Incidental Mutation 'IGL02417:Sh3bp1'
ID |
292508 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.117)
|
Stock # |
IGL02417
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
78783994-78796247 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 78785699 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 4
(R4Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154996
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001226]
[ENSMUST00000061239]
[ENSMUST00000109698]
[ENSMUST00000132047]
[ENSMUST00000134703]
[ENSMUST00000148893]
[ENSMUST00000151146]
|
AlphaFold |
P55194 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001226
AA Change: R68Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000001226 Gene: ENSMUSG00000022436 AA Change: R68Q
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 damaging
Transcript: ENSMUST00000061239
AA Change: R68Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000052181 Gene: ENSMUSG00000022436 AA Change: R68Q
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 damaging
Transcript: ENSMUST00000109698
AA Change: R68Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105320 Gene: ENSMUSG00000022436 AA Change: R68Q
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 damaging
Transcript: ENSMUST00000132047
AA Change: R68Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138598 Gene: ENSMUSG00000022436 AA Change: R68Q
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 damaging
Transcript: ENSMUST00000134703
AA Change: R4Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148893
AA Change: R4Q
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117839 Gene: ENSMUSG00000022436 AA Change: R4Q
Domain | Start | End | E-Value | Type |
Blast:BAR
|
2 |
55 |
1e-5 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151146
AA Change: R68Q
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138780 Gene: ENSMUSG00000022436 AA Change: R68Q
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: ENSMUST00000229492
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231057
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap5 |
T |
A |
12: 52,565,136 (GRCm39) |
N702K |
probably damaging |
Het |
Atm |
T |
C |
9: 53,390,995 (GRCm39) |
T1860A |
probably benign |
Het |
Bicdl1 |
A |
T |
5: 115,811,217 (GRCm39) |
H231Q |
probably damaging |
Het |
C2cd5 |
A |
C |
6: 142,987,218 (GRCm39) |
D470E |
probably damaging |
Het |
Chd5 |
T |
C |
4: 152,451,751 (GRCm39) |
F688L |
probably damaging |
Het |
Cul3 |
T |
C |
1: 80,300,619 (GRCm39) |
Y74C |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,203,429 (GRCm39) |
E1042G |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,020,915 (GRCm39) |
L1966P |
probably damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,386,682 (GRCm39) |
I204N |
possibly damaging |
Het |
Drd2 |
T |
C |
9: 49,313,559 (GRCm39) |
|
probably benign |
Het |
Fasn |
A |
G |
11: 120,711,166 (GRCm39) |
V228A |
probably damaging |
Het |
Fggy |
T |
C |
4: 95,737,846 (GRCm39) |
W148R |
probably benign |
Het |
Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
Gpr89 |
A |
T |
3: 96,804,741 (GRCm39) |
Y38* |
probably null |
Het |
H2-M1 |
G |
A |
17: 36,983,026 (GRCm39) |
H22Y |
possibly damaging |
Het |
Kdm3b |
T |
A |
18: 34,941,630 (GRCm39) |
S574T |
probably benign |
Het |
Kmt2c |
C |
T |
5: 25,578,018 (GRCm39) |
V753I |
probably benign |
Het |
Lcn9 |
T |
C |
2: 25,713,692 (GRCm39) |
F73L |
possibly damaging |
Het |
Lnpep |
T |
C |
17: 17,765,165 (GRCm39) |
T762A |
possibly damaging |
Het |
Lrp2 |
C |
T |
2: 69,291,649 (GRCm39) |
C3510Y |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,456,849 (GRCm39) |
|
probably benign |
Het |
Or14c39 |
A |
G |
7: 86,344,027 (GRCm39) |
Y121C |
probably damaging |
Het |
Or1j18 |
A |
T |
2: 36,624,356 (GRCm39) |
I8F |
probably benign |
Het |
Or5b3 |
A |
G |
19: 13,388,259 (GRCm39) |
T109A |
possibly damaging |
Het |
Pcnx3 |
A |
T |
19: 5,736,509 (GRCm39) |
V176E |
possibly damaging |
Het |
Phlpp1 |
T |
C |
1: 106,320,444 (GRCm39) |
S1480P |
probably benign |
Het |
Ppfia3 |
T |
C |
7: 44,991,141 (GRCm39) |
R1027G |
probably damaging |
Het |
Rnf216 |
A |
G |
5: 143,054,665 (GRCm39) |
Y628H |
possibly damaging |
Het |
Skint9 |
A |
G |
4: 112,271,335 (GRCm39) |
|
probably benign |
Het |
Slc25a51 |
A |
G |
4: 45,400,074 (GRCm39) |
S39P |
probably benign |
Het |
Smarca4 |
C |
T |
9: 21,612,386 (GRCm39) |
R1558C |
probably damaging |
Het |
Spag9 |
A |
G |
11: 94,007,567 (GRCm39) |
S1224G |
probably benign |
Het |
Spdl1 |
G |
T |
11: 34,704,181 (GRCm39) |
Q551K |
probably benign |
Het |
Sugt1 |
A |
G |
14: 79,847,698 (GRCm39) |
I183V |
probably benign |
Het |
Th |
G |
A |
7: 142,453,643 (GRCm39) |
S19L |
probably damaging |
Het |
Tmprss11g |
A |
G |
5: 86,638,750 (GRCm39) |
V246A |
probably benign |
Het |
Tnfaip8l2 |
T |
C |
3: 95,047,714 (GRCm39) |
T50A |
probably benign |
Het |
Tox3 |
G |
T |
8: 90,984,759 (GRCm39) |
T140K |
possibly damaging |
Het |
Unc50 |
T |
A |
1: 37,476,531 (GRCm39) |
Y205* |
probably null |
Het |
Vmn2r83 |
A |
T |
10: 79,314,881 (GRCm39) |
K376N |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |