Mutagenetix > Incidental Mutation

Incidental Mutation 'R1929:Irs1'

215132

Institutional Source

Beutler Lab

Gene Symbol

Irs1

Ensembl Gene

ENSMUSG00000055980

Gene Name

insulin receptor substrate 1

Synonyms

G972R, IRS-1

MMRRC Submission

039947-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R1929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82233101-82291416 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82288459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 679 (S679G)

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: S679G

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

SMART Domains

Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: S679G

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

0.0597

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

98% (107/109)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,510,297	E160V	probably damaging	Het
Amdhd2	T	C	17: 24,157,886		probably null	Het
Angel1	A	C	12: 86,702,319	L656V	probably damaging	Het
Ankrd12	G	A	17: 65,986,686	S584L	possibly damaging	Het
Apbb2	T	A	5: 66,307,615	N679Y	probably benign	Het
Arid3c	T	A	4: 41,724,744	I364F	probably damaging	Het
Bcan	T	A	3: 87,993,094	S611C	probably damaging	Het
Bnip3	T	G	7: 138,894,630		silent	Het
Btc	T	C	5: 91,362,401	Y111C	probably damaging	Het
Carnmt1	T	C	19: 18,703,370	L336P	probably damaging	Het
Ccdc83	C	T	7: 90,224,077	V357I	probably damaging	Het
Cd2bp2	T	C	7: 127,193,878	D324G	probably benign	Het
Cdc20b	A	G	13: 113,071,917	T216A	probably benign	Het
Cdk17	T	C	10: 93,228,678	Y270H	probably damaging	Het
Cenpv	T	C	11: 62,525,233	E230G	probably benign	Het
Chst11	T	C	10: 83,191,170	Y144H	probably damaging	Het
Cracr2a	T	A	6: 127,607,298	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,899,957	R624L	probably null	Het
Cyp27b1	T	A	10: 127,048,312	V11D	probably damaging	Het
Ddc	T	C	11: 11,835,764	N308D	probably damaging	Het
Des	T	G	1: 75,363,493	M348R	probably damaging	Het
Dis3l	T	A	9: 64,330,883	D109V	probably damaging	Het
Dnah3	T	A	7: 119,975,129	I2136F	probably benign	Het
Dnah9	T	C	11: 65,976,398	S2785G	probably benign	Het
Dopey1	T	G	9: 86,494,418	V235G	probably damaging	Het
Dtx3l	A	T	16: 35,933,689	D182E	possibly damaging	Het
Efcab6	A	G	15: 83,892,962		probably benign	Het
Elac2	T	A	11: 64,979,189	S27T	probably benign	Het
Emsy	T	G	7: 98,626,623	K352N	probably damaging	Het
Erbb4	T	C	1: 68,198,888	N814S	probably damaging	Het
Fam71e2	T	A	7: 4,758,187	T509S	probably benign	Het
Fgd6	T	C	10: 94,045,006	V574A	probably benign	Het
Filip1	T	C	9: 79,819,930	E469G	probably damaging	Het
Fmo1	A	T	1: 162,833,855	D286E	probably damaging	Het
Fmo4	A	T	1: 162,799,047	I310N	possibly damaging	Het
Focad	A	G	4: 88,342,212	N902D	unknown	Het
Focad	A	G	4: 88,397,179	S1525G	probably benign	Het
Fras1	T	C	5: 96,667,437	W1338R	probably benign	Het
Fry	A	G	5: 150,400,924	I1151V	probably null	Het
Gm10076	T	G	14: 105,681,870		noncoding transcript	Het
Gm13088	G	A	4: 143,654,142	T437I	probably damaging	Het
Gm5698	T	G	1: 30,977,961	D3A	probably damaging	Het
Gm8394	A	G	10: 85,313,731		noncoding transcript	Het
Gngt2	C	T	11: 95,845,146		probably benign	Het
Gsdma	T	C	11: 98,671,367		probably null	Het
Gtf2h3	A	T	5: 124,602,199		probably benign	Het
Hkdc1	T	C	10: 62,417,898	T35A	probably benign	Het
Itpr1	T	A	6: 108,493,755	C2214S	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Kcnk16	A	G	14: 20,265,279	V72A	probably damaging	Het
Lipa	T	A	19: 34,510,890	R119*	probably null	Het
Matr3	T	A	18: 35,588,325		probably benign	Het
Med13l	T	G	5: 118,728,833	F651V	probably benign	Het
Mfsd11	T	C	11: 116,873,914	V388A	probably benign	Het
Mki67	C	T	7: 135,698,065	V1747I	possibly damaging	Het
Mms22l	T	C	4: 24,535,936		probably benign	Het
Msh5	A	G	17: 35,044,390	I154T	probably benign	Het
Myo5b	G	T	18: 74,733,925	L1382F	probably damaging	Het
Ncbp2	T	C	16: 31,956,951	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,008,347	R359L	probably benign	Het
Ntrk3	A	C	7: 78,516,723		probably null	Het
Olfr1234	A	G	2: 89,363,009	V140A	probably benign	Het
Olfr376	T	A	11: 73,375,601	V287E	probably damaging	Het
Olfr870	T	A	9: 20,171,409	H54L	possibly damaging	Het
P4ha1	A	G	10: 59,371,037	E523G	probably damaging	Het
Per3	T	A	4: 151,018,885	Y530F	probably damaging	Het
Pes1	C	A	11: 3,969,524	L66I	probably damaging	Het
Pigr	G	A	1: 130,846,662		probably benign	Het
Pkd1l1	A	T	11: 8,836,197		probably benign	Het
Plch1	T	A	3: 63,744,535	K378N	probably damaging	Het
Plxnb1	T	C	9: 109,102,708		probably null	Het
Prkdc	A	G	16: 15,654,817		probably null	Het
Prrc1	G	T	18: 57,381,646	D312Y	probably damaging	Het
Rab3gap2	T	A	1: 185,283,542		probably null	Het
Rgs3	A	G	4: 62,702,147	I537V	probably damaging	Het
Rhobtb2	T	G	14: 69,796,444	D444A	probably damaging	Het
Rnf40	T	C	7: 127,591,784	S314P	probably damaging	Het
Rngtt	T	A	4: 33,500,302	C565*	probably null	Het
Samd3	A	G	10: 26,263,986		probably benign	Het
Sec61a2	A	G	2: 5,873,736		probably benign	Het
Serpina3m	G	A	12: 104,389,322	A83T	probably damaging	Het
Serpinb13	A	T	1: 106,999,026	I251L	possibly damaging	Het
Sez6	C	T	11: 77,972,932	T439I	probably damaging	Het
Shc1	G	A	3: 89,423,542	G91S	probably damaging	Het
Slc26a2	A	G	18: 61,198,578	C594R	possibly damaging	Het
Specc1l	C	T	10: 75,245,604	S278F	probably damaging	Het
Spg11	C	T	2: 122,060,207	V2044M	probably damaging	Het
Stx18	T	A	5: 38,128,039		probably null	Het
Suclg2	T	C	6: 95,589,094		probably benign	Het
Tlr4	A	T	4: 66,839,444	H158L	probably damaging	Het
Tmem131	A	G	1: 36,812,271	V966A	possibly damaging	Het
Tram1l1	T	A	3: 124,321,986	I265N	probably damaging	Het
Trim58	T	A	11: 58,640,667	F67Y	possibly damaging	Het
Ttc19	A	G	11: 62,281,824	Q74R	probably benign	Het
Usp7	T	C	16: 8,698,469	S649G	probably benign	Het
Vmn2r16	A	G	5: 109,339,258	Y115C	possibly damaging	Het
Zfp444	T	C	7: 6,189,555	C191R	probably damaging	Het
Zfp451	A	G	1: 33,782,193	F151L	probably damaging	Het
Zfp451	G	A	1: 33,783,856	P99S	probably benign	Het
Zfp729b	A	T	13: 67,592,233	C648S	probably damaging	Het
Zfp799	A	G	17: 32,821,803	Y58H	probably damaging	Het
Zfp804b	A	G	5: 6,769,748	V1069A	probably benign	Het
Zfp938	C	T	10: 82,225,547	G413D	probably damaging	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
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
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'- TGTTGGAATCTCCCACTGGG -3'
(R):5'- TCCACACTGATGATGGCTATATGC -3'

Sequencing Primer
(F):5'- GGGACATGTTCATGTAGTCACC -3'
(R):5'- ATATGCCCATGTCTCCTGGGG -3'

Posted On

2014-07-14