Incidental Mutation 'IGL02328:Sh2b3'
| ID |
288574 |
| 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 # |
IGL02328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121953551-121975709 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121955922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 520
(D520G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040308]
[ENSMUST00000051950]
[ENSMUST00000086310]
[ENSMUST00000118580]
[ENSMUST00000122426]
[ENSMUST00000136960]
[ENSMUST00000160462]
[ENSMUST00000160220]
[ENSMUST00000197892]
[ENSMUST00000161159]
[ENSMUST00000161064]
[ENSMUST00000162327]
|
| AlphaFold |
O09039 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040308
AA Change: D520G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041611
Gene: ENSMUSG00000042594
AA Change: D520G
| 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: D520G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000083490
Gene: ENSMUSG00000042594
AA Change: D520G
| 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
AA Change: D510G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113808
Gene: ENSMUSG00000042594
AA Change: D510G
| 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: D520G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113926
Gene: ENSMUSG00000042594
AA Change: D520G
| 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: ENSMUST00000136960
|
| SMART Domains |
Protein: ENSMUSP00000119086
Gene: ENSMUSG00000042594
| 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: ENSMUST00000159928
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183860
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160462
|
| SMART Domains |
Protein: ENSMUSP00000124092
Gene: ENSMUSG00000042605
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199864
|
| 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: 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: 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,726,294 (GRCm39) |
N577I |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
| Btk |
G |
A |
X: 133,459,449 (GRCm39) |
P192L |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,589,348 (GRCm39) |
Y1069F |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,564,096 (GRCm39) |
|
probably null |
Het |
| E230025N22Rik |
A |
G |
18: 36,828,667 (GRCm39) |
S4P |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,696,827 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,840,032 (GRCm39) |
L86P |
probably damaging |
Het |
| Gm3127 |
A |
T |
14: 15,424,989 (GRCm39) |
R42W |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,803,219 (GRCm39) |
Y377C |
probably damaging |
Het |
| Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
| Iqcg |
T |
G |
16: 32,839,876 (GRCm39) |
I357L |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,612,295 (GRCm39) |
L204P |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,152,594 (GRCm39) |
N311S |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,832 (GRCm39) |
D269G |
probably benign |
Het |
| Med16 |
A |
G |
10: 79,743,376 (GRCm39) |
S29P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,518,920 (GRCm39) |
S412P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,417,433 (GRCm39) |
I3443V |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,297,877 (GRCm39) |
L720I |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| Or4z4 |
T |
A |
19: 12,076,146 (GRCm39) |
I286F |
probably damaging |
Het |
| Or52ab4 |
A |
T |
7: 102,987,497 (GRCm39) |
I79F |
probably damaging |
Het |
| Or6c213 |
T |
C |
10: 129,573,895 (GRCm39) |
D297G |
probably benign |
Het |
| Or8b1b |
A |
T |
9: 38,375,972 (GRCm39) |
I212F |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
| Pitpnm2 |
T |
C |
5: 124,259,477 (GRCm39) |
Q1286R |
probably damaging |
Het |
| Scgb2b24 |
A |
G |
7: 33,438,050 (GRCm39) |
|
probably benign |
Het |
| Skint4 |
T |
A |
4: 111,977,255 (GRCm39) |
I215N |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,922,559 (GRCm39) |
D107G |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,387,646 (GRCm39) |
I549T |
probably damaging |
Het |
| Stambp |
A |
G |
6: 83,533,363 (GRCm39) |
L300P |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
| Tm9sf2 |
T |
G |
14: 122,380,842 (GRCm39) |
V145G |
possibly damaging |
Het |
| Tor1aip2 |
G |
T |
1: 155,940,720 (GRCm39) |
C342F |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,206,233 (GRCm39) |
T4823M |
probably damaging |
Het |
| Vmn1r80 |
G |
T |
7: 11,927,405 (GRCm39) |
A172S |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,898 (GRCm39) |
N447Y |
probably benign |
Het |
| Zbtb1 |
A |
G |
12: 76,433,450 (GRCm39) |
N479D |
possibly damaging |
Het |
|
| Other mutations in Sh2b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02283:Sh2b3
|
APN |
5 |
121,956,718 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
Incidental Mutation