Incidental Mutation 'IGL02963:Kdm7a'
ID365431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm7a
Ensembl Gene ENSMUSG00000042599
Gene Namelysine (K)-specific demethylase 7A
SynonymsKdm7a, Jhdm1d, ENSMUSG00000073143, A630082K20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02963
Quality Score
Status
Chromosome6
Chromosomal Location39136623-39206789 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39143230 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 935 (H935R)
Ref Sequence ENSEMBL: ENSMUSP00000002305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002305]
Predicted Effect probably damaging
Transcript: ENSMUST00000002305
AA Change: H935R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: H935R

DomainStartEndE-ValueType
low complexity region 2 38 N/A INTRINSIC
PHD 39 86 8.64e-9 SMART
low complexity region 186 197 N/A INTRINSIC
JmjC 230 386 1.09e-49 SMART
low complexity region 408 419 N/A INTRINSIC
low complexity region 653 668 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146981
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutants exhibit abnormal hair follicle, tail, sebaceous gland, rib, and vertebrae morphology and decreased circulating iron levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,384,529 L565Q probably damaging Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
Arhgap44 A T 11: 65,031,663 I348N probably damaging Het
Bahcc1 T C 11: 120,274,932 S1005P possibly damaging Het
Cdh20 T A 1: 104,934,098 M1K probably null Het
Cpsf3 T C 12: 21,302,422 S387P probably damaging Het
Cyp2j6 T C 4: 96,518,184 E450G probably damaging Het
Cyr61 A G 3: 145,647,875 Y311H probably damaging Het
Dusp13 T C 14: 21,733,807 T147A possibly damaging Het
Eif3c T C 7: 126,556,820 T493A probably benign Het
Ell2 T C 13: 75,769,643 V564A possibly damaging Het
Gm4788 G A 1: 139,731,596 Q732* probably null Het
Gtf2ird1 T G 5: 134,389,687 E478D probably benign Het
Gys2 A T 6: 142,449,428 probably null Het
H2-T3 T C 17: 36,189,634 T104A probably damaging Het
Herc1 T C 9: 66,388,823 S567P probably damaging Het
Kcnq3 A T 15: 66,285,826 probably benign Het
Lcat A T 8: 105,939,956 F311L probably damaging Het
Manf A G 9: 106,891,139 S49P possibly damaging Het
Med25 T C 7: 44,892,256 K37E probably damaging Het
Ms4a4b T A 19: 11,454,698 I61K probably damaging Het
Muc5b T C 7: 141,864,264 I3649T probably damaging Het
Myo18a T G 11: 77,842,018 probably benign Het
Ncoa4 T C 14: 32,176,509 C429R probably damaging Het
Olfr113 A G 17: 37,574,854 S190P probably benign Het
Pigk G T 3: 152,766,461 E337* probably null Het
Pigz A T 16: 31,944,535 Y137F probably damaging Het
Ppp1r12b A G 1: 134,886,548 L339P probably damaging Het
Rasa2 C A 9: 96,570,785 L349F probably damaging Het
Reep4 A G 14: 70,547,970 S186G possibly damaging Het
Rfx7 A G 9: 72,617,616 K696R probably benign Het
Rnf220 A G 4: 117,490,192 F8L probably damaging Het
Rprm T C 2: 54,085,214 T31A probably benign Het
Sez6 T A 11: 77,962,949 L148Q possibly damaging Het
Sh2d6 C T 6: 72,517,601 V96I probably benign Het
Slc16a9 G T 10: 70,267,136 V81F probably damaging Het
Slc9a9 T A 9: 95,020,714 probably null Het
Sppl3 T A 5: 115,061,603 L22Q probably damaging Het
Ssc5d T C 7: 4,944,327 S1227P probably benign Het
Tbc1d1 T A 5: 64,264,366 V238E probably damaging Het
Tmco6 G A 18: 36,738,745 probably null Het
Tyr A G 7: 87,483,997 V287A probably benign Het
Uvrag A T 7: 98,906,490 probably null Het
Vmn1r167 A G 7: 23,505,550 S14P possibly damaging Het
Vmn1r171 A G 7: 23,632,688 T113A possibly damaging Het
Wnk4 A G 11: 101,276,213 probably benign Het
Zan T C 5: 137,456,250 T1431A unknown Het
Other mutations in Kdm7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Kdm7a APN 6 39144510 missense probably benign
IGL00976:Kdm7a APN 6 39144398 missense possibly damaging 0.90
IGL01063:Kdm7a APN 6 39165130 missense probably damaging 0.98
IGL01325:Kdm7a APN 6 39158309 splice site probably benign
IGL01710:Kdm7a APN 6 39175386 missense probably benign 0.06
IGL01953:Kdm7a APN 6 39146902 missense probably benign 0.10
IGL02336:Kdm7a APN 6 39170264 missense probably damaging 1.00
IGL02721:Kdm7a APN 6 39173437 missense possibly damaging 0.93
IGL03165:Kdm7a APN 6 39170914 splice site probably benign
R0033:Kdm7a UTSW 6 39165197 nonsense probably null
R0831:Kdm7a UTSW 6 39166765 splice site probably benign
R0920:Kdm7a UTSW 6 39151322 missense probably damaging 1.00
R0962:Kdm7a UTSW 6 39147194 missense probably benign 0.05
R1403:Kdm7a UTSW 6 39151253 splice site probably benign
R1632:Kdm7a UTSW 6 39152898 missense probably benign 0.15
R1759:Kdm7a UTSW 6 39147699 splice site probably null
R2143:Kdm7a UTSW 6 39168950 missense possibly damaging 0.61
R2197:Kdm7a UTSW 6 39146936 missense probably damaging 0.98
R2496:Kdm7a UTSW 6 39170763 splice site probably null
R3844:Kdm7a UTSW 6 39181579 missense probably damaging 1.00
R4083:Kdm7a UTSW 6 39152814 missense probably damaging 1.00
R4184:Kdm7a UTSW 6 39148977 missense probably benign
R4193:Kdm7a UTSW 6 39169096 missense probably damaging 1.00
R4402:Kdm7a UTSW 6 39166668 missense probably null 1.00
R4544:Kdm7a UTSW 6 39175472 missense probably benign 0.08
R4546:Kdm7a UTSW 6 39175472 missense probably benign 0.08
R4560:Kdm7a UTSW 6 39152823 missense probably damaging 0.96
R4561:Kdm7a UTSW 6 39152823 missense probably damaging 0.96
R4562:Kdm7a UTSW 6 39152823 missense probably damaging 0.96
R4563:Kdm7a UTSW 6 39152823 missense probably damaging 0.96
R4737:Kdm7a UTSW 6 39152839 missense possibly damaging 0.57
R5061:Kdm7a UTSW 6 39151452 missense possibly damaging 0.88
R5247:Kdm7a UTSW 6 39144456 missense probably benign 0.00
R5430:Kdm7a UTSW 6 39149342 missense possibly damaging 0.85
R6248:Kdm7a UTSW 6 39147049 missense possibly damaging 0.63
R6254:Kdm7a UTSW 6 39170269 missense probably damaging 1.00
R6346:Kdm7a UTSW 6 39151211 intron probably null
R6420:Kdm7a UTSW 6 39165168 missense probably damaging 1.00
R6908:Kdm7a UTSW 6 39144439 missense possibly damaging 0.79
R6966:Kdm7a UTSW 6 39152839 missense probably damaging 1.00
R7048:Kdm7a UTSW 6 39169048 missense probably damaging 1.00
R7087:Kdm7a UTSW 6 39175381 missense probably benign 0.18
Posted On2015-12-18