Incidental Mutation 'IGL03351:Kdm6a'
ID 419719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm6a
Ensembl Gene ENSMUSG00000037369
Gene Name lysine (K)-specific demethylase 6A
Synonyms Utx
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03351
Quality Score
Status
Chromosome X
Chromosomal Location 18162575-18279936 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 18247104 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 92 (Q92*)
Ref Sequence ENSEMBL: ENSMUSP00000153267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044484] [ENSMUST00000052368] [ENSMUST00000223885] [ENSMUST00000224084] [ENSMUST00000224255]
AlphaFold O70546
Predicted Effect probably null
Transcript: ENSMUST00000044484
AA Change: Q444*
SMART Domains Protein: ENSMUSP00000045862
Gene: ENSMUSG00000037369
AA Change: Q444*

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
TPR 95 128 4.2e-2 SMART
TPR 132 165 6.1e-6 SMART
TPR 207 240 3.3e-2 SMART
TPR 286 319 2.3e-3 SMART
TPR 320 353 2e-5 SMART
TPR 354 387 7.7e-2 SMART
low complexity region 814 833 N/A INTRINSIC
low complexity region 919 932 N/A INTRINSIC
low complexity region 972 983 N/A INTRINSIC
low complexity region 1055 1071 N/A INTRINSIC
JmjC 1095 1258 3.9e-51 SMART
Blast:JmjC 1294 1358 7e-35 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000052368
AA Change: Q444*
SMART Domains Protein: ENSMUSP00000061539
Gene: ENSMUSG00000037369
AA Change: Q444*

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
low complexity region 28 42 N/A INTRINSIC
TPR 95 128 8.74e0 SMART
TPR 132 165 1.3e-3 SMART
TPR 207 240 7.01e0 SMART
TPR 286 319 4.69e-1 SMART
TPR 320 353 4.21e-3 SMART
TPR 354 387 1.6e1 SMART
low complexity region 814 833 N/A INTRINSIC
low complexity region 919 932 N/A INTRINSIC
low complexity region 972 983 N/A INTRINSIC
low complexity region 1055 1071 N/A INTRINSIC
JmjC 1095 1258 1.08e-48 SMART
Blast:JmjC 1294 1358 9e-35 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130978
Predicted Effect probably benign
Transcript: ENSMUST00000223885
Predicted Effect probably null
Transcript: ENSMUST00000224084
AA Change: Q92*
Predicted Effect probably benign
Transcript: ENSMUST00000224255
Predicted Effect probably benign
Transcript: ENSMUST00000225336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226046
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 is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, caudal body truncation, abnormal neural tube closure and abnormal heart development. Mice hemizygous for this allele exhibit perinatal lethality, abnormal neural tube closure, inability to breath, exencephaly and atelectasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik G A X: 58,918,937 V19I probably benign Het
4932414N04Rik T A 2: 68,731,083 D251E probably benign Het
4932415D10Rik T C 10: 82,283,567 probably benign Het
5730460C07Rik C T 3: 153,789,958 noncoding transcript Het
Coch G A 12: 51,603,206 R326Q probably benign Het
Cpa3 A G 3: 20,215,962 V366A probably benign Het
Csf1r C T 18: 61,117,108 Q382* probably null Het
Csta1 C A 16: 36,131,041 G4* probably null Het
Cts7 T C 13: 61,356,603 R49G probably damaging Het
Dlg5 A G 14: 24,170,454 V575A probably benign Het
Ero1l G T 14: 45,294,533 N227K probably benign Het
Faap24 G T 7: 35,395,309 C58* probably null Het
Gm13089 G A 4: 143,697,088 T377I possibly damaging Het
Hfm1 G A 5: 106,911,575 Q194* probably null Het
Hs3st5 T A 10: 36,833,323 Y285N probably damaging Het
Hyal6 G A 6: 24,743,429 G375R probably damaging Het
Itgb5 T C 16: 33,910,552 S93P probably benign Het
Kcnj6 A T 16: 94,832,583 M205K probably damaging Het
Klhl38 A G 15: 58,323,330 M1T probably null Het
Krtap7-1 T C 16: 89,507,996 probably benign Het
L1cam T C X: 73,863,028 T270A probably damaging Het
Lmod2 A G 6: 24,598,016 N45S probably benign Het
Mmp2 A G 8: 92,839,342 I424V probably benign Het
Myh8 A G 11: 67,303,913 Q1650R possibly damaging Het
Naalad2 T A 9: 18,364,187 E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 T74A probably benign Het
Npr2 G T 4: 43,640,652 M368I probably benign Het
Nupl1 T C 14: 60,228,775 T445A probably benign Het
Olfr294 A G 7: 86,615,677 Y323H possibly damaging Het
Olfr582 A G 7: 103,042,130 D212G probably damaging Het
Pkp3 A G 7: 141,082,693 T73A probably benign Het
Pole A G 5: 110,301,998 probably benign Het
Ppp2r3a C T 9: 101,211,192 G644D probably benign Het
Ptprb T C 10: 116,339,582 Y1161H probably benign Het
Ptprs T A 17: 56,437,943 K264N probably damaging Het
Rasal2 T C 1: 157,192,741 probably benign Het
Serpina6 A T 12: 103,646,913 I376N probably damaging Het
Setx T G 2: 29,161,799 I2062M probably benign Het
Slc9c1 A G 16: 45,543,168 D99G probably benign Het
Taok1 A G 11: 77,560,328 Y309H probably damaging Het
Trappc10 T C 10: 78,188,761 D1178G probably damaging Het
Trav5-1 G A 14: 52,622,845 E36K probably damaging Het
Vmn1r237 T C 17: 21,314,837 V274A probably benign Het
Vmn1r29 A T 6: 58,307,750 S152C probably damaging Het
Washc5 C A 15: 59,363,350 probably benign Het
Zfp369 T G 13: 65,296,153 L370R possibly damaging Het
Zfp750 T C 11: 121,513,347 Y234C probably damaging Het
Other mutations in Kdm6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Kdm6a APN X 18236666 missense possibly damaging 0.94
IGL00963:Kdm6a APN X 18246426 splice site probably benign
IGL02072:Kdm6a APN X 18254289 missense probably benign 0.00
IGL02426:Kdm6a APN X 18246310 missense probably damaging 1.00
R0539:Kdm6a UTSW X 18262425 missense probably damaging 0.99
R1387:Kdm6a UTSW X 18253996 splice site probably benign
R1809:Kdm6a UTSW X 18236684 missense probably benign 0.44
R2238:Kdm6a UTSW X 18199237 missense probably damaging 0.99
R2239:Kdm6a UTSW X 18199237 missense probably damaging 0.99
R4062:Kdm6a UTSW X 18250875 missense probably benign
R4063:Kdm6a UTSW X 18250875 missense probably benign
Posted On 2016-08-02