Mutagenetix > Incidental Mutation

Incidental Mutation 'R3115:Irs3'

263965

Institutional Source

Beutler Lab

Gene Symbol

Irs3

Ensembl Gene

ENSMUSG00000047182

Gene Name

insulin receptor substrate 3

Synonyms

MMRRC Submission

040588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137641294-137643976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137642118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 440 (L440P)

Ref Sequence

ENSEMBL: ENSMUSP00000060844 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000057314
AA Change: L440P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000060844
Gene: ENSMUSG00000047182
AA Change: L440P

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

noncoding transcript
Transcript: ENSMUST00000177354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177038

Predicted Effect

probably benign
Transcript: ENSMUST00000196511

SMART Domains

Protein: ENSMUSP00000142730
Gene: ENSMUSG00000047182

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: ENSMUST00000176871

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 benign
Transcript: ENSMUST00000176768

Predicted Effect

probably benign
Transcript: ENSMUST00000177466

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

96% (47/49)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,266,653 (GRCm39)		probably null	Het
Abcc9	T	C	6: 142,634,755 (GRCm39)	T170A	probably benign	Het
Agbl2	T	C	2: 90,636,245 (GRCm39)	S594P	possibly damaging	Het
Aoc1l3	A	G	6: 48,964,331 (GRCm39)	Y113C	probably damaging	Het
Atf7	C	T	15: 102,442,858 (GRCm39)	S417N	probably benign	Het
Cacng7	T	C	7: 3,387,450 (GRCm39)	V111A	probably benign	Het
Chrm4	A	G	2: 91,757,705 (GRCm39)	T38A	probably benign	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Dcx	A	G	X: 142,706,105 (GRCm39)	Y229H	probably damaging	Het
Espl1	T	A	15: 102,231,639 (GRCm39)	F1945Y	possibly damaging	Het
Glul	T	C	1: 153,783,038 (GRCm39)	F204L	possibly damaging	Het
Grm2	A	G	9: 106,524,822 (GRCm39)	V631A	probably damaging	Het
Ifi205	T	A	1: 173,855,901 (GRCm39)	Y43F	possibly damaging	Het
Itpr1	A	G	6: 108,383,070 (GRCm39)	D1466G	possibly damaging	Het
Jarid2	T	C	13: 45,049,942 (GRCm39)	S257P	probably damaging	Het
Knl1	C	A	2: 118,900,872 (GRCm39)	L858M	possibly damaging	Het
Krt24	T	A	11: 99,173,262 (GRCm39)	T298S	possibly damaging	Het
Lrriq1	C	T	10: 103,006,294 (GRCm39)	R1277Q	probably benign	Het
Mgp	A	C	6: 136,849,683 (GRCm39)	Y92D	probably damaging	Het
Micu3	A	G	8: 40,835,208 (GRCm39)	H521R	probably benign	Het
Mier3	T	A	13: 111,843,182 (GRCm39)	I178N	probably damaging	Het
Moxd1	G	T	10: 24,177,429 (GRCm39)	E582*	probably null	Het
Mprip	T	A	11: 59,656,229 (GRCm39)		probably null	Het
Mybph	A	G	1: 134,122,476 (GRCm39)	I174V	probably benign	Het
Mynn	C	T	3: 30,661,959 (GRCm39)	T347M	probably damaging	Het
Nhsl1	A	T	10: 18,400,916 (GRCm39)	Q714L	probably damaging	Het
Nr1d2	A	T	14: 18,215,504 (GRCm38)		probably null	Het
Or10g3	T	C	14: 52,610,397 (GRCm39)	T38A	probably damaging	Het
Or2a5	T	C	6: 42,873,784 (GRCm39)	V133A	probably benign	Het
Or52h9	C	A	7: 104,202,295 (GRCm39)	H56Q	probably benign	Het
Or5p61	T	C	7: 107,759,029 (GRCm39)	E17G	probably benign	Het
Pcdha4	T	C	18: 37,086,603 (GRCm39)	V262A	probably benign	Het
Pde4d	T	A	13: 110,084,792 (GRCm39)	M519K	probably damaging	Het
Phactr2	C	A	10: 13,137,645 (GRCm39)	E166*	probably null	Het
Prdx4	C	T	X: 154,113,407 (GRCm39)	R167Q	probably damaging	Het
Prkdc	C	T	16: 15,482,222 (GRCm39)	L422F	probably benign	Het
Prph	T	A	15: 98,953,337 (GRCm39)	F84I	probably damaging	Het
Rnmt	A	G	18: 68,447,079 (GRCm39)	E321G	probably benign	Het
Serpinb13	A	T	1: 106,910,568 (GRCm39)	E64V	probably null	Het
Slc12a4	A	T	8: 106,686,091 (GRCm39)	S81T	probably damaging	Het
Slc47a1	A	G	11: 61,258,506 (GRCm39)	L179P	possibly damaging	Het
Sp140l2	C	G	1: 85,235,106 (GRCm39)		probably benign	Het
Spata31e5	A	C	1: 28,815,410 (GRCm39)	V874G	possibly damaging	Het
Sycp2l	C	A	13: 41,302,274 (GRCm39)	T456K	probably benign	Het
Tenm2	A	G	11: 35,914,193 (GRCm39)	L2447P	probably damaging	Het
Tll1	A	G	8: 64,506,900 (GRCm39)	C614R	probably damaging	Het
Usp5	T	C	6: 124,792,560 (GRCm39)	Y826C	probably damaging	Het
Vmn2r71	A	C	7: 85,272,866 (GRCm39)	D560A	probably damaging	Het
Wdr91	A	G	6: 34,882,522 (GRCm39)	L209P	probably damaging	Het
Zfp511	T	A	7: 139,616,504 (GRCm39)	D46E	probably benign	Het
Zfp81	C	T	17: 33,553,537 (GRCm39)	A426T	possibly damaging	Het
Zscan22	T	C	7: 12,641,217 (GRCm39)	I328T	probably benign	Het

