Mutagenetix > Incidental Mutation

Incidental Mutation 'R4881:Irs1'

375262

Institutional Source

Beutler Lab

Gene Symbol

Irs1

Ensembl Gene

ENSMUSG00000055980

Gene Name

insulin receptor substrate 1

Synonyms

G972R, IRS-1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R4881 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

82233101-82291416 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

TGGGGTGGACATCGAACTGAAGGAG to TG at 82287732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

at position 913 (913)

Ref Sequence

ENSEMBL: ENSMUSP00000063795 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000069799
AA Change: 913

SMART Domains

Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: 913

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (57/57)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,278,249	L1040P	possibly damaging	Het
Acot11	C	A	4: 106,755,305		probably null	Het
Aldoart2	C	A	12: 55,566,114	Q275K	probably damaging	Het
Auts2	T	C	5: 131,472,450	T42A	probably damaging	Het
Bora	C	T	14: 99,061,567	L187F	probably damaging	Het
Cbln4	A	G	2: 172,042,139	S54P	possibly damaging	Het
Celsr3	T	A	9: 108,843,941	L2661Q	probably damaging	Het
Cfap65	T	C	1: 74,907,613	T1313A	probably damaging	Het
Dbndd2	C	A	2: 164,490,305		probably benign	Het
Dennd4a	A	G	9: 64,838,844	D4G	possibly damaging	Het
Dmxl1	T	A	18: 49,957,281		probably benign	Het
Dnah7b	T	C	1: 46,201,318	C1532R	probably damaging	Het
Erbb3	A	T	10: 128,576,947	H591Q	probably benign	Het
Exosc4	T	C	15: 76,329,570	L198P	probably damaging	Het
F2r	A	T	13: 95,618,329	C16S	possibly damaging	Het
Fam129b	C	A	2: 32,922,578	Y446*	probably null	Het
Gtf2h4	A	T	17: 35,670,233	I234N	possibly damaging	Het
Ift27	A	T	15: 78,165,248	V84D	probably damaging	Het
Ints10	C	T	8: 68,810,604	A389V	probably benign	Het
Klrc2	T	A	6: 129,660,508	T17S	possibly damaging	Het
Matr3	T	A	18: 35,572,375	S118T	probably damaging	Het
Mfsd6l	C	T	11: 68,557,922	A533V	probably benign	Het
Msh3	A	G	13: 92,266,041		probably benign	Het
Myo5c	A	G	9: 75,284,152	M1103V	probably benign	Het
Olfr1336	A	T	7: 6,460,754	M82L	probably benign	Het
Olfr1391	T	A	11: 49,328,297	D295E	probably benign	Het
Olfr513	T	C	7: 108,755,405	L183P	probably damaging	Het
Osbpl3	A	T	6: 50,352,784	D88E	possibly damaging	Het
Pou1f1	C	T	16: 65,531,842	T149I	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Pstpip2	T	A	18: 77,874,332	Y267*	probably null	Het
Rcor1	A	G	12: 111,097,552	D95G	probably damaging	Het
Rttn	T	C	18: 89,101,685	L1748P	probably damaging	Het
Slco2a1	A	G	9: 103,085,832	K629E	possibly damaging	Het
Smarcc1	A	G	9: 110,135,628		probably benign	Het
Son	A	G	16: 91,675,509	K360E	probably benign	Het
Stab1	A	T	14: 31,143,672	M1753K	probably benign	Het
Syne2	A	G	12: 75,979,819	I3474V	probably damaging	Het
Tmem63c	A	T	12: 87,086,418	T736S	possibly damaging	Het
Tmpo	G	A	10: 91,162,641	P428L	possibly damaging	Het
Tmprss11a	G	T	5: 86,422,573	Q176K	probably damaging	Het
Trappc4	A	G	9: 44,404,025	S219P	probably damaging	Het
Vmn2r117	G	T	17: 23,477,885	P183T	probably damaging	Het
Vmn2r54	C	T	7: 12,629,671	V432I	probably benign	Het
Vtcn1	G	A	3: 100,892,593	G257R	probably benign	Het
Yipf1	T	A	4: 107,345,091	M217K	possibly damaging	Het
Zfc3h1	T	C	10: 115,400,742	S374P	probably benign	Het
Zfp407	T	C	18: 84,559,703	H1095R	probably benign	Het
Zfp661	A	T	2: 127,578,644	H78Q	probably benign	Het
Zfp957	T	C	14: 79,213,409	T317A	unknown	Het
Zfyve9	T	A	4: 108,727,491		probably null	Het

Other mutations in Irs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Irs1	APN	1	82288483	missense	probably benign	0.01
IGL00534:Irs1	APN	1	82288471	missense	probably benign
IGL01926:Irs1	APN	1	82289959	missense	probably damaging	0.98
IGL02130:Irs1	APN	1	82289467	missense	probably damaging	1.00
IGL03338:Irs1	APN	1	82288401	missense	probably benign	0.05
Hoverboard	UTSW	1	82290098	nonsense	probably null
runt	UTSW	1	82287732	frame shift	probably null
runt2	UTSW	1	82286967	nonsense	probably null
Sprite	UTSW	1	82288109	nonsense	probably null
R0019:Irs1	UTSW	1	82287256	nonsense	probably null
R0063:Irs1	UTSW	1	82288859	missense	probably damaging	1.00
R0063:Irs1	UTSW	1	82288859	missense	probably damaging	1.00
R0318:Irs1	UTSW	1	82288660	missense	probably benign	0.01
R1199:Irs1	UTSW	1	82289626	missense	probably damaging	1.00
R1363:Irs1	UTSW	1	82287288	missense	probably benign	0.02
R1584:Irs1	UTSW	1	82289444	missense	probably benign	0.24
R1874:Irs1	UTSW	1	82289853	frame shift	probably null
R1903:Irs1	UTSW	1	82289461	missense	probably damaging	1.00
R1929:Irs1	UTSW	1	82288459	missense	probably benign
R1986:Irs1	UTSW	1	82288765	missense	probably damaging	1.00
R2136:Irs1	UTSW	1	82290042	missense	probably damaging	1.00
R2179:Irs1	UTSW	1	82290219	missense	possibly damaging	0.81
R2271:Irs1	UTSW	1	82288459	missense	probably benign
R2760:Irs1	UTSW	1	82288570	missense	probably damaging	1.00
R3721:Irs1	UTSW	1	82290085	missense	probably benign	0.11
R3821:Irs1	UTSW	1	82290049	missense	probably benign
R4306:Irs1	UTSW	1	82287964	missense	probably benign	0.11
R4420:Irs1	UTSW	1	82288450	missense	possibly damaging	0.94
R4451:Irs1	UTSW	1	82289028	missense	probably benign	0.00
R4479:Irs1	UTSW	1	82287294	missense	probably damaging	1.00
R4771:Irs1	UTSW	1	82287975	missense	probably benign	0.00
R4782:Irs1	UTSW	1	82287463	missense	probably benign	0.00
R4836:Irs1	UTSW	1	82287732	frame shift	probably null
R4880:Irs1	UTSW	1	82287732	frame shift	probably null
R5031:Irs1	UTSW	1	82286967	nonsense	probably null
R5053:Irs1	UTSW	1	82286922	missense	probably benign
R5418:Irs1	UTSW	1	82288770	missense	probably damaging	1.00
R5595:Irs1	UTSW	1	82289925	missense	probably damaging	1.00
R5698:Irs1	UTSW	1	82288734	missense	probably benign	0.01
R6381:Irs1	UTSW	1	82287684	missense	possibly damaging	0.66
R6563:Irs1	UTSW	1	82288407	missense	probably damaging	0.98
R7002:Irs1	UTSW	1	82288260	missense	probably benign	0.13
R7095:Irs1	UTSW	1	82290098	nonsense	probably null
R7195:Irs1	UTSW	1	82287456	missense	probably benign	0.13
R7216:Irs1	UTSW	1	82289755	missense	probably damaging	0.98
R7361:Irs1	UTSW	1	82289114	nonsense	probably null
R7490:Irs1	UTSW	1	82287264	missense	probably damaging	0.99
R7540:Irs1	UTSW	1	82288002	missense	not run
R7706:Irs1	UTSW	1	82287691	missense	probably damaging	1.00
R7910:Irs1	UTSW	1	82290081	missense	probably benign	0.06
R7912:Irs1	UTSW	1	82289884	missense	probably benign
R7962:Irs1	UTSW	1	82288722	missense	possibly damaging	0.57
R8139:Irs1	UTSW	1	82289739	missense	probably damaging	1.00
R8158:Irs1	UTSW	1	82289533	missense	probably damaging	1.00
R8159:Irs1	UTSW	1	82288569	missense	probably damaging	1.00
R8187:Irs1	UTSW	1	82288300	missense	probably damaging	1.00
R8288:Irs1	UTSW	1	82287961	nonsense	probably null
R8436:Irs1	UTSW	1	82290249	missense	possibly damaging	0.96
R8865:Irs1	UTSW	1	82288109	nonsense	probably null
R8950:Irs1	UTSW	1	82286931	missense	probably benign
R9591:Irs1	UTSW	1	82288248	missense	probably benign	0.00
X0063:Irs1	UTSW	1	82288908	missense	probably damaging	1.00
X0065:Irs1	UTSW	1	82289365	missense	probably damaging	1.00
Z1177:Irs1	UTSW	1	82288996	missense	possibly damaging	0.87
Z1177:Irs1	UTSW	1	82290394	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- ACGGCTATTTGGCACCGAAC -3'
(R):5'- GTAGACACAGCTGCACAGAC -3'

Sequencing Primer
(F):5'- AACGGGTTGGCCTGCAAAC -3'
(R):5'- TCGACCCACAAGGCTGTC -3'

Posted On

2016-03-17