Mutagenetix > Incidental Mutation

Incidental Mutation 'R2271:Irs1'

242439

Institutional Source

Beutler Lab

Gene Symbol

Irs1

Ensembl Gene

ENSMUSG00000055980

Gene Name

insulin receptor substrate 1

Synonyms

G972R, IRS-1

MMRRC Submission

040271-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.647) question?

Stock #

R2271 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,981,579 (GRCm38)	Q194L	probably damaging	Het
Acsf2	T	A	11: 94,558,873 (GRCm38)	K574*	probably null	Het
Adam22	T	C	5: 8,121,108 (GRCm38)	E614G	probably damaging	Het
Ap4e1	T	C	2: 127,047,163 (GRCm38)		probably null	Het
Arid3c	T	A	4: 41,724,744 (GRCm38)	I364F	probably damaging	Het
Bcan	T	A	3: 87,993,094 (GRCm38)	S611C	probably damaging	Het
Birc6	T	C	17: 74,602,971 (GRCm38)	V1453A	probably benign	Het
Carnmt1	T	C	19: 18,703,370 (GRCm38)	L336P	probably damaging	Het
Ccdc146	C	A	5: 21,399,721 (GRCm38)	D40Y	probably benign	Het
Ccdc83	C	T	7: 90,224,077 (GRCm38)	V357I	probably damaging	Het
Cdh22	A	T	2: 165,143,847 (GRCm38)		probably null	Het
Cdk5rap2	A	C	4: 70,266,678 (GRCm38)	S1178R	probably benign	Het
Cdkl3	T	C	11: 52,032,495 (GRCm38)	V45A	probably benign	Het
Chd7	A	G	4: 8,785,532 (GRCm38)	D612G	probably damaging	Het
Chst11	T	C	10: 83,191,170 (GRCm38)	Y144H	probably damaging	Het
Cops6	A	T	5: 138,161,141 (GRCm38)	N10I	probably benign	Het
Cyfip1	G	T	7: 55,899,957 (GRCm38)	R624L	probably null	Het
Cyp27a1	A	G	1: 74,736,687 (GRCm38)	N344D	probably damaging	Het
Des	T	G	1: 75,363,493 (GRCm38)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,330,883 (GRCm38)	D109V	probably damaging	Het
Disp3	C	T	4: 148,271,602 (GRCm38)	R267Q	possibly damaging	Het
Dnah3	T	A	7: 119,975,129 (GRCm38)	I2136F	probably benign	Het
Dnah9	T	C	11: 66,112,362 (GRCm38)	D872G	probably benign	Het
Dnajb14	G	A	3: 137,885,380 (GRCm38)	G31S	probably benign	Het
Dopey1	T	G	9: 86,494,418 (GRCm38)	V235G	probably damaging	Het
Efcab6	T	A	15: 83,946,999 (GRCm38)	R571S	probably benign	Het
Emsy	T	G	7: 98,626,623 (GRCm38)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,198,888 (GRCm38)	N814S	probably damaging	Het
Fam71e2	T	A	7: 4,758,187 (GRCm38)	T509S	probably benign	Het
Fgfbp1	T	A	5: 43,979,330 (GRCm38)	M207L	probably benign	Het
Filip1	T	C	9: 79,819,930 (GRCm38)	E469G	probably damaging	Het
Garem2	T	G	5: 30,116,974 (GRCm38)	L777R	probably damaging	Het
Gm8394	A	G	10: 85,313,731 (GRCm38)		noncoding transcript	Het
Gm884	T	C	11: 103,614,207 (GRCm38)	T2312A	possibly damaging	Het
Hkdc1	T	C	10: 62,417,898 (GRCm38)	T35A	probably benign	Het
Hps6	C	T	19: 46,005,682 (GRCm38)	A686V	possibly damaging	Het
Ism1	T	A	2: 139,757,373 (GRCm38)	I415N	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,064,088 (GRCm38)		probably null	Het