Other mutations in Irs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Irs3	APN	5	137,643,581 (GRCm39)	missense	probably damaging	1.00
R0412:Irs3	UTSW	5	137,642,139 (GRCm39)	missense	probably benign	0.04
R0544:Irs3	UTSW	5	137,642,101 (GRCm39)	missense	probably benign	0.00
R1316:Irs3	UTSW	5	137,642,703 (GRCm39)	missense	probably damaging	1.00
R1653:Irs3	UTSW	5	137,642,783 (GRCm39)	missense	probably damaging	1.00
R2158:Irs3	UTSW	5	137,642,961 (GRCm39)	missense	probably damaging	1.00
R4746:Irs3	UTSW	5	137,642,209 (GRCm39)	missense	probably benign
R4971:Irs3	UTSW	5	137,642,754 (GRCm39)	missense	probably damaging	1.00
R5304:Irs3	UTSW	5	137,643,003 (GRCm39)	missense	probably benign
R5834:Irs3	UTSW	5	137,642,821 (GRCm39)	missense	probably damaging	1.00
R5844:Irs3	UTSW	5	137,642,548 (GRCm39)	missense	probably benign
R6770:Irs3	UTSW	5	137,643,475 (GRCm39)	missense	possibly damaging	0.86
R7003:Irs3	UTSW	5	137,643,539 (GRCm39)	missense	probably benign	0.32
R9308:Irs3	UTSW	5	137,642,343 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGCTGAACAGTACTAAGGTCTCTTC -3'
(R):5'- AGCAGCTCGAGGATTGTGAG -3'

Sequencing Primer
(F):5'- TGACTACCTCCCAAAAGTTCTAG -3'
(R):5'- CTCGAGGATTGTGAGAGCAC -3'

Posted On

2015-02-05