Incidental Mutation 'IGL03338:Irs1'
| ID |
417111 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Irs1
|
| Ensembl Gene |
ENSMUSG00000055980 |
| Gene Name |
insulin receptor substrate 1 |
| Synonyms |
G972R, IRS-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.620)
|
| Stock # |
IGL03338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
82210822-82269137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82266122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 698
(V698A)
|
| 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: V698A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: V698A
| 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 |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,744,153 (GRCm39) |
V260M |
probably damaging |
Het |
| Accsl |
T |
A |
2: 93,686,092 (GRCm39) |
H575L |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,253,512 (GRCm39) |
I218F |
possibly damaging |
Het |
| Bora |
C |
A |
14: 99,310,178 (GRCm39) |
N502K |
probably damaging |
Het |
| Brd4 |
T |
A |
17: 32,432,046 (GRCm39) |
D606V |
probably damaging |
Het |
| Ccdc190 |
T |
A |
1: 169,757,544 (GRCm39) |
M1K |
probably null |
Het |
| Ccl25 |
T |
C |
8: 4,399,898 (GRCm39) |
|
probably benign |
Het |
| Cep78 |
G |
T |
19: 15,936,987 (GRCm39) |
T573K |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
C |
T |
6: 106,632,550 (GRCm39) |
H525Y |
probably damaging |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,509 (GRCm39) |
E101G |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,387,403 (GRCm39) |
V941A |
probably benign |
Het |
| Exoc6b |
A |
G |
6: 84,821,112 (GRCm39) |
I559T |
probably damaging |
Het |
| Fmr1 |
T |
C |
X: 67,731,942 (GRCm39) |
|
probably null |
Het |
| Ghr |
A |
T |
15: 3,377,024 (GRCm39) |
C66S |
probably damaging |
Het |
| Hook1 |
C |
A |
4: 95,886,929 (GRCm39) |
|
probably benign |
Het |
| Igsf1 |
T |
C |
X: 48,876,376 (GRCm39) |
T73A |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,701,755 (GRCm39) |
K451R |
probably benign |
Het |
| Kat2a |
T |
C |
11: 100,602,301 (GRCm39) |
D151G |
probably benign |
Het |
| Lyrm1 |
A |
T |
7: 119,513,469 (GRCm39) |
Q78L |
probably benign |
Het |
| Madd |
C |
T |
2: 90,992,507 (GRCm39) |
G1012E |
possibly damaging |
Het |
| Mboat1 |
T |
A |
13: 30,320,742 (GRCm39) |
D31E |
probably benign |
Het |
| Myh8 |
C |
A |
11: 67,189,172 (GRCm39) |
A1116D |
probably damaging |
Het |
| Nop2 |
G |
A |
6: 125,116,695 (GRCm39) |
|
probably null |
Het |
| Notch1 |
A |
G |
2: 26,349,971 (GRCm39) |
S2390P |
probably benign |
Het |
| Or10ag57 |
T |
G |
2: 87,218,470 (GRCm39) |
N140K |
probably benign |
Het |
| Or52z14 |
T |
A |
7: 103,253,615 (GRCm39) |
C251* |
probably null |
Het |
| Or6c66b |
A |
G |
10: 129,376,925 (GRCm39) |
D173G |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,467,816 (GRCm39) |
S272P |
probably damaging |
Het |
| Plg |
A |
G |
17: 12,637,959 (GRCm39) |
Y795C |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,536,843 (GRCm39) |
K335R |
probably benign |
Het |
| Pramel13 |
T |
A |
4: 144,121,397 (GRCm39) |
Y209F |
probably benign |
Het |
| Pramel24 |
T |
C |
4: 143,453,312 (GRCm39) |
I140T |
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,692,411 (GRCm39) |
I197V |
probably benign |
Het |
| Pramel28 |
T |
A |
4: 143,692,608 (GRCm39) |
Q131L |
probably benign |
Het |
| Prdm4 |
A |
T |
10: 85,743,685 (GRCm39) |
M190K |
possibly damaging |
Het |
| Prex2 |
T |
A |
1: 11,210,489 (GRCm39) |
F597L |
probably benign |
Het |
| Ranbp3l |
A |
G |
15: 9,060,940 (GRCm39) |
E403G |
probably damaging |
Het |
| Rgmb |
C |
T |
17: 16,027,565 (GRCm39) |
A385T |
possibly damaging |
Het |
| Scn4a |
T |
A |
11: 106,211,671 (GRCm39) |
I1449F |
probably damaging |
Het |
| Slc17a9 |
T |
C |
2: 180,382,311 (GRCm39) |
|
probably benign |
Het |
| Slc26a2 |
T |
C |
18: 61,331,974 (GRCm39) |
I486V |
probably damaging |
Het |
| Sntn |
A |
T |
14: 13,678,991 (GRCm38) |
D55V |
probably damaging |
Het |
| Snx25 |
T |
A |
8: 46,498,247 (GRCm39) |
R595S |
probably benign |
Het |
| Spag11b |
C |
T |
8: 19,191,426 (GRCm39) |
T33I |
probably damaging |
Het |
| Sval2 |
A |
G |
6: 41,841,181 (GRCm39) |
I81M |
probably damaging |
Het |
| Tab2 |
A |
G |
10: 7,795,039 (GRCm39) |
V481A |
probably damaging |
Het |
| Zfp867 |
G |
A |
11: 59,355,003 (GRCm39) |
Q109* |
probably null |
Het |
| Zfp935 |
T |
C |
13: 62,602,247 (GRCm39) |
T318A |
probably benign |
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 |
|
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 |
|
|
R8950:Irs1
|
UTSW |
1 |
82,264,652 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation