Incidental Mutation 'R1424:Sh3bp1'
ID |
247309 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3bp1
|
Ensembl Gene |
ENSMUSG00000022436 |
Gene Name |
SH3-domain binding protein 1 |
Synonyms |
3BP-1 |
MMRRC Submission |
039480-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R1424 (G1)
|
Quality Score |
49 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
78783994-78796247 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 78787899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154996
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001226]
[ENSMUST00000001226]
[ENSMUST00000001226]
[ENSMUST00000001226]
[ENSMUST00000001226]
[ENSMUST00000001226]
[ENSMUST00000061239]
[ENSMUST00000061239]
[ENSMUST00000061239]
[ENSMUST00000109698]
[ENSMUST00000109698]
[ENSMUST00000109698]
[ENSMUST00000132047]
[ENSMUST00000132047]
[ENSMUST00000132047]
[ENSMUST00000134703]
[ENSMUST00000134703]
[ENSMUST00000134703]
[ENSMUST00000148893]
[ENSMUST00000151146]
[ENSMUST00000151146]
[ENSMUST00000151146]
|
AlphaFold |
P55194 |
Predicted Effect |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably benign
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: 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: 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 null
Transcript: ENSMUST00000134703
|
Predicted Effect |
probably null
Transcript: ENSMUST00000134703
|
Predicted Effect |
probably null
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 |
probably benign
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 |
probably benign
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 |
probably benign
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: ENSMUST00000231057
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229803
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229492
|
Meta Mutation Damage Score |
0.9494 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.6%
|
Validation Efficiency |
97% (57/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
C |
A |
12: 72,939,669 (GRCm39) |
E415* |
probably null |
Het |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Acad12 |
C |
T |
5: 121,742,385 (GRCm39) |
A408T |
probably benign |
Het |
Acox2 |
T |
A |
14: 8,230,247 (GRCm38) |
H632L |
probably benign |
Het |
Anxa5 |
A |
T |
3: 36,506,441 (GRCm39) |
|
probably null |
Het |
Ap1m2 |
A |
T |
9: 21,209,500 (GRCm39) |
I392N |
possibly damaging |
Het |
Casp2 |
T |
C |
6: 42,253,725 (GRCm39) |
|
probably benign |
Het |
Cel |
C |
T |
2: 28,449,636 (GRCm39) |
A243T |
probably damaging |
Het |
Depp1 |
A |
G |
6: 116,628,966 (GRCm39) |
N103S |
possibly damaging |
Het |
Dgka |
A |
T |
10: 128,569,202 (GRCm39) |
S177T |
possibly damaging |
Het |
Dnajc6 |
A |
G |
4: 101,496,544 (GRCm39) |
T836A |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,790,392 (GRCm39) |
S1444G |
probably damaging |
Het |
Dtl |
T |
C |
1: 191,293,649 (GRCm39) |
D176G |
probably benign |
Het |
Eif4g1 |
T |
C |
16: 20,497,692 (GRCm39) |
I230T |
probably benign |
Het |
Fam227a |
T |
A |
15: 79,518,309 (GRCm39) |
I328F |
probably benign |
Het |
Fam98a |
A |
G |
17: 75,847,173 (GRCm39) |
L179S |
probably damaging |
Het |
Fgb |
A |
T |
3: 82,954,070 (GRCm39) |
I56N |
probably damaging |
Het |
Fmo1 |
C |
T |
1: 162,657,635 (GRCm39) |
