Incidental Mutation 'IGL02425:Errfi1'
ID292857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Errfi1
Ensembl Gene ENSMUSG00000028967
Gene NameERBB receptor feedback inhibitor 1
SynonymsMig-6, RALT, 1300002F13Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.274) question?
Stock #IGL02425
Quality Score
Status
Chromosome4
Chromosomal Location150853919-150868892 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 150866356 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 80 (F80L)
Ref Sequence ENSEMBL: ENSMUSP00000073285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030811] [ENSMUST00000073600]
Predicted Effect probably benign
Transcript: ENSMUST00000030811
AA Change: F80L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000030811
Gene: ENSMUSG00000028967
AA Change: F80L

DomainStartEndE-ValueType
Pfam:GTPase_binding 4 67 5.5e-40 PFAM
low complexity region 171 186 N/A INTRINSIC
low complexity region 227 241 N/A INTRINSIC
low complexity region 279 295 N/A INTRINSIC
Pfam:Inhibitor_Mig-6 314 370 9.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073600
AA Change: F80L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000073285
Gene: ENSMUSG00000028967
AA Change: F80L

DomainStartEndE-ValueType
Pfam:GTPase_binding 4 67 4.1e-36 PFAM
low complexity region 171 186 N/A INTRINSIC
low complexity region 227 241 N/A INTRINSIC
low complexity region 279 295 N/A INTRINSIC
Pfam:Inhibitor_Mig-6 314 371 6.2e-28 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous inactivation of this gene may lead to premature death, delayed eyelid opening, epidermal hyperplasia, degenerative joint disease, skin or lung cancer, gastrointestinal tract tumors, increased susceptibility to chemically-induced tumors, and impaired lung development and vascularization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8430423G03Rik A G 5: 148,950,662 probably benign Het
Adam4 C T 12: 81,421,328 R173H probably benign Het
Akap12 A G 10: 4,356,034 E948G possibly damaging Het
Akr1c12 T C 13: 4,273,750 Y184C probably damaging Het
Avil T C 10: 127,018,447 V761A probably benign Het
Bahd1 T A 2: 118,919,164 F480L probably benign Het
Bicral T C 17: 46,808,454 T714A probably benign Het
Col4a3bp T C 13: 96,609,882 I263T probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2d34 C T 15: 82,618,279 V219I probably benign Het
Dsn1 A G 2: 156,996,747 V316A probably damaging Het
Fam221b A G 4: 43,660,642 probably null Het
Fgd6 G A 10: 94,074,202 G790R probably benign Het
Fn1 T C 1: 71,641,143 probably benign Het
Gldn T A 9: 54,338,721 Y519N probably damaging Het
Il18r1 T C 1: 40,491,221 probably benign Het
Itpr2 A G 6: 146,391,321 V380A probably damaging Het
Kcnab1 T C 3: 65,302,179 Y154H possibly damaging Het
Lama1 T C 17: 67,811,485 V2564A probably benign Het
Lca5 T C 9: 83,399,721 T337A probably damaging Het
Lrp1 A G 10: 127,571,887 probably null Het
Moxd1 A G 10: 24,279,436 N245S probably benign Het
Napepld T C 5: 21,683,442 E3G probably benign Het
Nr1d2 T C 14: 18,222,011 T87A probably benign Het
Nudt4 T A 10: 95,549,383 T149S probably benign Het
Rad18 A T 6: 112,620,898 D219E probably damaging Het
Ryr2 T C 13: 11,745,674 I1508V probably damaging Het
Setx G A 2: 29,148,408 S1635N probably benign Het
Slc6a19 A G 13: 73,691,800 V121A probably benign Het
Snapc4 T C 2: 26,368,200 D736G probably damaging Het
Spink5 T C 18: 43,990,744 probably null Het
Strip1 T C 3: 107,614,646 I739V probably benign Het
Tmem161a T C 8: 70,176,927 probably null Het
Top1mt T C 15: 75,676,121 T39A probably benign Het
Trpm1 T C 7: 64,240,427 M926T probably damaging Het
Ttn T A 2: 76,757,280 K19744* probably null Het
Vmn2r26 A G 6: 124,061,818 E784G probably damaging Het
Wnk1 A G 6: 119,963,454 F774S probably damaging Het
Zfp317 T A 9: 19,643,613 Y101* probably null Het
Other mutations in Errfi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Errfi1 APN 4 150867030 missense probably damaging 0.99
R1326:Errfi1 UTSW 4 150865164 missense possibly damaging 0.92
R1530:Errfi1 UTSW 4 150865386 missense probably benign 0.36
R3162:Errfi1 UTSW 4 150867359 missense probably damaging 1.00
R3162:Errfi1 UTSW 4 150867359 missense probably damaging 1.00
R4720:Errfi1 UTSW 4 150866747 missense probably damaging 1.00
R6916:Errfi1 UTSW 4 150867473 nonsense probably null
R7099:Errfi1 UTSW 4 150866768 missense probably benign 0.01
R7447:Errfi1 UTSW 4 150866651 missense probably damaging 1.00
Posted On2015-04-16