Incidental Mutation 'R7501:Kdm5d'
ID 581507
Institutional Source Beutler Lab
Gene Symbol Kdm5d
Ensembl Gene ENSMUSG00000056673
Gene Name lysine demethylase 5D
Synonyms Smcy, HY, Jarid1d
MMRRC Submission 045574-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R7501 (G1)
Quality Score 221.999
Status Validated
Chromosome Y
Chromosomal Location 897566-943813 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 941488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 1230 (W1230R)
Ref Sequence ENSEMBL: ENSMUSP00000061095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055032] [ENSMUST00000186696] [ENSMUST00000186726]
AlphaFold Q62240
Predicted Effect probably damaging
Transcript: ENSMUST00000055032
AA Change: W1230R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000061095
Gene: ENSMUSG00000056673
AA Change: W1230R

DomainStartEndE-ValueType
JmjN 13 54 3.45e-23 SMART
ARID 76 165 4.84e-36 SMART
BRIGHT 80 170 4.48e-38 SMART
PHD 325 371 8.56e-13 SMART
JmjC 467 633 2.52e-63 SMART
Pfam:zf-C5HC2 706 758 5.2e-18 PFAM
Pfam:PLU-1 771 1096 1.4e-89 PFAM
low complexity region 1147 1156 N/A INTRINSIC
low complexity region 1164 1181 N/A INTRINSIC
PHD 1182 1243 2.54e-6 SMART
coiled coil region 1290 1318 N/A INTRINSIC
low complexity region 1340 1351 N/A INTRINSIC
low complexity region 1395 1406 N/A INTRINSIC
low complexity region 1453 1459 N/A INTRINSIC
low complexity region 1525 1541 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186696
SMART Domains Protein: ENSMUSP00000140663
Gene: ENSMUSG00000056673

DomainStartEndE-ValueType
JmjN 13 54 3.45e-23 SMART
ARID 76 165 4.84e-36 SMART
BRIGHT 80 170 4.48e-38 SMART
PHD 325 371 8.56e-13 SMART
JmjC 467 633 2.52e-63 SMART
low complexity region 675 689 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186726
SMART Domains Protein: ENSMUSP00000140462
Gene: ENSMUSG00000056673

DomainStartEndE-ValueType
JmjN 13 54 1.4e-25 SMART
ARID 76 165 3.8e-40 SMART
BRIGHT 80 170 2.3e-40 SMART
Blast:ARID 175 260 1e-41 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A G 3: 36,142,974 (GRCm39) N503S probably benign Het
Adam1a C T 5: 121,657,011 (GRCm39) A761T possibly damaging Het
Amn1 C T 6: 149,086,529 (GRCm39) M44I probably benign Het
Ankrd44 T C 1: 54,688,522 (GRCm39) E238G Het
Ap3b2 A T 7: 81,123,194 (GRCm39) I440K probably damaging Het
Atp2a1 G A 7: 126,049,344 (GRCm39) T566I probably benign Het
B3galnt1 T C 3: 69,482,632 (GRCm39) I210V probably benign Het
Bag5 T C 12: 111,676,722 (GRCm39) K367R probably benign Het
Cdc25b T C 2: 131,036,080 (GRCm39) Y410H probably damaging Het
Cgref1 G T 5: 31,102,800 (GRCm39) P7Q probably damaging Het
Cnot6 T C 11: 49,576,159 (GRCm39) I136V probably benign Het
Comp A G 8: 70,832,059 (GRCm39) D500G possibly damaging Het
Dnah7b T C 1: 46,395,714 (GRCm39) L3872P probably damaging Het
Dync2h1 A T 9: 7,175,336 (GRCm39) L91Q possibly damaging Het
Fancd2 T C 6: 113,525,364 (GRCm39) V280A possibly damaging Het
Fat4 T A 3: 39,012,597 (GRCm39) Y2297* probably null Het
Fem1c A T 18: 46,638,868 (GRCm39) M378K probably damaging Het
Gata6 A G 18: 11,054,082 (GRCm39) T4A probably damaging Het
Gatb G C 3: 85,544,297 (GRCm39) V422L probably damaging Het
Gfpt1 T A 6: 87,059,508 (GRCm39) D510E probably benign Het
Gria4 A T 9: 4,502,436 (GRCm39) Y366N probably benign Het
Gucy1b1 T C 3: 81,942,666 (GRCm39) H492R probably damaging Het
