Incidental Mutation 'IGL00401:Foxq1'
ID4325
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: 0.324) question?
Stock #IGL00401
Quality Score
Status
Chromosome13
Chromosomal Location31556134-31560976 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 31559277 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 121 (I121F)
Ref Sequence ENSEMBL: ENSMUSP00000036952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042118] [ENSMUST00000170573]
Predicted Effect probably damaging
Transcript: ENSMUST00000042118
AA Change: I121F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036952
Gene: ENSMUSG00000038415
AA Change: I121F

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk T A 17: 71,895,748 D1164V probably damaging Het
Baiap3 T G 17: 25,244,328 L964F probably damaging Het
Cacna2d2 T A 9: 107,514,873 V471E probably damaging Het
Carmil3 C T 14: 55,498,298 T569M probably damaging Het
Dapk2 G T 9: 66,268,778 probably benign Het
Eps15l1 A T 8: 72,384,838 Y291* probably null Het
Fancd2 T C 6: 113,564,396 probably null Het
Fmnl2 T G 2: 53,114,917 D674E probably damaging Het
Galnt13 C T 2: 54,516,535 probably benign Het
Git1 T C 11: 77,498,956 probably benign Het
Gm10220 A T 5: 26,118,611 F146Y possibly damaging Het
Gm7353 A G 7: 3,110,630 noncoding transcript Het
Hspa9 G A 18: 34,938,580 probably benign Het
Kptn A G 7: 16,120,125 D56G possibly damaging Het
Krtap4-13 A T 11: 99,809,717 C39S unknown Het
Lgsn A G 1: 31,203,566 K243R possibly damaging Het
Lyz2 C T 10: 117,282,185 V20I probably benign Het
Mettl3 T A 14: 52,296,967 probably benign Het
Myh6 T A 14: 54,953,417 M934L probably benign Het
Nmnat2 A G 1: 153,094,117 probably null Het
Pias2 T A 18: 77,133,211 C381S probably damaging Het
Psme4 T C 11: 30,821,079 probably benign Het
Smc4 T A 3: 69,030,379 D887E probably damaging Het
Sorcs2 C A 5: 36,037,401 probably null Het
Tet2 T C 3: 133,466,882 E1873G possibly damaging Het
Txlng T A X: 162,782,309 K341* probably null Het
Ugt2b37 T A 5: 87,242,481 T369S possibly damaging Het
Usp46 C A 5: 74,003,171 V302F probably damaging Het
Zfp292 A G 4: 34,808,683 C1454R probably benign Het
Other mutations in Foxq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01398:Foxq1 APN 13 31559451 missense probably damaging 1.00
IGL02217:Foxq1 APN 13 31559169 missense probably damaging 0.98
IGL02471:Foxq1 APN 13 31559343 missense possibly damaging 0.87
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
Posted On2012-04-20