Incidental Mutation 'R2415:Sh3bp1'
ID |
476187 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3bp1
|
Ensembl Gene |
ENSMUSG00000022436 |
Gene Name |
SH3-domain binding protein 1 |
Synonyms |
3BP-1 |
MMRRC Submission |
040379-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R2415 (G1)
|
Quality Score |
197 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
78783994-78796247 bp(+) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
C to T
at 78785361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001226]
[ENSMUST00000061239]
[ENSMUST00000109698]
[ENSMUST00000132047]
[ENSMUST00000134703]
[ENSMUST00000148893]
[ENSMUST00000151146]
|
AlphaFold |
P55194 |
Predicted Effect |
silent
Transcript: ENSMUST00000001226
|
SMART Domains |
Protein: ENSMUSP00000001226 Gene: ENSMUSG00000022436
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
2 |
254 |
7e-37 |
PFAM |
RhoGAP
|
287 |
466 |
2.04e-63 |
SMART |
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
low complexity region
|
558 |
593 |
N/A |
INTRINSIC |
low complexity region
|
604 |
633 |
N/A |
INTRINSIC |
low complexity region
|
661 |
672 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000061239
|
SMART Domains |
Protein: ENSMUSP00000052181 Gene: ENSMUSG00000022436
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
2 |
254 |
2.2e-36 |
PFAM |
RhoGAP
|
287 |
466 |
2.04e-63 |
SMART |
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000109698
|
SMART Domains |
Protein: ENSMUSP00000105320 Gene: ENSMUSG00000022436
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
2 |
254 |
2.2e-36 |
PFAM |
RhoGAP
|
287 |
466 |
2.04e-63 |
SMART |
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000132047
|
SMART Domains |
Protein: ENSMUSP00000138598 Gene: ENSMUSG00000022436
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
2 |
254 |
5.4e-36 |
PFAM |
RhoGAP
|
287 |
466 |
2.04e-63 |
SMART |
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134703
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148893
|
SMART Domains |
Protein: ENSMUSP00000117839 Gene: ENSMUSG00000022436
Domain | Start | End | E-Value | Type |
Blast:BAR
|
2 |
55 |
1e-5 |
BLAST |
|
Predicted Effect |
silent
Transcript: ENSMUST00000151146
|
SMART Domains |
Protein: ENSMUSP00000138780 Gene: ENSMUSG00000022436
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
2 |
143 |
9e-22 |
PFAM |
low complexity region
|
160 |
177 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229492
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano6 |
A |
T |
15: 95,860,161 (GRCm39) |
N761I |
probably damaging |
Het |
Atad5 |
T |
C |
11: 79,985,077 (GRCm39) |
S55P |
probably damaging |
Het |
Cul9 |
T |
A |
17: 46,854,364 (GRCm39) |
T113S |
probably benign |
Het |
Ddx56 |
G |
A |
11: 6,211,727 (GRCm39) |
|
probably benign |
Het |
Dnttip2 |
T |
C |
3: 122,070,186 (GRCm39) |
V467A |
probably damaging |
Het |
Efhb |
A |
T |
17: 53,770,124 (GRCm39) |
F62I |
probably benign |
Het |
Efl1 |
T |
A |
7: 82,347,175 (GRCm39) |
M567K |
probably damaging |
Het |
Fbxw21 |
G |
T |
9: 108,985,469 (GRCm39) |
A103E |
possibly damaging |
Het |
Flnb |
T |
A |
14: 7,929,932 (GRCm38) |
S2021T |
probably benign |
Het |
Gabpa |
T |
C |
16: 84,641,256 (GRCm39) |
|
probably null |
Het |
Grid1 |
A |
T |
14: 35,172,326 (GRCm39) |
I611F |
possibly damaging |
Het |
Hdac1 |
A |
C |
4: 129,416,754 (GRCm39) |
|
probably null |
Het |
Kcnk5 |
T |
C |
14: 20,191,880 (GRCm39) |
E427G |
possibly damaging |
Het |
Kcnu1 |
A |
T |
8: 26,400,906 (GRCm39) |
T685S |
probably benign |
Het |
Khdc1b |
A |
G |
1: 21,454,534 (GRCm39) |
D79G |
probably benign |
Het |
Ky |
G |
T |
9: 102,419,090 (GRCm39) |
G366W |
probably damaging |
Het |
Limch1 |
T |
C |
5: 67,131,977 (GRCm39) |
S147P |
probably damaging |
Het |
Mroh1 |
A |
G |
15: 76,305,411 (GRCm39) |
K405E |
probably damaging |
Het |
Myo15b |
T |
G |
11: 115,770,390 (GRCm39) |
F67V |
probably benign |
Het |
Nlrp4c |
A |
G |
7: 6,069,047 (GRCm39) |
D316G |
probably damaging |
Het |
Nudt12 |
A |
G |
17: 59,313,603 (GRCm39) |
V325A |
probably damaging |
Het |
Pdia4 |
G |
T |
6: 47,783,490 (GRCm39) |
D184E |
probably benign |
Het |
Per3 |
A |
C |
4: 151,097,147 (GRCm39) |
F793V |
possibly damaging |
Het |
Pla1a |
T |
A |
16: 38,228,112 (GRCm39) |
Y255F |
possibly damaging |
Het |
Rxfp1 |
A |
G |
3: 79,570,626 (GRCm39) |
S269P |
probably benign |
Het |
S100pbp |
A |
T |
4: 129,075,614 (GRCm39) |
V118D |
possibly damaging |
Het |
Sec24b |
A |
T |
3: 129,789,729 (GRCm39) |
I764N |
probably benign |
Het |
Surf6 |
C |
T |
2: 26,782,274 (GRCm39) |
R351H |
probably damaging |
Het |
Tspan15 |
A |
G |
10: 62,037,570 (GRCm39) |
I115T |
probably benign |
Het |
Vmn2r73 |
T |
C |
7: 85,521,431 (GRCm39) |
Y179C |
probably damaging |
Het |
Zfp750 |
T |
C |
11: 121,403,305 (GRCm39) |
D481G |
probably benign |
Het |
|
Other mutations in Sh3bp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00944:Sh3bp1
|
APN |
15 |
78,789,314 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL01879:Sh3bp1
|
APN |
15 |
78,792,192 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02112:Sh3bp1
|
APN |
15 |
78,790,084 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02216:Sh3bp1
|
APN |
15 |
78,789,364 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02385:Sh3bp1
|
APN |
15 |
78,790,088 (GRCm39) |
splice site |
probably benign |
|
IGL02417:Sh3bp1
|
APN |
15 |
78,785,699 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02551:Sh3bp1
|
APN |
15 |
78,788,538 (GRCm39) |
missense |
probably benign |
0.01 |
PIT1430001:Sh3bp1
|
UTSW |
15 |
78,798,224 (GRCm39) |
missense |
probably benign |
|
PIT4585001:Sh3bp1
|
UTSW |
15 |
78,794,276 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0255:Sh3bp1
|
UTSW |
15 |
78,788,534 (GRCm39) |
nonsense |
probably null |
|
R0318:Sh3bp1
|
UTSW |
15 |
78,795,907 (GRCm39) |
missense |
probably damaging |
0.97 |
R0544:Sh3bp1
|
UTSW |
15 |
78,789,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R0554:Sh3bp1
|
UTSW |
15 |
78,791,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R1424:Sh3bp1
|
UTSW |
15 |
78,787,899 (GRCm39) |
critical splice donor site |
probably null |
|
R1465:Sh3bp1
|
UTSW |
15 |
78,791,545 (GRCm39) |
splice site |
probably benign |
|
R1813:Sh3bp1
|
UTSW |
15 |
78,787,880 (GRCm39) |
missense |
probably damaging |
0.96 |
R1835:Sh3bp1
|
UTSW |
15 |
78,789,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Sh3bp1
|
UTSW |
15 |
78,802,519 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2509:Sh3bp1
|
UTSW |
15 |
78,795,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R2511:Sh3bp1
|
UTSW |
15 |
78,795,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R3054:Sh3bp1
|
UTSW |
15 |
78,795,622 (GRCm39) |
missense |
probably benign |
0.01 |
R3827:Sh3bp1
|
UTSW |
15 |
78,788,697 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3855:Sh3bp1
|
UTSW |
15 |
78,785,361 (GRCm39) |
start gained |
probably benign |
|
R4767:Sh3bp1
|
UTSW |
15 |
78,788,697 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4787:Sh3bp1
|
UTSW |
15 |
78,792,195 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4852:Sh3bp1
|
UTSW |
15 |
78,788,538 (GRCm39) |
missense |
probably benign |
0.01 |
R4872:Sh3bp1
|
UTSW |
15 |
78,792,237 (GRCm39) |
missense |
probably benign |
0.31 |
R5194:Sh3bp1
|
UTSW |
15 |
78,787,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R6320:Sh3bp1
|
UTSW |
15 |
78,795,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R6322:Sh3bp1
|
UTSW |
15 |
78,795,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R6569:Sh3bp1
|
UTSW |
15 |
78,795,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R6678:Sh3bp1
|
UTSW |
15 |
78,792,714 (GRCm39) |
critical splice donor site |
probably null |
|
R6905:Sh3bp1
|
UTSW |
15 |
78,789,230 (GRCm39) |
missense |
probably benign |
0.00 |
R7564:Sh3bp1
|
UTSW |
15 |
78,795,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R7744:Sh3bp1
|
UTSW |
15 |
78,794,209 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7916:Sh3bp1
|
UTSW |
15 |
78,791,421 (GRCm39) |
missense |
probably benign |
0.01 |
R8048:Sh3bp1
|
UTSW |
15 |
78,794,272 (GRCm39) |
missense |
probably benign |
0.26 |
R8887:Sh3bp1
|
UTSW |
15 |
78,788,540 (GRCm39) |
critical splice donor site |
probably null |
|
R9043:Sh3bp1
|
UTSW |
15 |
78,791,449 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9057:Sh3bp1
|
UTSW |
15 |
78,794,209 (GRCm39) |
missense |
probably benign |
0.00 |
R9548:Sh3bp1
|
UTSW |
15 |
78,788,673 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9666:Sh3bp1
|
UTSW |
15 |
78,792,622 (GRCm39) |
missense |
probably benign |
0.10 |
Z1177:Sh3bp1
|
UTSW |
15 |
78,786,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2017-05-11 |