Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01403:Irs3'

79723

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irs3

Ensembl Gene

ENSMUSG00000047182

Gene Name

insulin receptor substrate 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01403

Quality Score

Status

Chromosome

Chromosomal Location

137643031-137645714 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137645319 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 68 (F68L)

Ref Sequence

ENSEMBL: ENSMUSP00000142730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031734] [ENSMUST00000057314] [ENSMUST00000166099] [ENSMUST00000176667] [ENSMUST00000177466] [ENSMUST00000177545] [ENSMUST00000196511]

AlphaFold

O54718

Predicted Effect

probably benign
Transcript: ENSMUST00000031734

SMART Domains

Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
LRR	90	112	4.84e1	SMART
LRR_TYP	113	136	4.61e-5	SMART
LRR	158	180	2.63e0	SMART
LRR_TYP	181	204	1.1e-2	SMART
LRR	226	249	3.98e1	SMART
low complexity region	389	405	N/A	INTRINSIC
low complexity region	440	453	N/A	INTRINSIC
low complexity region	474	479	N/A	INTRINSIC
low complexity region	510	530	N/A	INTRINSIC
CH	533	642	9.24e-15	SMART
transmembrane domain	656	678	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000057314
AA Change: F68L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060844
Gene: ENSMUSG00000047182
AA Change: F68L

Domain	Start	End	E-Value	Type
PH	33	135	4.46e-11	SMART
IRS	159	272	1.18e-30	SMART
PTBI	159	272	7.23e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166099

SMART Domains

Protein: ENSMUSP00000127076
Gene: ENSMUSG00000079165

Domain	Start	End	E-Value	Type
Pfam:SAP25	76	261	1.8e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176256

Predicted Effect

probably benign
Transcript: ENSMUST00000176667

SMART Domains

Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
LRR	90	112	4.84e1	SMART
LRR_TYP	113	136	4.61e-5	SMART
LRR	158	180	2.63e0	SMART
LRR_TYP	181	204	1.1e-2	SMART
LRR	226	249	3.98e1	SMART
low complexity region	389	405	N/A	INTRINSIC
low complexity region	440	453	N/A	INTRINSIC
low complexity region	474	479	N/A	INTRINSIC
low complexity region	510	530	N/A	INTRINSIC
CH	533	648	4.73e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177354

Predicted Effect

probably benign
Transcript: ENSMUST00000177466

Predicted Effect

probably benign
Transcript: ENSMUST00000177545

SMART Domains

Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
LRR	90	112	4.84e1	SMART
LRR_TYP	113	136	4.61e-5	SMART
LRR	158	180	2.63e0	SMART
LRR_TYP	181	204	1.1e-2	SMART
LRR	226	249	3.98e1	SMART
low complexity region	389	405	N/A	INTRINSIC
low complexity region	440	453	N/A	INTRINSIC
low complexity region	474	479	N/A	INTRINSIC
low complexity region	510	530	N/A	INTRINSIC
CH	533	642	9.24e-15	SMART
transmembrane domain	656	678	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000196511
AA Change: F68L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142730
Gene: ENSMUSG00000047182
AA Change: F68L

