Incidental Mutation 'IGL01391:Areg'
ID79216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Areg
Ensembl Gene ENSMUSG00000029378
Gene Nameamphiregulin
SynonymsAR, Sdgf
Accession Numbers

MGI: 88068; Ncbi RefSeq: NM_009704

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01391
Quality Score
Status
Chromosome5
Chromosomal Location91139599-91148432 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 91141095 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 87 (S87T)
Ref Sequence ENSEMBL: ENSMUSP00000031325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031325]
Predicted Effect probably damaging
Transcript: ENSMUST00000031325
AA Change: S87T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031325
Gene: ENSMUSG00000029378
AA Change: S87T

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
EGF 138 175 7.41e0 SMART
transmembrane domain 193 215 N/A INTRINSIC
low complexity region 222 240 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the epidermal growth factor (EGF) family and preproprotein that is proteolytically processed to generate a mature protein product. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and has been shown to play a role in immunity, inflammation, tissue repair, and lung and mammary gland development. Homozygous knockout mice for this gene exhibit impaired immune system regulation in the skin and gene expression changes characteristic of chronic liver damage. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired development of mammary gland ducts in pubescent females. Mutant ducts show retarded elongation with few terminal end buds. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3m2 T A 8: 22,799,647 I147F probably benign Het
Arid1b T A 17: 5,318,858 probably benign Het
Arl6ip6 A G 2: 53,192,144 R8G probably benign Het
Brms1 A G 19: 5,046,695 E135G possibly damaging Het
Ccser1 A G 6: 61,638,521 probably benign Het
Dock3 A T 9: 106,907,234 M258K possibly damaging Het
Epb41l4a T G 18: 33,801,625 D562A possibly damaging Het
Etaa1 G A 11: 17,946,005 T704I probably damaging Het
Fer1l4 T A 2: 156,036,456 H972L probably damaging Het
Foxn1 A G 11: 78,361,494 M356T probably damaging Het
Gfral C A 9: 76,164,825 G388* probably null Het
Gm10436 C T 12: 88,178,455 V34I possibly damaging Het
Gm12258 A G 11: 58,848,694 T3A probably benign Het
Hoxa5 T C 6: 52,204,331 N7S probably damaging Het
Itgb4 T C 11: 115,990,920 L765P probably damaging Het
Jchain C T 5: 88,521,524 C90Y probably damaging Het
Klhl40 A G 9: 121,778,917 Y381C probably damaging Het
Lhx6 A T 2: 36,103,465 C74S probably benign Het
Magel2 A G 7: 62,380,884 S1179G unknown Het
Mapre3 T C 5: 30,864,897 I236T probably damaging Het
Mcf2l A T 8: 13,014,010 probably null Het
Med13 A T 11: 86,328,497 H374Q probably benign Het
Meioc A G 11: 102,674,287 Y187C probably benign Het
Myh1 G A 11: 67,217,863 M1368I probably benign Het
Olfr304 A T 7: 86,386,000 I220N possibly damaging Het
Olfr921 A G 9: 38,775,530 I92V probably damaging Het
Phrf1 T C 7: 141,262,481 Y1501H probably damaging Het
Pigb T C 9: 73,022,291 T337A probably damaging Het
Pls1 T C 9: 95,773,698 K334E probably benign Het
Rab3b T C 4: 108,940,802 C226R probably damaging Het
Ryr2 A T 13: 11,556,685 I4889N possibly damaging Het
Serpinb1a G A 13: 32,845,415 S210L probably benign Het
Slc52a3 A G 2: 152,007,602 I390V probably benign Het
Slc6a7 C A 18: 61,003,310 A340S probably damaging Het
Tcaf3 T C 6: 42,593,681 Y379C probably damaging Het
Tex261 A G 6: 83,771,240 V180A probably benign Het
Tnnt1 C T 7: 4,514,212 probably null Het
Ttn T C 2: 76,968,503 T476A possibly damaging Het
Vcan A G 13: 89,704,169 S891P probably benign Het
Vmn2r16 T A 5: 109,363,761 D611E possibly damaging Het
Vmn2r68 T C 7: 85,237,611 T32A probably benign Het
Vwde T G 6: 13,190,527 S522R probably benign Het
Wdr3 G A 3: 100,146,789 probably benign Het
Wfs1 G T 5: 36,971,563 Q288K probably benign Het
Zfp142 A G 1: 74,579,540 V120A probably damaging Het
Zfp672 A G 11: 58,317,366 F43S probably damaging Het
Znhit3 A T 11: 84,911,457 probably benign Het
Other mutations in Areg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01929:Areg APN 5 91144453 missense probably benign
IGL01971:Areg APN 5 91141011 missense probably benign 0.03
IGL02250:Areg APN 5 91141108 missense possibly damaging 0.83
R1436:Areg UTSW 5 91139805 start gained probably benign
R1674:Areg UTSW 5 91143626 missense probably damaging 0.96
R1699:Areg UTSW 5 91143498 missense probably damaging 1.00
R4239:Areg UTSW 5 91143516 missense probably damaging 1.00
R4240:Areg UTSW 5 91143516 missense probably damaging 1.00
R4613:Areg UTSW 5 91143504 missense probably benign 0.34
R4738:Areg UTSW 5 91146724 missense possibly damaging 0.91
R5040:Areg UTSW 5 91144339 missense possibly damaging 0.94
R5305:Areg UTSW 5 91144449 missense probably damaging 1.00
R5987:Areg UTSW 5 91146718 missense possibly damaging 0.83
R6075:Areg UTSW 5 91143597 missense probably damaging 0.99
R7210:Areg UTSW 5 91140905 nonsense probably null
R8165:Areg UTSW 5 91143633 missense probably damaging 0.97
Posted On2013-11-05