Incidental Mutation 'IGL02721:Kdm7a'
ID 305020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm7a
Ensembl Gene ENSMUSG00000042599
Gene Name lysine (K)-specific demethylase 7A
Synonyms ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02721
Quality Score
Status
Chromosome 6
Chromosomal Location 39113554-39183707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 39150371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 134 (A134T)
Ref Sequence ENSEMBL: ENSMUSP00000002305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002305]
AlphaFold Q3UWM4
Predicted Effect possibly damaging
Transcript: ENSMUST00000002305
AA Change: A134T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: A134T

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,888,124 (GRCm39) I398L probably benign Het
4931414P19Rik A G 14: 54,823,202 (GRCm39) S332P probably damaging Het
Abca7 T C 10: 79,849,469 (GRCm39) S1877P possibly damaging Het
Adora2b G T 11: 62,155,931 (GRCm39) A127S probably damaging Het
Ahnak A G 19: 8,987,071 (GRCm39) K2785R probably benign Het
Anapc2 G A 2: 25,164,680 (GRCm39) W21* probably null Het
Atp7b A G 8: 22,512,493 (GRCm39) S457P probably benign Het
Catsperb A G 12: 101,591,556 (GRCm39) Q1046R probably null Het
Comp A T 8: 70,828,731 (GRCm39) N188Y probably damaging Het
Crnkl1 A T 2: 145,765,801 (GRCm39) I423K possibly damaging Het
Crtap A T 9: 114,210,707 (GRCm39) V289E probably damaging Het
Ctnna2 T C 6: 76,958,852 (GRCm39) N454S probably damaging Het
Dnah5 A T 15: 28,234,389 (GRCm39) probably null Het
Dstyk T G 1: 132,377,054 (GRCm39) V220G probably benign Het
E230025N22Rik C T 18: 36,828,664 (GRCm39) V5M probably damaging Het
Fam111a T G 19: 12,564,336 (GRCm39) N28K probably benign Het
Fbxo32 A G 15: 58,046,358 (GRCm39) I284T possibly damaging Het
Fgb A C 3: 82,950,674 (GRCm39) V360G possibly damaging Het
Gm3404 A T 5: 146,463,738 (GRCm39) R128* probably null Het
Hal G T 10: 93,343,360 (GRCm39) G535* probably null Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Igsf5 T A 16: 96,192,222 (GRCm39) S274T probably damaging Het
Klhl25 G T 7: 75,516,648 (GRCm39) W518L probably damaging Het
Map1a A T 2: 121,134,518 (GRCm39) D1778V probably benign Het
Nif3l1 A G 1: 58,497,008 (GRCm39) D311G probably damaging Het
Numa1 A G 7: 101,649,118 (GRCm39) T950A probably benign Het
Nup54 A T 5: 92,565,716 (GRCm39) I406N possibly damaging Het
Or10ab5 G T 7: 108,245,582 (GRCm39) S67* probably null Het
Or2y1d T A 11: 49,321,468 (GRCm39) L55* probably null Het
Or6c210 C T 10: 129,495,824 (GRCm39) P50S probably benign Het
Or6c211 A T 10: 129,505,992 (GRCm39) I132N probably benign Het
Pcdhb18 T A 18: 37,623,084 (GRCm39) M138K probably benign Het
Pik3c2g A G 6: 139,682,699 (GRCm39) T27A probably benign Het
Plekhb2 A G 1: 34,908,445 (GRCm39) N163S probably benign Het
Ros1 G A 10: 52,048,927 (GRCm39) probably benign Het
Sh3gl1 A G 17: 56,324,577 (GRCm39) L357P possibly damaging Het
Skint5 T A 4: 113,799,746 (GRCm39) D141V probably damaging Het
Slc10a5 A G 3: 10,399,595 (GRCm39) V355A probably benign Het
Speer1c T C 5: 10,293,883 (GRCm39) K106E probably damaging Het
Ssh2 G T 11: 77,345,551 (GRCm39) G1179* probably null Het
Syde2 A G 3: 145,707,759 (GRCm39) N566S probably damaging Het
Sytl1 T C 4: 132,986,189 (GRCm39) R149G probably benign Het
Tnpo2 A G 8: 85,781,319 (GRCm39) probably null Het
Top2b T C 14: 16,409,236 (GRCm38) L793P probably damaging Het
U2surp T A 9: 95,356,488 (GRCm39) E789D probably benign Het
Vps13c G A 9: 67,871,431 (GRCm39) probably benign Het
Zbtb34 C T 2: 33,301,270 (GRCm39) G424R probably damaging Het
Zfhx4 A G 3: 5,308,367 (GRCm39) D531G possibly damaging Het
Zfp787 C T 7: 6,135,463 (GRCm39) probably null Het
Other mutations in Kdm7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Kdm7a APN 6 39,121,444 (GRCm39) missense probably benign
IGL00976:Kdm7a APN 6 39,121,332 (GRCm39) missense possibly damaging 0.90
IGL01063:Kdm7a APN 6 39,142,064 (GRCm39) missense probably damaging 0.98
IGL01325:Kdm7a APN 6 39,135,243 (GRCm39) splice site probably benign
IGL01710:Kdm7a APN 6 39,152,320 (GRCm39) missense probably benign 0.06
IGL01953:Kdm7a APN 6 39,123,836 (GRCm39) missense probably benign 0.10
IGL02336:Kdm7a APN 6 39,147,198 (GRCm39) missense probably damaging 1.00
IGL02963:Kdm7a APN 6 39,120,164 (GRCm39) missense probably damaging 1.00
IGL03165:Kdm7a APN 6 39,147,848 (GRCm39) splice site probably benign
R0033:Kdm7a UTSW 6 39,142,131 (GRCm39) nonsense probably null
R0831:Kdm7a UTSW 6 39,143,699 (GRCm39) splice site probably benign
R0920:Kdm7a UTSW 6 39,128,256 (GRCm39) missense probably damaging 1.00
R0962:Kdm7a UTSW 6 39,124,128 (GRCm39) missense probably benign 0.05
R1403:Kdm7a UTSW 6 39,128,187 (GRCm39) splice site probably benign
R1632:Kdm7a UTSW 6 39,129,832 (GRCm39) missense probably benign 0.15
R1759:Kdm7a UTSW 6 39,124,633 (GRCm39) splice site probably null
R2143:Kdm7a UTSW 6 39,145,884 (GRCm39) missense possibly damaging 0.61
R2197:Kdm7a UTSW 6 39,123,870 (GRCm39) missense probably damaging 0.98
R2496:Kdm7a UTSW 6 39,147,697 (GRCm39) splice site probably null
R3844:Kdm7a UTSW 6 39,158,513 (GRCm39) missense probably damaging 1.00
R4083:Kdm7a UTSW 6 39,129,748 (GRCm39) missense probably damaging 1.00
R4184:Kdm7a UTSW 6 39,125,911 (GRCm39) missense probably benign
R4193:Kdm7a UTSW 6 39,146,030 (GRCm39) missense probably damaging 1.00
R4402:Kdm7a UTSW 6 39,143,602 (GRCm39) missense probably null 1.00
R4544:Kdm7a UTSW 6 39,152,406 (GRCm39) missense probably benign 0.08
R4546:Kdm7a UTSW 6 39,152,406 (GRCm39) missense probably benign 0.08
R4560:Kdm7a UTSW 6 39,129,757 (GRCm39) missense probably damaging 0.96
R4561:Kdm7a UTSW 6 39,129,757 (GRCm39) missense probably damaging 0.96
R4562:Kdm7a UTSW 6 39,129,757 (GRCm39) missense probably damaging 0.96
R4563:Kdm7a UTSW 6 39,129,757 (GRCm39) missense probably damaging 0.96
R4737:Kdm7a UTSW 6 39,129,773 (GRCm39) missense possibly damaging 0.57
R5061:Kdm7a UTSW 6 39,128,386 (GRCm39) missense possibly damaging 0.88
R5247:Kdm7a UTSW 6 39,121,390 (GRCm39) missense probably benign 0.00
R5430:Kdm7a UTSW 6 39,126,276 (GRCm39) missense possibly damaging 0.85
R6248:Kdm7a UTSW 6 39,123,983 (GRCm39) missense possibly damaging 0.63
R6254:Kdm7a UTSW 6 39,147,203 (GRCm39) missense probably damaging 1.00
R6346:Kdm7a UTSW 6 39,128,145 (GRCm39) splice site probably null
R6420:Kdm7a UTSW 6 39,142,102 (GRCm39) missense probably damaging 1.00
R6908:Kdm7a UTSW 6 39,121,373 (GRCm39) missense possibly damaging 0.79
R6966:Kdm7a UTSW 6 39,129,773 (GRCm39) missense probably damaging 1.00
R7048:Kdm7a UTSW 6 39,145,982 (GRCm39) missense probably damaging 1.00
R7087:Kdm7a UTSW 6 39,152,315 (GRCm39) missense probably benign 0.18
R7450:Kdm7a UTSW 6 39,120,185 (GRCm39) missense probably damaging 1.00
R7737:Kdm7a UTSW 6 39,121,338 (GRCm39) missense probably benign 0.03
R8172:Kdm7a UTSW 6 39,125,965 (GRCm39) missense probably benign 0.00
R8223:Kdm7a UTSW 6 39,126,235 (GRCm39) missense probably damaging 1.00
R8337:Kdm7a UTSW 6 39,122,461 (GRCm39) missense probably benign 0.00
R8950:Kdm7a UTSW 6 39,123,903 (GRCm39) missense probably benign
R8996:Kdm7a UTSW 6 39,129,786 (GRCm39) missense probably benign 0.21
R9421:Kdm7a UTSW 6 39,129,763 (GRCm39) missense possibly damaging 0.83
R9497:Kdm7a UTSW 6 39,128,253 (GRCm39) missense probably damaging 1.00
R9506:Kdm7a UTSW 6 39,126,305 (GRCm39) missense probably benign 0.08
R9523:Kdm7a UTSW 6 39,147,767 (GRCm39) missense probably damaging 1.00
R9630:Kdm7a UTSW 6 39,150,239 (GRCm39) missense probably damaging 0.96
RF012:Kdm7a UTSW 6 39,183,447 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16