Incidental Mutation 'R7744:Sh3bp1'
ID |
596757 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3bp1
|
Ensembl Gene |
ENSMUSG00000022436 |
Gene Name |
SH3-domain binding protein 1 |
Synonyms |
3BP-1 |
MMRRC Submission |
045800-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R7744 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
78783994-78796247 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 78794209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 526
(T526P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052181
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001226]
[ENSMUST00000061239]
[ENSMUST00000089378]
[ENSMUST00000109698]
[ENSMUST00000132047]
[ENSMUST00000134703]
[ENSMUST00000151146]
|
AlphaFold |
P55194 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001226
AA Change: T526P
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000001226 Gene: ENSMUSG00000022436 AA Change: T526P
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 |
possibly damaging
Transcript: ENSMUST00000061239
AA Change: T526P
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000052181 Gene: ENSMUSG00000022436 AA Change: T526P
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: ENSMUST00000089378
|
SMART Domains |
Protein: ENSMUSP00000086796 Gene: ENSMUSG00000116165
Domain | Start | End | E-Value | Type |
Pfam:Hydrolase
|
19 |
247 |
3.6e-13 |
PFAM |
Pfam:Hydrolase_6
|
22 |
128 |
3.2e-29 |
PFAM |
Pfam:Hydrolase_like
|
206 |
286 |
2.2e-22 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109698
AA Change: T526P
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000105320 Gene: ENSMUSG00000022436 AA Change: T526P
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 |
possibly damaging
Transcript: ENSMUST00000132047
AA Change: T526P
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000138598 Gene: ENSMUSG00000022436 AA Change: T526P
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 |
possibly damaging
Transcript: ENSMUST00000134703
AA Change: T462P
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
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 |
|
Meta Mutation Damage Score |
0.0709 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,240,421 (GRCm39) |
N761K |
possibly damaging |
Het |
Abi2 |
A |
G |
1: 60,476,362 (GRCm39) |
I145V |
probably benign |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Atf7ip2 |
T |
A |
16: 10,059,522 (GRCm39) |
V354E |
possibly damaging |
Het |
Bglap |
T |
C |
3: 88,290,958 (GRCm39) |
Y91C |
probably damaging |
Het |
Cacna1e |
A |
T |
1: 154,341,538 (GRCm39) |
S1219T |
probably damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cd177 |
A |
G |
7: 24,449,800 (GRCm39) |
C562R |
probably damaging |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Chd7 |
T |
A |
4: 8,862,485 (GRCm39) |
|
probably null |
Het |
Dyrk3 |
A |
G |
1: 131,057,543 (GRCm39) |
V210A |
probably damaging |
Het |
Eif3c |
C |
A |
7: 126,158,066 (GRCm39) |
G297W |
probably damaging |
Het |
Eml1 |
A |
G |
12: 108,482,863 (GRCm39) |
H494R |
probably benign |
Het |
Enpp2 |
A |
T |
15: 54,764,629 (GRCm39) |
|
probably null |
Het |
Fbxw21 |
C |
A |
9: 108,986,720 (GRCm39) |
C53F |
possibly damaging |
Het |
Fndc3a |
C |
A |
14: 72,799,156 (GRCm39) |
G609V |
possibly damaging |
Het |
Grid1 |
A |
G |
14: 35,172,036 (GRCm39) |
D514G |
probably damaging |
Het |
Gxylt2 |
T |
C |
6: 100,760,278 (GRCm39) |
V271A |
probably damaging |
Het |
Hes1 |
A |
G |
16: 29,884,997 (GRCm39) |
K74R |
probably damaging |
Het |
Igsf9 |
A |
G |
1: 172,319,752 (GRCm39) |
N349S |
probably benign |
Het |
Isx |
T |
A |
8: 75,600,285 (GRCm39) |
I6N |
possibly damaging |
Het |
Kcnb1 |
A |
T |
2: 167,030,251 (GRCm39) |
F98Y |
probably damaging |
Het |
Kif1b |
G |
C |
4: 149,321,532 (GRCm39) |
T1129R |
possibly damaging |
Het |
Klra10 |
T |
A |
6: 130,249,724 (GRCm39) |
|
probably null |
Het |
Mcm10 |
A |
T |
2: 4,996,253 (GRCm39) |
L870Q |
probably damaging |
Het |
Mettl16 |
T |
A |
11: 74,693,829 (GRCm39) |
I280K |
probably benign |
Het |
Mre11a |
G |
A |
9: 14,721,128 (GRCm39) |
R349Q |
possibly damaging |
Het |
Mrpl10 |
C |
T |
11: 96,935,402 (GRCm39) |
T34I |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,496,392 (GRCm39) |
|
probably null |
Het |
Myt1l |
T |
C |
12: 29,877,548 (GRCm39) |
C400R |
unknown |
Het |
Nbr1 |
C |
T |
11: 101,460,210 (GRCm39) |
T402M |
probably damaging |
Het |
Ndufs1 |
A |
G |
1: 63,200,099 (GRCm39) |
M271T |
possibly damaging |
Het |
Or10q1 |
A |
G |
19: 13,727,419 (GRCm39) |
*316W |
probably null |
Het |
Or4c29 |
C |
T |
2: 88,740,003 (GRCm39) |
V245I |
possibly damaging |
Het |
Or51f23c-ps1 |
G |
T |
7: 102,431,597 (GRCm39) |
V305L |
probably benign |
Het |
Pakap |
T |
C |
4: 57,709,519 (GRCm39) |
S155P |
probably damaging |
Het |
Pced1a |
C |
T |
2: 130,263,972 (GRCm39) |
D227N |
probably damaging |
Het |
Phf21b |
A |
G |
15: 84,689,070 (GRCm39) |
I152T |
probably damaging |
Het |
Pla2g4a |
A |
G |
1: 149,736,853 (GRCm39) |
V430A |
probably benign |
Het |
Plbd1 |
T |
C |
6: 136,594,244 (GRCm39) |
E335G |
probably benign |
Het |
Plce1 |
G |
A |
19: 38,608,899 (GRCm39) |
V403M |
possibly damaging |
Het |
Pnpla6 |
T |
A |
8: 3,581,677 (GRCm39) |
N642K |
probably benign |
Het |
Ptprb |
T |
C |
10: 116,113,389 (GRCm39) |
I123T |
probably benign |
Het |
Rab3il1 |
T |
A |
19: 10,005,641 (GRCm39) |
|
probably null |
Het |
Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
Rasgrp2 |
T |
C |
19: 6,455,031 (GRCm39) |
S254P |
probably damaging |
Het |
Rgl3 |
T |
C |
9: 21,898,866 (GRCm39) |
K191R |
probably benign |
Het |
Rnf223 |
G |
A |
4: 156,216,982 (GRCm39) |
R119H |
probably benign |
Het |
Sapcd2 |
C |
T |
2: 25,263,508 (GRCm39) |
P217S |
unknown |
Het |
Setd7 |
C |
T |
3: 51,434,261 (GRCm39) |
|
probably null |
Het |
Slc17a4 |
C |
A |
13: 24,085,767 (GRCm39) |
W382L |
probably benign |
Het |
Slc26a3 |
A |
T |
12: 31,513,464 (GRCm39) |
|
probably null |
Het |
Tmem129 |
A |
G |
5: 33,811,732 (GRCm39) |
L356P |
probably damaging |
Het |
Trib1 |
T |
A |
15: 59,526,512 (GRCm39) |
Y361N |
probably benign |
Het |
Xirp1 |
T |
A |
9: 119,845,912 (GRCm39) |
R990S |
possibly damaging |
Het |
Zfp950 |
A |
C |
19: 61,116,010 (GRCm39) |
|
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 |
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 |
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 |
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'- ACACCTGAAGTATCTAGTCAAGAG -3'
(R):5'- CCAAGGAATAAGCTGGGTCC -3'
Sequencing Primer
(F):5'- TCAAGAGACTAAGACCGAGGACAC -3'
(R):5'- GCCCAGAGCTTCTCACTATG -3'
|
Posted On |
2019-11-26 |