Incidental Mutation 'IGL02216:Sh3bp1'
ID |
284905 |
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 # |
IGL02216
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
78783994-78796247 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 78789364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 241
(M241L)
|
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 benign
Transcript: ENSMUST00000001226
AA Change: M305L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000001226 Gene: ENSMUSG00000022436 AA Change: M305L
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: M305L
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000052181 Gene: ENSMUSG00000022436 AA Change: M305L
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: ENSMUST00000109698
AA Change: M305L
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000105320 Gene: ENSMUSG00000022436 AA Change: M305L
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: M305L
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000138598 Gene: ENSMUSG00000022436 AA Change: M305L
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: M241L
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544D05Rik |
T |
C |
11: 70,507,005 (GRCm39) |
F48L |
possibly damaging |
Het |
Adamts12 |
A |
G |
15: 11,241,571 (GRCm39) |
N381S |
possibly damaging |
Het |
Akp3 |
A |
T |
1: 87,055,372 (GRCm39) |
Q473L |
probably damaging |
Het |
Albfm1 |
T |
C |
5: 90,727,438 (GRCm39) |
|
probably benign |
Het |
Ap5s1 |
T |
A |
2: 131,054,887 (GRCm39) |
|
probably benign |
Het |
Atp10b |
T |
A |
11: 43,150,616 (GRCm39) |
L1438Q |
probably damaging |
Het |
B3galt4 |
G |
A |
17: 34,169,539 (GRCm39) |
P233L |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cc2d1a |
C |
A |
8: 84,865,942 (GRCm39) |
E393* |
probably null |
Het |
Cd209a |
G |
T |
8: 3,795,576 (GRCm39) |
T165N |
probably damaging |
Het |
Chid1 |
T |
C |
7: 141,076,506 (GRCm39) |
|
probably benign |
Het |
Cln3 |
A |
T |
7: 126,174,514 (GRCm39) |
|
probably null |
Het |
Cped1 |
A |
T |
6: 22,059,944 (GRCm39) |
R203S |
probably damaging |
Het |
Dele1 |
A |
T |
18: 38,385,913 (GRCm39) |
I102F |
probably damaging |
Het |
Dnttip2 |
G |
T |
3: 122,069,910 (GRCm39) |
W375L |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,629,436 (GRCm39) |
F4280S |
probably damaging |
Het |
Ephb4 |
A |
G |
5: 137,370,332 (GRCm39) |
D844G |
possibly damaging |
Het |
Fhl2 |
T |
A |
1: 43,170,879 (GRCm39) |
E145V |
probably null |
Het |
Gne |
T |
C |
4: 44,044,761 (GRCm39) |
K458E |
probably benign |
Het |
Grid2 |
G |
T |
6: 64,322,650 (GRCm39) |
R550L |
probably damaging |
Het |
Klhl1 |
T |
A |
14: 96,360,658 (GRCm39) |
T731S |
probably benign |
Het |
Kng1 |
T |
A |
16: 22,877,283 (GRCm39) |
D30E |
probably damaging |
Het |
Kyat1 |
A |
G |
2: 30,077,264 (GRCm39) |
V158A |
probably benign |
Het |
Mcm8 |
G |
T |
2: 132,681,449 (GRCm39) |
V642F |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,739,092 (GRCm39) |
H3638Y |
probably benign |
Het |
Neb |
T |
G |
2: 52,116,502 (GRCm39) |
T4158P |
probably benign |
Het |
Neo1 |
T |
C |
9: 58,824,336 (GRCm39) |
I697M |
probably damaging |
Het |
Nfkb1 |
A |
T |
3: 135,300,724 (GRCm39) |
V614D |
probably damaging |
Het |
Or7e169 |
G |
A |
9: 19,757,861 (GRCm39) |
S18L |
probably damaging |
Het |
Otog |
T |
C |
7: 45,950,892 (GRCm39) |
S2555P |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,784,897 (GRCm39) |
R1962S |
probably damaging |
Het |
Plxnb1 |
A |
G |
9: 108,929,918 (GRCm39) |
Y258C |
probably damaging |
Het |
Pramel12 |
T |
A |
4: 143,144,298 (GRCm39) |
|
probably null |
Het |
Prl3a1 |
A |
G |
13: 27,454,127 (GRCm39) |
D35G |
probably benign |
Het |
Rag1 |
A |
T |
2: 101,473,726 (GRCm39) |
V472D |
possibly damaging |
Het |
Rbpj-ps3 |
G |
A |
6: 46,506,641 (GRCm39) |
|
probably benign |
Het |
Rnf112 |
C |
T |
11: 61,340,804 (GRCm39) |
V472M |
probably damaging |
Het |
Rps18 |
A |
G |
17: 34,171,015 (GRCm39) |
|
probably benign |
Het |
Rptn |
T |
C |
3: 93,303,080 (GRCm39) |
S138P |
possibly damaging |
Het |
Sbpl |
A |
C |
17: 24,172,690 (GRCm39) |
N76K |
probably benign |
Het |
Slc22a17 |
T |
C |
14: 55,145,433 (GRCm39) |
*198W |
probably null |
Het |
Smc3 |
C |
T |
19: 53,610,275 (GRCm39) |
R221C |
probably damaging |
Het |
Snai1 |
A |
G |
2: 167,380,768 (GRCm39) |
E87G |
probably benign |
Het |
Snx22 |
C |
A |
9: 65,976,470 (GRCm39) |
A49S |
probably benign |
Het |
Tas2r143 |
A |
T |
6: 42,377,268 (GRCm39) |
R33* |
probably null |
Het |
Try4 |
A |
G |
6: 41,281,965 (GRCm39) |
I184V |
probably benign |
Het |
Ttn |
T |
A |
2: 76,584,896 (GRCm39) |
K20355* |
probably null |
Het |
Ttn |
A |
G |
2: 76,622,069 (GRCm39) |
V15491A |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,948,237 (GRCm39) |
T293A |
probably benign |
Het |
Vmn1r170 |
A |
G |
7: 23,305,915 (GRCm39) |
T106A |
probably damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,661,817 (GRCm39) |
V666E |
probably damaging |
Het |
Vsx1 |
T |
C |
2: 150,526,495 (GRCm39) |
N221S |
possibly damaging |
Het |
Zfp846 |
A |
G |
9: 20,499,905 (GRCm39) |
E45G |
probably damaging |
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 |
|
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 |