Incidental Mutation 'R2566:Sh2b1'
| ID |
254469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh2b1
|
| Ensembl Gene |
ENSMUSG00000030733 |
| Gene Name |
SH2B adaptor protein 1 |
| Synonyms |
SH2-Bb, Sh2bpsm1, Irip, SH2-B |
| MMRRC Submission |
040425-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R2566 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126066166-126074596 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126068098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 519
(D519N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032978]
[ENSMUST00000205340]
[ENSMUST00000205440]
[ENSMUST00000205497]
[ENSMUST00000205733]
[ENSMUST00000205889]
[ENSMUST00000206664]
[ENSMUST00000206643]
|
| AlphaFold |
Q91ZM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032978
AA Change: D519N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032978
Gene: ENSMUSG00000030733
AA Change: D519N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phe_ZIP
|
25 |
81 |
4.6e-25 |
PFAM |
|
low complexity region
|
83 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
PH
|
247 |
378 |
4.82e-7 |
SMART |
|
low complexity region
|
447 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
483 |
N/A |
INTRINSIC |
|
SH2
|
525 |
610 |
2.84e-23 |
SMART |
|
low complexity region
|
668 |
677 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205340
AA Change: D519N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205440
AA Change: D519N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205497
AA Change: D519N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205733
AA Change: D519N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205889
AA Change: D519N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206515
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206664
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206643
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice are infertile. Female mice have small, anovulatory ovaries with reduced numbers of follicles and male mice exhibit small testes and sperm deficits. Mice homozygous for a floxed allele activated in the pancreas exhibit impaired glucose homeostasis when fed a high fat diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,055,701 (GRCm39) |
K408E |
probably damaging |
Het |
| 2010315B03Rik |
T |
A |
9: 124,055,783 (GRCm39) |
K380N |
probably damaging |
Het |
| 9230104M06Rik |
C |
T |
12: 112,964,359 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
T |
A |
10: 20,846,810 (GRCm39) |
C413* |
probably null |
Het |
| Alms1 |
T |
A |
6: 85,599,464 (GRCm39) |
M1430K |
possibly damaging |
Het |
| Ankrd52 |
G |
T |
10: 128,225,220 (GRCm39) |
A894S |
probably benign |
Het |
| Arhgap33 |
C |
A |
7: 30,226,654 (GRCm39) |
V494L |
probably damaging |
Het |
| Atic |
G |
T |
1: 71,608,130 (GRCm39) |
V275F |
probably damaging |
Het |
| Atoh1 |
T |
A |
6: 64,706,668 (GRCm39) |
V121E |
probably damaging |
Het |
| Atp5pd |
T |
A |
11: 115,306,864 (GRCm39) |
|
probably null |
Het |
| Baiap2l2 |
A |
T |
15: 79,146,174 (GRCm39) |
|
probably null |
Het |
| Brca2 |
A |
T |
5: 150,465,227 (GRCm39) |
T1664S |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,835,464 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,692,621 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyp2d34 |
A |
G |
15: 82,500,368 (GRCm39) |
F457S |
probably damaging |
Het |
| Disp3 |
T |
A |
4: 148,325,880 (GRCm39) |
T1293S |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,517,970 (GRCm39) |
I1348F |
possibly damaging |
Het |
| Dsp |
A |
T |
13: 38,380,380 (GRCm39) |
H1776L |
probably damaging |
Het |
| Efhd1 |
A |
T |
1: 87,237,477 (GRCm39) |
Q228L |
possibly damaging |
Het |
| Entpd2 |
T |
A |
2: 25,289,295 (GRCm39) |
I259N |
probably benign |
Het |
| Fam149b |
A |
T |
14: 20,425,578 (GRCm39) |
M138L |
probably damaging |
Het |
| Fastkd5 |
T |
C |
2: 130,458,285 (GRCm39) |
K102E |
probably benign |
Het |
| Fzd7 |
C |
A |
1: 59,523,695 (GRCm39) |
T526K |
possibly damaging |
Het |
| G6pd2 |
T |
A |
5: 61,966,330 (GRCm39) |
I35N |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,042,548 (GRCm39) |
M427K |
probably damaging |
Het |
| Gimap4 |
C |
T |
6: 48,667,799 (GRCm39) |
R57C |
probably damaging |
Het |
| Gm11232 |
C |
A |
4: 71,676,022 (GRCm39) |
W41L |
probably benign |
Het |
| Gm15737 |
T |
A |
6: 92,856,701 (GRCm39) |
C43* |
probably null |
Het |
| Gpr180 |
T |
C |
14: 118,377,185 (GRCm39) |
V62A |
probably benign |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Jakmip3 |
A |
T |
7: 138,591,197 (GRCm39) |
E27V |
possibly damaging |
Het |
| Kcnq3 |
T |
C |
15: 65,903,276 (GRCm39) |
T145A |
probably damaging |
Het |
| Krt8 |
A |
G |
15: 101,906,459 (GRCm39) |
M350T |
probably benign |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,492 (GRCm39) |
|
probably benign |
Het |
| Lbr |
G |
T |
1: 181,663,692 (GRCm39) |
D109E |
probably damaging |
Het |
| Ldc1 |
A |
T |
4: 130,103,681 (GRCm39) |
L420Q |
probably benign |
Het |
| Med23 |
A |
G |
10: 24,764,473 (GRCm39) |
H42R |
probably damaging |
Het |
| Mgat5 |
A |
T |
1: 127,234,741 (GRCm39) |
M77L |
probably benign |
Het |
| Mlf1 |
A |
T |
3: 67,291,919 (GRCm39) |
N28I |
possibly damaging |
Het |
| Mroh3 |
A |
C |
1: 136,125,864 (GRCm39) |
L343R |
probably damaging |
Het |
| Mrpl37 |
T |
A |
4: 106,921,690 (GRCm39) |
I180F |
possibly damaging |
Het |
| Mrps27 |
T |
A |
13: 99,536,836 (GRCm39) |
C116* |
probably null |
Het |
| Muc6 |
A |
G |
7: 141,226,651 (GRCm39) |
S1354P |
possibly damaging |
Het |
| Myh7 |
A |
T |
14: 55,220,699 (GRCm39) |
D1033E |
probably damaging |
Het |
| Myo16 |
A |
T |
8: 10,644,820 (GRCm39) |
E1717D |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,462,539 (GRCm39) |
|
probably null |
Het |
| Or51ag1 |
A |
G |
7: 103,155,367 (GRCm39) |
M262T |
probably benign |
Het |
| Or6c217 |
A |
C |
10: 129,737,964 (GRCm39) |
L205R |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,149,766 (GRCm39) |
L576P |
probably damaging |
Het |
| Parp8 |
A |
G |
13: 117,032,223 (GRCm39) |
S278P |
possibly damaging |
Het |
| Pdk2 |
A |
G |
11: 94,918,028 (GRCm39) |
|
probably null |
Het |
| Phf1 |
T |
C |
17: 27,156,062 (GRCm39) |
S450P |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,746,233 (GRCm39) |
Y1919C |
probably damaging |
Het |
| Postn |
T |
A |
3: 54,284,374 (GRCm39) |
S614T |
probably damaging |
Het |
| Psmg1 |
A |
T |
16: 95,783,395 (GRCm39) |
Y213* |
probably null |
Het |
| Rab11b |
T |
A |
17: 33,966,692 (GRCm39) |
T203S |
probably benign |
Het |
| Rad54l2 |
T |
A |
9: 106,580,825 (GRCm39) |
T899S |
possibly damaging |
Het |
| Ramp2 |
TTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
11: 101,137,371 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,578,537 (GRCm39) |
T1028A |
possibly damaging |
Het |
| Rbm6 |
A |
G |
9: 107,669,197 (GRCm39) |
S58P |
possibly damaging |
Het |
| Rreb1 |
G |
T |
13: 38,113,768 (GRCm39) |
A376S |
possibly damaging |
Het |
| Rsbn1l |
T |
A |
5: 21,124,767 (GRCm39) |
N345I |
probably benign |
Het |
| Sf3b2 |
A |
T |
19: 5,325,118 (GRCm39) |
S785T |
possibly damaging |
Het |
| Slitrk6 |
T |
C |
14: 110,987,704 (GRCm39) |
T668A |
probably benign |
Het |
| Stkld1 |
T |
A |
2: 26,840,650 (GRCm39) |
I444N |
probably damaging |
Het |
| Sucla2 |
A |
T |
14: 73,790,244 (GRCm39) |
|
probably benign |
Het |
| Tmem67 |
T |
A |
4: 12,079,918 (GRCm39) |
L190F |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trem2 |
G |
A |
17: 48,658,863 (GRCm39) |
W191* |
probably null |
Het |
| Ube2d4 |
A |
T |
15: 58,718,528 (GRCm39) |
|
noncoding transcript |
Het |
| Uimc1 |
G |
T |
13: 55,223,617 (GRCm39) |
D218E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,973,424 (GRCm39) |
V95E |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,310,203 (GRCm39) |
V862A |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,008,522 (GRCm39) |
S163T |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,674,553 (GRCm39) |
D76G |
unknown |
Het |
|
| Other mutations in Sh2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02096:Sh2b1
|
APN |
7 |
126,068,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02320:Sh2b1
|
APN |
7 |
126,068,341 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02589:Sh2b1
|
APN |
7 |
126,068,440 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02668:Sh2b1
|
APN |
7 |
126,071,646 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL03189:Sh2b1
|
APN |
7 |
126,067,702 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0130:Sh2b1
|
UTSW |
7 |
126,070,620 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0532:Sh2b1
|
UTSW |
7 |
126,071,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2081:Sh2b1
|
UTSW |
7 |
126,071,862 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2109:Sh2b1
|
UTSW |
7 |
126,071,536 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2409:Sh2b1
|
UTSW |
7 |
126,070,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3752:Sh2b1
|
UTSW |
7 |
126,067,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Sh2b1
|
UTSW |
7 |
126,070,618 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4970:Sh2b1
|
UTSW |
7 |
126,067,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Sh2b1
|
UTSW |
7 |
126,070,408 (GRCm39) |
missense |
probably benign |
|
|
R5912:Sh2b1
|
UTSW |
7 |
126,070,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7368:Sh2b1
|
UTSW |
7 |
126,067,685 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7694:Sh2b1
|
UTSW |
7 |
126,066,929 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7801:Sh2b1
|
UTSW |
7 |
126,070,464 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8005:Sh2b1
|
UTSW |
7 |
126,068,479 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8353:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8356:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8453:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8456:Sh2b1
|
UTSW |
7 |
126,066,772 (GRCm39) |
nonsense |
probably null |
|
|
R8456:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8683:Sh2b1
|
UTSW |
7 |
126,066,743 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8906:Sh2b1
|
UTSW |
7 |
126,070,292 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8921:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8922:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9000:Sh2b1
|
UTSW |
7 |
126,066,743 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9000:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9269:Sh2b1
|
UTSW |
7 |
126,068,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9284:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9285:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9286:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9287:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9398:Sh2b1
|
UTSW |
7 |
126,066,746 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9398:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9398:Sh2b1
|
UTSW |
7 |
126,066,756 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9399:Sh2b1
|
UTSW |
7 |
126,066,750 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9399:Sh2b1
|
UTSW |
7 |
126,066,744 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9399:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9399:Sh2b1
|
UTSW |
7 |
126,066,762 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9403:Sh2b1
|
UTSW |
7 |
126,066,747 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9403:Sh2b1
|
UTSW |
7 |
126,066,745 (GRCm39) |
nonsense |
probably null |
|
|
R9403:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9404:Sh2b1
|
UTSW |
7 |
126,066,771 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9404:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9467:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9467:Sh2b1
|
UTSW |
7 |
126,066,754 (GRCm39) |
nonsense |
probably null |
|
|
R9482:Sh2b1
|
UTSW |
7 |
126,066,768 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9495:Sh2b1
|
UTSW |
7 |
126,066,744 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9507:Sh2b1
|
UTSW |
7 |
126,066,760 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9514:Sh2b1
|
UTSW |
7 |
126,066,765 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9514:Sh2b1
|
UTSW |
7 |
126,066,750 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9514:Sh2b1
|
UTSW |
7 |
126,066,770 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9624:Sh2b1
|
UTSW |
7 |
126,066,744 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9624:Sh2b1
|
UTSW |
7 |
126,066,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9624:Sh2b1
|
UTSW |
7 |
126,066,750 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Z1176:Sh2b1
|
UTSW |
7 |
126,066,903 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1177:Sh2b1
|
UTSW |
7 |
126,070,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCCCAGATTCTCCTTCAGGG -3'
(R):5'- CCACAGGTATTGGGTGCATG -3'
Sequencing Primer
(F):5'- TTCAGGGCCACTCACCTTGG -3'
(R):5'- ACAGGTATTGGGTGCATGTGTATTTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation