Incidental Mutation 'R8048:Sh3bp1'
ID |
618897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3bp1
|
Ensembl Gene |
ENSMUSG00000022436 |
Gene Name |
SH3-domain binding protein 1 |
Synonyms |
3BP-1 |
MMRRC Submission |
067485-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R8048 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
78783994-78796247 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 78794272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 547
(A547S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052181
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001226]
[ENSMUST00000061239]
[ENSMUST00000089378]
[ENSMUST00000109698]
[ENSMUST00000132047]
[ENSMUST00000134703]
[ENSMUST00000151146]
|
AlphaFold |
P55194 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001226
AA Change: A547S
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000001226 Gene: ENSMUSG00000022436 AA Change: A547S
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 benign
Transcript: ENSMUST00000061239
AA Change: A547S
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000052181 Gene: ENSMUSG00000022436 AA Change: A547S
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 |
probably benign
Transcript: ENSMUST00000109698
AA Change: A547S
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000105320 Gene: ENSMUSG00000022436 AA Change: A547S
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
AA Change: A547S
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000138598 Gene: ENSMUSG00000022436 AA Change: A547S
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
AA Change: A483S
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
A |
T |
16: 14,228,708 (GRCm39) |
L318F |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,618,316 (GRCm39) |
S2318R |
probably benign |
Het |
Arhgap12 |
G |
A |
18: 6,052,883 (GRCm39) |
T443I |
probably benign |
Het |
Arhgap29 |
C |
T |
3: 121,786,550 (GRCm39) |
R372W |
probably damaging |
Het |
Astn1 |
T |
C |
1: 158,516,208 (GRCm39) |
I1266T |
probably benign |
Het |
Bsg |
T |
C |
10: 79,545,580 (GRCm39) |
V164A |
probably benign |
Het |
C1qa |
G |
T |
4: 136,623,921 (GRCm39) |
S94R |
probably benign |
Het |
Cadps2 |
A |
G |
6: 23,838,862 (GRCm39) |
V92A |
probably benign |
Het |
Ccdc187 |
T |
A |
2: 26,183,526 (GRCm39) |
D158V |
possibly damaging |
Het |
Cngb1 |
T |
A |
8: 95,989,838 (GRCm39) |
Y758F |
possibly damaging |
Het |
Ddx4 |
G |
A |
13: 112,758,706 (GRCm39) |
A285V |
probably null |
Het |
Dsg1c |
A |
T |
18: 20,407,824 (GRCm39) |
K390M |
probably damaging |
Het |
Dst |
T |
C |
1: 34,229,717 (GRCm39) |
F2437L |
probably benign |
Het |
Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
Fam227a |
CATTGTCTTGA |
CA |
15: 79,533,959 (GRCm39) |
|
probably null |
Het |
Fez2 |
T |
C |
17: 78,694,482 (GRCm39) |
I303V |
probably benign |
Het |
Ffar1 |
A |
T |
7: 30,560,003 (GRCm39) |
I298N |
probably benign |
Het |
Hpx |
C |
T |
7: 105,244,685 (GRCm39) |
V228I |
probably benign |
Het |
Igkv1-117 |
T |
G |
6: 68,098,786 (GRCm39) |
C112G |
probably damaging |
Het |
Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
Ivl |
T |
A |
3: 92,479,231 (GRCm39) |
K278M |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,862,230 (GRCm39) |
T2589A |
probably benign |
Het |
Madd |
A |
T |
2: 90,984,793 (GRCm39) |
M1359K |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,600,779 (GRCm39) |
T1283A |
probably benign |
Het |
Ncapd2 |
G |
T |
6: 125,156,661 (GRCm39) |
C439* |
probably null |
Het |
Nebl |
T |
C |
2: 17,429,333 (GRCm39) |
D266G |
probably benign |
Het |
Oas1f |
G |
T |
5: 120,985,602 (GRCm39) |
G49V |
probably damaging |
Het |
Oas1f |
A |
T |
5: 120,986,479 (GRCm39) |
Q144L |
possibly damaging |
Het |
Or11g7 |
T |
C |
14: 50,691,373 (GRCm39) |
L288P |
possibly damaging |
Het |
Or2ab1 |
A |
G |
11: 58,488,233 (GRCm39) |
I6V |
unknown |
Het |
Or2n1 |
T |
C |
17: 38,486,419 (GRCm39) |
V148A |
probably benign |
Het |
Or5an6 |
A |
G |
19: 12,371,719 (GRCm39) |
I31V |
not run |
Het |
Or5j3 |
C |
T |
2: 86,128,672 (GRCm39) |
P171S |
probably benign |
Het |
Or5m3 |
T |
G |
2: 85,838,524 (GRCm39) |
S135A |
probably damaging |
Het |
Or5t18 |
T |
A |
2: 86,636,515 (GRCm39) |
Y276F |
probably damaging |
Het |
Or6b6 |
C |
T |
7: 106,571,671 (GRCm39) |
|
probably benign |
Het |
Or8b52 |
C |
T |
9: 38,577,108 (GRCm39) |
E11K |
probably benign |
Het |
Or8j3c |
T |
A |
2: 86,253,651 (GRCm39) |
Y123F |
probably damaging |
Het |
Pard3b |
T |
A |
1: 62,193,148 (GRCm39) |
V217E |
probably damaging |
Het |
Pcdha2 |
T |
A |
18: 37,072,513 (GRCm39) |
I48N |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,120,991 (GRCm39) |
F1248L |
|
Het |
Plekha2 |
A |
T |
8: 25,554,005 (GRCm39) |
|
probably benign |
Het |
Plpp4 |
C |
T |
7: 128,981,201 (GRCm39) |
R151C |
unknown |
Het |
Pramel14 |
T |
A |
4: 143,718,177 (GRCm39) |
Y422F |
probably benign |
Het |
Prdm16 |
A |
G |
4: 154,405,339 (GRCm39) |
L1245P |
probably damaging |
Het |
Prob1 |
G |
A |
18: 35,786,604 (GRCm39) |
A550V |
probably benign |
Het |
Prok1 |
T |
C |
3: 107,144,408 (GRCm39) |
H65R |
probably benign |
Het |
Ptcd1 |
A |
G |
5: 145,091,887 (GRCm39) |
V404A |
probably benign |
Het |
Sbf2 |
T |
C |
7: 109,914,289 (GRCm39) |
E1631G |
probably benign |
Het |
Sdad1 |
C |
A |
5: 92,447,948 (GRCm39) |
K262N |
probably benign |
Het |
Sptb |
T |
C |
12: 76,675,333 (GRCm39) |
D227G |
probably benign |
Het |
Tbx1 |
A |
G |
16: 18,406,769 (GRCm39) |
M1T |
probably null |
Het |
Tespa1 |
T |
A |
10: 130,183,208 (GRCm39) |
V51D |
probably damaging |
Het |
Tmc7 |
T |
C |
7: 118,165,468 (GRCm39) |
N82S |
probably benign |
Het |
Tmem8b |
A |
G |
4: 43,689,476 (GRCm39) |
D290G |
possibly damaging |
Het |
Trbv13-2 |
A |
T |
6: 41,098,493 (GRCm39) |
T23S |
probably damaging |
Het |
Trib3 |
A |
T |
2: 152,180,553 (GRCm39) |
D213E |
probably damaging |
Het |
Tubgcp4 |
T |
C |
2: 121,013,981 (GRCm39) |
V178A |
probably benign |
Het |
Virma |
T |
A |
4: 11,539,918 (GRCm39) |
C1412* |
probably null |
Het |
Vmn2r108 |
T |
C |
17: 20,691,762 (GRCm39) |
T254A |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,882,137 (GRCm39) |
V1152A |
|
Het |
Wdr47 |
T |
C |
3: 108,526,284 (GRCm39) |
V269A |
probably damaging |
Het |
Zc3h13 |
T |
A |
14: 75,561,977 (GRCm39) |
D676E |
unknown |
Het |
Zc3h6 |
T |
A |
2: 128,858,934 (GRCm39) |
S988R |
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 |
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 |
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'- ACCGACACCTGAAGTATCTAGTC -3'
(R):5'- CCAAGGAATAAGCTGGGTCC -3'
Sequencing Primer
(F):5'- AGGACACACACGTTCTTGGTG -3'
(R):5'- CTGGGTCCAGGTGCCGG -3'
|
Posted On |
2020-01-23 |