Mutagenetix > Incidental Mutation

Incidental Mutation 'R0603:Irs4'

55575

Institutional Source

Beutler Lab

Gene Symbol

Irs4

Ensembl Gene

ENSMUSG00000054667

Gene Name

insulin receptor substrate 4

Synonyms

IRS-4

MMRRC Submission

038792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R0603 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

140493994-140508213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140508071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 42 (T42A)

Ref Sequence

ENSEMBL: ENSMUSP00000067085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067841]

AlphaFold

Q9Z0Y7

Predicted Effect

probably damaging
Transcript: ENSMUST00000067841
AA Change: T42A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000067085
Gene: ENSMUSG00000054667
AA Change: T42A

Domain	Start	End	E-Value	Type
low complexity region	11	29	N/A	INTRINSIC
low complexity region	63	73	N/A	INTRINSIC
PH	80	202	7.95e-8	SMART
low complexity region	211	230	N/A	INTRINSIC
IRS	232	334	2.16e-33	SMART
PTBI	232	334	2.11e-56	SMART
low complexity region	351	375	N/A	INTRINSIC
low complexity region	397	432	N/A	INTRINSIC
low complexity region	487	584	N/A	INTRINSIC
low complexity region	595	624	N/A	INTRINSIC
low complexity region	720	735	N/A	INTRINSIC
low complexity region	736	751	N/A	INTRINSIC
low complexity region	773	796	N/A	INTRINSIC
low complexity region	1040	1060	N/A	INTRINSIC
low complexity region	1082	1113	N/A	INTRINSIC
low complexity region	1169	1179	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139874

