Incidental Mutation 'PIT4585001:Sh3bp1'
| ID |
556628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3bp1
|
| Ensembl Gene |
ENSMUSG00000022436 |
| Gene Name |
SH3-domain binding protein 1 |
| Synonyms |
3BP-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
PIT4585001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78783994-78796247 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78794276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 548
(S548L)
|
| 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: S548L
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436
AA Change: S548L
| 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: S548L
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052181
Gene: ENSMUSG00000022436
AA Change: S548L
| 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: S548L
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105320
Gene: ENSMUSG00000022436
AA Change: S548L
| 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: S548L
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138598
Gene: ENSMUSG00000022436
AA Change: S548L
| 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: S484L
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| 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 |
|
| Coding Region Coverage |
- 1x: 93.6%
- 3x: 91.2%
- 10x: 86.5%
- 20x: 76.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aurka |
T |
C |
2: 172,199,117 (GRCm39) |
M318V |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,531,342 (GRCm39) |
D560E |
probably damaging |
Het |
| Ccdc148 |
T |
A |
2: 58,872,988 (GRCm39) |
T202S |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,271,412 (GRCm39) |
D1149G |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,390,285 (GRCm39) |
N156K |
probably damaging |
Het |
| Cox18 |
G |
A |
5: 90,365,434 (GRCm39) |
T255I |
possibly damaging |
Het |
| Cse1l |
A |
G |
2: 166,783,394 (GRCm39) |
T783A |
probably damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,491,996 (GRCm39) |
Y609C |
probably damaging |
Het |
| Doc2g |
A |
G |
19: 4,056,630 (GRCm39) |
T339A |
probably benign |
Het |
| Eif5a |
T |
C |
11: 69,808,896 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,386,940 (GRCm39) |
|
probably null |
Het |
| Esco1 |
A |
T |
18: 10,594,355 (GRCm39) |
C310* |
probably null |
Het |
| Fam222a |
A |
G |
5: 114,749,101 (GRCm39) |
Y99C |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,496,573 (GRCm39) |
L339P |
probably damaging |
Het |
| Gfral |
A |
T |
9: 76,104,576 (GRCm39) |
N145K |
probably damaging |
Het |
| Gga1 |
T |
A |
15: 78,777,990 (GRCm39) |
N618K |
probably benign |
Het |
| Gpatch3 |
T |
A |
4: 133,310,397 (GRCm39) |
H447Q |
probably damaging |
Het |
| Gpn1 |
A |
T |
5: 31,666,747 (GRCm39) |
R346* |
probably null |
Het |
| Gsg1 |
T |
C |
6: 135,214,558 (GRCm39) |
E317G |
probably benign |
Het |
| Gsk3b |
A |
G |
16: 38,004,816 (GRCm39) |
N129S |
probably damaging |
Het |
| Hmg20b |
G |
T |
10: 81,184,789 (GRCm39) |
D94E |
possibly damaging |
Het |
| Kash5 |
C |
T |
7: 44,849,695 (GRCm39) |
G76D |
probably benign |
Het |
| Klhdc9 |
T |
A |
1: 171,187,386 (GRCm39) |
H204L |
possibly damaging |
Het |
| Klhl24 |
A |
G |
16: 19,925,638 (GRCm39) |
I55M |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,520,104 (GRCm39) |
D2002G |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,950,742 (GRCm39) |
N1015S |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,580,697 (GRCm39) |
C263R |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,159,216 (GRCm39) |
I1689V |
|
Het |
| Mipep |
C |
A |
14: 61,022,284 (GRCm39) |
Q50K |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,257,454 (GRCm39) |
D101G |
probably benign |
Het |
| Nabp2 |
C |
G |
10: 128,244,676 (GRCm39) |
E37Q |
possibly damaging |
Het |
| Nme6 |
A |
G |
9: 109,671,104 (GRCm39) |
I115V |
possibly damaging |
Het |
| Nup93 |
A |
T |
8: 94,970,355 (GRCm39) |
T85S |
probably benign |
Het |
| Oit3 |
T |
A |
10: 59,266,835 (GRCm39) |
I224F |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,975 (GRCm39) |
K331R |
probably benign |
Het |
| Pls1 |
T |
A |
9: 95,643,443 (GRCm39) |
T519S |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,736,118 (GRCm39) |
F197L |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,349,218 (GRCm39) |
T3773I |
|
Het |
| Rprd1b |
A |
T |
2: 157,889,877 (GRCm39) |
I153L |
probably benign |
Het |
| Scel |
A |
G |
14: 103,829,804 (GRCm39) |
D462G |
possibly damaging |
Het |
| Sim1 |
T |
A |
10: 50,860,284 (GRCm39) |
Y715* |
probably null |
Het |
| Slc18a2 |
A |
T |
19: 59,282,293 (GRCm39) |
Q500L |
possibly damaging |
Het |
| Slc5a8 |
T |
G |
10: 88,722,365 (GRCm39) |
M66R |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,055,246 (GRCm39) |
T233A |
probably damaging |
Het |
| Smu1 |
T |
C |
4: 40,739,623 (GRCm39) |
T396A |
probably benign |
Het |
| Tas2r104 |
T |
C |
6: 131,662,521 (GRCm39) |
T63A |
possibly damaging |
Het |
| Tasor2 |
G |
A |
13: 3,624,979 (GRCm39) |
A1657V |
possibly damaging |
Het |
| Top2a |
C |
T |
11: 98,892,199 (GRCm39) |
A1088T |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,020,577 (GRCm39) |
F129S |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,091,298 (GRCm39) |
D41E |
probably benign |
Het |
| Usp10 |
T |
G |
8: 120,681,631 (GRCm39) |
V696G |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,557,066 (GRCm39) |
V745M |
probably damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,373,820 (GRCm39) |
N41K |
probably damaging |
Het |
| Zfp109 |
T |
A |
7: 23,928,779 (GRCm39) |
D218V |
probably benign |
Het |
| Zfp420 |
G |
A |
7: 29,575,430 (GRCm39) |
R550Q |
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 |
|
|
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 |
|
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'- ACACACGTTCTTGGTGCAG -3'
(R):5'- TAGTTTTGCCGCACAGAGC -3'
Sequencing Primer
(F):5'- ATCCGGTGGTGGGAAGC -3'
(R):5'- AGCGGAGTGTTGAGGCTCAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation