Incidental Mutation 'IGL02072:Kdm6a'
ID185866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm6a
Ensembl Gene ENSMUSG00000037369
Gene Namelysine (K)-specific demethylase 6A
SynonymsUtx
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02072
Quality Score
Status
ChromosomeX
Chromosomal Location18162575-18279936 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18254289 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 737 (T737A)
Ref Sequence ENSEMBL: ENSMUSP00000061539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044484] [ENSMUST00000052368] [ENSMUST00000223885] [ENSMUST00000224084] [ENSMUST00000224255]
Predicted Effect probably benign
Transcript: ENSMUST00000044484
AA Change: T737A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000045862
Gene: ENSMUSG00000037369
AA Change: T737A

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 benign
Transcript: ENSMUST00000052368
AA Change: T737A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000061539
Gene: ENSMUSG00000037369
AA Change: T737A

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 benign
Transcript: ENSMUST00000224084
Predicted Effect probably benign
Transcript: ENSMUST00000224255
Predicted Effect unknown
Transcript: ENSMUST00000225336
AA Change: T332A
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595D18Rik T A 12: 111,161,820 probably benign Het
Atm A G 9: 53,459,796 S2251P probably benign Het
C1qtnf6 T A 15: 78,527,351 K42* probably null Het
Ddx20 A T 3: 105,680,627 V379E probably damaging Het
Dnah7a A T 1: 53,605,827 W1017R probably damaging Het
Eif2s1 T A 12: 78,880,014 N179K probably benign Het
Exosc9 A T 3: 36,554,672 N140I probably damaging Het
Fam84b A G 15: 60,823,453 L148P probably damaging Het
Fancg A C 4: 43,007,062 H238Q probably benign Het
Fyttd1 A G 16: 32,900,661 I110V probably damaging Het
G6pd2 A T 5: 61,809,410 D176V probably damaging Het
Gm5114 A G 7: 39,411,402 S8P probably benign Het
Hoxa1 T A 6: 52,156,898 M283L probably damaging Het
Hspbp1 A T 7: 4,677,721 L252H probably damaging Het
Itgb2l A T 16: 96,430,608 D319E probably benign Het
Kmt2c A T 5: 25,405,432 D225E possibly damaging Het
Lamb2 T A 9: 108,481,908 Y274* probably null Het
Mamdc4 A G 2: 25,568,339 L353P probably damaging Het
Mid2 T A X: 140,736,452 H258Q probably damaging Het
Msh3 A C 13: 92,300,295 N502K probably damaging Het
Nalcn T C 14: 123,323,358 H769R probably benign Het
Nfx1 A G 4: 41,016,119 I894V probably benign Het
Notch3 G A 17: 32,147,074 Q1018* probably null Het
Oas1e A G 5: 120,791,781 probably null Het
Olfr1316 A T 2: 112,130,081 H243Q probably damaging Het
Olfr854 A G 9: 19,566,949 I145T probably benign Het
Plekha4 T A 7: 45,538,298 F265I probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc9a3 T C 13: 74,165,859 I762T probably benign Het
Spag1 C A 15: 36,190,512 P158Q probably damaging Het
Spout1 G A 2: 30,177,926 Q26* probably null Het
Sulf1 T C 1: 12,848,208 Y50H probably damaging Het
Sytl5 C T X: 9,963,586 probably benign Het
Tcof1 T C 18: 60,831,565 E663G possibly damaging Het
Tmc3 A G 7: 83,615,940 I681V probably benign Het
Tnfsf4 G T 1: 161,417,289 C183F probably damaging Het
Ubqln3 A T 7: 104,141,299 L528Q possibly damaging Het
Upf3a A C 8: 13,798,368 Q388P probably damaging Het
Vrk1 T C 12: 106,042,885 V70A probably benign 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
IGL02426:Kdm6a APN X 18246310 missense probably damaging 1.00
IGL03351:Kdm6a APN X 18247104 nonsense probably null
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 On2014-05-07