Incidental Mutation 'IGL02112:Sh3bp1'
ID |
280224 |
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: 0.133)
|
Stock # |
IGL02112
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
78783994-78796247 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 78790084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154996
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001226]
[ENSMUST00000001226]
[ENSMUST00000001226]
[ENSMUST00000061239]
[ENSMUST00000061239]
[ENSMUST00000061239]
[ENSMUST00000109698]
[ENSMUST00000109698]
[ENSMUST00000109698]
[ENSMUST00000132047]
[ENSMUST00000134703]
[ENSMUST00000148893]
[ENSMUST00000151146]
|
AlphaFold |
P55194 |
Predicted Effect |
probably null
Transcript: ENSMUST00000001226
|
SMART Domains |
Protein: ENSMUSP00000001226 Gene: ENSMUSG00000022436
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 null
Transcript: ENSMUST00000001226
|
SMART Domains |
Protein: ENSMUSP00000001226 Gene: ENSMUSG00000022436
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 null
Transcript: ENSMUST00000001226
|
SMART Domains |
Protein: ENSMUSP00000001226 Gene: ENSMUSG00000022436
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 null
Transcript: ENSMUST00000061239
|
SMART Domains |
Protein: ENSMUSP00000052181 Gene: ENSMUSG00000022436
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 null
Transcript: ENSMUST00000061239
|
SMART Domains |
Protein: ENSMUSP00000052181 Gene: ENSMUSG00000022436
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 null
Transcript: ENSMUST00000061239
|
SMART Domains |
Protein: ENSMUSP00000052181 Gene: ENSMUSG00000022436
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 null
Transcript: ENSMUST00000109698
|
SMART Domains |
Protein: ENSMUSP00000105320 Gene: ENSMUSG00000022436
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 null
Transcript: ENSMUST00000109698
|
SMART Domains |
Protein: ENSMUSP00000105320 Gene: ENSMUSG00000022436
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 null
Transcript: ENSMUST00000109698
|
SMART Domains |
Protein: ENSMUSP00000105320 Gene: ENSMUSG00000022436
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
|
SMART Domains |
Protein: ENSMUSP00000138598 Gene: ENSMUSG00000022436
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 null
Transcript: ENSMUST00000134703
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148893
|
SMART Domains |
Protein: ENSMUSP00000117839 Gene: ENSMUSG00000022436
Domain | Start | End | E-Value | Type |
Blast:BAR
|
2 |
55 |
1e-5 |
BLAST |
|
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: ENSMUST00000229803
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231057
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229492
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
A |
8: 44,104,175 (GRCm39) |
Y490F |
possibly damaging |
Het |
Appbp2 |
A |
T |
11: 85,092,446 (GRCm39) |
H271Q |
probably benign |
Het |
Arhgap17 |
A |
T |
7: 122,917,640 (GRCm39) |
D181E |
possibly damaging |
Het |
Arhgap25 |
T |
A |
6: 87,444,919 (GRCm39) |
Y286F |
possibly damaging |
Het |
Atf2 |
T |
C |
2: 73,649,381 (GRCm39) |
K352R |
probably damaging |
Het |
Bdp1 |
G |
A |
13: 100,174,308 (GRCm39) |
T2076I |
probably benign |
Het |
C1s2 |
A |
G |
6: 124,602,267 (GRCm39) |
V642A |
probably benign |
Het |
Cldn18 |
T |
A |
9: 99,580,128 (GRCm39) |
T170S |
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,620,853 (GRCm39) |
H977Q |
probably benign |
Het |
Col15a1 |
T |
A |
4: 47,253,985 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,131,719 (GRCm39) |
Y1669N |
probably benign |
Het |
Csmd3 |
A |
C |
15: 48,177,265 (GRCm39) |
S424R |
possibly damaging |
Het |
Cyp4a31 |
A |
G |
4: 115,428,180 (GRCm39) |
D306G |
probably damaging |
Het |
E2f2 |
A |
G |
4: 135,920,145 (GRCm39) |
T377A |
probably benign |
Het |
Edil3 |
A |
G |
13: 89,328,374 (GRCm39) |
D276G |
probably damaging |
Het |
Ei24 |
A |
T |
9: 36,693,638 (GRCm39) |
Y305N |
probably damaging |
Het |
Erbin |
T |
C |
13: 103,998,844 (GRCm39) |
N181D |
probably benign |
Het |
Gli3 |
A |
G |
13: 15,837,099 (GRCm39) |
Q494R |
probably damaging |
Het |
Gm16519 |
T |
C |
17: 71,236,291 (GRCm39) |
I80T |
probably damaging |
Het |
Haus8 |
T |
A |
8: 71,708,205 (GRCm39) |
E163V |
probably damaging |
Het |
Hephl1 |
G |
T |
9: 14,993,111 (GRCm39) |
|
probably benign |
Het |
Hnrnph3 |
A |
G |
10: 62,852,184 (GRCm39) |
|
probably null |
Het |
Liat1 |
G |
T |
11: 75,894,214 (GRCm39) |
C197F |
probably benign |
Het |
Mast2 |
A |
T |
4: 116,176,961 (GRCm39) |
C437S |
probably damaging |
Het |
Mef2a |
A |
C |
7: 66,914,620 (GRCm39) |
S91R |
probably damaging |
Het |
Mfge8 |
A |
T |
7: 78,793,088 (GRCm39) |
V126D |
probably benign |
Het |
Nrdc |
A |
G |
4: 108,884,629 (GRCm39) |
|
probably benign |
Het |
Or7d10 |
T |
A |
9: 19,831,821 (GRCm39) |
N105K |
possibly damaging |
Het |
Panx2 |
A |
G |
15: 88,953,772 (GRCm39) |
T576A |
probably benign |
Het |
Per3 |
T |
C |
4: 151,113,640 (GRCm39) |
Y306C |
probably benign |
Het |
Ppm1h |
G |
A |
10: 122,638,305 (GRCm39) |
G192R |
possibly damaging |
Het |
Prss22 |
T |
C |
17: 24,212,945 (GRCm39) |
E264G |
probably damaging |
Het |
Rasa3 |
A |
G |
8: 13,635,042 (GRCm39) |
|
probably benign |
Het |
Rpl7a-ps8 |
C |
A |
7: 19,687,985 (GRCm39) |
|
probably benign |
Het |
Rundc1 |
A |
G |
11: 101,324,425 (GRCm39) |
D377G |
probably benign |
Het |
Sobp |
A |
G |
10: 42,897,873 (GRCm39) |
S571P |
probably benign |
Het |
Styxl2 |
C |
A |
1: 165,927,240 (GRCm39) |
E791* |
probably null |
Het |
Syce1 |
C |
A |
7: 140,359,545 (GRCm39) |
M114I |
probably benign |
Het |
Tdrd6 |
G |
A |
17: 43,940,242 (GRCm39) |
R269W |
probably damaging |
Het |
Tmprss13 |
T |
C |
9: 45,250,702 (GRCm39) |
S408P |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,517,602 (GRCm39) |
T706A |
probably benign |
Het |
Tpcn2 |
A |
G |
7: 144,810,529 (GRCm39) |
S603P |
probably benign |
Het |
Trmt12 |
A |
T |
15: 58,744,665 (GRCm39) |
Q21L |
probably damaging |
Het |
Vmn1r68 |
C |
T |
7: 10,261,787 (GRCm39) |
G104S |
probably damaging |
Het |
Vmn2r82 |
T |
C |
10: 79,231,833 (GRCm39) |
W611R |
probably benign |
Het |
Vmn2r90 |
C |
A |
17: 17,932,465 (GRCm39) |
T124K |
probably damaging |
Het |
Vmn2r99 |
A |
G |
17: 19,600,494 (GRCm39) |
E506G |
probably null |
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 |
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 |
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 |