Incidental Mutation 'R4787:Sh3bp1'
| ID |
367197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3bp1
|
| Ensembl Gene |
ENSMUSG00000022436 |
| Gene Name |
SH3-domain binding protein 1 |
| Synonyms |
3BP-1 |
| MMRRC Submission |
041975-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R4787 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78783994-78796247 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78792195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 451
(S451P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001226]
[ENSMUST00000061239]
[ENSMUST00000109698]
[ENSMUST00000132047]
[ENSMUST00000134703]
[ENSMUST00000151146]
|
| AlphaFold |
P55194 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001226
AA Change: S451P
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436
AA Change: S451P
| 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: S451P
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052181
Gene: ENSMUSG00000022436
AA Change: S451P
| 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: ENSMUST00000109698
AA Change: S451P
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105320
Gene: ENSMUSG00000022436
AA Change: S451P
| 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: S451P
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138598
Gene: ENSMUSG00000022436
AA Change: S451P
| 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: S387P
PolyPhen 2
Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150472
|
| 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: ENSMUST00000229492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229803
|
| Meta Mutation Damage Score |
0.8723 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
C |
A |
8: 73,199,008 (GRCm39) |
Y138* |
probably null |
Het |
| 4933440M02Rik |
T |
C |
7: 124,930,714 (GRCm39) |
|
noncoding transcript |
Het |
| Amy2b |
T |
C |
3: 113,058,634 (GRCm39) |
|
noncoding transcript |
Het |
| Anxa1 |
T |
A |
19: 20,351,118 (GRCm39) |
D334V |
probably damaging |
Het |
| Atoh8 |
T |
C |
6: 72,200,761 (GRCm39) |
T310A |
possibly damaging |
Het |
| BC002059 |
G |
A |
17: 17,193,810 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc40 |
A |
G |
11: 119,144,447 (GRCm39) |
D924G |
possibly damaging |
Het |
| Ccm2l |
A |
T |
2: 152,921,422 (GRCm39) |
M433L |
probably benign |
Het |
| Cd209e |
T |
C |
8: 3,901,181 (GRCm39) |
S158G |
probably null |
Het |
| Cdkn2a |
C |
T |
4: 89,194,955 (GRCm39) |
R153H |
unknown |
Het |
| Cfap69 |
A |
G |
5: 5,696,934 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,808,280 (GRCm39) |
T923A |
unknown |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Ddrgk1 |
A |
G |
2: 130,500,248 (GRCm39) |
F216S |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,180,310 (GRCm39) |
C1995* |
probably null |
Het |
| Epb41l5 |
G |
A |
1: 119,523,725 (GRCm39) |
P467S |
probably benign |
Het |
| Extl1 |
G |
A |
4: 134,091,978 (GRCm39) |
L292F |
probably damaging |
Het |
| Fsd1 |
A |
G |
17: 56,303,257 (GRCm39) |
N409D |
possibly damaging |
Het |
| Gm15455 |
A |
T |
1: 33,876,803 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8894 |
A |
G |
14: 55,658,172 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c2 |
C |
T |
5: 31,314,921 (GRCm39) |
S942N |
probably benign |
Het |
| Gvin-ps3 |
T |
C |
7: 105,681,041 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Ab1 |
A |
T |
17: 34,486,441 (GRCm39) |
T167S |
possibly damaging |
Het |
| Ighv8-9 |
C |
T |
12: 115,432,134 (GRCm39) |
R59H |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,228,752 (GRCm39) |
V171I |
probably benign |
Het |
| Il31ra |
C |
T |
13: 112,664,079 (GRCm39) |
E533K |
possibly damaging |
Het |
| Iqgap1 |
A |
C |
7: 80,385,261 (GRCm39) |
L1022R |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,813 (GRCm39) |
F516L |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,668,081 (GRCm39) |
T47A |
possibly damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,548,175 (GRCm39) |
|
probably benign |
Het |
| Ldhb-ps |
C |
A |
19: 21,915,601 (GRCm39) |
|
noncoding transcript |
Het |
| Lipo3 |
T |
A |
19: 33,757,749 (GRCm39) |
Q240L |
probably benign |
Het |
| Lpar5 |
A |
G |
6: 125,059,461 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
A |
G |
15: 91,597,031 (GRCm39) |
D541G |
probably benign |
Het |
| Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
| Meig1 |
A |
G |
2: 3,410,251 (GRCm39) |
V83A |
possibly damaging |
Het |
| Natd1 |
A |
C |
11: 60,797,822 (GRCm39) |
C34W |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,178,996 (GRCm39) |
C689S |
probably damaging |
Het |
| Or4c104 |
T |
A |
2: 88,586,219 (GRCm39) |
K267* |
probably null |
Het |
| Or52u1 |
T |
C |
7: 104,237,167 (GRCm39) |
M52T |
probably benign |
Het |
| Or5d35 |
T |
C |
2: 87,855,204 (GRCm39) |
M46T |
possibly damaging |
Het |
| Or6a2 |
G |
A |
7: 106,600,293 (GRCm39) |
A258V |
probably benign |
Het |
| Pdgfrb |
A |
C |
18: 61,212,759 (GRCm39) |
S888R |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,115,979 (GRCm39) |
E626G |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 44,990,050 (GRCm39) |
A1159S |
possibly damaging |
Het |
| Pramel32 |
T |
A |
4: 88,547,450 (GRCm39) |
K74* |
probably null |
Het |
| Prex1 |
A |
G |
2: 166,480,260 (GRCm39) |
V160A |
probably benign |
Het |
| Psmb7 |
C |
T |
2: 38,478,283 (GRCm39) |
C247Y |
probably benign |
Het |
| Rbm33 |
C |
T |
5: 28,547,435 (GRCm39) |
|
probably null |
Het |
| Rfc5 |
T |
C |
5: 117,520,485 (GRCm39) |
T236A |
probably benign |
Het |
| Sdk1 |
G |
T |
5: 141,568,168 (GRCm39) |
R122L |
probably benign |
Het |
| Smap1 |
G |
T |
1: 23,888,347 (GRCm39) |
|
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,462,927 (GRCm39) |
V639E |
probably damaging |
Het |
| Synpo2l |
T |
A |
14: 20,711,765 (GRCm39) |
Q511L |
possibly damaging |
Het |
| Taok2 |
G |
A |
7: 126,467,304 (GRCm39) |
S167L |
possibly damaging |
Het |
| Tbc1d17 |
G |
A |
7: 44,492,488 (GRCm39) |
P392S |
probably benign |
Het |
| Tef |
T |
A |
15: 81,707,758 (GRCm39) |
I261N |
probably damaging |
Het |
| Tmbim1 |
T |
C |
1: 74,334,519 (GRCm39) |
N14D |
possibly damaging |
Het |
| Tmprss11c |
T |
C |
5: 86,404,312 (GRCm39) |
K121R |
probably benign |
Het |
| Trim36 |
C |
A |
18: 46,305,599 (GRCm39) |
M461I |
probably benign |
Het |
| Trpc1 |
T |
A |
9: 95,603,468 (GRCm39) |
M355L |
probably benign |
Het |
| Tspyl4 |
A |
C |
10: 34,173,760 (GRCm39) |
D84A |
probably benign |
Het |
| Twf1 |
G |
T |
15: 94,482,315 (GRCm39) |
P144T |
probably damaging |
Het |
| Ugt1a7c |
T |
C |
1: 88,023,392 (GRCm39) |
C184R |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,013,257 (GRCm39) |
P283S |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,796,860 (GRCm39) |
C49R |
probably benign |
Het |
| Wdr11 |
T |
A |
7: 129,210,658 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,152,816 (GRCm39) |
M97K |
possibly damaging |
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 |
|
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'- GGCAGTCAATCCAAGACCTG -3'
(R):5'- AAGGATGGGACTTCTCTTTGC -3'
Sequencing Primer
(F):5'- CGATAGCCCAGAATCGATTAGTG -3'
(R):5'- TTCCATGGGTAAGACAGAACCGTTC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation