Incidental Mutation 'IGL02283:Sh2b3'
ID |
289923 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sh2b3
|
Ensembl Gene |
ENSMUSG00000042594 |
Gene Name |
SH2B adaptor protein 3 |
Synonyms |
Lnk |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.532)
|
Stock # |
IGL02283
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
121953551-121975709 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121956718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 321
(D321G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113926
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040308]
[ENSMUST00000051950]
[ENSMUST00000086310]
[ENSMUST00000118580]
[ENSMUST00000122426]
[ENSMUST00000136960]
[ENSMUST00000197892]
[ENSMUST00000161159]
[ENSMUST00000161064]
[ENSMUST00000160220]
[ENSMUST00000162327]
|
AlphaFold |
O09039 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040308
AA Change: D321G
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000041611 Gene: ENSMUSG00000042594 AA Change: D321G
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
21 |
N/A |
INTRINSIC |
Pfam:Phe_ZIP
|
23 |
76 |
1.1e-20 |
PFAM |
low complexity region
|
114 |
128 |
N/A |
INTRINSIC |
PH
|
168 |
281 |
1.2e-2 |
SMART |
SH2
|
334 |
419 |
3.53e-19 |
SMART |
low complexity region
|
512 |
525 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000051950
|
SMART Domains |
Protein: ENSMUSP00000056715 Gene: ENSMUSG00000042605
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
42 |
N/A |
INTRINSIC |
low complexity region
|
46 |
69 |
N/A |
INTRINSIC |
low complexity region
|
93 |
116 |
N/A |
INTRINSIC |
low complexity region
|
128 |
144 |
N/A |
INTRINSIC |
low complexity region
|
168 |
219 |
N/A |
INTRINSIC |
Pfam:SM-ATX
|
236 |
307 |
6.4e-23 |
PFAM |
LsmAD
|
378 |
446 |
8.57e-25 |
SMART |
low complexity region
|
520 |
540 |
N/A |
INTRINSIC |
low complexity region
|
544 |
576 |
N/A |
INTRINSIC |
low complexity region
|
685 |
705 |
N/A |
INTRINSIC |
low complexity region
|
807 |
838 |
N/A |
INTRINSIC |
low complexity region
|
864 |
879 |
N/A |
INTRINSIC |
Pfam:PAM2
|
880 |
897 |
5.7e-9 |
PFAM |
low complexity region
|
1128 |
1165 |
N/A |
INTRINSIC |
low complexity region
|
1185 |
1196 |
N/A |
INTRINSIC |
low complexity region
|
1245 |
1261 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086310
AA Change: D321G
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000083490 Gene: ENSMUSG00000042594 AA Change: D321G
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
21 |
N/A |
INTRINSIC |
Pfam:Phe_ZIP
|
22 |
77 |
2e-22 |
PFAM |
low complexity region
|
114 |
128 |
N/A |
INTRINSIC |
PH
|
168 |
281 |
1.2e-2 |
SMART |
SH2
|
334 |
419 |
3.53e-19 |
SMART |
low complexity region
|
512 |
525 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118580
|
SMART Domains |
Protein: ENSMUSP00000113808 Gene: ENSMUSG00000042594
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
21 |
N/A |
INTRINSIC |
Pfam:Phe_ZIP
|
22 |
77 |
4.1e-23 |
PFAM |
low complexity region
|
114 |
128 |
N/A |
INTRINSIC |
PH
|
168 |
281 |
1.2e-2 |
SMART |
SH2
|
324 |
409 |
3.53e-19 |
SMART |
low complexity region
|
502 |
515 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122426
AA Change: D321G
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000113926 Gene: ENSMUSG00000042594 AA Change: D321G
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
21 |
N/A |
INTRINSIC |
Pfam:Phe_ZIP
|
22 |
77 |
2e-22 |
PFAM |
low complexity region
|
114 |
128 |
N/A |
INTRINSIC |
PH
|
168 |
281 |
1.2e-2 |
SMART |
SH2
|
334 |
419 |
3.53e-19 |
SMART |
low complexity region
|
512 |
525 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000136960
AA Change: T348A
|
SMART Domains |
Protein: ENSMUSP00000119086 Gene: ENSMUSG00000042594 AA Change: T348A
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
21 |
N/A |
INTRINSIC |
Pfam:Phe_ZIP
|
22 |
77 |
2.4e-23 |
PFAM |
low complexity region
|
114 |
128 |
N/A |
INTRINSIC |
PH
|
168 |
281 |
1.2e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183860
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159928
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197892
|
SMART Domains |
Protein: ENSMUSP00000142666 Gene: ENSMUSG00000042594
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
21 |
N/A |
INTRINSIC |
Pfam:Phe_ZIP
|
22 |
77 |
6.3e-20 |
PFAM |
low complexity region
|
114 |
128 |
N/A |
INTRINSIC |
Blast:PH
|
168 |
250 |
3e-53 |
BLAST |
PDB:1V5M|A
|
171 |
250 |
1e-12 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161159
|
SMART Domains |
Protein: ENSMUSP00000123833 Gene: ENSMUSG00000042605
Domain | Start | End | E-Value | Type |
low complexity region
|
74 |
111 |
N/A |
INTRINSIC |
low complexity region
|
131 |
142 |
N/A |
INTRINSIC |
low complexity region
|
188 |
196 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161064
|
SMART Domains |
Protein: ENSMUSP00000124070 Gene: ENSMUSG00000042605
Domain | Start | End | E-Value | Type |
LsmAD
|
69 |
137 |
8.57e-25 |
SMART |
low complexity region
|
211 |
231 |
N/A |
INTRINSIC |
low complexity region
|
235 |
267 |
N/A |
INTRINSIC |
low complexity region
|
376 |
396 |
N/A |
INTRINSIC |
low complexity region
|
498 |
529 |
N/A |
INTRINSIC |
low complexity region
|
555 |
570 |
N/A |
INTRINSIC |
Pfam:PAM2
|
571 |
588 |
3.5e-9 |
PFAM |
low complexity region
|
801 |
838 |
N/A |
INTRINSIC |
low complexity region
|
858 |
869 |
N/A |
INTRINSIC |
low complexity region
|
915 |
923 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160220
|
SMART Domains |
Protein: ENSMUSP00000124059 Gene: ENSMUSG00000042605
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199864
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162327
|
SMART Domains |
Protein: ENSMUSP00000123784 Gene: ENSMUSG00000042605
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
32 |
N/A |
INTRINSIC |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
Pfam:PAM2
|
74 |
91 |
1.3e-9 |
PFAM |
low complexity region
|
302 |
339 |
N/A |
INTRINSIC |
low complexity region
|
359 |
370 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198161
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the SH2B family of adapter proteins that play an important role in T cell receptor signaling. This gene is preferentially expressed in hematopoietic stem cells, hematopoietic progenitors, pre and immature B cells, as well as megakaryocytes and mastocytes. In hematopoietic stem cells, the encoded protein is a key regulator of self-renewal, proliferation and apoptosis. Mice lacking the encoded protein exhibit pre and immature B cell expansion in spleen and the bone marrow. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe perturbations in hematopoiesis, splenomegaly, and abnormal lymphoid and myeloid homeostasis. Mice homozygous for a different knock-out allele display altered mobility of hematopoietic stem/progenitor cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l2 |
T |
C |
10: 83,331,759 (GRCm39) |
Y682C |