Domain	Start	End	E-Value	Type
PH	33	135	4.46e-11	SMART
IRS	159	272	1.18e-30	SMART
PTBI	159	272	7.23e-55	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted mutation are viable, fertile and display no detectable abnormalities in growth or glucose homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,229,170		probably benign	Het
Abcb5	A	T	12: 118,872,867	L1103Q	probably damaging	Het
Adam12	T	A	7: 133,919,610	Q605L	probably benign	Het
Adk	A	G	14: 21,234,915	K102R	probably damaging	Het
Afdn	C	T	17: 13,903,870	P1761S	probably damaging	Het
Ascc1	A	G	10: 60,012,458		probably benign	Het
Aspdh	A	G	7: 44,466,559		probably null	Het
Bbx	T	C	16: 50,202,513	I753V	probably benign	Het
Ccdc33	T	C	9: 58,117,385	Y186C	probably damaging	Het
Ccdc78	T	A	17: 25,788,244		probably null	Het
Ckmt1	T	C	2: 121,362,966		probably benign	Het
Csf1r	A	G	18: 61,114,825	T322A	probably benign	Het
Dnah7b	T	C	1: 46,116,300		probably benign	Het
Dr1	A	G	5: 108,269,710	N41D	possibly damaging	Het
Ehmt1	G	A	2: 24,839,626	T633I	possibly damaging	Het
Fgf7	T	A	2: 126,035,940	Y76N	probably damaging	Het
Hmcn1	A	T	1: 150,593,097	W5038R	probably damaging	Het
Ighv14-1	A	G	12: 113,932,242	V21A	probably damaging	Het
Igkv5-37	T	A	6: 69,963,436	I75F	probably damaging	Het
Inhbc	T	A	10: 127,370,099	I100F	probably damaging	Het
Itpr3	T	A	17: 27,118,595	C2460S	probably damaging	Het
Krt34	A	G	11: 100,038,290	C365R	possibly damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Ly6g	A	G	15: 75,158,648	N82S	probably damaging	Het
Mrpl58	A	T	11: 115,406,578	I72F	probably damaging	Het
Myo9a	G	A	9: 59,871,563	R1534H	probably damaging	Het
Npat	T	A	9: 53,555,129	F239L	probably benign	Het
Nsd2	A	G	5: 33,885,378		probably benign	Het
Nuggc	T	C	14: 65,623,186	V427A	probably benign	Het
Olfr476	A	G	7: 107,967,621	T75A	possibly damaging	Het
Olfr690	G	A	7: 105,329,398	R265C	probably benign	Het
Pde4a	A	T	9: 21,205,116	I467F	probably damaging	Het
Pkhd1l1	T	A	15: 44,483,833	C198*	probably null	Het
Pla2r1	A	G	2: 60,424,288	V1312A	probably damaging	Het
Pola2	T	C	19: 5,959,093	H79R	probably benign	Het
Pramef20	A	T	4: 144,377,133	M141K	probably benign	Het
Psen2	A	T	1: 180,234,983		probably benign	Het
Rnf213	A	G	11: 119,443,300	K3112E	probably damaging	Het
Slc6a4	G	T	11: 77,031,672	V630L	probably benign	Het
Smg1	A	T	7: 118,158,132		probably benign	Het
Tmc8	A	G	11: 117,791,074	T510A	possibly damaging	Het
Usp18	T	A	6: 121,268,668	H334Q	possibly damaging	Het
Vmn2r103	T	C	17: 19,792,967	Y117H	probably benign	Het
Vps13b	T	A	15: 35,709,479	D1857E	probably benign	Het

Other mutations in Irs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0412:Irs3	UTSW	5	137643877	missense	probably benign	0.04
R0544:Irs3	UTSW	5	137643839	missense	probably benign	0.00
R1316:Irs3	UTSW	5	137644441	missense	probably damaging	1.00
R1653:Irs3	UTSW	5	137644521	missense	probably damaging	1.00
R2158:Irs3	UTSW	5	137644699	missense	probably damaging	1.00
R3115:Irs3	UTSW	5	137643856	missense	probably benign	0.01
R4746:Irs3	UTSW	5	137643947	missense	probably benign
R4971:Irs3	UTSW	5	137644492	missense	probably damaging	1.00
R5304:Irs3	UTSW	5	137644741	missense	probably benign
R5834:Irs3	UTSW	5	137644559	missense	probably damaging	1.00
R5844:Irs3	UTSW	5	137644286	missense	probably benign
R6770:Irs3	UTSW	5	137645213	missense	possibly damaging	0.86
R7003:Irs3	UTSW	5	137645277	missense	probably benign	0.32
R9308:Irs3	UTSW	5	137644081	missense	possibly damaging	0.92

Posted On

2013-11-05