Mutagenetix > Incidental Mutation

Incidental Mutation 'R8159:Irs1'

633414

Institutional Source

Beutler Lab

Gene Symbol

Irs1

Ensembl Gene

ENSMUSG00000055980

Gene Name

insulin receptor substrate 1

Synonyms

G972R, IRS-1

MMRRC Submission

067585-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R8159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82233101-82291416 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 82288569 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 642 (I642S)

Ref Sequence

ENSEMBL: ENSMUSP00000063795 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000069799
AA Change: I642S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: I642S

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

100% (49/49)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	C	T	16: 14,472,930	T1468I	probably damaging	Het
Adrb3	A	C	8: 27,228,071	C117G	probably benign	Het
Aff4	A	T	11: 53,411,894	S1065C	possibly damaging	Het
Agrn	G	A	4: 156,172,368	A1260V	probably benign	Het
Auts2	A	G	5: 131,460,125		probably null	Het
BC005537	T	A	13: 24,809,933	H159Q	probably benign	Het
C130079G13Rik	C	A	3: 59,936,422	P179Q	probably damaging	Het
Cacna2d4	A	G	6: 119,297,527	D625G	probably benign	Het
Cd72	A	G	4: 43,450,174	Y245H	probably damaging	Het
Ceacam20	G	T	7: 19,976,184	V378L	probably damaging	Het
Chpf	C	T	1: 75,478,792	R105K	probably null	Het
Chst9	A	T	18: 15,452,308	Y399*	probably null	Het
Cntn5	A	G	9: 10,145,381	I108T	possibly damaging	Het
Col14a1	A	G	15: 55,427,928	T931A	unknown	Het
D630045J12Rik	T	C	6: 38,128,475	H1890R	probably damaging	Het
Dkk2	T	C	3: 132,174,978	I128T	probably benign	Het
Ece2	C	T	16: 20,611,784	P54S	probably damaging	Het
Fam160b1	T	C	19: 57,384,265		probably null	Het
Fry	A	T	5: 150,399,533	T1050S	probably benign	Het
Gfra2	A	G	14: 70,895,957	K76E	probably damaging	Het
Gigyf1	A	T	5: 137,522,195	D423V	unknown	Het
Gpr180	G	A	14: 118,153,890	G235R	probably damaging	Het
Herc1	A	G	9: 66,461,721	Q403R	probably null	Het
Hes5	A	G	4: 154,961,045	N17S	probably benign	Het
Insrr	T	A	3: 87,800,428	L59H	probably damaging	Het
Mettl22	T	C	16: 8,488,769	V363A	probably benign	Het
Mpp6	A	T	6: 50,194,547	E392V	probably benign	Het
Notch2	A	G	3: 98,120,922	H983R	possibly damaging	Het
Nynrin	T	G	14: 55,863,130	S126A	probably damaging	Het
Nynrin	A	T	14: 55,865,060	M729L	probably benign	Het
Olfr18	A	C	9: 20,314,719	I67S	possibly damaging	Het
Olfr620	G	A	7: 103,612,140	T71I	possibly damaging	Het
Otof	C	T	5: 30,380,194	G1257D	probably benign	Het
Pcdhgc5	A	G	18: 37,821,122	E483G	probably benign	Het
Phldb2	T	C	16: 45,860,384	E20G	possibly damaging	Het
Ptprz1	A	G	6: 23,001,663	I1251V	probably benign	Het
Rfx2	A	T	17: 56,803,605	M127K	probably benign	Het
Slc9a3	A	G	13: 74,164,288	N668S	probably benign	Het
Smg6	G	A	11: 75,038,639	V965M	probably damaging	Het
Spen	A	T	4: 141,475,003	H2104Q	possibly damaging	Het
Svep1	C	T	4: 58,069,396	E2797K	possibly damaging	Het
Svep1	T	C	4: 58,087,815	S1755G	probably benign	Het
Sycp2	A	C	2: 178,354,977	S1144R	probably damaging	Het
Tsen54	T	A	11: 115,820,978	L407*	probably null	Het
Uba1y	T	A	Y: 828,806	I538K	possibly damaging	Het
Vil1	C	A	1: 74,423,977	H440N	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
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
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'- CACCACTCTCAACAGGAGGTTTG -3'
(R):5'- GAGATGCACCACTTGGAACG -3'

Sequencing Primer
(F):5'- CTCTCAACAGGAGGTTTGGCATG -3'
(R):5'- ACCACTTGGAACGTCGTG -3'

Posted On

2020-07-13