Incidental Mutation 'R2846:Irs4'
ID 251645
Institutional Source Beutler Lab
Gene Symbol Irs4
Ensembl Gene ENSMUSG00000054667
Gene Name insulin receptor substrate 4
Synonyms IRS-4
MMRRC Submission 040439-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R2846 (G1)
Quality Score 225
Status Not validated
Chromosome X
Chromosomal Location 140493994-140508213 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 140507336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 287 (G287W)
Ref Sequence ENSEMBL: ENSMUSP00000067085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067841]
AlphaFold Q9Z0Y7
Predicted Effect probably damaging
Transcript: ENSMUST00000067841
AA Change: G287W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067085
Gene: ENSMUSG00000054667
AA Change: G287W

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg4a G A X: 139,893,589 (GRCm39) E106K probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Cdnf T A 2: 3,514,165 (GRCm39) M1K probably null Het
Ddx4 T A 13: 112,741,146 (GRCm39) K496M probably damaging Het
Dlg1 T C 16: 31,682,015 (GRCm39) S779P probably damaging Het
Dtna T A 18: 23,784,560 (GRCm39) probably null Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Gal3st2c A T 1: 93,924,122 (GRCm39) Q8L possibly damaging Het
Hsd3b1 T C 3: 98,760,094 (GRCm39) E299G probably damaging Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Kif21a T C 15: 90,818,667 (GRCm39) I1570V probably benign Het
Kremen1 GG GGGCG 11: 5,151,793 (GRCm39) probably benign Het
Mark2 T C 19: 7,264,227 (GRCm39) E116G probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mindy4 T C 6: 55,255,085 (GRCm39) V521A probably damaging Het
Or10al3 T C 17: 38,011,714 (GRCm39) I51T probably damaging Het
Or1e25 A T 11: 73,494,209 (GRCm39) T268S probably benign Het
Pdgfrb C T 18: 61,197,088 (GRCm39) P175S probably benign Het
Pign C A 1: 105,585,521 (GRCm39) L9F possibly damaging Het
Plekha1 G T 7: 130,510,095 (GRCm39) W280C probably damaging Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Prr12 G C 7: 44,695,436 (GRCm39) S1343R unknown Het
Psmd13 C A 7: 140,477,653 (GRCm39) probably benign Het
Qpct A G 17: 79,378,171 (GRCm39) T114A probably damaging Het
Sec24d A G 3: 123,144,395 (GRCm39) D624G probably damaging Het
Shank2 A G 7: 143,623,792 (GRCm39) Y259C probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Smarcb1 C A 10: 75,733,375 (GRCm39) R332L probably damaging Het
Ssh3 T C 19: 4,315,324 (GRCm39) Y338C probably damaging Het
St18 T A 1: 6,915,811 (GRCm39) C819S probably damaging Het
Tas2r124 A G 6: 132,732,230 (GRCm39) N180D possibly damaging Het
Tgfbr3l A G 8: 4,299,280 (GRCm39) D49G probably damaging Het
Tmem204 G A 17: 25,299,307 (GRCm39) H71Y probably benign Het
Vmn1r212 A G 13: 23,068,262 (GRCm39) S24P probably damaging Het
Vmn2r6 A G 3: 64,464,211 (GRCm39) S208P possibly damaging Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zmiz1 A G 14: 25,646,099 (GRCm39) S259G probably benign Het
Other mutations in Irs4
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0603:Irs4 UTSW X 140,508,071 (GRCm39) missense probably damaging 0.97
R3858:Irs4 UTSW X 140,507,059 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATCTTCTGAGCCAGCCACC -3'
(R):5'- CCTTCTACAAAGATGTGTGGCAG -3'

Sequencing Primer
(F):5'- CCAATACTGATGCTGTAGCTGCG -3'
(R):5'- TGTGGCAGGTAGTAGTGAAACCC -3'
Posted On 2014-12-04