Incidental Mutation 'R4374:Sh2b3'
| ID |
470056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh2b3
|
| Ensembl Gene |
ENSMUSG00000042594 |
| Gene Name |
SH2B adaptor protein 3 |
| Synonyms |
Lnk |
| MMRRC Submission |
041118-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.532)
|
| Stock # |
R4374 (G1)
|
| Quality Score |
149 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121953551-121975709 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 121966549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040308]
[ENSMUST00000086310]
[ENSMUST00000118580]
[ENSMUST00000122426]
[ENSMUST00000136960]
[ENSMUST00000137682]
[ENSMUST00000197892]
|
| AlphaFold |
O09039 |
| Predicted Effect |
silent
Transcript: ENSMUST00000040308
|
| SMART Domains |
Protein: ENSMUSP00000041611
Gene: ENSMUSG00000042594
| 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 |
silent
Transcript: ENSMUST00000086310
|
| SMART Domains |
Protein: ENSMUSP00000083490
Gene: ENSMUSG00000042594
| 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 |
silent
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 |
silent
Transcript: ENSMUST00000122426
|
| SMART Domains |
Protein: ENSMUSP00000113926
Gene: ENSMUSG00000042594
| 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 |
silent
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 |
probably benign
Transcript: ENSMUST00000137682
|
| SMART Domains |
Protein: ENSMUSP00000118523
Gene: ENSMUSG00000042594
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
21 |
N/A |
INTRINSIC |
|
Pfam:Phe_ZIP
|
22 |
77 |
2e-23 |
PFAM |
|
low complexity region
|
114 |
128 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
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 |
unknown
Transcript: ENSMUST00000198161
AA Change: A85E
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (38/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
A |
G |
7: 78,973,278 (GRCm39) |
M86V |
probably benign |
Het |
| Acin1 |
C |
A |
14: 54,891,351 (GRCm39) |
|
probably benign |
Het |
| Aebp2 |
T |
A |
6: 140,599,984 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,258,732 (GRCm39) |
E452G |
probably damaging |
Het |
| Amz1 |
T |
C |
5: 140,738,194 (GRCm39) |
S184P |
possibly damaging |
Het |
| Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,875,986 (GRCm39) |
L295* |
probably null |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cpsf7 |
A |
T |
19: 10,517,001 (GRCm39) |
I368F |
probably damaging |
Het |
| Csf1r |
G |
A |
18: 61,252,078 (GRCm39) |
C520Y |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,867,498 (GRCm39) |
D235G |
probably benign |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Fktn |
T |
C |
4: 53,720,201 (GRCm39) |
S72P |
probably damaging |
Het |
| Frem2 |
C |
A |
3: 53,452,923 (GRCm39) |
V2189F |
possibly damaging |
Het |
| Gm10845 |
G |
T |
14: 80,100,563 (GRCm39) |
|
noncoding transcript |
Het |
| Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,111,513 (GRCm39) |
M2255V |
probably benign |
Het |
| Lrsam1 |
G |
T |
2: 32,845,203 (GRCm39) |
T104K |
possibly damaging |
Het |
| Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
| Myo7a |
G |
A |
7: 97,751,881 (GRCm39) |
T54M |
probably damaging |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or5k15 |
A |
C |
16: 58,710,242 (GRCm39) |
C114G |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pfkp |
A |
G |
13: 6,671,025 (GRCm39) |
S135P |
probably damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,476,686 (GRCm39) |
T260I |
possibly damaging |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Ppp6r2 |
T |
G |
15: 89,149,361 (GRCm39) |
C216W |
probably damaging |
Het |
| Pramel7 |
C |
T |
2: 87,320,415 (GRCm39) |
A293T |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,903,137 (GRCm39) |
R177G |
probably damaging |
Het |
| Tbc1d30 |
A |
G |
10: 121,130,617 (GRCm39) |
F271S |
probably damaging |
Het |
| Tpo |
T |
C |
12: 30,153,151 (GRCm39) |
E401G |
possibly damaging |
Het |
| Zdhhc13 |
T |
C |
7: 48,458,589 (GRCm39) |
Y308H |
probably damaging |
Het |
| Zfp112 |
C |
T |
7: 23,825,798 (GRCm39) |
H589Y |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-03-06 |
Incidental Mutation