Mutagenetix > Incidental Mutation

Incidental Mutation 'R0019:Irs1'

19054

Institutional Source

Beutler Lab

Gene Symbol

Irs1

Ensembl Gene

ENSMUSG00000055980

Gene Name

insulin receptor substrate 1

Synonyms

G972R, IRS-1

MMRRC Submission

038314-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.622) question?

Stock #

R0019 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

82233101-82291416 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 82287256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1080 (K1080*)

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: K1080*

SMART Domains

Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: K1080*

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

0.9754

Coding Region Coverage

1x: 83.5%
3x: 78.2%
10x: 64.4%
20x: 48.4%

Validation Efficiency

91% (93/102)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13a	T	A	5: 114,786,081		probably benign	Het
Arhgef12	A	T	9: 42,978,233	W1029R	probably damaging	Het
Aunip	T	A	4: 134,523,512	L256*	probably null	Het
Bahcc1	T	A	11: 120,289,771	M2607K	probably damaging	Het
Cacng6	G	T	7: 3,431,868	M152I	possibly damaging	Het
Cep120	A	G	18: 53,709,047		probably benign	Het
D130043K22Rik	T	A	13: 24,880,812	V737D	probably damaging	Het
Dock10	A	G	1: 80,605,925	S187P	probably damaging	Het
Eogt	C	T	6: 97,134,273		probably benign	Het
Fasn	A	T	11: 120,807,998		probably benign	Het
Frem2	C	T	3: 53,523,678	V2745M	probably damaging	Het
Fshb	T	C	2: 107,057,345	S110G	probably benign	Het
Gpi1	A	G	7: 34,220,899	Y144H	probably damaging	Het
Gsap	T	C	5: 21,270,622		probably benign	Het
Helz2	C	A	2: 181,232,759	G1981C	probably damaging	Het
Herc3	T	C	6: 58,885,065		probably benign	Het
Il1r2	C	T	1: 40,125,050	T359M	probably damaging	Het
Il6st	T	C	13: 112,501,148	C563R	possibly damaging	Het
Itpr1	T	C	6: 108,354,626	V182A	probably damaging	Het
Kalrn	C	T	16: 34,198,514		probably benign	Het
Kcnj11	G	A	7: 46,098,939	A320V	probably benign	Het
Lrig1	T	A	6: 94,607,349	R905*	probably null	Het
Lrrc43	T	C	5: 123,501,315	L469P	probably damaging	Het
Med29	A	T	7: 28,391,076		probably benign	Het
Mroh7	T	C	4: 106,721,426	I18M	probably benign	Het
Nalcn	A	C	14: 123,507,489	C376G	probably benign	Het
Ncor2	C	T	5: 125,119,481		probably null	Het
Nek1	T	A	8: 61,089,734	M786K	probably benign	Het
Nrxn2	A	G	19: 6,509,957		probably benign	Het
Nxpe2	T	C	9: 48,319,780	I430V	probably benign	Het
Pcolce2	A	G	9: 95,694,964		probably null	Het
Pdcl	A	T	2: 37,351,920	L273M	probably damaging	Het
Pml	A	T	9: 58,220,493	S610R	probably damaging	Het
Polk	C	A	13: 96,504,616	R144S	probably damaging	Het
Rlf	A	G	4: 121,146,572	V1737A	possibly damaging	Het
Rubcnl	T	A	14: 75,048,263		probably benign	Het
Scn3a	A	T	2: 65,461,701	V1567E	probably damaging	Het
Scyl2	A	G	10: 89,659,321	I296T	probably benign	Het
Slc15a3	A	G	19: 10,856,040	I474V	probably damaging	Het
Sstr1	T	C	12: 58,213,149	L186S	probably damaging	Het
Tmem108	A	T	9: 103,489,340	V484D	possibly damaging	Het
Trim69	A	T	2: 122,174,477		probably null	Het
Trim80	T	G	11: 115,447,942	Y533D	probably damaging	Het
Uhrf1bp1l	A	G	10: 89,775,969	T5A	probably damaging	Het
Unc13b	T	C	4: 43,096,990	I121T	possibly damaging	Het
Usp40	T	C	1: 87,978,411	T701A	probably benign	Het
Xpr1	A	G	1: 155,332,399		probably benign	Het
Ywhab	T	A	2: 164,016,170	I219N	probably damaging	Het
Zfp219	G	T	14: 52,009,028	T169K	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
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
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

Posted On

2013-03-25