Incidental Mutation 'IGL02416:Foxj1'
ID292460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxj1
Ensembl Gene ENSMUSG00000034227
Gene Nameforkhead box J1
SynonymsHfh4, HFH-4, FKHL-13
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02416
Quality Score
Status
Chromosome11
Chromosomal Location116330704-116335399 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 116332003 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 325 (S325G)
Ref Sequence ENSEMBL: ENSMUSP00000038351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036215] [ENSMUST00000100202] [ENSMUST00000106398]
Predicted Effect probably benign
Transcript: ENSMUST00000036215
AA Change: S325G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038351
Gene: ENSMUSG00000034227
AA Change: S325G

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
FH 119 209 3.8e-56 SMART
low complexity region 246 271 N/A INTRINSIC
low complexity region 291 303 N/A INTRINSIC
low complexity region 316 340 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100202
SMART Domains Protein: ENSMUSP00000097776
Gene: ENSMUSG00000052949

DomainStartEndE-ValueType
RING 277 315 5.64e-4 SMART
low complexity region 345 358 N/A INTRINSIC
low complexity region 427 444 N/A INTRINSIC
low complexity region 446 457 N/A INTRINSIC
low complexity region 552 562 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106398
SMART Domains Protein: ENSMUSP00000102006
Gene: ENSMUSG00000052949

DomainStartEndE-ValueType
RING 277 315 5.64e-4 SMART
low complexity region 345 358 N/A INTRINSIC
low complexity region 427 444 N/A INTRINSIC
low complexity region 446 457 N/A INTRINSIC
low complexity region 552 562 N/A INTRINSIC
low complexity region 563 574 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149147
SMART Domains Protein: ENSMUSP00000122483
Gene: ENSMUSG00000052949

DomainStartEndE-ValueType
RING 102 140 5.64e-4 SMART
low complexity region 170 183 N/A INTRINSIC
low complexity region 252 269 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
low complexity region 377 387 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.] This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009]
PHENOTYPE: Animals homozygous for targeted mutations in this gene exhibit random determination of left-right asymmetry and defective ciliogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T C 14: 68,572,833 N227S probably null Het
Adgrf5 T G 17: 43,444,980 probably null Het
Arid2 G A 15: 96,350,055 G116D possibly damaging Het
Arsa T A 15: 89,474,788 H225L probably damaging Het
Atf6 T A 1: 170,747,157 K571* probably null Het
Bicdl1 A C 5: 115,663,885 L38R probably damaging Het
Cct4 T C 11: 23,002,868 S515P probably damaging Het
Celsr3 A C 9: 108,832,119 D1388A probably damaging Het
Clca2 T C 3: 145,085,016 T432A probably benign Het
Des T A 1: 75,362,728 probably null Het
Dock11 T A X: 36,020,086 V1119E probably damaging Het
Dysf A G 6: 84,192,914 N1763S possibly damaging Het
Emilin1 A G 5: 30,917,788 S458G possibly damaging Het
Fhdc1 T G 3: 84,445,228 M897L probably benign Het
Gm5407 A G 16: 49,296,887 noncoding transcript Het
Gm6576 T C 15: 27,025,987 noncoding transcript Het
Hells G A 19: 38,964,627 S743N probably benign Het
Ighv2-9-1 A T 12: 113,770,111 L30Q probably damaging Het
Iqgap1 A T 7: 80,726,038 L1363H probably damaging Het
Lrp2 T C 2: 69,469,633 D3025G probably damaging Het
Mef2d C T 3: 88,156,502 R79C probably damaging Het
Mical1 G T 10: 41,484,810 probably null Het
Micu2 A T 14: 57,923,965 V300E probably damaging Het
Mmgt2 T C 11: 62,664,877 L17P probably damaging Het
Olfr1182 A G 2: 88,446,830 I36T probably benign Het
Olfr371 T A 8: 85,231,033 C179* probably null Het
Olfr873 A T 9: 20,300,245 E15V probably benign Het
Pigb A G 9: 73,017,432 S482P probably benign Het
Pkd1l2 T A 8: 117,040,835 T1239S possibly damaging Het
Pou1f1 T C 16: 65,531,956 I187T probably damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rabgap1 T C 2: 37,561,950 I954T probably benign Het
Scube3 T G 17: 28,164,136 C429W probably damaging Het
Slco6b1 T A 1: 96,924,333 noncoding transcript Het
Strc A T 2: 121,369,058 I1300N probably damaging Het
Tdrd6 T A 17: 43,624,738 R1806S probably benign Het
Trpm8 T A 1: 88,360,716 L860Q probably damaging Het
Vmn1r8 A G 6: 57,036,620 R219G probably damaging Het
Wdr48 A G 9: 119,924,760 S649G probably damaging Het
Other mutations in Foxj1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01920:Foxj1 APN 11 116331920 missense possibly damaging 0.68
R0386:Foxj1 UTSW 11 116331803 missense possibly damaging 0.95
R0615:Foxj1 UTSW 11 116334082 missense possibly damaging 0.56
R5352:Foxj1 UTSW 11 116334079 missense possibly damaging 0.85
R7062:Foxj1 UTSW 11 116331993 missense probably benign
R7161:Foxj1 UTSW 11 116332408 missense probably damaging 1.00
R7190:Foxj1 UTSW 11 116332375 missense possibly damaging 0.90
R7399:Foxj1 UTSW 11 116332254 missense possibly damaging 0.94
R8016:Foxj1 UTSW 11 116331849 missense probably damaging 1.00
R8283:Foxj1 UTSW 11 116334067 missense probably benign 0.00
Z1177:Foxj1 UTSW 11 116332267 missense probably benign
Posted On2015-04-16