H2bc6 A G 13: 23,769,776 (GRCm39) I55T possibly damaging Het
Hecw2 T C 1: 53,953,031 (GRCm39) probably null Het
Hnrnph1 A C 11: 50,270,383 (GRCm39) E62D probably benign Het
Itga2 A G 13: 115,012,095 (GRCm39) V274A probably damaging Het
Lctl A T 9: 64,038,861 (GRCm39) M317L probably benign Het
Lrp6 T C 6: 134,463,471 (GRCm39) D570G probably damaging Het
Lrrc9 G T 12: 72,496,490 (GRCm39) M39I probably damaging Het
Ltbp2 A T 12: 84,877,419 (GRCm39) I402N probably damaging Het
Mst1 G A 9: 107,959,748 (GRCm39) G297D probably damaging Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Nbr1 G A 11: 101,457,026 (GRCm39) R163Q probably damaging Het
Nlrp4f A G 13: 65,342,143 (GRCm39) F501L probably damaging Het
Nup133 A C 8: 124,649,153 (GRCm39) I563S probably benign Het
Oacyl T G 18: 65,858,369 (GRCm39) probably null Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Plxna2 C T 1: 194,326,203 (GRCm39) R46C possibly damaging Het
Ppp1r26 T A 2: 28,340,749 (GRCm39) D126E probably damaging Het
Prl6a1 A T 13: 27,500,282 (GRCm39) R84S possibly damaging Het
Ptprz1 C T 6: 23,001,746 (GRCm39) Q1279* probably null Het
Ptx4 C T 17: 25,344,166 (GRCm39) T472I possibly damaging Het
Rabgap1l A G 1: 160,528,358 (GRCm39) V416A probably damaging Het
Rbfox2 A T 15: 76,989,834 (GRCm39) D231E probably benign Het
Reln A T 5: 22,432,636 (GRCm39) F121L possibly damaging Het
Rfx7 G A 9: 72,524,054 (GRCm39) V415I probably benign Het
Scaf4 A T 16: 90,026,964 (GRCm39) M951K unknown Het
Sdf4 T C 4: 156,080,977 (GRCm39) probably null Het
Sec16a T C 2: 26,331,863 (GRCm39) T51A probably damaging Het
Sema3a A G 5: 13,607,008 (GRCm39) N281S probably damaging Het
Snai2 G A 16: 14,524,754 (GRCm39) V87I possibly damaging Het
Spata31f1e T C 4: 42,791,357 (GRCm39) E925G probably damaging Het
Synj2 T A 17: 6,040,514 (GRCm39) S197T possibly damaging Het
Syt6 A T 3: 103,495,018 (GRCm39) M328L probably benign Het
Tdrd12 A G 7: 35,177,516 (GRCm39) V946A unknown Het
Trat1 A T 16: 48,574,657 (GRCm39) probably null Het
Vmn1r75 T A 7: 11,614,997 (GRCm39) I243K possibly damaging Het
Vmn2r83 G A 10: 79,327,771 (GRCm39) C793Y probably damaging Het
Wnt9a G A 11: 59,219,583 (GRCm39) G203D probably damaging Het
Xrn2 T C 2: 146,871,676 (GRCm39) I366T probably damaging Het
Zfp280d A G 9: 72,269,224 (GRCm39) D787G possibly damaging Het
Zfp706 T C 15: 37,002,169 (GRCm39) T53A probably damaging Het
Other mutations in Kdm5d
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0013:Kdm5d UTSW Y 941,715 (GRCm39) missense probably benign 0.37
R0013:Kdm5d UTSW Y 941,715 (GRCm39) missense probably benign 0.37
R0426:Kdm5d UTSW Y 942,437 (GRCm39) splice site probably benign
R0486:Kdm5d UTSW Y 927,107 (GRCm39) missense probably damaging 1.00
R0620:Kdm5d UTSW Y 927,330 (GRCm39) missense probably damaging 0.98
R0781:Kdm5d UTSW Y 910,539 (GRCm39) missense probably damaging 1.00
R1015:Kdm5d UTSW Y 941,687 (GRCm39) missense possibly damaging 0.95
R1110:Kdm5d UTSW Y 910,539 (GRCm39) missense probably damaging 1.00
R1163:Kdm5d UTSW Y 898,029 (GRCm39) missense probably benign 0.18
R1203:Kdm5d UTSW Y 941,011 (GRCm39) missense probably damaging 1.00
R1238:Kdm5d UTSW Y 941,282 (GRCm39) missense probably damaging 1.00
R1723:Kdm5d UTSW Y 927,753 (GRCm39) missense probably damaging 1.00
R1842:Kdm5d UTSW Y 927,798 (GRCm39) missense probably damaging 1.00
R1885:Kdm5d UTSW Y 940,781 (GRCm39) splice site probably null
