Incidental Mutation 'R5352:Foxj1'
ID 423855
Institutional Source Beutler Lab
Gene Symbol Foxj1
Ensembl Gene ENSMUSG00000034227
Gene Name forkhead box J1
Synonyms FKHL-13, HFH-4, Hfh4
MMRRC Submission 042931-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5352 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 116221530-116226225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116224905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 154 (N154S)
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: N154S

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038351
Gene: ENSMUSG00000034227
AA Change: N154S

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 noncoding transcript
Transcript: ENSMUST00000137264
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
Predicted Effect probably benign
Transcript: ENSMUST00000150775
SMART Domains Protein: ENSMUSP00000123289
Gene: ENSMUSG00000052949

low complexity region 65 75 N/A INTRINSIC
Meta Mutation Damage Score 0.4381 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (66/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T G 16: 14,436,565 (GRCm39) L206* probably null Het
Adgrv1 T C 13: 81,642,776 (GRCm39) Y3218C probably damaging Het
Agtpbp1 G A 13: 59,621,560 (GRCm39) T41M probably damaging Het
Akap6 A T 12: 52,842,880 (GRCm39) E76V probably damaging Het
Ank2 C A 3: 127,292,640 (GRCm39) probably benign Het
Atp6ap1l A C 13: 91,031,875 (GRCm39) L269R probably damaging Het
Blk A G 14: 63,613,420 (GRCm39) S363P probably damaging Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Btnl9 T C 11: 49,069,667 (GRCm39) N204S probably benign Het
Cc2d2a G T 5: 43,863,555 (GRCm39) W672C probably damaging Het
Ccnf A G 17: 24,462,247 (GRCm39) probably null Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Chst1 A G 2: 92,443,710 (GRCm39) T61A possibly damaging Het
Col6a4 G A 9: 105,938,743 (GRCm39) T1325I probably damaging Het
Col7a1 A C 9: 108,790,479 (GRCm39) T976P unknown Het
Corin C T 5: 72,462,376 (GRCm39) S811N probably benign Het
Dnal1 T C 12: 84,183,322 (GRCm39) V27A possibly damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
F830045P16Rik T A 2: 129,314,821 (GRCm39) H152L probably damaging Het
Flnc A G 6: 29,449,317 (GRCm39) S1405G possibly damaging Het
Gm12183 T C 11: 48,642,989 (GRCm39) noncoding transcript Het
Gm27047 G A 6: 130,607,982 (GRCm39) noncoding transcript Het
Grm5 A G 7: 87,724,058 (GRCm39) I783V probably damaging Het
Hk1 A T 10: 62,140,549 (GRCm39) S113T probably damaging Het
Iqca1 A T 1: 90,057,918 (GRCm39) N260K probably benign Het
Iws1 A T 18: 32,216,457 (GRCm39) K399M probably damaging Het
Kdm4d A G 9: 14,375,654 (GRCm39) I68T probably damaging Het
Man2a1 T C 17: 65,038,241 (GRCm39) I75T probably damaging Het
Med13 T A 11: 86,192,294 (GRCm39) I824L possibly damaging Het
Meioc A T 11: 102,566,139 (GRCm39) E585V probably benign Het
Mrgpre A C 7: 143,334,831 (GRCm39) F224C probably damaging Het
Muc5b T A 7: 141,418,295 (GRCm39) F3747Y possibly damaging Het
Nherf2 C T 17: 24,861,229 (GRCm39) R66H probably damaging Het
Nlrp4e T C 7: 23,052,598 (GRCm39) V839A probably benign Het
Nup210 A T 6: 91,046,298 (GRCm39) V545E probably damaging Het
Ola1 T C 2: 72,929,674 (GRCm39) T310A probably damaging Het
Pdxdc1 T C 16: 13,658,175 (GRCm39) N516S probably benign Het
Phlpp1 A G 1: 106,100,455 (GRCm39) D241G probably benign Het
Ppp1r36 T C 12: 76,474,857 (GRCm39) V85A probably damaging Het
Rasa3 A C 8: 13,681,778 (GRCm39) L57R possibly damaging Het
Rp1 T C 1: 4,417,321 (GRCm39) S1264G probably benign Het
Rprd1b A G 2: 157,900,656 (GRCm39) E247G probably damaging Het
Sag G T 1: 87,740,715 (GRCm39) V46L probably benign Het
Sat2 A T 11: 69,513,141 (GRCm39) I17F probably damaging Het
Slc39a6 A T 18: 24,734,093 (GRCm39) Y199N probably benign Het
Snx2 A G 18: 53,330,997 (GRCm39) probably null Het
Thbs4 T C 13: 92,900,098 (GRCm39) D466G probably damaging Het
Tmem208 A G 8: 106,055,063 (GRCm39) D91G probably damaging Het
Tmf1 A G 6: 97,153,770 (GRCm39) L101P probably damaging Het
Tnni1 A G 1: 135,733,330 (GRCm39) T51A probably benign Het
Tor3a T G 1: 156,501,763 (GRCm39) E38A probably damaging Het
Trim31 T A 17: 37,210,810 (GRCm39) D147E possibly damaging Het
Vmn1r48 G T 6: 90,013,129 (GRCm39) A232E probably benign Het
Vmn1r89 T G 7: 12,953,284 (GRCm39) F7V probably benign Het
Zfp160 A G 17: 21,247,114 (GRCm39) T555A probably benign Het
Zfp981 C A 4: 146,621,462 (GRCm39) T129K probably benign Het
Zfpm2 T A 15: 40,733,938 (GRCm39) F106I probably benign 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
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
R7399:Foxj1 UTSW 11 116,223,080 (GRCm39) missense possibly damaging 0.94
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 2016-08-04