Incidental Mutation 'IGL02336:Kdm7a'
ID 288858
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 # IGL02336
Quality Score
Status
Chromosome 6
Chromosomal Location 39113554-39183707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39147198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 250 (W250R)
Ref Sequence ENSEMBL: ENSMUSP00000002305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002305]
AlphaFold Q3UWM4
Predicted Effect probably damaging
Transcript: ENSMUST00000002305
AA Change: W250R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: W250R

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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A G 2: 93,696,253 (GRCm39) V119A possibly damaging Het
Adamts12 T A 15: 11,311,331 (GRCm39) M1196K probably benign Het
Adgre1 T A 17: 57,718,024 (GRCm39) C345* probably null Het
Adrb2 T C 18: 62,312,078 (GRCm39) E249G probably benign Het
Amdhd1 T A 10: 93,360,291 (GRCm39) I423F probably benign Het
Ankhd1 A G 18: 36,727,867 (GRCm39) N501S probably damaging Het
Bltp2 T C 11: 78,179,858 (GRCm39) V2127A probably damaging Het
Cd180 T A 13: 102,841,821 (GRCm39) I289N probably damaging Het
Chst5 T A 8: 112,616,949 (GRCm39) I224F probably damaging Het
Cox6a2 A G 7: 127,805,103 (GRCm39) I60T possibly damaging Het
Dnajc6 C T 4: 101,471,483 (GRCm39) probably null Het
Dpp6 G A 5: 27,674,409 (GRCm39) E179K probably benign Het
Fasn G A 11: 120,704,562 (GRCm39) T1341I possibly damaging Het
Fat1 C T 8: 45,404,620 (GRCm39) T457I probably benign Het
Filip1l A T 16: 57,392,096 (GRCm39) probably null Het
Gje1 A T 10: 14,592,413 (GRCm39) I123N probably damaging Het
Gli3 A G 13: 15,894,874 (GRCm39) T683A probably damaging Het
Gm29326 C A 7: 29,260,833 (GRCm39) noncoding transcript Het
Gm5460 A G 14: 33,765,909 (GRCm39) probably benign Het
Hspa4 C T 11: 53,153,200 (GRCm39) S739N probably benign Het
Ighv1-42 T A 12: 114,900,885 (GRCm39) I67F probably damaging Het
Iqgap1 A G 7: 80,402,041 (GRCm39) V408A probably benign Het
Kif5a A G 10: 127,078,565 (GRCm39) I360T possibly damaging Het
Maml1 T C 11: 50,148,992 (GRCm39) N916S probably benign Het
Mier2 A T 10: 79,384,184 (GRCm39) probably benign Het
Mpst A T 15: 78,294,474 (GRCm39) T69S probably benign Het
Nlk C A 11: 78,477,763 (GRCm39) V327F probably damaging Het
Nme5 A T 18: 34,711,730 (GRCm39) S4T probably benign Het
Notch2 A G 3: 98,045,711 (GRCm39) I1625M possibly damaging Het
Nup210l T C 3: 90,088,859 (GRCm39) probably null Het
Oas1d A G 5: 121,057,111 (GRCm39) E239G probably damaging Het
Olfm4 T C 14: 80,243,761 (GRCm39) S110P probably damaging Het
Or52e2 T C 7: 102,804,772 (GRCm39) M61V probably benign Het
Parn T A 16: 13,384,567 (GRCm39) I499F probably damaging Het
Ppargc1a G A 5: 51,653,068 (GRCm39) Q165* probably null Het
Ppp1r12b T A 1: 134,814,244 (GRCm39) E353V probably damaging Het
Prkdc A G 16: 15,603,842 (GRCm39) Q2952R possibly damaging Het
Prkdc G T 16: 15,603,843 (GRCm39) Q2952H probably benign Het
Qars1 G T 9: 108,392,185 (GRCm39) E143* probably null Het
Reln A G 5: 22,134,132 (GRCm39) Y2599H probably damaging Het
Rnf123 T C 9: 107,939,041 (GRCm39) E803G probably damaging Het
Rnf141 G A 7: 110,436,405 (GRCm39) Q8* probably null Het
Rnf167 A G 11: 70,540,952 (GRCm39) I193V probably benign Het
Rprd2 A T 3: 95,694,622 (GRCm39) M137K probably benign Het
Rtf1 T G 2: 119,559,226 (GRCm39) probably benign Het
Serpina1d T A 12: 103,731,055 (GRCm39) R308* probably null Het
Smg7 T C 1: 152,719,030 (GRCm39) Y899C probably benign Het
Tbr1 C A 2: 61,635,336 (GRCm39) H95Q possibly damaging Het
Tcf19 A T 17: 35,825,380 (GRCm39) probably null Het
Timm44 T A 8: 4,317,692 (GRCm39) R210W probably damaging Het
Trnau1ap C A 4: 132,041,331 (GRCm39) E194* probably null Het
Trp63 G A 16: 25,639,192 (GRCm39) G127S probably damaging Het
Trrap C T 5: 144,735,200 (GRCm39) A989V probably benign Het
Ttn T C 2: 76,600,326 (GRCm39) D18988G probably damaging Het
Tubb4b-ps1 T A 5: 7,229,952 (GRCm39) probably benign Het
Vmn1r77 G A 7: 11,775,223 (GRCm39) probably null Het
Vmn1r80 A G 7: 11,927,181 (GRCm39) Y97C probably benign Het
Vmn2r77 G A 7: 86,451,224 (GRCm39) C370Y probably damaging Het
Xntrpc C A 7: 101,733,492 (GRCm39) A147D probably damaging Het
Zc3h4 C T 7: 16,159,702 (GRCm39) S424F unknown Het
Zcwpw1 T A 5: 137,808,376 (GRCm39) S275T probably damaging Het
Zfp979 C T 4: 147,699,808 (GRCm39) C44Y probably damaging Het
Zscan20 T C 4: 128,479,587 (GRCm39) H968R probably damaging Het
Zswim3 T C 2: 164,662,297 (GRCm39) V259A probably damaging Het
Zzz3 T G 3: 152,133,696 (GRCm39) D251E 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
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
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