R2131:Kdm5d UTSW Y 941,483 (GRCm39) missense probably benign 0.02
R2571:Kdm5d UTSW Y 940,932 (GRCm39) missense probably benign 0.11
R2931:Kdm5d UTSW Y 942,992 (GRCm39) missense probably benign 0.18
R3123:Kdm5d UTSW Y 900,558 (GRCm39) missense possibly damaging 0.63
R3919:Kdm5d UTSW Y 939,914 (GRCm39) missense probably damaging 1.00
R4018:Kdm5d UTSW Y 910,441 (GRCm39) splice site probably benign
R4031:Kdm5d UTSW Y 916,910 (GRCm39) missense probably damaging 1.00
R4403:Kdm5d UTSW Y 899,830 (GRCm39) missense probably damaging 1.00
R4571:Kdm5d UTSW Y 927,110 (GRCm39) missense probably damaging 1.00
R4583:Kdm5d UTSW Y 914,134 (GRCm39) missense probably damaging 1.00
R4962:Kdm5d UTSW Y 940,624 (GRCm39) missense probably damaging 1.00
R5105:Kdm5d UTSW Y 941,752 (GRCm39) missense probably benign 0.00
R5249:Kdm5d UTSW Y 916,692 (GRCm39) missense probably damaging 1.00
R5367:Kdm5d UTSW Y 941,645 (GRCm39) missense probably benign 0.05
R5373:Kdm5d UTSW Y 927,995 (GRCm39) missense probably benign 0.09
R5374:Kdm5d UTSW Y 927,995 (GRCm39) missense probably benign 0.09
R5876:Kdm5d UTSW Y 900,525 (GRCm39) missense probably damaging 1.00
R5909:Kdm5d UTSW Y 941,306 (GRCm39) missense probably benign 0.01
R6014:Kdm5d UTSW Y 921,528 (GRCm39) missense probably benign 0.45
R6109:Kdm5d UTSW Y 921,501 (GRCm39) missense probably damaging 1.00
R6251:Kdm5d UTSW Y 921,693 (GRCm39) missense probably damaging 1.00
R6349:Kdm5d UTSW Y 916,847 (GRCm39) missense probably damaging 0.99
R6450:Kdm5d UTSW Y 927,056 (GRCm39) missense probably damaging 1.00
R6595:Kdm5d UTSW Y 939,829 (GRCm39) missense probably benign
R6628:Kdm5d UTSW Y 900,525 (GRCm39) missense probably damaging 1.00
R6745:Kdm5d UTSW Y 927,112 (GRCm39) missense probably benign 0.28
R6867:Kdm5d UTSW Y 927,425 (GRCm39) missense probably benign
R6963:Kdm5d UTSW Y 937,975 (GRCm39) missense probably benign 0.01
R7163:Kdm5d UTSW Y 899,940 (GRCm39) missense probably damaging 1.00
R7374:Kdm5d UTSW Y 941,491 (GRCm39) missense probably benign 0.41
R7483:Kdm5d UTSW Y 914,044 (GRCm39) missense possibly damaging 0.50
R7815:Kdm5d UTSW Y 940,702 (GRCm39) missense probably damaging 1.00
R7835:Kdm5d UTSW Y 900,558 (GRCm39) missense possibly damaging 0.63
R8057:Kdm5d UTSW Y 927,355 (GRCm39) missense possibly damaging 0.48
R8080:Kdm5d UTSW Y 910,742 (GRCm39) missense probably benign 0.01
R8130:Kdm5d UTSW Y 940,658 (GRCm39) missense possibly damaging 0.75
R8213:Kdm5d UTSW Y 941,515 (GRCm39) missense probably damaging 1.00
R8261:Kdm5d UTSW Y 936,929 (GRCm39) missense probably damaging 0.99
R8344:Kdm5d UTSW Y 942,477 (GRCm39) missense probably benign 0.05
R8348:Kdm5d UTSW Y 914,056 (GRCm39) missense probably benign 0.00
R8445:Kdm5d UTSW Y 916,874 (GRCm39) missense probably damaging 1.00
R8448:Kdm5d UTSW Y 914,056 (GRCm39) missense probably benign 0.00
R8754:Kdm5d UTSW Y 941,594 (GRCm39) missense probably damaging 1.00
R9203:Kdm5d UTSW Y 940,981 (GRCm39) missense probably damaging 0.99
R9259:Kdm5d UTSW Y 942,640 (GRCm39) missense possibly damaging 0.84
R9541:Kdm5d UTSW Y 910,801 (GRCm39) missense probably damaging 1.00
R9668:Kdm5d UTSW Y 943,075 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- TGTCCTCATCGATGAATGCC -3'
(R):5'- TCCAGCTGTTTCAACAAAGC -3'

Sequencing Primer
(F):5'- CTCATCGATGAATGCCTCTGCAAC -3'
(R):5'- TCCTCAGAAGCTAGAGCCTG -3'
Posted On 2019-10-17