Incidental Mutation 'IGL00236:Sh3bp5'
ID |
2153 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sh3bp5
|
Ensembl Gene |
ENSMUSG00000021892 |
Gene Name |
SH3-domain binding protein 5 (BTK-associated) |
Synonyms |
Sab |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.228)
|
Stock # |
IGL00236
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
31094571-31158056 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 31101347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 212
(K212*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091903]
[ENSMUST00000100730]
[ENSMUST00000140002]
|
AlphaFold |
Q9Z131 |
Predicted Effect |
probably null
Transcript: ENSMUST00000091903
AA Change: K212*
|
SMART Domains |
Protein: ENSMUSP00000089517 Gene: ENSMUSG00000021892 AA Change: K212*
Domain | Start | End | E-Value | Type |
Pfam:SH3BP5
|
42 |
272 |
2.2e-99 |
PFAM |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
low complexity region
|
407 |
428 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000100730
AA Change: K210*
|
SMART Domains |
Protein: ENSMUSP00000098296 Gene: ENSMUSG00000021892 AA Change: K210*
Domain | Start | End | E-Value | Type |
Pfam:SH3BP5
|
60 |
274 |
5.5e-95 |
PFAM |
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
low complexity region
|
405 |
426 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000140002
AA Change: K212*
|
SMART Domains |
Protein: ENSMUSP00000117152 Gene: ENSMUSG00000021892 AA Change: K212*
Domain | Start | End | E-Value | Type |
Pfam:SH3BP5
|
42 |
272 |
2.3e-99 |
PFAM |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
low complexity region
|
407 |
428 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147586
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh1 |
A |
G |
12: 87,490,467 (GRCm39) |
V43A |
probably damaging |
Het |
Ankrd17 |
A |
T |
5: 90,381,787 (GRCm39) |
S2460T |
probably damaging |
Het |
Ap4e1 |
T |
C |
2: 126,870,201 (GRCm39) |
L176P |
probably damaging |
Het |
Caprin2 |
A |
G |
6: 148,744,569 (GRCm39) |
I952T |
probably damaging |
Het |
Cdkl4 |
A |
T |
17: 80,832,705 (GRCm39) |
|
probably benign |
Het |
Cfap44 |
T |
C |
16: 44,227,767 (GRCm39) |
L156P |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,905,880 (GRCm39) |
L90S |
probably benign |
Het |
Efhb |
T |
C |
17: 53,769,481 (GRCm39) |
D276G |
probably damaging |
Het |
Ep300 |
A |
G |
15: 81,525,619 (GRCm39) |
D1481G |
unknown |
Het |
Fam83b |
T |
C |
9: 76,398,260 (GRCm39) |
I948V |
probably benign |
Het |
Fbxl5 |
G |
T |
5: 43,922,678 (GRCm39) |
H247N |
probably damaging |
Het |
Fn1 |
A |
G |
1: 71,692,032 (GRCm39) |
I37T |
probably benign |
Het |
Hfe |
C |
T |
13: 23,889,835 (GRCm39) |
|
probably benign |
Het |
Ighv1-36 |
A |
T |
12: 114,843,770 (GRCm39) |
L29Q |
possibly damaging |
Het |
Inpp5e |
G |
T |
2: 26,298,533 (GRCm39) |
Q23K |
probably benign |
Het |
L3mbtl1 |
T |
C |
2: 162,808,983 (GRCm39) |
S619P |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,174,644 (GRCm39) |
I253T |
probably damaging |
Het |
Ntrk1 |
C |
T |
3: 87,698,745 (GRCm39) |
V99M |
possibly damaging |
Het |
Or51s1 |
T |
C |
7: 102,558,479 (GRCm39) |
H189R |
probably damaging |
Het |
Or5b124 |
A |
T |
19: 13,610,903 (GRCm39) |
I143F |
probably benign |
Het |
Pard6a |
T |
C |
8: 106,429,446 (GRCm39) |
S135P |
probably damaging |
Het |
Prss43 |
G |
T |
9: 110,658,538 (GRCm39) |
Q279H |
probably benign |
Het |
Ptcd2 |
T |
C |
13: 99,466,573 (GRCm39) |
N207D |
probably benign |
Het |
Ros1 |
T |
C |
10: 52,070,986 (GRCm39) |
I23V |
probably benign |
Het |
Scg5 |
A |
G |
2: 113,657,915 (GRCm39) |
|
probably benign |
Het |
Slc25a30 |
C |
T |
14: 76,004,365 (GRCm39) |
G244D |
possibly damaging |
Het |
Slc38a10 |
T |
C |
11: 119,997,428 (GRCm39) |
R689G |
probably damaging |
Het |
Spatc1 |
A |
G |
15: 76,168,994 (GRCm39) |
D321G |
probably damaging |
Het |
Stat4 |
A |
T |
1: 52,142,037 (GRCm39) |
Y628F |
probably damaging |
Het |
Wdr35 |
G |
A |
12: 9,069,900 (GRCm39) |
V813I |
probably benign |
Het |
|
Other mutations in Sh3bp5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02828:Sh3bp5
|
APN |
14 |
31,156,106 (GRCm39) |
splice site |
probably benign |
|
R1925:Sh3bp5
|
UTSW |
14 |
31,157,880 (GRCm39) |
missense |
probably benign |
|
R2511:Sh3bp5
|
UTSW |
14 |
31,133,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R4798:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R4799:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5303:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5306:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5307:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5308:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5400:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5401:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5402:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5421:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5422:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5496:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5498:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5500:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5687:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5688:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5724:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5762:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5765:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5862:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5938:Sh3bp5
|
UTSW |
14 |
31,109,791 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5940:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R5941:Sh3bp5
|
UTSW |
14 |
31,099,452 (GRCm39) |
missense |
probably benign |
0.06 |
R6516:Sh3bp5
|
UTSW |
14 |
31,097,629 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6935:Sh3bp5
|
UTSW |
14 |
31,101,473 (GRCm39) |
missense |
probably damaging |
0.96 |
R7309:Sh3bp5
|
UTSW |
14 |
31,100,246 (GRCm39) |
missense |
probably benign |
0.21 |
R8196:Sh3bp5
|
UTSW |
14 |
31,139,399 (GRCm39) |
missense |
probably benign |
0.21 |
R8224:Sh3bp5
|
UTSW |
14 |
31,099,473 (GRCm39) |
missense |
probably damaging |
0.97 |
R8535:Sh3bp5
|
UTSW |
14 |
31,139,375 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2011-12-09 |