Mutagenetix > Incidental Mutation

Incidental Mutation 'R8288:Irs1'

638510

Institutional Source

Beutler Lab

Gene Symbol

Irs1

Ensembl Gene

ENSMUSG00000055980

Gene Name

insulin receptor substrate 1

Synonyms

G972R, IRS-1

MMRRC Submission

067710-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.620) question?

Stock #

R8288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82210822-82269137 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 82265682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 845 (Q845*)

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: Q845*

SMART Domains

Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: Q845*

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	C	T	8: 23,283,153 (GRCm39)	A200T	probably benign	Het
Arpp19	T	C	9: 74,944,914 (GRCm39)	M1T	probably null	Het
Baiap2	T	A	11: 119,888,465 (GRCm39)	V407E	probably damaging	Het
Cdh18	A	G	15: 23,446,073 (GRCm39)	T508A	probably damaging	Het
Cnnm3	C	A	1: 36,551,074 (GRCm39)	A28E	possibly damaging	Het
Cpb1	A	T	3: 20,319,531 (GRCm39)	C184*	probably null	Het
Ddb1	T	C	19: 10,585,712 (GRCm39)	V142A	probably benign	Het
Disp2	T	C	2: 118,620,762 (GRCm39)	V498A	probably damaging	Het
Dmgdh	T	C	13: 93,845,332 (GRCm39)	Y442H	probably damaging	Het
Dync2i1	A	G	12: 116,177,345 (GRCm39)	F811S	probably damaging	Het
Eef2k	T	A	7: 120,502,604 (GRCm39)	M722K	probably damaging	Het
Erbb4	A	G	1: 68,337,509 (GRCm39)	F603S	probably damaging	Het
Filip1l	C	T	16: 57,390,917 (GRCm39)	R502C	probably damaging	Het
Gbp9	C	T	5: 105,253,599 (GRCm39)	V39M	probably damaging	Het
Gm17079	T	C	14: 51,931,815 (GRCm39)	Y98C		Het
Gstz1	A	G	12: 87,194,604 (GRCm39)	M1V	probably null	Het
Hsd17b13	T	G	5: 104,111,701 (GRCm39)	I281L	probably benign	Het
Hydin	A	G	8: 111,233,661 (GRCm39)	E1833G	probably damaging	Het
Kctd11	C	T	11: 69,770,883 (GRCm39)	G52R	probably damaging	Het
Kit	T	C	5: 75,815,149 (GRCm39)	S962P	probably damaging	Het
Lrrn1	C	T	6: 107,543,955 (GRCm39)		probably benign	Het
Mastl	T	C	2: 23,023,371 (GRCm39)	K451E	probably damaging	Het
Mptx2	A	G	1: 173,102,356 (GRCm39)	V111A	probably benign	Het
Nuak2	G	T	1: 132,255,579 (GRCm39)	C178F	probably damaging	Het
Pah	G	A	10: 87,374,047 (GRCm39)	R71H	probably benign	Het
Pclo	C	A	5: 14,762,885 (GRCm39)	T501K		Het
Pla2g4e	C	T	2: 120,018,990 (GRCm39)		probably null	Het
Polq	A	G	16: 36,848,272 (GRCm39)	E293G	probably damaging	Het
Rptor	G	A	11: 119,748,763 (GRCm39)	E782K	probably benign	Het
Scn7a	T	A	2: 66,506,318 (GRCm39)	R1524W	probably damaging	Het
Slc4a5	T	C	6: 83,203,237 (GRCm39)	S46P	probably benign	Het
Srcap	T	A	7: 127,130,528 (GRCm39)	I664N	probably damaging	Het
Stk24	A	C	14: 121,530,841 (GRCm39)	F372V	possibly damaging	Het
Szt2	T	C	4: 118,246,973 (GRCm39)	S881G	probably damaging	Het
Trim40	T	C	17: 37,194,210 (GRCm39)	D161G	probably benign	Het
Trip11	T	C	12: 101,860,643 (GRCm39)	H234R	possibly damaging	Het
Trpc1	T	C	9: 95,603,434 (GRCm39)	K366R	probably damaging	Het
Ugt2b35	T	C	5: 87,149,316 (GRCm39)	L189P	probably damaging	Het
Unc80	A	G	1: 66,512,509 (GRCm39)	S140G	probably benign	Het
Zfp446	A	G	7: 12,711,885 (GRCm39)	E36G	probably benign	Het
Zfp738	T	A	13: 67,818,908 (GRCm39)	H361L	possibly damaging	Het