Kpna1	G	A	16: 36,031,221 (GRCm38)	A392T	probably damaging	Het
Lipa	T	A	19: 34,510,890 (GRCm38)	R119*	probably null	Het
Mocs1	A	T	17: 49,449,109 (GRCm38)	K198M	probably damaging	Het
Mrc2	G	A	11: 105,348,431 (GRCm38)		probably null	Het
Msh5	A	G	17: 35,044,390 (GRCm38)	I154T	probably benign	Het
Muc6	T	A	7: 141,637,510 (GRCm38)	T2417S	possibly damaging	Het
Ncbp2	T	C	16: 31,956,951 (GRCm38)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,008,347 (GRCm38)	R359L	probably benign	Het
Neu3	G	C	7: 99,813,443 (GRCm38)	R358G	probably benign	Het
Ntrk3	A	C	7: 78,516,723 (GRCm38)		probably null	Het
Olfr1045	A	G	2: 86,197,817 (GRCm38)	F312L	probably benign	Het
Olfr351	G	A	2: 36,859,625 (GRCm38)	S241F	probably damaging	Het
Olfr870	T	A	9: 20,171,409 (GRCm38)	H54L	possibly damaging	Het
Pik3c2b	T	C	1: 133,103,428 (GRCm38)	S1491P	probably benign	Het
Plb1	G	T	5: 32,293,242 (GRCm38)	D376Y	probably damaging	Het
Plch1	T	A	3: 63,744,535 (GRCm38)	K378N	probably damaging	Het
Plekhm1	C	T	11: 103,387,122 (GRCm38)	E383K	probably benign	Het
Plxnb1	T	C	9: 109,102,708 (GRCm38)		probably null	Het
Prkdc	A	G	16: 15,654,817 (GRCm38)		probably null	Het
Prpf8	T	A	11: 75,495,363 (GRCm38)	V946E	probably damaging	Het
Ptprh	C	A	7: 4,603,133 (GRCm38)		probably benign	Het
Rngtt	T	A	4: 33,500,302 (GRCm38)	C565*	probably null	Het
Sacs	A	G	14: 61,204,660 (GRCm38)	H1385R	probably benign	Het
Sec24a	A	G	11: 51,716,450 (GRCm38)	S656P	possibly damaging	Het
Serpinb13	A	T	1: 106,999,026 (GRCm38)	I251L	possibly damaging	Het
Shc1	G	A	3: 89,423,542 (GRCm38)	G91S	probably damaging	Het
Sin3b	T	A	8: 72,733,419 (GRCm38)	N211K	probably benign	Het
Slc22a2	A	T	17: 12,586,805 (GRCm38)	M148L	probably benign	Het
Slc3a1	G	A	17: 85,063,792 (GRCm38)	V591I	probably benign	Het
Slc47a2	A	T	11: 61,328,526 (GRCm38)		probably null	Het
Spag17	C	T	3: 100,106,797 (GRCm38)	P2129S	probably damaging	Het
Specc1l	C	T	10: 75,245,604 (GRCm38)	S278F	probably damaging	Het
Sphkap	T	A	1: 83,257,221 (GRCm38)	D1628V	probably damaging	Het
Themis3	C	T	17: 66,555,704 (GRCm38)	V420I	possibly damaging	Het
Ttc39d	A	G	17: 80,217,246 (GRCm38)	K445E	probably damaging	Het
U2surp	T	C	9: 95,491,420 (GRCm38)	E232G	possibly damaging	Het
Usp25	T	A	16: 77,076,429 (GRCm38)	F458L	probably damaging	Het
Usp7	T	C	16: 8,698,469 (GRCm38)	S649G	probably benign	Het
Vmn1r10	A	G	6: 57,114,103 (GRCm38)	T227A	probably damaging	Het
Zcchc12	C	T	X: 36,198,465 (GRCm38)	T345M	possibly damaging	Het
Zfp444	T	C	7: 6,189,555 (GRCm38)	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,592,233 (GRCm38)	C648S	probably damaging	Het
Zfp799	A	G	17: 32,821,803 (GRCm38)	Y58H	probably damaging	Het
Zfp938	C	T	10: 82,225,547 (GRCm38)	G413D	probably damaging	Het

