Mutagenetix > Incidental Mutation

Incidental Mutation 'R1363:Irs1'

156344

Institutional Source

Beutler Lab

Gene Symbol

Irs1

Ensembl Gene

ENSMUSG00000055980

Gene Name

insulin receptor substrate 1

Synonyms

G972R, IRS-1

MMRRC Submission

039428-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R1363 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

82210822-82269137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82265009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1069 (V1069A)

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: V1069A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: V1069A

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: 98.6%
3x: 97.1%
10x: 92.3%
20x: 80.9%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc88b	T	A	19: 6,827,739 (GRCm39)	Y921F	possibly damaging	Het
Cct7	G	T	6: 85,443,017 (GRCm39)	D265Y	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,087,509 (GRCm39)		probably benign	Het
Csf1r	A	G	18: 61,257,917 (GRCm39)	M629V	possibly damaging	Het
Dlk1	G	T	12: 109,421,430 (GRCm39)	G48V	probably damaging	Het
Fancc	T	C	13: 63,509,412 (GRCm39)	Y60C	probably damaging	Het
Ifi204	C	T	1: 173,576,862 (GRCm39)	V580I	probably benign	Het
Plxna2	C	T	1: 194,487,247 (GRCm39)	Q1601*	probably null	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,779,095 (GRCm39)		probably null	Het
Ptpn14	C	A	1: 189,530,825 (GRCm39)	F97L	probably damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rnf6	A	T	5: 146,148,369 (GRCm39)	F216L	probably benign	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Scyl3	A	G	1: 163,778,259 (GRCm39)	I466V	probably benign	Het
Slc7a11	T	C	3: 50,378,500 (GRCm39)	Y246C	probably damaging	Het
Stk33	A	T	7: 108,879,028 (GRCm39)	S440R	probably benign	Het
Ttbk2	T	C	2: 120,637,389 (GRCm39)		probably null	Het
Vmn2r105	T	A	17: 20,428,932 (GRCm39)	T715S	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCACACATTCTCAAAGGATGCAG -3'
(R):5'- TCAGCTATGCTGACATGCGGAC -3'

Sequencing Primer
(F):5'- CATTCTCAAAGGATGCAGAGCTG -3'
(R):5'- ATGCGGACAGGCATTGC -3'

Posted On

2014-02-11