Other mutations in Irs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Irs1	APN	1	82,266,204 (GRCm39)	missense	probably benign	0.01
IGL00534:Irs1	APN	1	82,266,192 (GRCm39)	missense	probably benign
IGL01926:Irs1	APN	1	82,267,680 (GRCm39)	missense	probably damaging	0.98
IGL02130:Irs1	APN	1	82,267,188 (GRCm39)	missense	probably damaging	1.00
IGL03338:Irs1	APN	1	82,266,122 (GRCm39)	missense	probably benign	0.05
Hoverboard	UTSW	1	82,267,819 (GRCm39)	nonsense	probably null
runt	UTSW	1	82,265,453 (GRCm39)	frame shift	probably null
runt2	UTSW	1	82,264,688 (GRCm39)	nonsense	probably null
Sprite	UTSW	1	82,265,830 (GRCm39)	nonsense	probably null
R0019:Irs1	UTSW	1	82,264,977 (GRCm39)	nonsense	probably null
R0063:Irs1	UTSW	1	82,266,580 (GRCm39)	missense	probably damaging	1.00
R0063:Irs1	UTSW	1	82,266,580 (GRCm39)	missense	probably damaging	1.00
R0318:Irs1	UTSW	1	82,266,381 (GRCm39)	missense	probably benign	0.01
R1199:Irs1	UTSW	1	82,267,347 (GRCm39)	missense	probably damaging	1.00
R1363:Irs1	UTSW	1	82,265,009 (GRCm39)	missense	probably benign	0.02
R1584:Irs1	UTSW	1	82,267,165 (GRCm39)	missense	probably benign	0.24
R1874:Irs1	UTSW	1	82,267,574 (GRCm39)	frame shift	probably null
R1903:Irs1	UTSW	1	82,267,182 (GRCm39)	missense	probably damaging	1.00
R1929:Irs1	UTSW	1	82,266,180 (GRCm39)	missense	probably benign
R1986:Irs1	UTSW	1	82,266,486 (GRCm39)	missense	probably damaging	1.00
R2136:Irs1	UTSW	1	82,267,763 (GRCm39)	missense	probably damaging	1.00
R2179:Irs1	UTSW	1	82,267,940 (GRCm39)	missense	possibly damaging	0.81
R2271:Irs1	UTSW	1	82,266,180 (GRCm39)	missense	probably benign
R2760:Irs1	UTSW	1	82,266,291 (GRCm39)	missense	probably damaging	1.00
R3721:Irs1	UTSW	1	82,267,806 (GRCm39)	missense	probably benign	0.11
R3821:Irs1	UTSW	1	82,267,770 (GRCm39)	missense	probably benign
R4306:Irs1	UTSW	1	82,265,685 (GRCm39)	missense	probably benign	0.11
R4420:Irs1	UTSW	1	82,266,171 (GRCm39)	missense	possibly damaging	0.94
R4451:Irs1	UTSW	1	82,266,749 (GRCm39)	missense	probably benign	0.00
R4479:Irs1	UTSW	1	82,265,015 (GRCm39)	missense	probably damaging	1.00
R4771:Irs1	UTSW	1	82,265,696 (GRCm39)	missense	probably benign	0.00
R4782:Irs1	UTSW	1	82,265,184 (GRCm39)	missense	probably benign	0.00
R4836:Irs1	UTSW	1	82,265,453 (GRCm39)	frame shift	probably null
R4880:Irs1	UTSW	1	82,265,453 (GRCm39)	frame shift	probably null
R4881:Irs1	UTSW	1	82,265,453 (GRCm39)	frame shift	probably null
R5031:Irs1	UTSW	1	82,264,688 (GRCm39)	nonsense	probably null
R5053:Irs1	UTSW	1	82,264,643 (GRCm39)	missense	probably benign
R5418:Irs1	UTSW	1	82,266,491 (GRCm39)	missense	probably damaging	1.00
R5595:Irs1	UTSW	1	82,267,646 (GRCm39)	missense	probably damaging	1.00
R5698:Irs1	UTSW	1	82,266,455 (GRCm39)	missense	probably benign	0.01
R6381:Irs1	UTSW	1	82,265,405 (GRCm39)	missense	possibly damaging	0.66
R6563:Irs1	UTSW	1	82,266,128 (GRCm39)	missense	probably damaging	0.98
R7002:Irs1	UTSW	1	82,265,981 (GRCm39)	missense	probably benign	0.13
R7095:Irs1	UTSW	1	82,267,819 (GRCm39)	nonsense	probably null
R7195:Irs1	UTSW	1	82,265,177 (GRCm39)	missense	probably benign	0.13
R7216:Irs1	UTSW	1	82,267,476 (GRCm39)	missense	probably damaging	0.98
R7361:Irs1	UTSW	1	82,266,835 (GRCm39)	nonsense	probably null
R7490:Irs1	UTSW	1	82,264,985 (GRCm39)	missense	probably damaging	0.99
R7540:Irs1	UTSW	1	82,265,723 (GRCm39)	missense	not run
R7706:Irs1	UTSW	1	82,265,412 (GRCm39)	missense	probably damaging	1.00
R7910:Irs1	UTSW	1	82,267,802 (GRCm39)	missense	probably benign	0.06
R7912:Irs1	UTSW	1	82,267,605 (GRCm39)	missense	probably benign
R7962:Irs1	UTSW	1	82,266,443 (GRCm39)	missense	possibly damaging	0.57
R8139:Irs1	UTSW	1	82,267,460 (GRCm39)	missense	probably damaging	1.00
R8158:Irs1	UTSW	1	82,267,254 (GRCm39)	missense	probably damaging	1.00
R8159:Irs1	UTSW	1	82,266,290 (GRCm39)	missense	probably damaging	1.00
R8187:Irs1	UTSW	1	82,266,021 (GRCm39)	missense	probably damaging	1.00
R8436:Irs1	UTSW	1	82,267,970 (GRCm39)	missense	possibly damaging	0.96
R8865:Irs1	UTSW	1	82,265,830 (GRCm39)	nonsense	probably null
R8950:Irs1	UTSW	1	82,264,652 (GRCm39)	missense	probably benign
R9591:Irs1	UTSW	1	82,265,969 (GRCm39)	missense	probably benign	0.00
X0063:Irs1	UTSW	1	82,266,629 (GRCm39)	missense	probably damaging	1.00
X0065:Irs1	UTSW	1	82,267,086 (GRCm39)	missense	probably damaging	1.00
Z1177:Irs1	UTSW	1	82,268,115 (GRCm39)	missense	probably benign	0.29
Z1177:Irs1	UTSW	1	82,266,717 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TGCAGGGCCAGCTAAATAG -3'
(R):5'- GTCCTTTAAGCACACCCAGC -3'

Sequencing Primer
(F):5'- CACATATTCTCCTGGGCTTT -3'
(R):5'- AGGCACCAGCATCTTCGTC -3'

Posted On

2020-07-28