Mutagenetix > Incidental Mutation

Incidental Mutation 'R6563:Irs1'

522513

Institutional Source

Beutler Lab

Gene Symbol

Irs1

Ensembl Gene

ENSMUSG00000055980

Gene Name

insulin receptor substrate 1

Synonyms

G972R, IRS-1

MMRRC Submission

044687-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.558) question?

Stock #

R6563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82210822-82269137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82266128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 696 (N696I)

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: N696I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: N696I

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

0.2989

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (39/39)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap11a	A	T	2: 113,664,247 (GRCm39)	C679S	probably benign	Het
Atg4d	C	T	9: 21,179,756 (GRCm39)	L235F	possibly damaging	Het
Cyp2d22	A	T	15: 82,256,113 (GRCm39)	W174R	probably damaging	Het
Cyp4a14	T	A	4: 115,349,283 (GRCm39)	H259L	probably benign	Het
Dennd3	A	T	15: 73,416,229 (GRCm39)	H493L	probably damaging	Het
Dnm1	T	A	2: 32,202,738 (GRCm39)	D759V	probably damaging	Het
Dvl1	T	A	4: 155,940,710 (GRCm39)	N443K	probably damaging	Het
Dync2h1	A	G	9: 7,120,819 (GRCm39)	V2156A	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ermp1	T	C	19: 29,601,178 (GRCm39)	D523G	probably damaging	Het
Fam83c	A	G	2: 155,672,872 (GRCm39)	V295A	probably damaging	Het
Gphn	T	C	12: 78,727,170 (GRCm39)		probably null	Het
Kmt5c	A	G	7: 4,745,628 (GRCm39)	Y96C	probably damaging	Het
Krt77	G	T	15: 101,771,358 (GRCm39)	T315N	probably damaging	Het
L3mbtl3	A	C	10: 26,178,761 (GRCm39)		probably null	Het
Lama3	A	T	18: 12,670,823 (GRCm39)	Y2409F	probably damaging	Het
Lrrc9	A	G	12: 72,533,169 (GRCm39)		probably null	Het
Ltbp4	A	T	7: 27,008,488 (GRCm39)	N1273K	probably damaging	Het
Mfsd13b	G	A	7: 120,594,690 (GRCm39)	A321T	probably damaging	Het
Mvb12b	A	T	2: 33,715,128 (GRCm39)	H167Q	probably benign	Het
Myo1g	T	A	11: 6,467,146 (GRCm39)	N230Y	possibly damaging	Het
Or7a41	A	T	10: 78,871,051 (GRCm39)	R140S	possibly damaging	Het
Prkar2b	G	T	12: 32,043,785 (GRCm39)		probably null	Het
Pwwp2a	G	T	11: 43,596,592 (GRCm39)	A586S	possibly damaging	Het
Ryr1	A	G	7: 28,794,917 (GRCm39)	V1150A	possibly damaging	Het
Sh3bgr	A	G	16: 96,007,143 (GRCm39)		probably null	Het
Slk	T	C	19: 47,624,908 (GRCm39)		probably null	Het
Snx3	A	G	10: 42,402,032 (GRCm39)	E82G	possibly damaging	Het
Spring1	T	C	5: 118,397,047 (GRCm39)	V92A	possibly damaging	Het
Srcin1	A	T	11: 97,425,600 (GRCm39)	Y486N	possibly damaging	Het
Tecpr2	A	G	12: 110,895,521 (GRCm39)	E336G	probably benign	Het
Terf2ip	G	T	8: 112,744,834 (GRCm39)	V384F	probably damaging	Het
Tnn	T	A	1: 159,915,968 (GRCm39)	S1250C	probably damaging	Het
Tspoap1	A	G	11: 87,667,985 (GRCm39)	E1263G	possibly damaging	Het
Tubgcp5	A	G	7: 55,475,409 (GRCm39)	R932G	possibly damaging	Het
Utp25	C	A	1: 192,800,698 (GRCm39)	R374L	probably damaging	Het
Vmn1r175	A	G	7: 23,508,030 (GRCm39)	I199T	possibly damaging	Het
Vmn1r225	C	T	17: 20,722,763 (GRCm39)	A68V	probably benign	Het
Vmn2r24	A	T	6: 123,781,137 (GRCm39)	N448Y	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
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
R8288:Irs1	UTSW	1	82,265,682 (GRCm39)	nonsense	probably null
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'- GCTTAAAGGACCTTGGCAATGAG -3'
(R):5'- GAGCCCCAAGAGTGTATCTG -3'

Sequencing Primer
(F):5'- TAAGAGAGGACCGGCTTGTGC -3'
(R):5'- AGAGTGTATCTGCCCCACAGC -3'

Posted On

2018-06-06