Mutagenetix > Incidental Mutation

Incidental Mutation 'R1653:Irs3'

188847

Institutional Source

Beutler Lab

Gene Symbol

Irs3

Ensembl Gene

ENSMUSG00000047182

Gene Name

insulin receptor substrate 3

Synonyms

MMRRC Submission

039689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1653 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

137643031-137645714 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 137644521 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 218 (L218F)

Ref Sequence

ENSEMBL: ENSMUSP00000142730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031734] [ENSMUST00000057314] [ENSMUST00000166099] [ENSMUST00000175968] [ENSMUST00000176667] [ENSMUST00000177466] [ENSMUST00000196511] [ENSMUST00000177545]

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: L218F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060844
Gene: ENSMUSG00000047182
AA Change: L218F

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

probably benign
Transcript: ENSMUST00000175968

SMART Domains

Protein: ENSMUSP00000134767
Gene: ENSMUSG00000093445

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
LRR	36	58	4.84e1	SMART
LRR_TYP	59	82	4.61e-5	SMART
LRR	104	126	2.63e0	SMART
LRR_TYP	127	150	1.1e-2	SMART
LRR	172	195	3.98e1	SMART
low complexity region	335	351	N/A	INTRINSIC
low complexity region	386	399	N/A	INTRINSIC
low complexity region	420	425	N/A	INTRINSIC
low complexity region	456	476	N/A	INTRINSIC
CH	479	588	9.24e-15	SMART
transmembrane domain	602	624	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000176768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177354

Predicted Effect

probably benign
Transcript: ENSMUST00000177466

Predicted Effect

probably damaging
Transcript: ENSMUST00000196511
AA Change: L218F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142730
Gene: ENSMUSG00000047182
AA Change: L218F

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: 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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	G	T	7: 127,384,480 (GRCm38)	H483Q	possibly damaging	Het
Adam34	A	T	8: 43,650,645 (GRCm38)	C654*	probably null	Het
Adamts19	T	A	18: 58,890,293 (GRCm38)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,101,503 (GRCm38)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,346,831 (GRCm38)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,935,624 (GRCm38)	I198V	probably benign	Het
Bcan	T	A	3: 87,994,196 (GRCm38)	I400F	probably damaging	Het
Capn10	A	G	1: 92,946,898 (GRCm38)	Y617C	probably damaging	Het
Capn8	A	G	1: 182,623,951 (GRCm38)	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134 (GRCm38)	L309P	probably benign	Het
Ccser1	T	A	6: 61,311,465 (GRCm38)	I204K	probably benign	Het
Cd276	T	C	9: 58,537,449 (GRCm38)	T80A	probably benign	Het
Cdh3	T	C	8: 106,539,068 (GRCm38)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,413,520 (GRCm38)	T659A	possibly damaging	Het
Col6a4	C	T	9: 106,072,409 (GRCm38)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,286,468 (GRCm38)	V575D	probably damaging	Het
Ep400	G	A	5: 110,693,174 (GRCm38)	Q1795*	probably null	Het
Gcnt3	A	G	9: 70,035,077 (GRCm38)	C70R	probably damaging	Het
Gm12258	T	C	11: 58,858,287 (GRCm38)	I96T	possibly damaging	Het
Gpr183	A	G	14: 121,954,263 (GRCm38)	F282S	probably damaging	Het
Igfals	T	C	17: 24,881,078 (GRCm38)	V381A	probably benign	Het
Kdm5b	T	C	1: 134,602,481 (GRCm38)	F410S	probably damaging	Het
Klc4	T	C	17: 46,631,859 (GRCm38)	Y593C	possibly damaging	Het
Lce1h	T	A	3: 92,763,443 (GRCm38)	Q134L	unknown	Het
Lyst	T	C	13: 13,635,226 (GRCm38)	S494P	probably damaging	Het
March3	A	G	18: 56,811,895 (GRCm38)	M42T	probably benign	Het
Myh7	A	G	14: 54,990,789 (GRCm38)	I250T	probably benign	Het
N4bp1	G	T	8: 86,844,948 (GRCm38)	H807Q	probably benign	Het
Ndn	C	T	7: 62,348,508 (GRCm38)	P34L	probably benign	Het
Nfs1	C	T	2: 156,125,336 (GRCm38)	G44D	probably damaging	Het
Nrg1	C	T	8: 31,818,653 (GRCm38)	R445H	probably damaging	Het
Olfr1507	A	T	14: 52,490,772 (GRCm38)	F64Y	probably damaging	Het
Olfr299	T	C	7: 86,466,212 (GRCm38)	V267A	probably benign	Het
Olfr683	T	A	7: 105,143,870 (GRCm38)	D141V	possibly damaging	Het
Pak7	C	T	2: 136,116,887 (GRCm38)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,888,995 (GRCm38)		probably null	Het
Sin3b	G	T	8: 72,741,519 (GRCm38)	V290L	probably benign	Het
Sirt1	T	C	10: 63,321,809 (GRCm38)	T609A	probably benign	Het
Skint5	A	T	4: 113,490,678 (GRCm38)	S1289T	unknown	Het
Slc32a1	A	T	2: 158,614,889 (GRCm38)	H488L	probably benign	Het
Slc35b3	A	G	13: 38,955,798 (GRCm38)	S18P	probably benign	Het
Spaca7	T	A	8: 12,586,501 (GRCm38)	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,080,527 (GRCm38)	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 89,107,442 (GRCm38)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,272 (GRCm38)	L1117*	probably null	Het
Wdcp	T	C	12: 4,851,815 (GRCm38)	L557P	probably damaging	Het
Wwp2	T	C	8: 107,483,410 (GRCm38)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,389,924 (GRCm38)	R467H	possibly damaging	Het
Zfp839	T	A	12: 110,855,250 (GRCm38)	M166K	probably benign	Het
Zfyve9	G	A	4: 108,660,577 (GRCm38)	Q1106*	probably null	Het
Zrsr1	T	A	11: 22,974,158 (GRCm38)	C311S	probably damaging	Het

Other mutations in Irs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Irs3	APN	5	137,645,319 (GRCm38)	missense	probably damaging	1.00
R0412:Irs3	UTSW	5	137,643,877 (GRCm38)	missense	probably benign	0.04
R0544:Irs3	UTSW	5	137,643,839 (GRCm38)	missense	probably benign	0.00
R1316:Irs3	UTSW	5	137,644,441 (GRCm38)	missense	probably damaging	1.00
R2158:Irs3	UTSW	5	137,644,699 (GRCm38)	missense	probably damaging	1.00
R3115:Irs3	UTSW	5	137,643,856 (GRCm38)	missense	probably benign	0.01
R4746:Irs3	UTSW	5	137,643,947 (GRCm38)	missense	probably benign
R4971:Irs3	UTSW	5	137,644,492 (GRCm38)	missense	probably damaging	1.00
R5304:Irs3	UTSW	5	137,644,741 (GRCm38)	missense	probably benign
R5834:Irs3	UTSW	5	137,644,559 (GRCm38)	missense	probably damaging	1.00
R5844:Irs3	UTSW	5	137,644,286 (GRCm38)	missense	probably benign
R6770:Irs3	UTSW	5	137,645,213 (GRCm38)	missense	possibly damaging	0.86
R7003:Irs3	UTSW	5	137,645,277 (GRCm38)	missense	probably benign	0.32
R9308:Irs3	UTSW	5	137,644,081 (GRCm38)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CATCCTTTCCAGGGGCTTGAAGTAG -3'
(R):5'- CGGTGACTTGCCAATTCTCTCCAG -3'

Sequencing Primer
(F):5'- TGGCTCAGCTTTGCCAG -3'
(R):5'- CAGGTTTCAGTCCCCAAGAG -3'

Posted On

2014-05-09