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit a 10% reduction in male adult size, slightly impaired oral glucose tolerance, and decreased reproductive ability. [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
Anapc7	A	G	5: 122,578,233 (GRCm39)	N406S	probably benign	Het
Arhgap4	C	T	X: 72,950,389 (GRCm39)	R54Q	probably damaging	Het
Asb15	T	A	6: 24,556,556 (GRCm39)	I17N	probably damaging	Het
Atp8a1	T	C	5: 67,914,039 (GRCm39)		probably null	Het
Caprin1	A	G	2: 103,627,146 (GRCm39)	V47A	probably benign	Het
Col4a2	T	C	8: 11,464,779 (GRCm39)	V348A	probably benign	Het
Disp2	A	G	2: 118,622,487 (GRCm39)	K1073R	probably damaging	Het
Dmxl2	G	A	9: 54,313,190 (GRCm39)	H1686Y	possibly damaging	Het
Dzank1	C	T	2: 144,353,432 (GRCm39)	V152I	probably benign	Het
Elp1	A	T	4: 56,792,105 (GRCm39)	I221N	possibly damaging	Het
Evl	T	A	12: 108,614,681 (GRCm39)	I25N	probably damaging	Het
Fam117a	A	G	11: 95,271,699 (GRCm39)	K424E	probably damaging	Het
Gm17732	C	T	18: 62,795,823 (GRCm39)		probably benign	Het
Gpr158	T	C	2: 21,820,480 (GRCm39)	I659T	possibly damaging	Het
Hectd4	T	A	5: 121,442,400 (GRCm39)	V1280E	possibly damaging	Het
Kdm4a	C	T	4: 117,999,708 (GRCm39)	V905I	probably damaging	Het
Lmtk3	T	A	7: 45,444,980 (GRCm39)		probably benign	Het
Lsp1	G	A	7: 142,043,115 (GRCm39)	R221H	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mmut	A	T	17: 41,258,057 (GRCm39)	I408F	probably damaging	Het
Nckap1	A	T	2: 80,343,073 (GRCm39)	V942E	probably benign	Het
Neto1	T	A	18: 86,491,785 (GRCm39)	C229S	possibly damaging	Het
Nipal2	A	G	15: 34,650,544 (GRCm39)	I63T	probably damaging	Het
Or11g2	T	C	14: 50,855,967 (GRCm39)	I96T	probably damaging	Het
Or1af1	G	A	2: 37,110,118 (GRCm39)	V206I	probably damaging	Het
Or4k49	A	T	2: 111,495,225 (GRCm39)	Y218F	probably damaging	Het
Or7e165	A	T	9: 19,695,235 (GRCm39)	R269W	probably damaging	Het
Or8g36	C	A	9: 39,422,810 (GRCm39)	V69F	possibly damaging	Het
Pgpep1	T	C	8: 71,103,283 (GRCm39)	E120G	probably benign	Het
Pkhd1	A	T	1: 20,187,397 (GRCm39)	M3637K	probably benign	Het
Pkm	T	C	9: 59,573,164 (GRCm39)	V58A	probably damaging	Het
Ppp2r1b	C	A	9: 50,772,985 (GRCm39)	T154K	probably damaging	Het
Rgs18	T	A	1: 144,631,818 (GRCm39)	D98V	possibly damaging	Het
Rsph6a	G	T	7: 18,799,886 (GRCm39)	A506S	possibly damaging	Het
Selenop	T	A	15: 3,305,183 (GRCm39)	V113E	probably damaging	Het
Slc6a11	G	A	6: 114,221,851 (GRCm39)	V514M	probably benign	Het
Srsf9	C	T	5: 115,470,696 (GRCm39)	S132L	probably damaging	Het
Tchh	G	A	3: 93,351,088 (GRCm39)	R176H	possibly damaging	Het
Tcp11	T	C	17: 28,286,784 (GRCm39)	N405S	probably damaging	Het
Tle1	A	C	4: 72,036,584 (GRCm39)	D760E	probably damaging	Het
Tmem178	A	G	17: 81,252,488 (GRCm39)	D124G	possibly damaging	Het
Trabd	G	A	15: 88,966,929 (GRCm39)	E118K	probably damaging	Het
Ttc39a	A	G	4: 109,283,499 (GRCm39)	D115G	probably damaging	Het
Uaca	T	A	9: 60,778,379 (GRCm39)	M920K	possibly damaging	Het
Uba2	A	T	7: 33,861,038 (GRCm39)	M5K	probably damaging	Het
Unc5c	C	T	3: 141,476,863 (GRCm39)	P343L	probably damaging	Het
Wdhd1	T	C	14: 47,501,043 (GRCm39)	D453G	probably damaging	Het
Wfdc8	A	G	2: 164,445,145 (GRCm39)	Y157H	probably damaging	Het
Zbbx	T	G	3: 74,985,757 (GRCm39)	K432Q	probably benign	Het
Zeb2	G	A	2: 44,907,438 (GRCm39)	T169M	probably benign	Het
Zfp956	A	G	6: 47,932,962 (GRCm39)	E79G	probably damaging	Het
Zzef1	G	A	11: 72,708,895 (GRCm39)	V165I	probably benign	Het

Other mutations in Irs4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Irs4	APN	X	140,505,140 (GRCm39)	missense	unknown
IGL01712:Irs4	APN	X	140,505,395 (GRCm39)	missense	unknown
IGL02366:Irs4	APN	X	140,506,900 (GRCm39)	missense	probably damaging	0.99
IGL03032:Irs4	APN	X	140,505,794 (GRCm39)	missense	unknown
IGL03057:Irs4	APN	X	140,505,524 (GRCm39)	missense	unknown
R2846:Irs4	UTSW	X	140,507,336 (GRCm39)	missense	probably damaging	1.00
R3858:Irs4	UTSW	X	140,507,059 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTAACGCCTATGCCCATGCTTC -3'
(R):5'- TGAACCAAACGCCCTTAGATTCTCC -3'

Sequencing Primer
(F):5'- CTGCTTCCTCAGGTAGCCG -3'
(R):5'- AGATTCTCCCAAAGGGTCTCTG -3'

Posted On

2013-07-11