Incidental Mutation 'R8872:Kdm5a'
ID 676351
Institutional Source Beutler Lab
Gene Symbol Kdm5a
Ensembl Gene ENSMUSG00000030180
Gene Name lysine demethylase 5A
Synonyms Rbbp2, Jarid1a, RBP2
MMRRC Submission 068743-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8872 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 120341085-120421535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 120365101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 334 (D334A)
Ref Sequence ENSEMBL: ENSMUSP00000005108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005108] [ENSMUST00000132009] [ENSMUST00000135802] [ENSMUST00000203373]
AlphaFold Q3UXZ9
Predicted Effect probably damaging
Transcript: ENSMUST00000005108
AA Change: D334A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005108
Gene: ENSMUSG00000030180
AA Change: D334A

DomainStartEndE-ValueType
JmjN 18 59 4.06e-20 SMART
ARID 81 170 4.76e-35 SMART
BRIGHT 85 175 2.48e-31 SMART
PHD 295 341 1.16e-14 SMART
Blast:JmjC 384 436 2e-22 BLAST
JmjC 437 603 5.88e-73 SMART
low complexity region 638 651 N/A INTRINSIC
Pfam:zf-C5HC2 676 729 1.3e-21 PFAM
Pfam:PLU-1 740 1072 1.2e-104 PFAM
low complexity region 1091 1119 N/A INTRINSIC
PHD 1163 1216 1.37e-11 SMART
low complexity region 1269 1280 N/A INTRINSIC
low complexity region 1337 1351 N/A INTRINSIC
low complexity region 1403 1414 N/A INTRINSIC
low complexity region 1494 1512 N/A INTRINSIC
coiled coil region 1534 1579 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000132009
AA Change: D334A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145375
Gene: ENSMUSG00000030180
AA Change: D334A

DomainStartEndE-ValueType
JmjN 18 59 4.06e-20 SMART
ARID 81 170 4.76e-35 SMART
BRIGHT 85 175 2.48e-31 SMART
PHD 295 341 1.16e-14 SMART
JmjC 437 603 1.47e-64 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135802
AA Change: D334A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145021
Gene: ENSMUSG00000030180
AA Change: D334A

DomainStartEndE-ValueType
JmjN 18 59 1.7e-22 SMART
ARID 81 170 3.6e-39 SMART
BRIGHT 85 175 1.2e-33 SMART
PHD 295 341 7.3e-17 SMART
Blast:JmjC 384 436 2e-22 BLAST
JmjC 437 603 2.2e-75 SMART
low complexity region 638 651 N/A INTRINSIC
Pfam:zf-C5HC2 676 728 6.3e-15 PFAM
Pfam:PLU-1 741 811 9.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203373
SMART Domains Protein: ENSMUSP00000144720
Gene: ENSMUSG00000030180

DomainStartEndE-ValueType
BRIGHT 1 53 8.4e-4 SMART
Blast:JmjC 58 153 3e-56 BLAST
PDB:2E6R|A 121 152 4e-9 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body size, abnormal involuntary movement and quantitative changes in the hematopoietic stem cell and myeloid progenitor compartments, consistent with enhanced survival and increased cycling. Neonatalsurvival is sensitive to genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A G 17: 48,401,164 (GRCm39) S150G possibly damaging Het
Alpk2 A T 18: 65,413,977 (GRCm39) S1579R probably damaging Het
Ank2 C T 3: 126,791,525 (GRCm39) E814K possibly damaging Het
Cep57 A G 9: 13,737,980 (GRCm39) probably benign Het
Cntnap4 A T 8: 113,585,759 (GRCm39) R1127S possibly damaging Het
Comt C A 16: 18,245,239 (GRCm39) probably benign Het
Crlf3 T C 11: 79,938,440 (GRCm39) N399S Het
Crls1 T A 2: 132,691,819 (GRCm39) S115T probably benign Het
Dixdc1 A G 9: 50,614,453 (GRCm39) S199P possibly damaging Het
Dsc3 T C 18: 20,122,679 (GRCm39) T82A probably benign Het
Efcab3 T G 11: 104,760,880 (GRCm39) L2411R probably benign Het
Exosc6 T A 8: 111,783,784 (GRCm39) V261E probably damaging Het
Fbxw17 C T 13: 50,586,300 (GRCm39) S361L probably benign Het
Gfap T A 11: 102,786,620 (GRCm39) N157Y possibly damaging Het
Gigyf2 A T 1: 87,307,725 (GRCm39) D177V unknown Het
Gls2 A T 10: 128,040,535 (GRCm39) Q312L probably benign Het
Gpr155 C T 2: 73,197,936 (GRCm39) V395I probably benign Het
Greb1l A T 18: 10,529,684 (GRCm39) M889L probably benign Het
Gucy1a1 T A 3: 82,016,049 (GRCm39) D313V probably damaging Het
H2-T5 T A 17: 36,476,293 (GRCm39) I324F probably benign Het
Herpud1 C T 8: 95,113,213 (GRCm39) probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Il27 A C 7: 126,190,194 (GRCm39) L140R probably damaging Het
Jarid2 T C 13: 45,055,984 (GRCm39) S397P possibly damaging Het
Lman2 T C 13: 55,496,197 (GRCm39) T283A probably benign Het
Lrfn2 C T 17: 49,378,277 (GRCm39) Q453* probably null Het
Lrrfip2 A G 9: 111,034,824 (GRCm39) E171G possibly damaging Het
Mboat1 T A 13: 30,410,397 (GRCm39) Y285N probably damaging Het
Med15 C A 16: 17,470,605 (GRCm39) S734I probably damaging Het
Mgat4c T A 10: 102,224,146 (GRCm39) I120N probably damaging Het
Ms4a4d T C 19: 11,530,251 (GRCm39) M104T possibly damaging Het
Mtf2 A T 5: 108,247,051 (GRCm39) M330L probably benign Het
Myoc T C 1: 162,475,013 (GRCm39) V188A probably benign Het
Nos2 T A 11: 78,839,949 (GRCm39) I686N probably damaging Het
Npffr1 T C 10: 61,461,794 (GRCm39) V310A probably benign Het
Nrap T C 19: 56,308,627 (GRCm39) *1729W probably null Het
Odam A G 5: 88,035,797 (GRCm39) probably null Het
Olfm4 G T 14: 80,258,943 (GRCm39) R397L probably damaging Het
Or1p1c T G 11: 74,160,120 (GRCm39) probably benign Het
Polr1b T C 2: 128,957,613 (GRCm39) V556A probably damaging Het
Prl3d3 A G 13: 27,346,324 (GRCm39) D186G possibly damaging Het
Psmc5 C A 11: 106,152,746 (GRCm39) Y189* probably null Het
Rasgrp4 A G 7: 28,838,521 (GRCm39) Y123C possibly damaging Het
Rtn4 A G 11: 29,658,633 (GRCm39) E929G probably benign Het
Scrn2 A T 11: 96,922,961 (GRCm39) I135F probably damaging Het
Sec24d T A 3: 123,148,585 (GRCm39) probably benign Het
Secisbp2l T C 2: 125,594,892 (GRCm39) T523A probably benign Het
Skic3 T C 13: 76,333,326 (GRCm39) L1525P probably damaging Het
Slain1 T A 14: 103,925,841 (GRCm39) probably null Het
Slc22a29 A G 19: 8,137,931 (GRCm39) V548A probably damaging Het
Slc25a32 T C 15: 38,969,339 (GRCm39) I65V probably benign Het
Slc30a7 A T 3: 115,740,317 (GRCm39) M378K possibly damaging Het
Smarcd1 T A 15: 99,608,975 (GRCm39) I383N probably damaging Het
Spata31h1 A T 10: 82,128,619 (GRCm39) S1464T probably benign Het
Spdye4b G T 5: 143,187,815 (GRCm39) K156N probably damaging Het
Sptb A G 12: 76,658,813 (GRCm39) Y1241H probably benign Het
Ssu2 G A 6: 112,357,956 (GRCm39) T129I probably damaging Het
Supt16 A G 14: 52,411,544 (GRCm39) V613A probably benign Het
Sycp3 A T 10: 88,302,388 (GRCm39) E126V probably damaging Het
Tatdn2 A T 6: 113,681,170 (GRCm39) Y401F probably damaging Het
Tigd4 T C 3: 84,501,547 (GRCm39) S155P probably benign Het
Tnrc6b A G 15: 80,802,290 (GRCm39) N1502S probably benign Het
Ttf2 A G 3: 100,870,644 (GRCm39) V143A probably benign Het
Ttn T A 2: 76,618,747 (GRCm39) D16179V probably damaging Het
Vmn2r106 A T 17: 20,488,401 (GRCm39) M666K probably benign Het
Vwa5b1 A T 4: 138,305,956 (GRCm39) V914D probably damaging Het
Wnk2 T C 13: 49,210,960 (GRCm39) M1632V probably benign Het
Zbtb26 T A 2: 37,326,913 (GRCm39) N41I probably damaging Het
Zc3h12a T C 4: 125,020,412 (GRCm39) N144D probably damaging Het
Zfp266 A T 9: 20,411,275 (GRCm39) C301S probably benign Het
Zfp580 A G 7: 5,056,216 (GRCm39) H192R possibly damaging Het
Zfp748 A G 13: 67,689,914 (GRCm39) C449R probably damaging Het
Zp2 T C 7: 119,733,025 (GRCm39) I612V probably benign Het
Other mutations in Kdm5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Kdm5a APN 6 120,362,680 (GRCm39) critical splice donor site probably null 0.00
IGL00706:Kdm5a APN 6 120,383,597 (GRCm39) missense possibly damaging 0.44
IGL01361:Kdm5a APN 6 120,375,977 (GRCm39) missense probably damaging 1.00
IGL01402:Kdm5a APN 6 120,367,640 (GRCm39) nonsense probably null 0.00
IGL01924:Kdm5a APN 6 120,371,216 (GRCm39) critical splice donor site probably null 0.00
IGL01935:Kdm5a APN 6 120,385,284 (GRCm39) missense probably benign 0.02
IGL02165:Kdm5a APN 6 120,392,251 (GRCm39) missense probably damaging 1.00
IGL02472:Kdm5a APN 6 120,383,691 (GRCm39) splice site probably benign
IGL02506:Kdm5a APN 6 120,409,110 (GRCm39) missense probably damaging 0.99
IGL02604:Kdm5a APN 6 120,408,941 (GRCm39) missense probably benign
IGL02633:Kdm5a APN 6 120,341,680 (GRCm39) missense probably damaging 1.00
IGL02876:Kdm5a APN 6 120,367,605 (GRCm39) unclassified probably benign
IGL03009:Kdm5a APN 6 120,407,047 (GRCm39) missense probably damaging 0.98
IGL03027:Kdm5a APN 6 120,351,951 (GRCm39) splice site probably null
IGL03164:Kdm5a APN 6 120,415,980 (GRCm39) missense probably damaging 1.00
IGL03236:Kdm5a APN 6 120,415,949 (GRCm39) missense probably damaging 0.98
IGL03276:Kdm5a APN 6 120,379,669 (GRCm39) splice site probably benign
Anastasia UTSW 6 120,407,192 (GRCm39) nonsense probably null
Augmented UTSW 6 120,406,977 (GRCm39) intron probably benign
Calla_lily UTSW 6 120,381,983 (GRCm39) missense probably damaging 1.00
crocus UTSW 6 120,375,999 (GRCm39) missense probably null 0.98
Magnolia UTSW 6 120,375,939 (GRCm39) missense probably damaging 0.99
Saffron UTSW 6 120,366,581 (GRCm39) missense probably benign 0.19
Selbst UTSW 6 120,365,066 (GRCm39) nonsense probably null
R0320:Kdm5a UTSW 6 120,366,581 (GRCm39) missense probably benign 0.19
R0462:Kdm5a UTSW 6 120,379,561 (GRCm39) missense probably damaging 1.00
R0601:Kdm5a UTSW 6 120,379,632 (GRCm39) missense possibly damaging 0.76
R0628:Kdm5a UTSW 6 120,392,200 (GRCm39) missense probably damaging 1.00
R1024:Kdm5a UTSW 6 120,375,999 (GRCm39) missense probably null 0.98
R2013:Kdm5a UTSW 6 120,408,951 (GRCm39) missense probably benign 0.09
R2015:Kdm5a UTSW 6 120,408,951 (GRCm39) missense probably benign 0.09
R2061:Kdm5a UTSW 6 120,358,578 (GRCm39) missense probably benign
R2188:Kdm5a UTSW 6 120,383,601 (GRCm39) missense possibly damaging 0.59
R3923:Kdm5a UTSW 6 120,358,625 (GRCm39) missense probably benign 0.01
R4013:Kdm5a UTSW 6 120,371,067 (GRCm39) missense probably damaging 1.00
R4016:Kdm5a UTSW 6 120,371,067 (GRCm39) missense probably damaging 1.00
R4017:Kdm5a UTSW 6 120,371,067 (GRCm39) missense probably damaging 1.00
R4030:Kdm5a UTSW 6 120,382,074 (GRCm39) nonsense probably null
R4646:Kdm5a UTSW 6 120,351,938 (GRCm39) missense possibly damaging 0.55
R4737:Kdm5a UTSW 6 120,382,976 (GRCm39) intron probably benign
R4779:Kdm5a UTSW 6 120,346,060 (GRCm39) unclassified probably benign
R4836:Kdm5a UTSW 6 120,389,363 (GRCm39) missense probably damaging 1.00
R5129:Kdm5a UTSW 6 120,381,983 (GRCm39) missense probably damaging 1.00
R5182:Kdm5a UTSW 6 120,365,066 (GRCm39) nonsense probably null
R5183:Kdm5a UTSW 6 120,406,977 (GRCm39) intron probably benign
R5572:Kdm5a UTSW 6 120,389,336 (GRCm39) missense possibly damaging 0.69
R6110:Kdm5a UTSW 6 120,389,267 (GRCm39) missense probably damaging 1.00
R6132:Kdm5a UTSW 6 120,351,892 (GRCm39) missense probably damaging 1.00
R6198:Kdm5a UTSW 6 120,415,958 (GRCm39) missense probably benign 0.37
R6246:Kdm5a UTSW 6 120,408,871 (GRCm39) missense probably damaging 0.97
R6336:Kdm5a UTSW 6 120,375,939 (GRCm39) missense probably damaging 0.99
R6343:Kdm5a UTSW 6 120,359,894 (GRCm39) missense probably benign 0.01
R6612:Kdm5a UTSW 6 120,407,189 (GRCm39) missense probably damaging 0.99
R6647:Kdm5a UTSW 6 120,389,422 (GRCm39) missense probably benign 0.25
R7068:Kdm5a UTSW 6 120,407,176 (GRCm39) missense probably benign 0.40
R7369:Kdm5a UTSW 6 120,408,965 (GRCm39) missense possibly damaging 0.67
R7380:Kdm5a UTSW 6 120,382,879 (GRCm39) missense probably benign 0.35
R7411:Kdm5a UTSW 6 120,403,776 (GRCm39) missense probably damaging 1.00
R7521:Kdm5a UTSW 6 120,409,148 (GRCm39) nonsense probably null
R7570:Kdm5a UTSW 6 120,404,803 (GRCm39) missense probably damaging 0.99
R7647:Kdm5a UTSW 6 120,404,747 (GRCm39) missense probably benign 0.01
R7704:Kdm5a UTSW 6 120,404,025 (GRCm39) missense probably damaging 1.00
R7796:Kdm5a UTSW 6 120,367,724 (GRCm39) missense probably damaging 1.00
R7875:Kdm5a UTSW 6 120,375,979 (GRCm39) nonsense probably null
R8265:Kdm5a UTSW 6 120,383,557 (GRCm39) missense possibly damaging 0.72
R8297:Kdm5a UTSW 6 120,358,516 (GRCm39) missense probably benign 0.00
R8336:Kdm5a UTSW 6 120,396,407 (GRCm39) missense probably benign 0.00
R8471:Kdm5a UTSW 6 120,407,192 (GRCm39) nonsense probably null
R8890:Kdm5a UTSW 6 120,366,624 (GRCm39) missense probably damaging 1.00
R9028:Kdm5a UTSW 6 120,416,092 (GRCm39) missense probably benign
R9064:Kdm5a UTSW 6 120,403,869 (GRCm39) small deletion probably benign
R9114:Kdm5a UTSW 6 120,382,887 (GRCm39) nonsense probably null
R9316:Kdm5a UTSW 6 120,381,973 (GRCm39) missense probably damaging 1.00
R9353:Kdm5a UTSW 6 120,404,730 (GRCm39) missense probably benign 0.01
R9412:Kdm5a UTSW 6 120,365,991 (GRCm39) missense probably damaging 1.00
R9416:Kdm5a UTSW 6 120,365,056 (GRCm39) missense probably damaging 1.00
R9431:Kdm5a UTSW 6 120,392,253 (GRCm39) missense probably damaging 1.00
R9711:Kdm5a UTSW 6 120,367,658 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTATAGAAGTTCTGAGGAGAATTG -3'
(R):5'- AGCATCTAGATATCTCGAACATCCC -3'

Sequencing Primer
(F):5'- GGCCTTGAACTCAGAAATTTGCC -3'
(R):5'- AGATATCTCGAACATCCCTCTTC -3'
Posted On 2021-07-15