Incidental Mutation 'R8436:Irs1'
| ID |
653977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irs1
|
| Ensembl Gene |
ENSMUSG00000055980 |
| Gene Name |
insulin receptor substrate 1 |
| Synonyms |
G972R, IRS-1 |
| MMRRC Submission |
067777-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.647)
|
| Stock # |
R8436 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
82233101-82291416 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82290249 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 82
(H82R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069799]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069799
AA Change: H82R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: H82R
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
13 |
117 |
8.13e-14 |
SMART |
|
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
|
IRS
|
155 |
257 |
1.19e-35 |
SMART |
|
PTBI
|
155 |
257 |
7.8e-60 |
SMART |
|
low complexity region
|
263 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1040 |
N/A |
INTRINSIC |
|
low complexity region
|
1051 |
1062 |
N/A |
INTRINSIC |
|
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1200 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit 50 percent reductions in body weights at birth and at 4 months of age, impaired glucose tolerance, and mild insulin and IGF-1 resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 82,065,735 (GRCm38) |
I1278V |
possibly damaging |
Het |
| Baz1b |
A |
G |
5: 135,237,967 (GRCm38) |
H1210R |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 122,569,331 (GRCm38) |
S128L |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,964,536 (GRCm38) |
N1603K |
unknown |
Het |
| Cfap99 |
A |
G |
5: 34,311,682 (GRCm38) |
N300S |
possibly damaging |
Het |
| Chrdl2 |
G |
A |
7: 100,027,733 (GRCm38) |
|
probably null |
Het |
| Cpb2 |
C |
A |
14: 75,272,575 (GRCm38) |
F258L |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 48,004,822 (GRCm38) |
D767E |
probably damaging |
Het |
| Dennd3 |
C |
T |
15: 73,562,349 (GRCm38) |
T956I |
probably damaging |
Het |
| E430018J23Rik |
C |
T |
7: 127,393,324 (GRCm38) |
C38Y |
probably null |
Het |
| Emcn |
A |
G |
3: 137,423,467 (GRCm38) |
T245A |
possibly damaging |
Het |
| Gm4353 |
A |
G |
7: 116,083,629 (GRCm38) |
V239A |
probably damaging |
Het |
| Gm4884 |
G |
A |
7: 41,043,386 (GRCm38) |
A260T |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,308,358 (GRCm38) |
D205G |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,343,147 (GRCm38) |
S3005G |
probably benign |
Het |
| Ifngr1 |
T |
C |
10: 19,603,805 (GRCm38) |
L148P |
probably damaging |
Het |
| Irf2 |
C |
T |
8: 46,818,894 (GRCm38) |
T172M |
probably damaging |
Het |
| Kcnc4 |
G |
T |
3: 107,458,768 (GRCm38) |
N41K |
probably damaging |
Het |
| Lig3 |
C |
T |
11: 82,792,044 (GRCm38) |
A490V |
possibly damaging |
Het |
| Megf6 |
G |
A |
4: 154,265,192 (GRCm38) |
E946K |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,544,917 (GRCm38) |
Y359N |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,458,883 (GRCm38) |
S1365G |
probably damaging |
Het |
| P3h3 |
C |
A |
6: 124,851,078 (GRCm38) |
|
probably null |
Het |
| Pdk2 |
A |
T |
11: 95,039,433 (GRCm38) |
V59D |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,755,888 (GRCm38) |
K168R |
probably benign |
Het |
| Prg4 |
G |
T |
1: 150,455,567 (GRCm38) |
P452T |
unknown |
Het |
| Prl2b1 |
T |
C |
13: 27,383,459 (GRCm38) |
N234S |
possibly damaging |
Het |
| Rnd1 |
T |
A |
15: 98,676,574 (GRCm38) |
T41S |
possibly damaging |
Het |
| Sall4 |
G |
A |
2: 168,755,910 (GRCm38) |
P337S |
probably damaging |
Het |
| Slc1a2 |
G |
A |
2: 102,755,953 (GRCm38) |
A301T |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,206,474 (GRCm38) |
R99W |
possibly damaging |
Het |
| Svep1 |
G |
A |
4: 58,044,053 (GRCm38) |
T3531I |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 178,362,968 (GRCm38) |
D894G |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,228,659 (GRCm38) |
N4605S |
probably benign |
Het |
| Syt4 |
A |
C |
18: 31,440,419 (GRCm38) |
C348G |
possibly damaging |
Het |
| Tceanc2 |
G |
A |
4: 107,177,581 (GRCm38) |
T28M |
probably damaging |
Het |
| Tmco1 |
A |
G |
1: 167,308,685 (GRCm38) |
D5G |
|
Het |
| Tnfsf12 |
T |
C |
11: 69,686,887 (GRCm38) |
K235E |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,391,382 (GRCm38) |
S2396P |
possibly damaging |
Het |
| Vipas39 |
T |
A |
12: 87,257,417 (GRCm38) |
D125V |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 13,102,844 (GRCm38) |
F35S |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,363,783 (GRCm38) |
N619D |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,740,793 (GRCm38) |
V521A |
probably benign |
Het |
| Wdr20rt |
T |
A |
12: 65,226,261 (GRCm38) |
L166Q |
probably damaging |
Het |
| Zbtb11 |
T |
A |
16: 56,000,659 (GRCm38) |
C706* |
probably null |
Het |
| Zscan21 |
A |
T |
5: 138,117,916 (GRCm38) |
Y30F |
unknown |
Het |
|
| Other mutations in Irs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Irs1
|
APN |
1 |
82,288,483 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00534:Irs1
|
APN |
1 |
82,288,471 (GRCm38) |
missense |
probably benign |
|
|
IGL01926:Irs1
|
APN |
1 |
82,289,959 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02130:Irs1
|
APN |
1 |
82,289,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03338:Irs1
|
APN |
1 |
82,288,401 (GRCm38) |
missense |
probably benign |
0.05 |
|
Hoverboard
|
UTSW |
1 |
82,290,098 (GRCm38) |
nonsense |
probably null |
|
|
runt
|
UTSW |
1 |
82,287,732 (GRCm38) |
frame shift |
probably null |
|
|
runt2
|
UTSW |
1 |
82,286,967 (GRCm38) |
nonsense |
probably null |
|
|
Sprite
|
UTSW |
1 |
82,288,109 (GRCm38) |
nonsense |
probably null |
|
|
R0019:Irs1
|
UTSW |
1 |
82,287,256 (GRCm38) |
nonsense |
probably null |
|
|
R0063:Irs1
|
UTSW |
1 |
82,288,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0063:Irs1
|
UTSW |
1 |
82,288,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0318:Irs1
|
UTSW |
1 |
82,288,660 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1199:Irs1
|
UTSW |
1 |
82,289,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1363:Irs1
|
UTSW |
1 |
82,287,288 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1584:Irs1
|
UTSW |
1 |
82,289,444 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1874:Irs1
|
UTSW |
1 |
82,289,853 (GRCm38) |
frame shift |
probably null |
|
|
R1903:Irs1
|
UTSW |
1 |
82,289,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1929:Irs1
|
UTSW |
1 |
82,288,459 (GRCm38) |
missense |
probably benign |
|
|
R1986:Irs1
|
UTSW |
1 |
82,288,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2136:Irs1
|
UTSW |
1 |
82,290,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2179:Irs1
|
UTSW |
1 |
82,290,219 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2271:Irs1
|
UTSW |
1 |
82,288,459 (GRCm38) |
missense |
probably benign |
|
|
R2760:Irs1
|
UTSW |
1 |
82,288,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3721:Irs1
|
UTSW |
1 |
82,290,085 (GRCm38) |
missense |
probably benign |
0.11 |
|
R3821:Irs1
|
UTSW |
1 |
82,290,049 (GRCm38) |
missense |
probably benign |
|
|
R4306:Irs1
|
UTSW |
1 |
82,287,964 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4420:Irs1
|
UTSW |
1 |
82,288,450 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4451:Irs1
|
UTSW |
1 |
82,289,028 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4479:Irs1
|
UTSW |
1 |
82,287,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4771:Irs1
|
UTSW |
1 |
82,287,975 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4782:Irs1
|
UTSW |
1 |
82,287,463 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4836:Irs1
|
UTSW |
1 |
82,287,732 (GRCm38) |
frame shift |
probably null |
|
|
R4880:Irs1
|
UTSW |
1 |
82,287,732 (GRCm38) |
frame shift |
probably null |
|
|
R4881:Irs1
|
UTSW |
1 |
82,287,732 (GRCm38) |
frame shift |
probably null |
|
|
R5031:Irs1
|
UTSW |
1 |
82,286,967 (GRCm38) |
nonsense |
probably null |
|
|
R5053:Irs1
|
UTSW |
1 |
82,286,922 (GRCm38) |
missense |
probably benign |
|
|
R5418:Irs1
|
UTSW |
1 |
82,288,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5595:Irs1
|
UTSW |
1 |
82,289,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5698:Irs1
|
UTSW |
1 |
82,288,734 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6381:Irs1
|
UTSW |
1 |
82,287,684 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6563:Irs1
|
UTSW |
1 |
82,288,407 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7002:Irs1
|
UTSW |
1 |
82,288,260 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7095:Irs1
|
UTSW |
1 |
82,290,098 (GRCm38) |
nonsense |
probably null |
|
|
R7195:Irs1
|
UTSW |
1 |
82,287,456 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7216:Irs1
|
UTSW |
1 |
82,289,755 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7361:Irs1
|
UTSW |
1 |
82,289,114 (GRCm38) |
nonsense |
probably null |
|
|
R7490:Irs1
|
UTSW |
1 |
82,287,264 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7540:Irs1
|
UTSW |
1 |
82,288,002 (GRCm38) |
missense |
not run |
|
|
R7706:Irs1
|
UTSW |
1 |
82,287,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7910:Irs1
|
UTSW |
1 |
82,290,081 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7912:Irs1
|
UTSW |
1 |
82,289,884 (GRCm38) |
missense |
probably benign |
|
|
R7962:Irs1
|
UTSW |
1 |
82,288,722 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R8139:Irs1
|
UTSW |
1 |
82,289,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8158:Irs1
|
UTSW |
1 |
82,289,533 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8159:Irs1
|
UTSW |
1 |
82,288,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8187:Irs1
|
UTSW |
1 |
82,288,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8288:Irs1
|
UTSW |
1 |
82,287,961 (GRCm38) |
nonsense |
probably null |
|
|
R8865:Irs1
|
UTSW |
1 |
82,288,109 (GRCm38) |
nonsense |
probably null |
|
|
R8950:Irs1
|
UTSW |
1 |
82,286,931 (GRCm38) |
missense |
probably benign |
|
|
R9591:Irs1
|
UTSW |
1 |
82,288,248 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0063:Irs1
|
UTSW |
1 |
82,288,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0065:Irs1
|
UTSW |
1 |
82,289,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Irs1
|
UTSW |
1 |
82,290,394 (GRCm38) |
missense |
probably benign |
0.29 |
|
Z1177:Irs1
|
UTSW |
1 |
82,288,996 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACCTGCCAGACCTCCTTG -3'
(R):5'- GCCCAAGAGTATGCATAAGCG -3'
Sequencing Primer
(F):5'- GACCCGTGTCATAGCTCAAGTC -3'
(R):5'- CCAAGAGTATGCATAAGCGCTTTTTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation