Mutagenetix > Incidental Mutation

Incidental Mutation 'R4880:Irs1'

375181

Institutional Source

Beutler Lab

Gene Symbol

Irs1

Ensembl Gene

ENSMUSG00000055980

Gene Name

insulin receptor substrate 1

Synonyms

G972R, IRS-1

MMRRC Submission

042489-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.647) question?

Stock #

R4880 (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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

98% (89/91)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	G	9: 92,354,612	E108G	probably damaging	Het
2610021A01Rik	T	C	7: 41,627,105	I744T	possibly damaging	Het
4931409K22Rik	T	C	5: 24,549,752	D340G	probably benign	Het
Adgrb1	T	A	15: 74,587,022	F1324L	possibly damaging	Het
Adm	A	G	7: 110,629,119	H230R	probably benign	Het
Ank2	A	T	3: 127,046,826		probably null	Het
Arih1	A	T	9: 59,436,885	F156L	possibly damaging	Het
Atf6b	A	G	17: 34,654,555	H660R	probably damaging	Het
Bcl9l	C	A	9: 44,508,710	Q1101K	probably benign	Het
Ccdc174	G	A	6: 91,899,591		probably benign	Het
Ccdc65	A	C	15: 98,722,657		probably null	Het
Cela2a	T	C	4: 141,822,287	N59S	probably benign	Het
Cfap157	A	T	2: 32,778,249	V393E	probably damaging	Het
Chd1	T	C	17: 17,374,654	F17S	probably damaging	Het
Cpne3	T	C	4: 19,540,827	I183V	probably benign	Het
Cyp2d11	C	A	15: 82,392,105	V122L	probably benign	Het
Dcaf8	C	A	1: 172,187,489		probably benign	Het
Dchs1	T	A	7: 105,755,730	D2535V	probably benign	Het
Eif4a2	G	T	16: 23,108,900		probably benign	Het
Fzd4	T	A	7: 89,407,901	D385E	probably benign	Het
Galnt13	C	A	2: 55,060,572	Q422K	probably damaging	Het
Gm9745	A	T	13: 8,940,666		probably null	Het
Gnptab	C	T	10: 88,432,551	Q507*	probably null	Het
Hoxa7	A	G	6: 52,217,034		probably benign	Het
Htra1	T	A	7: 130,962,083	V228D	probably damaging	Het
Ifi203	T	A	1: 173,929,150		probably benign	Het
Itga2b	G	T	11: 102,457,722		probably benign	Het
Itgb1	G	T	8: 128,716,150	R272L	probably damaging	Het
Kif9	A	G	9: 110,501,635	E343G	probably damaging	Het
Klhl5	T	C	5: 65,158,901	V97A	probably damaging	Het
Lama5	C	A	2: 180,177,068		probably benign	Het
Lamb2	A	G	9: 108,484,027		probably null	Het
Lrp1b	T	A	2: 41,770,919	Y59F	probably benign	Het
Mmrn1	A	G	6: 60,976,439	E568G	probably benign	Het
Mreg	A	G	1: 72,162,336	Y166H	probably damaging	Het
Myh7	C	A	14: 54,978,588	V1323F	probably benign	Het
Nr1i3	T	A	1: 171,216,382	I91K	probably damaging	Het
Nsfl1c	T	A	2: 151,506,310	D206E	probably damaging	Het
Olfr1294	A	T	2: 111,537,353	L312*	probably null	Het
Olfr181	A	C	16: 58,926,100	L157W	probably damaging	Het
Olfr273	A	T	4: 52,856,411	M34K	probably damaging	Het
Olfr318	G	A	11: 58,720,281	L256F	probably benign	Het
Olfr739	T	C	14: 50,425,301	Y261H	possibly damaging	Het
Olfr921	T	A	9: 38,775,547	C97*	probably null	Het
Pcdhb7	C	T	18: 37,342,231	T140I	probably benign	Het
Pcdhgb5	T	G	18: 37,732,588	S479A	probably benign	Het
Pcsk5	T	A	19: 17,447,690	Y1583F	probably damaging	Het
Pias1	T	C	9: 62,912,798	R296G	probably benign	Het
Polr1e	T	A	4: 45,022,280	C100S	probably damaging	Het
Rpap1	C	A	2: 119,783,865	R17L	probably damaging	Het
Rtn1	C	T	12: 72,217,458	V192I	possibly damaging	Het
Ryr2	G	A	13: 11,752,218	P1262L	probably damaging	Het
Slc4a7	G	T	14: 14,757,342	D396Y	probably damaging	Het
Slc5a8	T	C	10: 88,892,024	Y118H	probably damaging	Het
Slc7a6os	T	A	8: 106,210,615	Q71L	probably benign	Het
Sphkap	A	G	1: 83,288,817	V127A	probably damaging	Het
Srpk1	A	G	17: 28,591,225	S580P	probably damaging	Het
Syne2	A	G	12: 75,979,819	I3474V	probably damaging	Het
Tchh	A	G	3: 93,443,823	D190G	possibly damaging	Het
Tenm4	T	A	7: 96,905,818		probably null	Het
Tex14	T	A	11: 87,486,295	I155N	possibly damaging	Het
Tm7sf3	A	T	6: 146,609,860	V377E	possibly damaging	Het
Tnfsf9	T	A	17: 57,105,433	M1K	probably null	Het
Tns2	C	T	15: 102,112,039	T780I	probably damaging	Het
Trdn	T	A	10: 33,471,579	D639E	probably benign	Het
Trmt10a	A	G	3: 138,152,211	E173G	possibly damaging	Het
Ttn	G	A	2: 76,818,775	P10984S	possibly damaging	Het
Tubb6	C	T	18: 67,401,316	T95M	possibly damaging	Het
Uroc1	G	T	6: 90,357,537	R577L	probably damaging	Het
Vmn2r86	T	A	10: 130,453,615	D137V	probably benign	Het
Xkr7	T	C	2: 153,054,953	Y576H	probably damaging	Het
Zfp410	A	G	12: 84,337,675	N355D	probably damaging	Het
Zfp59	C	A	7: 27,844,317	D22E	probably damaging	Het
Zfp64	C	T	2: 168,894,377	R460H	probably damaging	Het
Zfp655	T	C	5: 145,244,358	V342A	probably damaging	Het
Zfp990	G	A	4: 145,537,920	G496E	probably benign	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
R4881: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'- AGTCACCACGGCTATTTGG -3'
(R):5'- AGGTAGACACAGCTGCACAG -3'

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

Posted On

2016-03-17