Mutagenetix > Incidental Mutation

Incidental Mutation 'R0063:Irs1'

17342

Institutional Source

Beutler Lab

Gene Symbol

Irs1

Ensembl Gene

ENSMUSG00000055980

Gene Name

insulin receptor substrate 1

Synonyms

G972R, IRS-1

MMRRC Submission

038355-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R0063 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

82210822-82269137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82266580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 545 (E545D)

Ref Sequence

ENSEMBL: ENSMUSP00000063795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069799]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000069799
AA Change: E545D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: E545D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 89.1%
3x: 86.1%
10x: 78.0%
20x: 64.7%

Validation Efficiency

99% (86/87)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	C	T	16: 4,678,912 (GRCm39)	R245*	probably null	Het
4930563I02Rik	T	A	14: 60,333,477 (GRCm39)		probably benign	Het
Acss1	T	C	2: 150,469,212 (GRCm39)	T435A	probably damaging	Het
Aoc2	T	A	11: 101,216,897 (GRCm39)	S327T	probably damaging	Het
Arid5a	T	A	1: 36,357,645 (GRCm39)	Y252N	probably damaging	Het
AU040320	T	C	4: 126,733,465 (GRCm39)	Y662H	probably damaging	Het
Bcam	C	T	7: 19,500,773 (GRCm39)	V134I	probably benign	Het
Btbd16	A	T	7: 130,424,896 (GRCm39)	T426S	probably benign	Het
Cap2	T	C	13: 46,791,508 (GRCm39)		probably benign	Het
Capn8	T	A	1: 182,429,677 (GRCm39)	D299E	probably damaging	Het
Cdipt	G	A	7: 126,578,772 (GRCm39)	V160I	probably benign	Het
Cyb5r3	T	C	15: 83,046,137 (GRCm39)	T60A	probably benign	Het
Dazl	T	C	17: 152,705,859 (NCBIm37)	T212A	probably damaging	Het
Dgkb	T	G	12: 38,654,112 (GRCm39)	S744A	probably benign	Het
Dock2	T	A	11: 34,647,111 (GRCm39)		probably null	Het
Ece2	A	G	16: 20,461,067 (GRCm39)	T442A	probably benign	Het
Elapor2	T	C	5: 9,490,709 (GRCm39)		probably benign	Het
Emid1	A	T	11: 5,139,704 (GRCm38)		probably benign	Het
Eml3	C	A	19: 8,915,842 (GRCm39)	A644D	probably damaging	Het
Foxp1	A	G	6: 98,921,684 (GRCm39)		probably benign	Het
Ints8	T	C	4: 11,252,857 (GRCm39)	N75S	probably damaging	Het
Lama3	T	C	18: 12,661,762 (GRCm39)		probably benign	Het
Nat8f2	A	T	6: 85,844,815 (GRCm39)	S182R	possibly damaging	Het
Nrcam	G	T	12: 44,596,811 (GRCm39)	V343F	possibly damaging	Het
Pdk2	T	C	11: 94,923,306 (GRCm39)	H106R	probably benign	Het
Pkhd1	G	A	1: 20,282,174 (GRCm39)	T2889I	probably benign	Het
Pkhd1l1	T	A	15: 44,392,633 (GRCm39)	L1656H	probably damaging	Het
Plxna2	A	T	1: 194,327,247 (GRCm39)	T394S	probably benign	Het
Pnpla8	T	A	12: 44,329,615 (GRCm39)	C56S	probably damaging	Het
Prdm8	G	T	5: 98,332,453 (GRCm39)	R118L	probably damaging	Het
Prkce	T	C	17: 86,789,539 (GRCm39)		probably benign	Het
Ptprk	T	A	10: 28,139,763 (GRCm39)	Y163N	probably damaging	Het
Rbbp8	T	A	18: 11,867,614 (GRCm39)		probably benign	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Slc2a2	T	C	3: 28,771,589 (GRCm39)	M173T	probably damaging	Het
Slc2a8	T	A	2: 32,870,011 (GRCm39)		probably null	Het
Tmem131	C	T	1: 36,858,209 (GRCm39)	V713I	probably benign	Het
Tmem89	A	G	9: 108,743,880 (GRCm39)	N60S	probably benign	Het
Trio	G	T	15: 27,881,523 (GRCm39)		probably benign	Het
Tulp2	T	C	7: 45,170,284 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,244,542 (GRCm39)		probably benign	Het
Vwa8	A	G	14: 79,401,656 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,339,427 (GRCm39)	D556G	probably damaging	Het
Xrn1	T	C	9: 95,851,588 (GRCm39)	L202P	probably damaging	Het
Zfp354a	A	T	11: 50,960,398 (GRCm39)	H203L	probably damaging	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
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

2013-01-20