Incidental Mutation 'R6908:Kdm7a'
ID 538859
Institutional Source Beutler Lab
Gene Symbol Kdm7a
Ensembl Gene ENSMUSG00000042599
Gene Name lysine (K)-specific demethylase 7A
Synonyms ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik
MMRRC Submission 045000-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6908 (G1)
Quality Score 190.009
Status Validated
Chromosome 6
Chromosomal Location 39113554-39183707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 39121373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 861 (L861M)
Ref Sequence ENSEMBL: ENSMUSP00000002305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002305]
AlphaFold Q3UWM4
Predicted Effect possibly damaging
Transcript: ENSMUST00000002305
AA Change: L861M

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: L861M

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 95% (52/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T C 16: 56,477,668 (GRCm39) I1197T probably benign Het
Atp2a1 A G 7: 126,047,707 (GRCm39) probably null Het
B3glct T C 5: 149,619,941 (GRCm39) probably null Het
Bbs9 T G 9: 22,479,019 (GRCm39) I154S probably damaging Het
Brip1 T C 11: 85,968,710 (GRCm39) Y825C probably damaging Het
Ccdc186 A T 19: 56,780,371 (GRCm39) probably null Het
Celf6 T C 9: 59,511,106 (GRCm39) V349A probably benign Het
Chd9 A G 8: 91,683,044 (GRCm39) T495A probably benign Het
Cxxc1 G A 18: 74,353,630 (GRCm39) C546Y probably damaging Het
Cxxc5 T C 18: 35,992,268 (GRCm39) V223A probably damaging Het
Dlc1 A G 8: 37,404,841 (GRCm39) F316S probably benign Het
Dnajc12 C A 10: 63,233,104 (GRCm39) Q82K probably benign Het
Dock8 G A 19: 25,165,746 (GRCm39) E1877K probably damaging Het
Epha3 T G 16: 63,418,612 (GRCm39) H611P probably damaging Het
Fpr-rs6 C A 17: 20,402,701 (GRCm39) C220F probably damaging Het
Fryl A G 5: 73,179,554 (GRCm39) L2951P probably damaging Het
Gbp10 T G 5: 105,368,898 (GRCm39) T314P probably damaging Het
Hbb-bs T C 7: 103,476,741 (GRCm39) N77D probably benign Het
Ints13 A T 6: 146,456,531 (GRCm39) D438E probably damaging Het
Itgb6 C T 2: 60,480,365 (GRCm39) V324M probably benign Het
Kirrel3 A G 9: 34,924,697 (GRCm39) T302A possibly damaging Het
Lama2 A T 10: 26,907,192 (GRCm39) probably null Het
Lrp2 A T 2: 69,302,709 (GRCm39) C3007S probably damaging Het
Lypd3 G C 7: 24,337,858 (GRCm39) G75R probably damaging Het
Mastl T C 2: 23,045,988 (GRCm39) probably benign Het
Mcf2l T C 8: 13,068,919 (GRCm39) V1087A probably benign Het
Mcmdc2 C A 1: 10,001,003 (GRCm39) probably null Het
Ms4a3 A G 19: 11,615,659 (GRCm39) I39T probably damaging Het
Mylk T G 16: 34,700,643 (GRCm39) C495G probably benign Het
Myo10 A G 15: 25,804,469 (GRCm39) D1588G probably damaging Het
Myo15a A T 11: 60,396,832 (GRCm39) T2634S probably damaging Het
Nlrp1b T C 11: 71,108,122 (GRCm39) I460V probably benign Het
Nmt1 T G 11: 102,949,080 (GRCm39) S312A possibly damaging Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or2d4 T C 7: 106,543,839 (GRCm39) Y123C possibly damaging Het
Paxip1 T C 5: 27,996,222 (GRCm39) Y19C possibly damaging Het
Pcdhb2 G T 18: 37,429,577 (GRCm39) A517S probably damaging Het
Pkd2l1 A G 19: 44,140,885 (GRCm39) I559T probably damaging Het
Plec G A 15: 76,070,081 (GRCm39) Q806* probably null Het
Prss51 C T 14: 64,333,601 (GRCm39) A70V probably benign Het
Psd3 A T 8: 68,416,829 (GRCm39) I356K probably benign Het
Ptprn2 A T 12: 116,852,508 (GRCm39) I522F probably benign Het
Rab39 T C 9: 53,617,369 (GRCm39) D16G probably damaging Het
Ralgps1 T C 2: 33,033,112 (GRCm39) Q439R probably benign Het
Rapgef2 A T 3: 79,011,370 (GRCm39) D238E probably benign Het
Ripor2 G A 13: 24,890,215 (GRCm39) G697S probably damaging Het
Scn11a A T 9: 119,621,492 (GRCm39) F642I probably damaging Het
Serinc4 G A 2: 121,284,086 (GRCm39) T310I probably benign Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Slc36a3 T C 11: 55,040,712 (GRCm39) probably benign Het
Smc1b A G 15: 84,991,211 (GRCm39) S656P probably damaging Het
Sorbs1 A G 19: 40,340,776 (GRCm39) S455P probably damaging Het
Ttn C A 2: 76,720,202 (GRCm39) probably benign Het
Tyw5 T C 1: 57,440,682 (GRCm39) R27G probably damaging Het
Vmn1r209 T C 13: 22,990,400 (GRCm39) T97A possibly damaging 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
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
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'- TAGAGTGTCCCCACCTACTAC -3'
(R):5'- ATGCAGAGAAAGCTTTAAATACCTC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GTAGAAGCCAGAAACACATC -3'
Posted On 2018-11-06