Incidental Mutation 'R4193:Kdm7a'
ID 318402
Institutional Source Beutler Lab
Gene Symbol Kdm7a
Ensembl Gene ENSMUSG00000042599
Gene Name lysine (K)-specific demethylase 7A
Synonyms ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik
MMRRC Submission 041024-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4193 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 39113554-39183707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 39146030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 299 (K299T)
Ref Sequence ENSEMBL: ENSMUSP00000002305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002305]
AlphaFold Q3UWM4
Predicted Effect probably damaging
Transcript: ENSMUST00000002305
AA Change: K299T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: K299T

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G T 14: 35,818,536 (GRCm39) R178L possibly damaging Het
Abcb1a G A 5: 8,765,068 (GRCm39) probably null Het
Acap3 A G 4: 155,986,234 (GRCm39) T285A probably benign Het
Adam20 A T 8: 41,248,352 (GRCm39) N154I probably damaging Het
Adamts8 A T 9: 30,870,604 (GRCm39) D693V probably damaging Het
Ak9 A G 10: 41,211,941 (GRCm39) H226R probably benign Het
Atp6v1b1 A G 6: 83,720,085 (GRCm39) S7G probably benign Het
Atxn7l3b C A 10: 112,764,610 (GRCm39) L6F probably damaging Het
Bco1 C T 8: 117,840,208 (GRCm39) T242M probably damaging Het
Btla A G 16: 45,070,845 (GRCm39) N268S probably benign Het
Capn9 A G 8: 125,327,225 (GRCm39) S292G probably null Het
Cdhr18 C T 14: 13,914,416 (GRCm38) V9I probably benign Het
Col7a1 G A 9: 108,785,740 (GRCm39) S403N unknown Het
Ctps1 A G 4: 120,405,335 (GRCm39) V369A probably damaging Het
Ddx19b A T 8: 111,737,980 (GRCm39) L256Q probably damaging Het
Dnah7a T C 1: 53,486,493 (GRCm39) K3356R probably benign Het
Dpf2 G A 19: 5,957,044 (GRCm39) R60* probably null Het
Eif3h A T 15: 51,662,695 (GRCm39) V117E probably damaging Het
Fam234a A T 17: 26,432,834 (GRCm39) L467Q probably damaging Het
Fez1 T A 9: 36,755,023 (GRCm39) S7R probably damaging Het
Fh1 T A 1: 175,442,407 (GRCm39) M148L possibly damaging Het
Gabra2 G A 5: 71,165,341 (GRCm39) P210S probably benign Het
Gfm1 T G 3: 67,339,053 (GRCm39) I52S probably damaging Het
Gm6729 A T 10: 86,376,483 (GRCm39) noncoding transcript Het
Gpr152 T G 19: 4,192,906 (GRCm39) L149R probably damaging Het
H2bc27 T A 11: 58,840,067 (GRCm39) L101Q probably damaging Het
Ifnar2 A T 16: 91,201,232 (GRCm39) D491V probably damaging Het
Igkv14-126 T C 6: 67,873,367 (GRCm39) S32P possibly damaging Het
Il1rl2 A G 1: 40,404,208 (GRCm39) E443G probably damaging Het
Impg2 A G 16: 56,088,774 (GRCm39) D1100G probably benign Het
Itga2 G A 13: 115,023,185 (GRCm39) R56* probably null Het
Itga2b A G 11: 102,360,511 (GRCm39) S10P probably benign Het
Jmjd1c C T 10: 66,932,460 (GRCm39) probably benign Het
Large2 T A 2: 92,195,704 (GRCm39) D632V probably damaging Het
Lrp2 C T 2: 69,297,487 (GRCm39) C3158Y probably damaging Het
Malt1 T A 18: 65,580,746 (GRCm39) D213E probably benign Het
Nkapl T C 13: 21,651,512 (GRCm39) Q367R probably benign Het
Nwd2 T C 5: 63,964,808 (GRCm39) L1464P probably damaging Het
Or1e25 C G 11: 73,494,243 (GRCm39) T279R probably damaging Het
Or2y1 A C 11: 49,386,134 (GRCm39) Y258S probably damaging Het
Or7a40 A T 16: 16,491,511 (GRCm39) D111E possibly damaging Het
Or8u10 T A 2: 85,916,044 (GRCm39) I26F probably benign Het
Or9g20 C T 2: 85,630,362 (GRCm39) C84Y probably benign Het
P2ry2 A G 7: 100,647,657 (GRCm39) V216A probably benign Het
Pcdhb1 A G 18: 37,400,199 (GRCm39) K717E probably damaging Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Pcsk6 T C 7: 65,675,056 (GRCm39) S476P probably damaging Het
Phactr3 T A 2: 177,924,945 (GRCm39) H293Q probably damaging Het
Pias1 T C 9: 62,859,286 (GRCm39) D74G possibly damaging Het
Plekhg6 T C 6: 125,350,081 (GRCm39) T286A probably benign Het
Pramel23 A T 4: 143,424,903 (GRCm39) L180Q probably damaging Het
Prkag2 A C 5: 25,083,758 (GRCm39) M75R probably damaging Het
Prl7c1 T A 13: 27,960,261 (GRCm39) M94L probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Ptprn2 A G 12: 116,864,628 (GRCm39) I548V probably benign Het
Ptprr T C 10: 116,088,769 (GRCm39) W307R probably damaging Het
Rab29 T C 1: 131,797,700 (GRCm39) S52P possibly damaging Het
Ralgapa2 A G 2: 146,184,493 (GRCm39) F1505L probably damaging Het
Scn8a C T 15: 100,869,484 (GRCm39) A209V probably damaging Het
Senp2 G T 16: 21,865,417 (GRCm39) W580L probably damaging Het
Septin4 A T 11: 87,474,142 (GRCm39) probably null Het
Slc17a5 C A 9: 78,466,388 (GRCm39) V269L possibly damaging Het
Slc2a9 T C 5: 38,556,049 (GRCm39) N299S probably damaging Het
Slc41a2 T A 10: 83,137,085 (GRCm39) H274L probably damaging Het
Suco A T 1: 161,691,528 (GRCm39) D43E probably benign Het
Tacr2 T A 10: 62,088,958 (GRCm39) I121N probably damaging Het
Tanc2 G A 11: 105,804,888 (GRCm39) probably benign Het
Tbl1xr1 T C 3: 22,254,522 (GRCm39) F322L possibly damaging Het
Tdrd1 T A 19: 56,839,773 (GRCm39) L611* probably null Het
Tgfbr2 T C 9: 115,939,009 (GRCm39) T298A probably damaging Het
Tmprss12 T C 15: 100,187,185 (GRCm39) V217A probably damaging Het
Ttbk1 A T 17: 46,790,173 (GRCm39) C91S probably damaging Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Vmn1r71 A T 7: 10,482,175 (GRCm39) I105K possibly damaging Het
Vmn2r57 A G 7: 41,077,663 (GRCm39) F168L probably benign Het
Zfp945 C T 17: 23,070,144 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CTTGAATGAGCCCAACCCTC -3'
(R):5'- TCTGAACTTGCTGATTAGGGAG -3'

Sequencing Primer
(F):5'- CTCAACAATCAACCATGGGAAGTAGG -3'
(R):5'- TAGGCCATCCTGAGATTG -3'
Posted On 2015-06-10