Incidental Mutation 'IGL01398:Foxq1'
ID 79528
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 # IGL01398
Quality Score
Status
Chromosome 13
Chromosomal Location 31742153-31744959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 31743434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 179 (D179N)
Ref Sequence ENSEMBL: ENSMUSP00000036952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042118] [ENSMUST00000170573]
AlphaFold O70220
Predicted Effect probably damaging
Transcript: ENSMUST00000042118
AA Change: D179N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036952
Gene: ENSMUSG00000038415
AA Change: D179N

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,772,548 (GRCm39) D521G probably damaging Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Best2 T A 8: 85,735,956 (GRCm39) Y326F probably damaging Het
Clca3a1 T C 3: 144,722,512 (GRCm39) T287A possibly damaging Het
Cyp26a1 C T 19: 37,686,395 (GRCm39) T13I probably damaging Het
Dhcr7 T C 7: 143,395,056 (GRCm39) S188P probably damaging Het
Eml3 T G 19: 8,911,598 (GRCm39) probably benign Het
Faf1 A T 4: 109,593,793 (GRCm39) I124F probably damaging Het
Fkbp9 T A 6: 56,837,790 (GRCm39) probably benign Het
Frem1 C T 4: 82,868,599 (GRCm39) V1443M possibly damaging Het
Gpnmb T A 6: 49,027,365 (GRCm39) M363K probably benign Het
Grm3 T C 5: 9,535,762 (GRCm39) probably benign Het
Ints3 A G 3: 90,300,130 (GRCm39) L929P probably damaging Het
Myh11 T A 16: 14,019,964 (GRCm39) I1823F probably damaging Het
Nudt9 T C 5: 104,212,979 (GRCm39) *351Q probably null Het
Or2ak6 A T 11: 58,592,593 (GRCm39) H22L probably benign Het
Or4c107 C T 2: 88,789,193 (GRCm39) P128S probably damaging Het
Or8k38 A T 2: 86,488,032 (GRCm39) F257I probably damaging Het
Pgr15l C T X: 96,121,785 (GRCm39) T392I probably benign Het
Sdk1 C A 5: 141,923,332 (GRCm39) L318I probably benign Het
Sult1c2 C A 17: 54,269,180 (GRCm39) V279L possibly damaging Het
Tek T C 4: 94,738,014 (GRCm39) I688T probably damaging Het
Telo2 A T 17: 25,324,748 (GRCm39) D477E probably benign Het
Ubr3 T A 2: 69,789,997 (GRCm39) Y884N probably damaging Het
Upf3a C A 8: 13,836,221 (GRCm39) H92Q probably damaging Het
Vmn2r51 C T 7: 9,836,341 (GRCm39) E147K probably benign Het
Vps54 A G 11: 21,245,403 (GRCm39) probably benign Het
Zdhhc14 T C 17: 5,762,738 (GRCm39) I214T possibly damaging Het
Other mutations in Foxq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Foxq1 APN 13 31,743,260 (GRCm39) missense probably damaging 1.00
IGL02217:Foxq1 APN 13 31,743,152 (GRCm39) missense probably damaging 0.98
IGL02471:Foxq1 APN 13 31,743,326 (GRCm39) missense possibly damaging 0.87
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 2013-11-05