Incidental Mutation 'IGL02471:Foxq1'
ID294734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxq1
Ensembl Gene ENSMUSG00000038415
Gene Nameforkhead box Q1
SynonymsHfh1l, sa, Hfh1, HFH-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.494) question?
Stock #IGL02471
Quality Score
Status
Chromosome13
Chromosomal Location31556134-31560976 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 31559343 bp
ZygosityHeterozygous
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]
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: 71,258,198 H2378N probably benign Het
Btaf1 C A 19: 37,000,192 A1470E probably damaging Het
Ccdc110 A G 8: 45,941,756 D228G probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cldn18 T C 9: 99,696,075 D205G probably benign Het
Clip2 T C 5: 134,518,022 T231A probably benign Het
Cltc A G 11: 86,718,034 V723A probably damaging Het
Cpa3 C T 3: 20,228,807 probably null Het
Cyfip2 T G 11: 46,200,803 T1097P possibly damaging Het
Dnah9 T A 11: 65,947,618 R667* probably null Het
Dock10 T C 1: 80,515,622 E1878G probably damaging Het
Ermap G A 4: 119,179,963 H353Y probably damaging Het
Etfa A T 9: 55,486,700 probably null Het
F5 C T 1: 164,174,291 P188S probably damaging Het
Gsr C T 8: 33,682,584 probably benign Het
Hebp1 T A 6: 135,155,276 Y31F probably benign Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Lamb1 T A 12: 31,320,908 D1319E probably damaging Het
Lrp5 A T 19: 3,602,408 V1154E probably benign Het
Manba G A 3: 135,507,008 probably benign Het
Mknk2 A T 10: 80,668,121 F319I probably damaging Het
Mup6 A T 4: 60,003,971 probably benign Het
Nalcn T C 14: 123,323,314 T784A probably benign Het
Nt5dc1 T C 10: 34,403,725 E107G probably benign Het
Olfr1497 G A 19: 13,795,225 P129S probably damaging Het
Olfr688 T A 7: 105,289,045 F317L probably benign Het
Olfr745 A T 14: 50,642,757 I159F probably benign Het
Phldb1 T C 9: 44,711,233 E41G probably damaging Het
Ptk2 T C 15: 73,298,187 D309G probably benign Het
Rab11fip5 A G 6: 85,348,225 S367P probably damaging Het
Rb1cc1 T A 1: 6,240,051 N224K probably benign Het
Rchy1 A T 5: 91,957,546 C65* probably null Het
Rgs18 T C 1: 144,774,621 D56G probably benign Het
Rtraf A C 14: 19,812,228 L197R probably damaging Het
Slc44a5 G T 3: 154,256,576 W382L probably damaging Het
Snx24 C T 18: 53,385,169 probably benign Het
Sphkap T C 1: 83,276,176 D1284G probably damaging Het
Tmem54 A G 4: 129,108,318 M53V probably benign Het
Trip6 G A 5: 137,310,356 P414S probably benign Het
Vmn1r38 A G 6: 66,776,767 Y122H probably benign Het
Wapl T A 14: 34,691,920 N246K possibly damaging Het
Zfp12 G A 5: 143,244,796 G293R probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp446 T G 7: 12,982,254 V209G probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Foxq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Foxq1 APN 13 31559277 missense probably damaging 1.00
IGL01398:Foxq1 APN 13 31559451 missense probably damaging 1.00
IGL02217:Foxq1 APN 13 31559169 missense probably damaging 0.98
H8786:Foxq1 UTSW 13 31559458 missense probably damaging 1.00
R1387:Foxq1 UTSW 13 31559305 missense probably damaging 1.00
R2436:Foxq1 UTSW 13 31558533 utr 3 prime probably benign
R4566:Foxq1 UTSW 13 31559488 missense probably benign 0.17
R4612:Foxq1 UTSW 13 31558825 start gained probably benign
R5761:Foxq1 UTSW 13 31559331 missense probably damaging 0.99
R6230:Foxq1 UTSW 13 31559508 missense probably damaging 1.00
R6607:Foxq1 UTSW 13 31559146 missense possibly damaging 0.61
R7983:Foxq1 UTSW 13 31559989 missense possibly damaging 0.85
R8321:Foxq1 UTSW 13 31559268 missense probably damaging 1.00
Posted On2015-04-16