Other mutations in Irs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Irs1	APN	1	82,288,483 (GRCm38)	missense	probably benign	0.01
IGL00534:Irs1	APN	1	82,288,471 (GRCm38)	missense	probably benign
IGL01926:Irs1	APN	1	82,289,959 (GRCm38)	missense	probably damaging	0.98
IGL02130:Irs1	APN	1	82,289,467 (GRCm38)	missense	probably damaging	1.00
IGL03338:Irs1	APN	1	82,288,401 (GRCm38)	missense	probably benign	0.05
Hoverboard	UTSW	1	82,290,098 (GRCm38)	nonsense	probably null
runt	UTSW	1	82,287,732 (GRCm38)	frame shift	probably null
runt2	UTSW	1	82,286,967 (GRCm38)	nonsense	probably null
Sprite	UTSW	1	82,288,109 (GRCm38)	nonsense	probably null
R0019:Irs1	UTSW	1	82,287,256 (GRCm38)	nonsense	probably null
R0063:Irs1	UTSW	1	82,288,859 (GRCm38)	missense	probably damaging	1.00
R0063:Irs1	UTSW	1	82,288,859 (GRCm38)	missense	probably damaging	1.00
R0318:Irs1	UTSW	1	82,288,660 (GRCm38)	missense	probably benign	0.01
R1199:Irs1	UTSW	1	82,289,626 (GRCm38)	missense	probably damaging	1.00
R1363:Irs1	UTSW	1	82,287,288 (GRCm38)	missense	probably benign	0.02
R1584:Irs1	UTSW	1	82,289,444 (GRCm38)	missense	probably benign	0.24
R1874:Irs1	UTSW	1	82,289,853 (GRCm38)	frame shift	probably null
R1903:Irs1	UTSW	1	82,289,461 (GRCm38)	missense	probably damaging	1.00
R1929:Irs1	UTSW	1	82,288,459 (GRCm38)	missense	probably benign
R1986:Irs1	UTSW	1	82,288,765 (GRCm38)	missense	probably damaging	1.00
R2136:Irs1	UTSW	1	82,290,042 (GRCm38)	missense	probably damaging	1.00
R2179:Irs1	UTSW	1	82,290,219 (GRCm38)	missense	possibly damaging	0.81
R2760:Irs1	UTSW	1	82,288,570 (GRCm38)	missense	probably damaging	1.00
R3721:Irs1	UTSW	1	82,290,085 (GRCm38)	missense	probably benign	0.11
R3821:Irs1	UTSW	1	82,290,049 (GRCm38)	missense	probably benign
R4306:Irs1	UTSW	1	82,287,964 (GRCm38)	missense	probably benign	0.11
R4420:Irs1	UTSW	1	82,288,450 (GRCm38)	missense	possibly damaging	0.94
R4451:Irs1	UTSW	1	82,289,028 (GRCm38)	missense	probably benign	0.00
R4479:Irs1	UTSW	1	82,287,294 (GRCm38)	missense	probably damaging	1.00
R4771:Irs1	UTSW	1	82,287,975 (GRCm38)	missense	probably benign	0.00
R4782:Irs1	UTSW	1	82,287,463 (GRCm38)	missense	probably benign	0.00
R4836:Irs1	UTSW	1	82,287,732 (GRCm38)	frame shift	probably null
R4880:Irs1	UTSW	1	82,287,732 (GRCm38)	frame shift	probably null
R4881:Irs1	UTSW	1	82,287,732 (GRCm38)	frame shift	probably null
R5031:Irs1	UTSW	1	82,286,967 (GRCm38)	nonsense	probably null
R5053:Irs1	UTSW	1	82,286,922 (GRCm38)	missense	probably benign
R5418:Irs1	UTSW	1	82,288,770 (GRCm38)	missense	probably damaging	1.00
R5595:Irs1	UTSW	1	82,289,925 (GRCm38)	missense	probably damaging	1.00
R5698:Irs1	UTSW	1	82,288,734 (GRCm38)	missense	probably benign	0.01
R6381:Irs1	UTSW	1	82,287,684 (GRCm38)	missense	possibly damaging	0.66
R6563:Irs1	UTSW	1	82,288,407 (GRCm38)	missense	probably damaging	0.98
R7002:Irs1	UTSW	1	82,288,260 (GRCm38)	missense	probably benign	0.13
R7095:Irs1	UTSW	1	82,290,098 (GRCm38)	nonsense	probably null
R7195:Irs1	UTSW	1	82,287,456 (GRCm38)	missense	probably benign	0.13
R7216:Irs1	UTSW	1	82,289,755 (GRCm38)	missense	probably damaging	0.98
R7361:Irs1	UTSW	1	82,289,114 (GRCm38)	nonsense	probably null
R7490:Irs1	UTSW	1	82,287,264 (GRCm38)	missense	probably damaging	0.99
R7540:Irs1	UTSW	1	82,288,002 (GRCm38)	missense	not run
R7706:Irs1	UTSW	1	82,287,691 (GRCm38)	missense	probably damaging	1.00
R7910:Irs1	UTSW	1	82,290,081 (GRCm38)	missense	probably benign	0.06
R7912:Irs1	UTSW	1	82,289,884 (GRCm38)	missense	probably benign
R7962:Irs1	UTSW	1	82,288,722 (GRCm38)	missense	possibly damaging	0.57
R8139:Irs1	UTSW	1	82,289,739 (GRCm38)	missense	probably damaging	1.00
R8158:Irs1	UTSW	1	82,289,533 (GRCm38)	missense	probably damaging	1.00
R8159:Irs1	UTSW	1	82,288,569 (GRCm38)	missense	probably damaging	1.00
R8187:Irs1	UTSW	1	82,288,300 (GRCm38)	missense	probably damaging	1.00
R8288:Irs1	UTSW	1	82,287,961 (GRCm38)	nonsense	probably null
R8436:Irs1	UTSW	1	82,290,249 (GRCm38)	missense	possibly damaging	0.96
R8865:Irs1	UTSW	1	82,288,109 (GRCm38)	nonsense	probably null
R8950:Irs1	UTSW	1	82,286,931 (GRCm38)	missense	probably benign
R9591:Irs1	UTSW	1	82,288,248 (GRCm38)	missense	probably benign	0.00
X0063:Irs1	UTSW	1	82,288,908 (GRCm38)	missense	probably damaging	1.00
X0065:Irs1	UTSW	1	82,289,365 (GRCm38)	missense	probably damaging	1.00
Z1177:Irs1	UTSW	1	82,290,394 (GRCm38)	missense	probably benign	0.29
Z1177:Irs1	UTSW	1	82,288,996 (GRCm38)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CTGGTGTTGGAATCTCCCAC -3'
(R):5'- CCACACTGATGATGGCTATATGC -3'

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

Posted On

2014-10-16