Mutagenetix > Incidental Mutation

Incidental Mutation 'R5844:Irs3'

450583

Institutional Source

Beutler Lab

Gene Symbol

Irs3

Ensembl Gene

ENSMUSG00000047182

Gene Name

insulin receptor substrate 3

Synonyms

MMRRC Submission

044062-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5844 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137641294-137643976 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137642548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 297 (T297A)

Ref Sequence

ENSEMBL: ENSMUSP00000142730 (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: T297A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060844
Gene: ENSMUSG00000047182
AA Change: T297A

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: ENSMUST00000196511
AA Change: T297A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142730
Gene: ENSMUSG00000047182
AA Change: T297A

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

noncoding transcript
Transcript: ENSMUST00000177038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177354

Predicted Effect

probably benign
Transcript: ENSMUST00000176768

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: ENSMUST00000176871

Predicted Effect

probably benign
Transcript: ENSMUST00000177466

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (55/56)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,950,065 (GRCm39)	M1321L	probably benign	Het
Adra1a	C	T	14: 66,965,183 (GRCm39)	T391I	probably benign	Het
Atf7ip	C	A	6: 136,583,812 (GRCm39)	A1281D	probably damaging	Het
BC005624	T	C	2: 30,866,023 (GRCm39)	N141S	probably benign	Het
Catsperg2	A	T	7: 29,397,257 (GRCm39)	L1082Q	possibly damaging	Het
Cavin2	C	T	1: 51,328,998 (GRCm39)	R152C	probably damaging	Het
Ccdc33	C	T	9: 57,940,489 (GRCm39)		probably benign	Het
Cfap43	T	C	19: 47,784,135 (GRCm39)	D466G	probably benign	Het
Cfap46	C	A	7: 139,230,858 (GRCm39)	M923I	probably damaging	Het
Chd1l	T	A	3: 97,479,883 (GRCm39)	K621N	probably benign	Het
Cnksr1	A	G	4: 133,955,575 (GRCm39)		probably benign	Het
Cym	T	C	3: 107,127,080 (GRCm39)	H25R	probably benign	Het
Dagla	T	A	19: 10,248,489 (GRCm39)	D57V	probably damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dse	T	A	10: 34,029,038 (GRCm39)	D684V	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fbxo10	A	T	4: 45,058,760 (GRCm39)	S326T	probably benign	Het
Galntl5	G	T	5: 25,391,091 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,453,232 (GRCm39)	R290G	possibly damaging	Het
Gtpbp3	A	G	8: 71,945,199 (GRCm39)	T425A	probably benign	Het
Hepacam2	A	G	6: 3,476,073 (GRCm39)	I284T	probably damaging	Het
Ifi205	A	C	1: 173,854,258 (GRCm39)		probably null	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Map4k4	T	A	1: 40,039,036 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,697,542 (GRCm39)	S782G	probably benign	Het
Mis18a	G	A	16: 90,523,969 (GRCm39)		silent	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Myom2	G	A	8: 15,181,182 (GRCm39)		probably null	Het
Ntaq1	A	G	15: 58,017,056 (GRCm39)	N157S	probably benign	Het
Or13a1	A	T	6: 116,470,900 (GRCm39)	E110V	probably damaging	Het
Or5g25	A	G	2: 85,478,239 (GRCm39)	V142A	probably benign	Het
Pde3b	C	T	7: 114,108,106 (GRCm39)	T568I	probably benign	Het
Pip4p1	T	C	14: 51,166,499 (GRCm39)	T160A	probably benign	Het
Pkhd1	G	T	1: 20,451,685 (GRCm39)	D2203E	probably benign	Het
Ppp1r36	A	G	12: 76,473,566 (GRCm39)	K66E	possibly damaging	Het
Rfc1	C	A	5: 65,451,130 (GRCm39)	M319I	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Runx1t1	T	C	4: 13,881,068 (GRCm39)	V456A	probably damaging	Het
Rxfp2	A	G	5: 149,966,589 (GRCm39)	K109R	probably benign	Het
Sgo2a	T	G	1: 58,055,556 (GRCm39)	V580G	probably damaging	Het
Skint9	T	C	4: 112,271,080 (GRCm39)	Q110R	probably benign	Het
Slc38a9	A	G	13: 112,868,035 (GRCm39)	Y507C	probably damaging	Het
Smarca4	T	A	9: 21,589,238 (GRCm39)		probably benign	Het
Tmem88	C	G	11: 69,288,504 (GRCm39)	Q138H	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tns3	A	C	11: 8,384,580 (GRCm39)	F1413V	probably damaging	Het
Trpm8	T	C	1: 88,312,433 (GRCm39)	*1105Q	probably null	Het
Zfp853	C	T	5: 143,274,424 (GRCm39)	V399M	unknown	Het
Zim1	T	C	7: 6,681,115 (GRCm39)	R183G	probably benign	Het
Zmiz1	T	C	14: 25,657,354 (GRCm39)	S871P	probably damaging	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
R3115:Irs3	UTSW	5	137,642,118 (GRCm39)	missense	probably benign	0.01
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
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'- GGCGCCATCCACATATAGTC -3'
(R):5'- TTTCTTCCTGGAACTCGGGC -3'

Sequencing Primer
(F):5'- GCCATCCACATATAGTCACCTG -3'
(R):5'- TGGAACTCGGGCGCTCAG -3'

Posted On

2016-12-20