Incidental Mutation 'IGL02471:Foxq1'
ID 294734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxq1
Ensembl Gene ENSMUSG00000038415
Gene Name forkhead box Q1
Synonyms Hfh1, sa, Hfh1l, HFH-1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # IGL02471
Quality Score
Status
Chromosome 13
Chromosomal Location 31742153-31744959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31743326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 143 (E143K)
Ref Sequence ENSEMBL: ENSMUSP00000036952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042118] [ENSMUST00000170573]
AlphaFold O70220
Predicted Effect possibly damaging
Transcript: ENSMUST00000042118
AA Change: E143K

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000036952
Gene: ENSMUSG00000038415
AA Change: E143K

DomainStartEndE-ValueType
low complexity region 32 72 N/A INTRINSIC
low complexity region 89 105 N/A INTRINSIC
FH 113 204 3.98e-50 SMART
low complexity region 206 211 N/A INTRINSIC
low complexity region 225 254 N/A INTRINSIC
low complexity region 258 269 N/A INTRINSIC
low complexity region 296 325 N/A INTRINSIC
low complexity region 340 355 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170573
SMART Domains Protein: ENSMUSP00000129167
Gene: ENSMUSG00000090863

DomainStartEndE-ValueType
low complexity region 5 31 N/A INTRINSIC
low complexity region 44 67 N/A INTRINSIC
low complexity region 91 106 N/A INTRINSIC
low complexity region 168 186 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FOXQ1 is a member of the FOX gene family, which is characterized by a conserved 110-amino acid DNA-binding motif called the forkhead or winged helix domain. FOX genes are involved in embryonic development, cell cycle regulation, tissue-specific gene expression, cell signaling, and tumorigenesis (Bieller et al., 2001 [PubMed 11747606]).[supplied by OMIM, May 2009]
PHENOTYPE: Mutations in this gene affect coat color and texture. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,297,357 (GRCm39) H2378N probably benign Het
Btaf1 C A 19: 36,977,592 (GRCm39) A1470E probably damaging Het
Ccdc110 A G 8: 46,394,793 (GRCm39) D228G probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn18 T C 9: 99,578,128 (GRCm39) D205G probably benign Het
Clip2 T C 5: 134,546,876 (GRCm39) T231A probably benign Het
Cltc A G 11: 86,608,860 (GRCm39) V723A probably damaging Het
Cpa3 C T 3: 20,282,971 (GRCm39) probably null Het
Cyfip2 T G 11: 46,091,630 (GRCm39) T1097P possibly damaging Het
Dnah9 T A 11: 65,838,444 (GRCm39) R667* probably null Het
Dock10 T C 1: 80,493,339 (GRCm39) E1878G probably damaging Het
Ermap G A 4: 119,037,160 (GRCm39) H353Y probably damaging Het
Etfa A T 9: 55,393,984 (GRCm39) probably null Het
F5 C T 1: 164,001,860 (GRCm39) P188S probably damaging Het
Gsr C T 8: 34,172,612 (GRCm39) probably benign Het
Hebp1 T A 6: 135,132,274 (GRCm39) Y31F probably benign Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Lamb1 T A 12: 31,370,907 (GRCm39) D1319E probably damaging Het
Lrp5 A T 19: 3,652,408 (GRCm39) V1154E probably benign Het
Manba G A 3: 135,212,769 (GRCm39) probably benign Het
Mknk2 A T 10: 80,503,955 (GRCm39) F319I probably damaging Het
Mup6 A T 4: 60,003,971 (GRCm39) probably benign Het
Nalcn T C 14: 123,560,726 (GRCm39) T784A probably benign Het
Nt5dc1 T C 10: 34,279,721 (GRCm39) E107G probably benign Het
Or11h6 A T 14: 50,880,214 (GRCm39) I159F probably benign Het
Or56b34 T A 7: 104,938,252 (GRCm39) F317L probably benign Het
Or9q2 G A 19: 13,772,589 (GRCm39) P129S probably damaging Het
Phldb1 T C 9: 44,622,530 (GRCm39) E41G probably damaging Het
Ptk2 T C 15: 73,170,036 (GRCm39) D309G probably benign Het
Rab11fip5 A G 6: 85,325,207 (GRCm39) S367P probably damaging Het
Rb1cc1 T A 1: 6,310,275 (GRCm39) N224K probably benign Het
Rchy1 A T 5: 92,105,405 (GRCm39) C65* probably null Het
Rgs18 T C 1: 144,650,359 (GRCm39) D56G probably benign Het
Rtraf A C 14: 19,862,296 (GRCm39) L197R probably damaging Het
Slc44a5 G T 3: 153,962,213 (GRCm39) W382L probably damaging Het
Snx24 C T 18: 53,518,241 (GRCm39) probably benign Het
Sphkap T C 1: 83,253,897 (GRCm39) D1284G probably damaging Het
Tmem54 A G 4: 129,002,111 (GRCm39) M53V probably benign Het
Trip6 G A 5: 137,308,618 (GRCm39) P414S probably benign Het
Vmn1r38 A G 6: 66,753,751 (GRCm39) Y122H probably benign Het
Wapl T A 14: 34,413,877 (GRCm39) N246K possibly damaging Het
Zfp12 G A 5: 143,230,551 (GRCm39) G293R probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp446 T G 7: 12,716,181 (GRCm39) V209G probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Foxq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Foxq1 APN 13 31,743,260 (GRCm39) missense probably damaging 1.00
IGL01398:Foxq1 APN 13 31,743,434 (GRCm39) missense probably damaging 1.00
IGL02217:Foxq1 APN 13 31,743,152 (GRCm39) missense probably damaging 0.98
H8786:Foxq1 UTSW 13 31,743,441 (GRCm39) missense probably damaging 1.00
R1387:Foxq1 UTSW 13 31,743,288 (GRCm39) missense probably damaging 1.00
R2436:Foxq1 UTSW 13 31,742,516 (GRCm39) utr 3 prime probably benign
R4566:Foxq1 UTSW 13 31,743,471 (GRCm39) missense probably benign 0.17
R4612:Foxq1 UTSW 13 31,742,808 (GRCm39) start gained probably benign
R5761:Foxq1 UTSW 13 31,743,314 (GRCm39) missense probably damaging 0.99
R6230:Foxq1 UTSW 13 31,743,491 (GRCm39) missense probably damaging 1.00
R6607:Foxq1 UTSW 13 31,743,129 (GRCm39) missense possibly damaging 0.61
R7983:Foxq1 UTSW 13 31,743,972 (GRCm39) missense possibly damaging 0.85
R8321:Foxq1 UTSW 13 31,743,251 (GRCm39) missense probably damaging 1.00
R9619:Foxq1 UTSW 13 31,743,580 (GRCm39) missense probably benign
Posted On 2015-04-16