probably benign |
Het |
Ank1 |
G |
A |
8: 23,609,450 (GRCm39) |
|
probably null |
Het |
Arhgap1 |
A |
G |
2: 91,501,121 (GRCm39) |
N399S |
probably damaging |
Het |
Atp8a2 |
A |
T |
14: 60,254,248 (GRCm39) |
I511N |
possibly damaging |
Het |
Birc6 |
T |
A |
17: 74,906,935 (GRCm39) |
C1428S |
probably benign |
Het |
Col18a1 |
T |
C |
10: 76,948,943 (GRCm39) |
T190A |
possibly damaging |
Het |
Cpd |
A |
T |
11: 76,731,251 (GRCm39) |
D318E |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,125,912 (GRCm39) |
V1898E |
probably damaging |
Het |
Gon4l |
T |
C |
3: 88,802,671 (GRCm39) |
M1095T |
probably damaging |
Het |
Gypa |
G |
A |
8: 81,220,721 (GRCm39) |
|
probably benign |
Het |
Irf9 |
G |
A |
14: 55,845,196 (GRCm39) |
R352H |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,365,168 (GRCm39) |
T1633A |
probably benign |
Het |
Mars2 |
T |
C |
1: 55,277,933 (GRCm39) |
V512A |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,778,956 (GRCm39) |
N1571D |
probably benign |
Het |
Myrfl |
T |
C |
10: 116,613,265 (GRCm39) |
D846G |
probably benign |
Het |
Or2ak6 |
A |
T |
11: 58,593,102 (GRCm39) |
T192S |
probably damaging |
Het |
Or2y1b |
A |
G |
11: 49,209,162 (GRCm39) |
D263G |
probably benign |
Het |
Or4d11 |
A |
G |
19: 12,013,219 (GRCm39) |
S296P |
possibly damaging |
Het |
Or7a41 |
T |
C |
10: 78,871,379 (GRCm39) |
S250P |
probably damaging |
Het |
Rprd2 |
A |
T |
3: 95,672,815 (GRCm39) |
S863T |
probably damaging |
Het |
Sdf4 |
T |
A |
4: 156,093,293 (GRCm39) |
N208K |
probably benign |
Het |
Sftpd |
A |
T |
14: 40,894,423 (GRCm39) |
V332D |
probably benign |
Het |
Slc45a2 |
T |
A |
15: 11,001,268 (GRCm39) |
N122K |
probably damaging |
Het |
Slk |
T |
A |
19: 47,630,432 (GRCm39) |
F1170Y |
probably damaging |
Het |
Spata7 |
A |
C |
12: 98,624,517 (GRCm39) |
T140P |
probably damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,694,356 (GRCm39) |
L497S |
probably damaging |
Het |
|
Other mutations in Sh2b3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02328:Sh2b3
|
APN |
5 |
121,955,922 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4449001:Sh2b3
|
UTSW |
5 |
121,966,742 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0164:Sh2b3
|
UTSW |
5 |
121,967,100 (GRCm39) |
missense |
probably damaging |
0.97 |
R0164:Sh2b3
|
UTSW |
5 |
121,967,100 (GRCm39) |
missense |
probably damaging |
0.97 |
R2898:Sh2b3
|
UTSW |
5 |
121,967,111 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
R4374:Sh2b3
|
UTSW |
5 |
121,966,549 (GRCm39) |
unclassified |
probably benign |
|
R4688:Sh2b3
|
UTSW |
5 |
121,956,697 (GRCm39) |
missense |
probably benign |
0.23 |
R4822:Sh2b3
|
UTSW |
5 |
121,966,618 (GRCm39) |
unclassified |
probably benign |
|
R5743:Sh2b3
|
UTSW |
5 |
121,966,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R5888:Sh2b3
|
UTSW |
5 |
121,967,084 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6130:Sh2b3
|
UTSW |
5 |
121,953,626 (GRCm39) |
splice site |
probably null |
|
R6167:Sh2b3
|
UTSW |
5 |
121,966,418 (GRCm39) |
splice site |
probably null |
|
R6413:Sh2b3
|
UTSW |
5 |
121,966,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R7499:Sh2b3
|
UTSW |
5 |
121,956,536 (GRCm39) |
missense |
probably damaging |
0.97 |
R7615:Sh2b3
|
UTSW |
5 |
121,956,763 (GRCm39) |
missense |
probably benign |
0.00 |
R7672:Sh2b3
|
UTSW |
5 |
121,956,822 (GRCm39) |
critical splice donor site |
probably null |
|
R9748:Sh2b3
|
UTSW |
5 |
121,955,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |