Incidental Mutation 'R7399:Foxj1'
ID 574049
Institutional Source Beutler Lab
Gene Symbol Foxj1
Ensembl Gene ENSMUSG00000034227
Gene Name forkhead box J1
Synonyms FKHL-13, HFH-4, Hfh4
MMRRC Submission 045481-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7399 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116221530-116226225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116223080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 241 (L241Q)
Ref Sequence ENSEMBL: ENSMUSP00000038351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036215] [ENSMUST00000100202] [ENSMUST00000106398]
AlphaFold Q61660
Predicted Effect possibly damaging
Transcript: ENSMUST00000036215
AA Change: L241Q

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038351
Gene: ENSMUSG00000034227
AA Change: L241Q

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

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

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

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
Meta Mutation Damage Score 0.1205 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (74/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T G 11: 84,151,505 (GRCm39) V801G possibly damaging Het
Actbl2 T A 13: 111,392,127 (GRCm39) M154K probably benign Het
Adam7 A T 14: 68,741,915 (GRCm39) probably null Het
Arfgef1 T A 1: 10,251,122 (GRCm39) T888S probably benign Het
AW554918 C T 18: 25,302,117 (GRCm39) P10L possibly damaging Het
Bcap29 A G 12: 31,680,881 (GRCm39) I35T probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Cby2 A G 14: 75,830,077 (GRCm39) S39P probably benign Het
Cdc25b A G 2: 131,036,574 (GRCm39) D458G probably damaging Het
Cdc42bpb T C 12: 111,272,101 (GRCm39) K1104R probably benign Het
Cep89 A G 7: 35,137,803 (GRCm39) N729S probably damaging Het
Clec4a4 T A 6: 122,968,788 (GRCm39) M51K possibly damaging Het
Dcdc2b A G 4: 129,503,422 (GRCm39) L270P probably damaging Het
Dennd5b G T 6: 148,937,981 (GRCm39) H639N probably damaging Het
Dnah11 T G 12: 117,991,212 (GRCm39) T2385P probably benign Het
Dnah11 T C 12: 118,089,520 (GRCm39) E1182G probably damaging Het
Dok7 T C 5: 35,223,815 (GRCm39) V81A probably damaging Het
Dtx1 T A 5: 120,820,458 (GRCm39) M494L possibly damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Hnmt T A 2: 23,893,892 (GRCm39) T201S probably benign Het
Jup G T 11: 100,269,177 (GRCm39) T412K possibly damaging Het
Kcnh2 G A 5: 24,527,057 (GRCm39) S954F probably damaging Het
Klhdc7b A C 15: 89,272,847 (GRCm39) K585T possibly damaging Het
Klk7 T A 7: 43,461,424 (GRCm39) S14T probably benign Het
Lama4 G A 10: 38,923,944 (GRCm39) E451K probably damaging Het
Ldhb A G 6: 142,441,399 (GRCm39) C164R probably damaging Het
Malrd1 G A 2: 15,614,901 (GRCm39) D239N Het
Mgam T A 6: 40,643,788 (GRCm39) V572E probably damaging Het
Mrgprb2 G T 7: 48,201,890 (GRCm39) N278K probably damaging Het
Msto1 A G 3: 88,819,130 (GRCm39) Y206H probably damaging Het
Myo6 A G 9: 80,169,573 (GRCm39) S467G unknown Het
Mysm1 T A 4: 94,849,964 (GRCm39) I447L probably benign Het
Nav3 T C 10: 109,688,795 (GRCm39) E494G possibly damaging Het
Nol10 T G 12: 17,452,174 (GRCm39) V376G probably damaging Het
Nup205 T A 6: 35,191,611 (GRCm39) I1032N probably damaging Het
Oog2 A G 4: 143,921,851 (GRCm39) K254E probably benign Het
Or10ac1 A G 6: 42,515,662 (GRCm39) F98S possibly damaging Het
Or52z12 A T 7: 103,233,588 (GRCm39) I120L possibly damaging Het
Or5b98 A G 19: 12,931,811 (GRCm39) N286S probably damaging Het
Or5d41 A T 2: 88,055,366 (GRCm39) Y3* probably null Het
Or5g25 T A 2: 85,477,768 (GRCm39) D299V possibly damaging Het
Or5g27 A G 2: 85,409,640 (GRCm39) D19G probably benign Het
Or6b1 T G 6: 42,815,680 (GRCm39) Y288* probably null Het
Or6c6 A T 10: 129,186,426 (GRCm39) probably benign Het
Or8h10 G A 2: 86,808,501 (GRCm39) T213I probably benign Het
Osbpl11 T A 16: 33,056,649 (GRCm39) D694E probably benign Het
Pcm1 T A 8: 41,746,547 (GRCm39) Y1210N probably benign Het
Pdxk T C 10: 78,276,697 (GRCm39) M293V probably benign Het
Plcb3 T C 19: 6,940,235 (GRCm39) I451V probably benign Het
Plekhm2 A G 4: 141,361,687 (GRCm39) F272S probably damaging Het
Pramel32 C A 4: 88,546,202 (GRCm39) R380L probably benign Het
Ptgdr A T 14: 45,095,689 (GRCm39) probably null Het
Ptprf C T 4: 118,083,720 (GRCm39) V788I probably benign Het
Ralbp1 C T 17: 66,161,143 (GRCm39) V467I probably benign Het
Ralgds A C 2: 28,433,667 (GRCm39) Q229P possibly damaging Het
Recql T C 6: 142,320,610 (GRCm39) D146G probably damaging Het
Reln T C 5: 22,256,365 (GRCm39) N493S probably damaging Het
Rfxank C T 8: 70,587,936 (GRCm39) probably null Het
Scn5a A T 9: 119,315,596 (GRCm39) M1704K probably damaging Het
Slc7a7 G T 14: 54,611,725 (GRCm39) A316E possibly damaging Het
Slco1a6 A T 6: 142,036,794 (GRCm39) C538S probably benign Het
Stard6 T C 18: 70,631,718 (GRCm39) probably null Het
Strip2 T A 6: 29,927,612 (GRCm39) M219K possibly damaging Het
Tcam1 T C 11: 106,174,911 (GRCm39) V122A probably damaging Het
Tha1 A G 11: 117,760,516 (GRCm39) V236A possibly damaging Het
Tmem201 A T 4: 149,815,554 (GRCm39) I132N possibly damaging Het
Tnc T C 4: 63,938,894 (GRCm39) probably benign Het
Vmn1r42 T C 6: 89,822,495 (GRCm39) T25A probably benign Het
Vmn2r94 T A 17: 18,464,765 (GRCm39) probably null Het
Wdfy4 A C 14: 32,790,863 (GRCm39) V2188G Het
Zfp623 T C 15: 75,819,247 (GRCm39) S68P probably damaging Het
Zfp950 A T 19: 61,107,593 (GRCm39) C497S probably damaging Het
Zkscan2 C T 7: 123,079,327 (GRCm39) E877K probably damaging Het
Zp3r C A 1: 130,504,790 (GRCm39) V536L probably damaging Het
Other mutations in Foxj1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01920:Foxj1 APN 11 116,222,746 (GRCm39) missense possibly damaging 0.68
IGL02416:Foxj1 APN 11 116,222,829 (GRCm39) missense probably benign
R0386:Foxj1 UTSW 11 116,222,629 (GRCm39) missense possibly damaging 0.95
R0615:Foxj1 UTSW 11 116,224,908 (GRCm39) missense possibly damaging 0.56
R5352:Foxj1 UTSW 11 116,224,905 (GRCm39) missense possibly damaging 0.85
R7062:Foxj1 UTSW 11 116,222,819 (GRCm39) missense probably benign
R7161:Foxj1 UTSW 11 116,223,234 (GRCm39) missense probably damaging 1.00
R7190:Foxj1 UTSW 11 116,223,201 (GRCm39) missense possibly damaging 0.90
R8016:Foxj1 UTSW 11 116,222,675 (GRCm39) missense probably damaging 1.00
R8283:Foxj1 UTSW 11 116,224,893 (GRCm39) missense probably benign 0.00
R9147:Foxj1 UTSW 11 116,225,236 (GRCm39) missense probably damaging 1.00
R9380:Foxj1 UTSW 11 116,222,547 (GRCm39) missense possibly damaging 0.78
Z1177:Foxj1 UTSW 11 116,223,093 (GRCm39) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-09-13