Incidental Mutation 'R4561:Kdm7a'
ID 343091
Institutional Source Beutler Lab
Gene Symbol Kdm7a
Ensembl Gene ENSMUSG00000042599
Gene Name lysine (K)-specific demethylase 7A
Synonyms ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik
MMRRC Submission 041786-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4561 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 39113554-39183707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 39129757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 473 (R473Q)
Ref Sequence ENSEMBL: ENSMUSP00000002305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002305]
AlphaFold Q3UWM4
Predicted Effect probably damaging
Transcript: ENSMUST00000002305
AA Change: R473Q

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: R473Q

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
Meta Mutation Damage Score 0.3989 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 T C 10: 69,837,848 (GRCm39) S1601P probably damaging Het
Arnt A G 3: 95,359,924 (GRCm39) N56D probably damaging Het
Atad5 A G 11: 79,986,715 (GRCm39) T601A probably benign Het
Calr4 A G 4: 109,103,379 (GRCm39) N163S probably damaging Het
Cenpc1 C A 5: 86,195,491 (GRCm39) A93S probably damaging Het
Cep135 C T 5: 76,786,040 (GRCm39) H1048Y possibly damaging Het
Ctnna2 A G 6: 77,613,696 (GRCm39) probably null Het
Ddx60 T C 8: 62,395,495 (GRCm39) L144P probably damaging Het
Dera A T 6: 137,757,736 (GRCm39) T96S possibly damaging Het
Dock9 T A 14: 121,796,419 (GRCm39) M1853L probably benign Het
Erbb4 G A 1: 68,383,080 (GRCm39) R306* probably null Het
Glyat G T 19: 12,628,644 (GRCm39) L146F possibly damaging Het
Grk4 C A 5: 34,852,157 (GRCm39) Q134K probably benign Het
Hkdc1 T C 10: 62,245,618 (GRCm39) Q181R probably benign Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Ipo4 C T 14: 55,867,546 (GRCm39) probably benign Het
Ivl CCTGCTGCTGCT CCTGCTGCTGCTGCT 3: 92,479,262 (GRCm39) probably benign Het
Kcnd2 A G 6: 21,216,395 (GRCm39) Q33R probably benign Het
Klhl30 A T 1: 91,288,753 (GRCm39) H504L probably damaging Het
Map4 A G 9: 109,881,439 (GRCm39) Y101C possibly damaging Het
Mfn2 C A 4: 147,961,492 (GRCm39) R707L probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myof T C 19: 37,911,438 (GRCm39) N1511D probably benign Het
Neb A T 2: 52,176,167 (GRCm39) Y1431N probably damaging Het
Nlrc5 A G 8: 95,203,774 (GRCm39) T625A probably damaging Het
Or5g27 G T 2: 85,409,964 (GRCm39) C127F probably damaging Het
Pax2 A G 19: 44,824,402 (GRCm39) Y374C unknown Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Pkhd1 A T 1: 20,604,943 (GRCm39) L1124Q possibly damaging Het
Ppp1r3a A G 6: 14,754,681 (GRCm39) F189L probably damaging Het
Prex2 G A 1: 11,254,769 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Slc22a22 T A 15: 57,126,781 (GRCm39) Q77L probably damaging Het
Slc24a2 A T 4: 87,145,634 (GRCm39) V140D probably damaging Het
Slc35g2 C A 9: 100,435,287 (GRCm39) R128L probably damaging Het
Slco1b2 A G 6: 141,616,893 (GRCm39) T409A probably benign Het
Spag7 T C 11: 70,555,816 (GRCm39) I80M probably damaging Het
Srgap3 A G 6: 112,758,015 (GRCm39) M164T probably damaging Het
Sspo A T 6: 48,452,468 (GRCm39) probably null Het
Tcte2 T C 17: 13,942,864 (GRCm39) probably benign Het
Tmem117 A T 15: 94,992,677 (GRCm39) M446L probably benign Het
Tmtc4 T C 14: 123,200,710 (GRCm39) T194A probably benign Het
Ttc21b T C 2: 66,016,562 (GRCm39) Y1269C probably damaging Het
Zfp236 A T 18: 82,638,531 (GRCm39) I1363N probably damaging Het
Zfp760 T A 17: 21,942,648 (GRCm39) S608T probably benign Het
Zfp947 G T 17: 22,365,124 (GRCm39) Y183* 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
IGL02721:Kdm7a APN 6 39,150,371 (GRCm39) missense possibly damaging 0.93
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
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
Predicted Primers PCR Primer
(F):5'- GGAACTGCCTCTGTTGTTTTATAAC -3'
(R):5'- ATAAGATTCACTGTGAGGCAAATCC -3'

Sequencing Primer
(F):5'- ACTTCACACGTGTCAGTG -3'
(R):5'- CCTCCTAGCTATTGGGATTAAAGGC -3'
Posted On 2015-09-24