Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00325:Irs1'

7431

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: 0.647) question?

Stock #

IGL00325

Quality Score

Status

Chromosome

Chromosomal Location

82233101-82291416 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82288483 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 671 (I671V)

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: I671V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: I671V

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,882,691 (GRCm38)	S431P	possibly damaging	Het
Arid1b	C	A	17: 5,337,110 (GRCm38)	R1613S	possibly damaging	Het
Atxn2l	T	C	7: 126,498,288 (GRCm38)	D196G	possibly damaging	Het
Bag3	C	A	7: 128,546,341 (GRCm38)	T560K	probably benign	Het
BC051076	A	G	5: 87,964,495 (GRCm38)		probably benign	Het
Becn1	A	T	11: 101,295,622 (GRCm38)	M18K	probably benign	Het
C130050O18Rik	G	A	5: 139,414,738 (GRCm38)	C182Y	probably damaging	Het
Cfap43	A	G	19: 47,823,188 (GRCm38)		probably benign	Het
Cfap97	C	T	8: 46,170,185 (GRCm38)	S204L	probably damaging	Het
Gaa	A	G	11: 119,274,960 (GRCm38)	T100A	probably benign	Het
Gab2	C	T	7: 97,299,258 (GRCm38)	P352S	probably damaging	Het
Gckr	T	A	5: 31,307,767 (GRCm38)	I360N	possibly damaging	Het
Gm4553	T	C	7: 142,165,227 (GRCm38)	S155G	unknown	Het
Gulo	G	T	14: 66,005,949 (GRCm38)	A40D	probably damaging	Het
Itgax	T	C	7: 128,148,309 (GRCm38)	V1028A	possibly damaging	Het
Lamb3	T	C	1: 193,320,447 (GRCm38)	C67R	probably damaging	Het
Mpdz	A	T	4: 81,317,631 (GRCm38)	V1237E	probably damaging	Het
Nat8	C	T	6: 85,830,597 (GRCm38)	V185M	probably benign	Het
Ninj2	A	C	6: 120,198,062 (GRCm38)	T65P	probably benign	Het
Nrg2	T	C	18: 36,021,218 (GRCm38)	M549V	probably benign	Het
Nwd2	A	G	5: 63,805,475 (GRCm38)	M801V	probably benign	Het
Pde8b	T	C	13: 95,034,367 (GRCm38)	D589G	probably damaging	Het
Ppp1r35	T	A	5: 137,779,537 (GRCm38)	V155E	probably damaging	Het
Prss36	T	A	7: 127,944,927 (GRCm38)		probably benign	Het
Raver2	A	G	4: 101,102,868 (GRCm38)	K182E	probably damaging	Het
Ring1	T	G	17: 34,023,009 (GRCm38)	E142A	possibly damaging	Het
Sidt2	T	A	9: 45,942,236 (GRCm38)	M689L	possibly damaging	Het
Slc45a4	A	G	15: 73,587,655 (GRCm38)	V95A	probably damaging	Het
Ssc5d	T	C	7: 4,944,481 (GRCm38)	V1278A	possibly damaging	Het
Stk36	A	T	1: 74,634,702 (GRCm38)	K1251N	possibly damaging	Het
Utp14b	T	A	1: 78,664,545 (GRCm38)	S53R	probably damaging	Het
Vmn2r17	A	T	5: 109,427,992 (GRCm38)	E243V	probably benign	Het

Other mutations in Irs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8436:Irs1	UTSW	1	82,290,249 (GRCm38)	missense	possibly damaging	0.96
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

Posted On

2012-04-20