Incidental Mutation 'R9057:Sh3bp1'
ID |
688773 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sh3bp1
|
Ensembl Gene |
ENSMUSG00000022436 |
Gene Name |
SH3-domain binding protein 1 |
Synonyms |
3BP-1 |
MMRRC Submission |
068883-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R9057 (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 G
at 78794209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 526
(T526A)
|
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: T526A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000001226 Gene: ENSMUSG00000022436 AA Change: T526A
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: T526A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000052181 Gene: ENSMUSG00000022436 AA Change: T526A
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: T526A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105320 Gene: ENSMUSG00000022436 AA Change: T526A
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: T526A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138598 Gene: ENSMUSG00000022436 AA Change: T526A
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: T462A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aagab |
T |
A |
9: 63,524,782 (GRCm39) |
|
probably benign |
Het |
Abca2 |
G |
A |
2: 25,331,584 (GRCm39) |
D1324N |
probably benign |
Het |
Acat1 |
C |
T |
9: 53,503,300 (GRCm39) |
G180R |
probably damaging |
Het |
AI837181 |
A |
C |
19: 5,476,730 (GRCm39) |
T298P |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,586,814 (GRCm39) |
D556E |
unknown |
Het |
Ankle1 |
T |
A |
8: 71,858,961 (GRCm39) |
W65R |
probably benign |
Het |
Ano5 |
A |
G |
7: 51,203,654 (GRCm39) |
N234S |
probably benign |
Het |
Asb7 |
T |
A |
7: 66,309,395 (GRCm39) |
|
probably benign |
Het |
Atad2b |
T |
A |
12: 5,068,102 (GRCm39) |
C1033* |
probably null |
Het |
B4galnt1 |
A |
G |
10: 127,006,999 (GRCm39) |
D452G |
probably damaging |
Het |
B4gat1 |
G |
T |
19: 5,089,056 (GRCm39) |
A18S |
possibly damaging |
Het |
Bard1 |
A |
G |
1: 71,069,807 (GRCm39) |
Y724H |
probably damaging |
Het |
Bcl9 |
A |
T |
3: 97,112,306 (GRCm39) |
M1383K |
possibly damaging |
Het |
Cenpt |
C |
A |
8: 106,576,405 (GRCm39) |
*43L |
probably null |
Het |
Ces2f |
C |
A |
8: 105,674,744 (GRCm39) |
H49N |
probably benign |
Het |
Col17a1 |
A |
T |
19: 47,637,522 (GRCm39) |
D1245E |
probably damaging |
Het |
Col19a1 |
G |
T |
1: 24,549,962 (GRCm39) |
H312N |
unknown |
Het |
Cyb5d2 |
C |
T |
11: 72,679,924 (GRCm39) |
E124K |
probably benign |
Het |
Dnah5 |
C |
T |
15: 28,391,014 (GRCm39) |
A3291V |
probably damaging |
Het |
Exo5 |
A |
T |
4: 120,779,186 (GRCm39) |
D226E |
probably damaging |
Het |
Ggt6 |
C |
T |
11: 72,328,067 (GRCm39) |
T189M |
probably damaging |
Het |
Gm5592 |
C |
A |
7: 40,938,887 (GRCm39) |
S723Y |
possibly damaging |
Het |
Golga3 |
C |
T |
5: 110,332,465 (GRCm39) |
T133M |
probably damaging |
Het |
Heatr5a |
C |
T |
12: 51,986,420 (GRCm39) |
E598K |
probably damaging |
Het |
Hfe |
T |
A |
13: 23,889,658 (GRCm39) |
I330F |
possibly damaging |
Het |
Htt |
A |
G |
5: 35,009,454 (GRCm39) |
I1478M |
possibly damaging |
Het |
Igf1r |
T |
C |
7: 67,833,186 (GRCm39) |
F449L |
probably damaging |
Het |
Ints4 |
T |
C |
7: 97,158,987 (GRCm39) |
V453A |
possibly damaging |
Het |
Ints6 |
A |
G |
14: 62,951,740 (GRCm39) |
|
probably null |
Het |
Klrh1 |
T |
A |
6: 129,752,803 (GRCm39) |
M1L |
probably benign |
Het |
Kpna4 |
G |
A |
3: 69,002,018 (GRCm39) |
T248M |
probably damaging |
Het |
Lactb |
T |
C |
9: 66,874,977 (GRCm39) |
I372V |
possibly damaging |
Het |
Mib1 |
T |
A |
18: 10,795,728 (GRCm39) |
D696E |
possibly damaging |
Het |
Mpzl3 |
G |
A |
9: 44,979,592 (GRCm39) |
R181Q |
probably damaging |
Het |
Mup12 |
A |
T |
4: 60,696,779 (GRCm39) |
I33N |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,656,011 (GRCm39) |
I502V |
possibly damaging |
Het |
Nacad |
C |
A |
11: 6,550,876 (GRCm39) |
V772F |
possibly damaging |
Het |
Nbeal2 |
G |
T |
9: 110,456,218 (GRCm39) |
T2417N |
probably benign |
Het |
Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
Or2ag17 |
A |
T |
7: 106,389,296 (GRCm39) |
V304D |
probably damaging |
Het |
Or6e1 |
T |
C |
14: 54,520,148 (GRCm39) |
E68G |
probably damaging |
Het |
Pan2 |
A |
T |
10: 128,156,141 (GRCm39) |
H1133L |
probably damaging |
Het |
Pgk2 |
A |
G |
17: 40,518,735 (GRCm39) |
V231A |
possibly damaging |
Het |
Psmd12 |
G |
A |
11: 107,377,328 (GRCm39) |
R129Q |
probably null |
Het |
Rpl23a |
G |
A |
11: 78,072,021 (GRCm39) |
R139C |
probably benign |
Het |
Sars2 |
G |
T |
7: 28,446,246 (GRCm39) |
Q158H |
|
Het |
Scd3 |
C |
T |
19: 44,224,340 (GRCm39) |
P191L |
probably damaging |
Het |
Serac1 |
C |
A |
17: 6,111,890 (GRCm39) |
S262I |
probably damaging |
Het |
Slc26a3 |
A |
T |
12: 31,520,958 (GRCm39) |
T721S |
probably benign |
Het |
Slc8a1 |
A |
C |
17: 81,955,479 (GRCm39) |
S520A |
probably benign |
Het |
Sp9 |
A |
T |
2: 73,103,613 (GRCm39) |
S56C |
probably damaging |
Het |
Spire2 |
T |
A |
8: 124,095,547 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
G |
12: 75,937,167 (GRCm39) |
L255R |
probably damaging |
Het |
Tcp11l1 |
A |
G |
2: 104,528,026 (GRCm39) |
I156T |
probably damaging |
Het |
Tnrc6b |
G |
A |
15: 80,763,349 (GRCm39) |
A284T |
probably benign |
Het |
Trappc14 |
A |
T |
5: 138,260,949 (GRCm39) |
V232E |
probably damaging |
Het |
Tsc1 |
T |
A |
2: 28,575,874 (GRCm39) |
L919H |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,828,209 (GRCm39) |
H1454Q |
probably benign |
Het |
Vps41 |
T |
A |
13: 19,027,702 (GRCm39) |
D537E |
probably benign |
Het |
Wnt16 |
T |
A |
6: 22,288,823 (GRCm39) |
C47S |
probably damaging |
Het |
Zfhx2 |
C |
T |
14: 55,310,027 (GRCm39) |
E840K |
possibly damaging |
Het |
Zfp61 |
A |
T |
7: 23,990,702 (GRCm39) |
V483E |
probably benign |
Het |
Zfp870 |
A |
T |
17: 33,102,793 (GRCm39) |
S179T |
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 |
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 |
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'- CACCTGAAGTATCTAGTCAAGAGAC -3'
(R):5'- CCAAGGAATAAGCTGGGTCC -3'
Sequencing Primer
(F):5'- TCAAGAGACTAAGACCGAGGACAC -3'
(R):5'- GCCCAGAGCTTCTCACTATG -3'
|
Posted On |
2021-11-19 |