:WD40
|
143 |
182 |
1e-20 |
BLAST |
|
WD40
|
197 |
236 |
2.22e0 |
SMART |
|
WD40
|
240 |
277 |
1.7e-2 |
SMART |
|
Pfam:LLGL
|
287 |
396 |
8.7e-35 |
PFAM |
|
WD40
|
397 |
476 |
7.7e-1 |
SMART |
|
WD40
|
501 |
541 |
6.14e1 |
SMART |
|
low complexity region
|
577 |
592 |
N/A |
INTRINSIC |
|
Pfam:Lgl_C
|
811 |
1069 |
3.3e-9 |
PFAM |
|
PDB:1URQ|A
|
1119 |
1178 |
2e-25 |
PDB |
|
| Meta Mutation Damage Score |
0.0700 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
96% (52/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a QTL derived from BTBR exhibit increased fasting serum glucose and decreased fasting serum insulin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btbd8 |
T |
G |
5: 107,658,337 (GRCm39) |
S1124A |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,830,941 (GRCm39) |
S445P |
probably damaging |
Het |
| Ccdc92 |
G |
A |
5: 124,912,858 (GRCm39) |
P224S |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,741,939 (GRCm39) |
V125A |
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,999,612 (GRCm39) |
C2159S |
probably benign |
Het |
| Col1a1 |
G |
T |
11: 94,833,211 (GRCm39) |
R404L |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,725,862 (GRCm39) |
M1382K |
possibly damaging |
Het |
| Cyp4a12b |
T |
C |
4: 115,290,958 (GRCm39) |
S329P |
probably damaging |
Het |
| Dclk1 |
T |
G |
3: 55,163,360 (GRCm39) |
S151A |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,894,864 (GRCm39) |
V202E |
probably benign |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,888,546 (GRCm39) |
E3050G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,584,366 (GRCm39) |
F590I |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 101,992,631 (GRCm39) |
Y63H |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,520,110 (GRCm39) |
E452G |
possibly damaging |
Het |
| Gpx3 |
A |
T |
11: 54,797,980 (GRCm39) |
T39S |
possibly damaging |
Het |
| Grin2b |
T |
A |
6: 135,709,439 (GRCm39) |
Y1369F |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,667,396 (GRCm39) |
N350K |
probably benign |
Het |
| Kdm5d |
A |
G |
Y: 941,752 (GRCm39) |
K1318E |
probably benign |
Het |
| Large1 |
A |
T |
8: 73,578,872 (GRCm39) |
Y444* |
probably null |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
| Lrrc47 |
A |
G |
4: 154,096,673 (GRCm39) |
Q156R |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,704,632 (GRCm39) |
L220P |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,355,814 (GRCm39) |
D273G |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,988,644 (GRCm39) |
I981F |
probably damaging |
Het |
| Or1q1 |
G |
A |
2: 36,887,469 (GRCm39) |
|
probably null |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or5aq1 |
A |
G |
2: 86,966,554 (GRCm39) |
I37T |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,462 (GRCm39) |
Y74H |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,853,694 (GRCm39) |
V46A |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,700,585 (GRCm39) |
T1784A |
probably damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,559,490 (GRCm39) |
V422A |
possibly damaging |
Het |
| Rlf |
G |
A |
4: 121,007,564 (GRCm39) |
T472I |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,318,313 (GRCm39) |
E417G |
probably damaging |
Het |
| Shisa2 |
A |
T |
14: 59,867,263 (GRCm39) |
T172S |
possibly damaging |
Het |
| Siglec1 |
T |
A |
2: 130,922,320 (GRCm39) |
Q585L |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,213,579 (GRCm39) |
M716K |
possibly damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,568,259 (GRCm39) |
F699S |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,673,509 (GRCm39) |
V251A |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,649,471 (GRCm39) |
N560K |
probably benign |
Het |
| Trpv4 |
T |
A |
5: 114,764,981 (GRCm39) |
I678F |
probably damaging |
Het |
| Ttc3 |
A |
T |
16: 94,267,793 (GRCm39) |
H1935L |
possibly damaging |
Het |
| Vmn2r59 |
T |
A |
7: 41,696,529 (GRCm39) |
Y71F |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,003,415 (GRCm39) |
I2900T |
probably damaging |
Het |
| Zfp184 |
A |
G |
13: 22,143,799 (GRCm39) |
T502A |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,551 (GRCm39) |
I1019V |
probably benign |
Het |
|
| Other mutations in Stxbp5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:Stxbp5l
|
APN |
16 |
37,028,462 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01082:Stxbp5l
|
APN |
16 |
37,024,940 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01448:Stxbp5l
|
APN |
16 |
37,036,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01475:Stxbp5l
|
APN |
16 |
37,165,454 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01899:Stxbp5l
|
APN |
16 |
37,020,954 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02232:Stxbp5l
|
APN |
16 |
37,150,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02389:Stxbp5l
|
APN |
16 |
37,028,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02745:Stxbp5l
|
APN |
16 |
37,007,016 (GRCm39) |
nonsense |
probably null |
|
|
IGL03125:Stxbp5l
|
APN |
16 |
37,007,083 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0058:Stxbp5l
|
UTSW |
16 |
36,962,736 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0345:Stxbp5l
|
UTSW |
16 |
37,108,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Stxbp5l
|
UTSW |
16 |
37,036,440 (GRCm39) |
splice site |
probably benign |
|
|
R0454:Stxbp5l
|
UTSW |
16 |
36,954,646 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0525:Stxbp5l
|
UTSW |
16 |
36,950,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0543:Stxbp5l
|
UTSW |
16 |
37,028,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Stxbp5l
|
UTSW |
16 |
37,024,883 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0607:Stxbp5l
|
UTSW |
16 |
36,962,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1333:Stxbp5l
|
UTSW |
16 |
37,068,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1593:Stxbp5l
|
UTSW |
16 |
36,936,414 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1605:Stxbp5l
|
UTSW |
16 |
37,028,473 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1670:Stxbp5l
|
UTSW |
16 |
37,111,289 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2077:Stxbp5l
|
UTSW |
16 |
37,056,637 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2209:Stxbp5l
|
UTSW |
16 |
37,036,398 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2504:Stxbp5l
|
UTSW |
16 |
36,936,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2909:Stxbp5l
|
UTSW |
16 |
37,028,548 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2917:Stxbp5l
|
UTSW |
16 |
37,021,004 (GRCm39) |
nonsense |
probably null |
|
|
R2918:Stxbp5l
|
UTSW |
16 |
37,021,004 (GRCm39) |
nonsense |
probably null |
|
|
R2935:Stxbp5l
|
UTSW |
16 |
36,954,551 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3693:Stxbp5l
|
UTSW |
16 |
37,061,708 (GRCm39) |
nonsense |
probably null |
|
|
R3694:Stxbp5l
|
UTSW |
16 |
37,061,708 (GRCm39) |
nonsense |
probably null |
|
|
R3695:Stxbp5l
|
UTSW |
16 |
37,061,708 (GRCm39) |
nonsense |
probably null |
|
|
R4133:Stxbp5l
|
UTSW |
16 |
37,028,481 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4180:Stxbp5l
|
UTSW |
16 |
37,068,242 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4676:Stxbp5l
|
UTSW |
16 |
37,076,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Stxbp5l
|
UTSW |
16 |
37,008,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Stxbp5l
|
UTSW |
16 |
36,954,592 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5278:Stxbp5l
|
UTSW |
16 |
37,007,016 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5358:Stxbp5l
|
UTSW |
16 |
36,994,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5411:Stxbp5l
|
UTSW |
16 |
36,950,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5773:Stxbp5l
|
UTSW |
16 |
37,028,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6539:Stxbp5l
|
UTSW |
16 |
36,950,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6869:Stxbp5l
|
UTSW |
16 |
37,024,810 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6892:Stxbp5l
|
UTSW |
16 |
37,008,991 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7369:Stxbp5l
|
UTSW |
16 |
36,954,703 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7555:Stxbp5l
|
UTSW |
16 |
37,143,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Stxbp5l
|
UTSW |
16 |
37,030,534 (GRCm39) |
missense |
probably null |
0.21 |
|
R8171:Stxbp5l
|
UTSW |
16 |
37,028,416 (GRCm39) |
missense |
noncoding transcript |
|
|
R8338:Stxbp5l
|
UTSW |
16 |
36,994,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Stxbp5l
|
UTSW |
16 |
37,061,809 (GRCm39) |
missense |
probably benign |
|
|
R8833:Stxbp5l
|
UTSW |
16 |
37,024,814 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8883:Stxbp5l
|
UTSW |
16 |
37,036,414 (GRCm39) |
frame shift |
probably null |
|
|
R8898:Stxbp5l
|
UTSW |
16 |
37,036,414 (GRCm39) |
frame shift |
probably null |
|
|
R8899:Stxbp5l
|
UTSW |
16 |
37,036,414 (GRCm39) |
frame shift |
probably null |
|
|
R8906:Stxbp5l
|
UTSW |
16 |
37,028,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8918:Stxbp5l
|
UTSW |
16 |
36,954,892 (GRCm39) |
missense |
|
|
|
R8959:Stxbp5l
|
UTSW |
16 |
37,036,414 (GRCm39) |
frame shift |
probably null |
|
|
R8961:Stxbp5l
|
UTSW |
16 |
37,036,414 (GRCm39) |
frame shift |
probably null |
|
|
R8989:Stxbp5l
|
UTSW |
16 |
37,036,414 (GRCm39) |
frame shift |
probably null |
|
|
R9027:Stxbp5l
|
UTSW |
16 |
37,165,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9044:Stxbp5l
|
UTSW |
16 |
37,024,930 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9226:Stxbp5l
|
UTSW |
16 |
37,076,206 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9284:Stxbp5l
|
UTSW |
16 |
37,028,442 (GRCm39) |
nonsense |
probably null |
|
|
R9351:Stxbp5l
|
UTSW |
16 |
36,936,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Stxbp5l
|
UTSW |
16 |
36,994,706 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9545:Stxbp5l
|
UTSW |
16 |
37,028,625 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9567:Stxbp5l
|
UTSW |
16 |
37,061,734 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9616:Stxbp5l
|
UTSW |
16 |
37,036,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Stxbp5l
|
UTSW |
16 |
37,165,485 (GRCm39) |
missense |
probably benign |
0.38 |
|
Z1088:Stxbp5l
|
UTSW |
16 |
37,024,851 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAGCACCTGTTACCATG -3'
(R):5'- CAGTATGATGCTGTCATTCTCTACC -3'
Sequencing Primer
(F):5'- GCACCTGTTACCATGATAAACG -3'
(R):5'- GCATATTTCATATTGCCATCCAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation