Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00534:Irs1'

7432

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) question?

Stock #

IGL00534

Quality Score

Status

Chromosome

Chromosomal Location

82210822-82269137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82266192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 675 (S675P)

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: S675P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: S675P

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsj	G	T	3: 126,158,594 (GRCm39)	A58S	probably benign	Het
Dchs1	A	T	7: 105,407,150 (GRCm39)	S2148T	probably benign	Het
Esd	T	C	14: 74,975,901 (GRCm39)	V34A	probably damaging	Het
Esyt1	A	G	10: 128,351,553 (GRCm39)		probably null	Het
Glce	G	A	9: 61,967,765 (GRCm39)	T462M	probably damaging	Het
Gm382	A	G	X: 125,971,238 (GRCm39)	Y1141C	probably damaging	Het
H2-T5	A	T	17: 36,479,021 (GRCm39)	I76N	probably damaging	Het
Hsd3b1	T	C	3: 98,760,562 (GRCm39)	E143G	probably damaging	Het
Igf2r	T	C	17: 12,958,215 (GRCm39)	T153A	probably damaging	Het
Lars1	A	T	18: 42,362,719 (GRCm39)	H573Q	probably damaging	Het
Lman2	T	C	13: 55,499,055 (GRCm39)	E237G	possibly damaging	Het
Map2k4	C	A	11: 65,610,305 (GRCm39)		probably benign	Het
Pde6b	T	C	5: 108,574,437 (GRCm39)		probably benign	Het
Pomgnt1	T	C	4: 116,009,958 (GRCm39)	L136P	probably damaging	Het
Ralgapb	T	A	2: 158,272,420 (GRCm39)	M158K	possibly damaging	Het
Serpina3n	A	G	12: 104,378,604 (GRCm39)	E308G	probably benign	Het
Sgo2a	T	A	1: 58,055,503 (GRCm39)	N562K	probably damaging	Het
Sipa1l2	T	C	8: 126,218,545 (GRCm39)	Y264C	probably damaging	Het
Snx27	G	A	3: 94,469,279 (GRCm39)	H21Y	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
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
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

2012-04-20