R502Q |
probably damaging |
Het |
Fndc3a |
C |
T |
14: 72,811,811 (GRCm39) |
A340T |
probably damaging |
Het |
Gli3 |
C |
A |
13: 15,900,899 (GRCm39) |
Q1429K |
probably benign |
Het |
Gm3443 |
A |
T |
19: 21,534,959 (GRCm39) |
I75F |
possibly damaging |
Het |
Gtpbp6 |
C |
T |
5: 110,252,155 (GRCm39) |
|
probably null |
Het |
Gtsf1 |
A |
T |
15: 103,318,070 (GRCm39) |
Y156* |
probably null |
Het |
Hmcn1 |
T |
C |
1: 150,522,545 (GRCm39) |
T3452A |
probably benign |
Het |
Kcnj10 |
T |
A |
1: 172,196,822 (GRCm39) |
V112E |
probably damaging |
Het |
Lama3 |
C |
A |
18: 12,653,048 (GRCm39) |
T256K |
probably benign |
Het |
Lrrc8d |
G |
A |
5: 105,974,782 (GRCm39) |
V63M |
unknown |
Het |
Matn3 |
G |
T |
12: 9,011,132 (GRCm39) |
A348S |
possibly damaging |
Het |
Mmp16 |
A |
G |
4: 18,112,121 (GRCm39) |
|
probably null |
Het |
Nsd3 |
A |
G |
8: 26,190,594 (GRCm39) |
N175S |
probably damaging |
Het |
Or11h4 |
A |
T |
14: 50,974,521 (GRCm39) |
F33I |
probably benign |
Het |
Or1d2 |
C |
A |
11: 74,255,780 (GRCm39) |
P95Q |
probably benign |
Het |
Or4c35 |
C |
T |
2: 89,808,415 (GRCm39) |
Q98* |
probably null |
Het |
Or4k5 |
C |
A |
14: 50,385,922 (GRCm39) |
M136I |
possibly damaging |
Het |
Pcdhb12 |
T |
A |
18: 37,571,132 (GRCm39) |
N759K |
probably benign |
Het |
Pcsk2 |
T |
C |
2: 143,415,348 (GRCm39) |
|
probably benign |
Het |
Polq |
G |
A |
16: 36,906,890 (GRCm39) |
D2284N |
probably damaging |
Het |
Prdm12 |
C |
T |
2: 31,533,823 (GRCm39) |
R147C |
probably damaging |
Het |
Ptprz1 |
A |
G |
6: 23,000,382 (GRCm39) |
D824G |
probably benign |
Het |
Rere |
C |
T |
4: 150,701,495 (GRCm39) |
R1292C |
probably damaging |
Het |
Rptor |
T |
A |
11: 119,671,419 (GRCm39) |
L294* |
probably null |
Het |
Sbf2 |
A |
T |
7: 109,914,233 (GRCm39) |
C1650S |
probably damaging |
Het |
Sdk1 |
C |
T |
5: 142,147,621 (GRCm39) |
T1751I |
probably damaging |
Het |
Shank2 |
T |
A |
7: 143,606,109 (GRCm39) |
D97E |
probably damaging |
Het |
Tab2 |
A |
C |
10: 7,795,812 (GRCm39) |
S149R |
possibly damaging |
Het |
Taok1 |
G |
T |
11: 77,440,190 (GRCm39) |
R606S |
probably benign |
Het |
Tas2r121 |
A |
G |
6: 132,677,645 (GRCm39) |
L109P |
probably damaging |
Het |
Tmem117 |
A |
G |
15: 94,829,689 (GRCm39) |
M175V |
probably benign |
Het |
Tmprss11b |
T |
C |
5: 86,812,832 (GRCm39) |
K155E |
probably benign |
Het |
Tmtc2 |
G |
T |
10: 105,249,229 (GRCm39) |
T168N |
probably benign |
Het |
Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
Tsga10ip |
C |
T |
19: 5,440,942 (GRCm39) |
|
probably null |
Het |
Tuba8 |
A |
G |
6: 121,197,470 (GRCm39) |
N44S |
probably benign |
Het |
Ube2o |
A |
G |
11: 116,434,558 (GRCm39) |
V590A |
probably benign |
Het |
Ush2a |
T |
G |
1: 188,275,075 (GRCm39) |
|
probably null |
Het |
Vmn2r23 |
T |
A |
6: 123,690,229 (GRCm39) |
Y368* |
probably null |
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 |
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 |
R2415:Sh3bp1
|
UTSW |
15 |
78,785,361 (GRCm39) |
start gained |
probably benign |
|
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 |
PCR Primer
(F):5'- GGCCATGTTGGTCCTTGAGAACAC -3'
(R):5'- GCACATAAGTACAGCAGAGGTCCTG -3'
Sequencing Primer
(F):5'- GTAGTCTCCAAGATCCCTAGATGG -3'
(R):5'- AGAGGTCCTGGGCGGTG -3'
|
Posted On |
2014-11-07 |