Incidental Mutation 'R8950:Irs1'
| ID |
681546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irs1
|
| Ensembl Gene |
ENSMUSG00000055980 |
| Gene Name |
insulin receptor substrate 1 |
| Synonyms |
G972R, IRS-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.558)
|
| Stock # |
R8950 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
82210822-82269137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82264652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1188
(Q1188L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069799]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069799
AA Change: Q1188L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: Q1188L
| 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: 99.8%
- 20x: 99.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,823,595 (GRCm39) |
F374S |
possibly damaging |
Het |
| Abca14 |
T |
A |
7: 119,823,644 (GRCm39) |
Y390* |
probably null |
Het |
| Abca9 |
T |
C |
11: 110,054,206 (GRCm39) |
|
probably null |
Het |
| Anxa1 |
G |
T |
19: 20,352,662 (GRCm39) |
S304* |
probably null |
Het |
| Aspm |
G |
A |
1: 139,406,690 (GRCm39) |
R1859Q |
probably damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,197,314 (GRCm39) |
N14K |
probably damaging |
Het |
| Bmpr1a |
G |
T |
14: 34,163,148 (GRCm39) |
H81N |
possibly damaging |
Het |
| Camkv |
C |
T |
9: 107,824,296 (GRCm39) |
T236I |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,490,789 (GRCm39) |
M219K |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,474,507 (GRCm39) |
R1352G |
probably benign |
Het |
| Cd200l1 |
A |
T |
16: 45,263,007 (GRCm39) |
V44D |
possibly damaging |
Het |
| Cib1 |
A |
G |
7: 79,878,211 (GRCm39) |
L89P |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
| Crebbp |
A |
G |
16: 4,031,023 (GRCm39) |
F22S |
probably damaging |
Het |
| Csf2rb |
A |
T |
15: 78,232,520 (GRCm39) |
D609V |
probably benign |
Het |
| Csn1s1 |
T |
C |
5: 87,824,482 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
A |
T |
7: 105,408,212 (GRCm39) |
H1873Q |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,012,396 (GRCm39) |
D1901G |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,519,016 (GRCm39) |
T1235N |
probably benign |
Het |
| Eddm3b |
T |
A |
14: 51,354,110 (GRCm39) |
S33T |
probably damaging |
Het |
| Fam151b |
A |
T |
13: 92,610,567 (GRCm39) |
M74K |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,476,158 (GRCm39) |
F1735I |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,863,751 (GRCm39) |
R2508G |
probably benign |
Het |
| Fip1l1 |
T |
G |
5: 74,756,524 (GRCm39) |
S505R |
probably damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gpr180 |
A |
G |
14: 118,395,452 (GRCm39) |
I295V |
probably benign |
Het |
| Gtf3c2 |
G |
A |
5: 31,331,151 (GRCm39) |
T175I |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,244,741 (GRCm39) |
Y733H |
probably damaging |
Het |
| Kcnk5 |
T |
C |
14: 20,192,046 (GRCm39) |
R372G |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,541,664 (GRCm39) |
N746K |
possibly damaging |
Het |
| Kdm7a |
T |
C |
6: 39,123,903 (GRCm39) |
I754V |
probably benign |
Het |
| Mad2l1bp |
G |
A |
17: 46,458,891 (GRCm39) |
T213I |
possibly damaging |
Het |
| Map2 |
G |
T |
1: 66,419,684 (GRCm39) |
R5L |
probably damaging |
Het |
| Map4 |
G |
A |
9: 109,901,702 (GRCm39) |
V781M |
possibly damaging |
Het |
| Mbd2 |
A |
G |
18: 70,713,864 (GRCm39) |
D231G |
probably damaging |
Het |
| Negr1 |
C |
A |
3: 156,721,906 (GRCm39) |
P160Q |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,700,489 (GRCm39) |
|
probably benign |
Het |
| Nlk |
T |
C |
11: 78,586,758 (GRCm39) |
Q112R |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,947,009 (GRCm39) |
A4339S |
probably damaging |
Het |
| Or3a10 |
A |
G |
11: 73,935,782 (GRCm39) |
F106S |
possibly damaging |
Het |
| Or5b99 |
A |
T |
19: 12,976,445 (GRCm39) |
I32F |
probably damaging |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,590 (GRCm39) |
T579A |
probably benign |
Het |
| Pcdhb2 |
G |
A |
18: 37,429,715 (GRCm39) |
V563M |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,208,729 (GRCm39) |
R2545G |
probably benign |
Het |
| Plcb1 |
A |
G |
2: 135,179,439 (GRCm39) |
N616D |
probably damaging |
Het |
| Pogk |
A |
T |
1: 166,226,394 (GRCm39) |
F586I |
probably damaging |
Het |
| Polr1f |
T |
A |
12: 33,483,526 (GRCm39) |
Y93N |
probably damaging |
Het |
| Prkg2 |
T |
A |
5: 99,119,815 (GRCm39) |
I435F |
possibly damaging |
Het |
| Prrt4 |
T |
C |
6: 29,177,665 (GRCm39) |
T35A |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,767,576 (GRCm39) |
S342P |
probably damaging |
Het |
| Rpl36-ps4 |
A |
G |
17: 88,228,574 (GRCm39) |
T40A |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,374,349 (GRCm39) |
T1247A |
unknown |
Het |
| Slc22a14 |
A |
G |
9: 118,998,778 (GRCm39) |
L182P |
possibly damaging |
Het |
| Slc35b3 |
T |
C |
13: 39,138,097 (GRCm39) |
D104G |
probably damaging |
Het |
| Sult2a1 |
A |
G |
7: 13,530,342 (GRCm39) |
F266L |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,467,484 (GRCm39) |
M1L |
probably damaging |
Het |
| Tat |
T |
A |
8: 110,718,337 (GRCm39) |
I74N |
probably damaging |
Het |
| Trappc6a |
G |
T |
7: 19,249,923 (GRCm39) |
|
probably benign |
Het |
| Usp44 |
A |
G |
10: 93,682,129 (GRCm39) |
E193G |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,519,047 (GRCm39) |
Q765* |
probably null |
Het |
| Vmn1r46 |
T |
C |
6: 89,954,053 (GRCm39) |
S301P |
probably damaging |
Het |
| Vmn2r116 |
A |
T |
17: 23,620,467 (GRCm39) |
I734F |
probably damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,522 (GRCm39) |
V819D |
probably damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,569 (GRCm39) |
I259T |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,723,340 (GRCm39) |
I286T |
probably damaging |
Het |
| Wdr73 |
T |
C |
7: 80,550,131 (GRCm39) |
I55V |
probably benign |
Het |
| Znhit2 |
A |
T |
19: 6,111,803 (GRCm39) |
R183* |
probably null |
Het |
|
| Other mutations in Irs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Irs1
|
APN |
1 |
82,266,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00534:Irs1
|
APN |
1 |
82,266,192 (GRCm39) |
missense |
probably benign |
|
|
IGL01926:Irs1
|
APN |
1 |
82,267,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02130:Irs1
|
APN |
1 |
82,267,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03338:Irs1
|
APN |
1 |
82,266,122 (GRCm39) |
missense |
probably benign |
0.05 |
|
Hoverboard
|
UTSW |
1 |
82,267,819 (GRCm39) |
nonsense |
probably null |
|
|
runt
|
UTSW |
1 |
82,265,453 (GRCm39) |
frame shift |
probably null |
|
|
runt2
|
UTSW |
1 |
82,264,688 (GRCm39) |
nonsense |
probably null |
|
|
Sprite
|
UTSW |
1 |
82,265,830 (GRCm39) |
nonsense |
probably null |
|
|
R0019:Irs1
|
UTSW |
1 |
82,264,977 (GRCm39) |
nonsense |
probably null |
|
|
R0063:Irs1
|
UTSW |
1 |
82,266,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Irs1
|
UTSW |
1 |
82,266,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0318:Irs1
|
UTSW |
1 |
82,266,381 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1199:Irs1
|
UTSW |
1 |
82,267,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1363:Irs1
|
UTSW |
1 |
82,265,009 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1584:Irs1
|
UTSW |
1 |
82,267,165 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1874:Irs1
|
UTSW |
1 |
82,267,574 (GRCm39) |
frame shift |
probably null |
|
|
R1903:Irs1
|
UTSW |
1 |
82,267,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Irs1
|
UTSW |
1 |
82,266,180 (GRCm39) |
missense |
probably benign |
|
|
R1986:Irs1
|
UTSW |
1 |
82,266,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Irs1
|
UTSW |
1 |
82,267,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2179:Irs1
|
UTSW |
1 |
82,267,940 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2271:Irs1
|
UTSW |
1 |
82,266,180 (GRCm39) |
missense |
probably benign |
|
|
R2760:Irs1
|
UTSW |
1 |
82,266,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3721:Irs1
|
UTSW |
1 |
82,267,806 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3821:Irs1
|
UTSW |
1 |
82,267,770 (GRCm39) |
missense |
probably benign |
|
|
R4306:Irs1
|
UTSW |
1 |
82,265,685 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4420:Irs1
|
UTSW |
1 |
82,266,171 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4451:Irs1
|
UTSW |
1 |
82,266,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4479:Irs1
|
UTSW |
1 |
82,265,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Irs1
|
UTSW |
1 |
82,265,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4782:Irs1
|
UTSW |
1 |
82,265,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4836:Irs1
|
UTSW |
1 |
82,265,453 (GRCm39) |
frame shift |
probably null |
|
|
R4880:Irs1
|
UTSW |
1 |
82,265,453 (GRCm39) |
frame shift |
probably null |
|
|
R4881:Irs1
|
UTSW |
1 |
82,265,453 (GRCm39) |
frame shift |
probably null |
|
|
R5031:Irs1
|
UTSW |
1 |
82,264,688 (GRCm39) |
nonsense |
probably null |
|
|
R5053:Irs1
|
UTSW |
1 |
82,264,643 (GRCm39) |
missense |
probably benign |
|
|
R5418:Irs1
|
UTSW |
1 |
82,266,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5595:Irs1
|
UTSW |
1 |
82,267,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Irs1
|
UTSW |
1 |
82,266,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6381:Irs1
|
UTSW |
1 |
82,265,405 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6563:Irs1
|
UTSW |
1 |
82,266,128 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7002:Irs1
|
UTSW |
1 |
82,265,981 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7095:Irs1
|
UTSW |
1 |
82,267,819 (GRCm39) |
nonsense |
probably null |
|
|
R7195:Irs1
|
UTSW |
1 |
82,265,177 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7216:Irs1
|
UTSW |
1 |
82,267,476 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7361:Irs1
|
UTSW |
1 |
82,266,835 (GRCm39) |
nonsense |
probably null |
|
|
R7490:Irs1
|
UTSW |
1 |
82,264,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7540:Irs1
|
UTSW |
1 |
82,265,723 (GRCm39) |
missense |
not run |
|
|
R7706:Irs1
|
UTSW |
1 |
82,265,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Irs1
|
UTSW |
1 |
82,267,802 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7912:Irs1
|
UTSW |
1 |
82,267,605 (GRCm39) |
missense |
probably benign |
|
|
R7962:Irs1
|
UTSW |
1 |
82,266,443 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8139:Irs1
|
UTSW |
1 |
82,267,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8158:Irs1
|
UTSW |
1 |
82,267,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:Irs1
|
UTSW |
1 |
82,266,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8187:Irs1
|
UTSW |
1 |
82,266,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8288:Irs1
|
UTSW |
1 |
82,265,682 (GRCm39) |
nonsense |
probably null |
|
|
R8436:Irs1
|
UTSW |
1 |
82,267,970 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8865:Irs1
|
UTSW |
1 |
82,265,830 (GRCm39) |
nonsense |
probably null |
|
|
R9591:Irs1
|
UTSW |
1 |
82,265,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0063:Irs1
|
UTSW |
1 |
82,266,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Irs1
|
UTSW |
1 |
82,267,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Irs1
|
UTSW |
1 |
82,268,115 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1177:Irs1
|
UTSW |
1 |
82,266,717 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATCTGTGTACCCTGACC -3'
(R):5'- GTAAAACGCCACAGCTCTGC -3'
Sequencing Primer
(F):5'- CCCCATGGTAAAAGCACTTTTG -3'
(R):5'- ACAGCTCTGCATCCTTTGAGAATG -3'
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| Posted On |
2021-08-31 |
Incidental Mutation