Incidental Mutation 'IGL03027:Kdm5a'
ID408256
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm5a
Ensembl Gene ENSMUSG00000030180
Gene Namelysine (K)-specific demethylase 5A
SynonymsJarid1a, Rbbp2, RBP2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03027
Quality Score
Status
Chromosome6
Chromosomal Location120364124-120444574 bp(+) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) G to T at 120374990 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005108] [ENSMUST00000132009] [ENSMUST00000135802] [ENSMUST00000203373]
Predicted Effect probably null
Transcript: ENSMUST00000005108
SMART Domains Protein: ENSMUSP00000005108
Gene: ENSMUSG00000030180

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 benign
Transcript: ENSMUST00000132009
SMART Domains Protein: ENSMUSP00000145375
Gene: ENSMUSG00000030180

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 benign
Transcript: ENSMUST00000135802
SMART Domains Protein: ENSMUSP00000145021
Gene: ENSMUSG00000030180

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 null
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
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 A T 17: 43,296,714 Y108F probably damaging Het
Afap1 T C 5: 35,961,750 I243T probably benign Het
Ano5 A G 7: 51,566,277 D320G probably damaging Het
Arhgef1 T A 7: 24,923,732 I423K probably damaging Het
Casp9 A G 4: 141,812,273 E410G probably benign Het
Ccdc39 A C 3: 33,830,118 H358Q probably benign Het
Ces5a A T 8: 93,523,114 probably null Het
Clip1 A T 5: 123,621,856 M935K probably benign Het
Col12a1 A G 9: 79,641,551 Y2171H probably benign Het
Cyp2f2 A T 7: 27,132,571 N417I possibly damaging Het
Dock3 G A 9: 106,993,478 P579L probably damaging Het
Dock7 T C 4: 99,070,213 T334A possibly damaging Het
Dock7 T C 4: 98,977,927 M1209V probably benign Het
Dst A T 1: 34,186,025 I1171F possibly damaging Het
Eya1 G T 1: 14,170,966 H576N probably damaging Het
Fam117a A G 11: 95,377,573 T267A probably benign Het
Fam43a C T 16: 30,601,104 R169C probably damaging Het
Gabra6 T C 11: 42,315,153 H291R probably damaging Het
Gm7145 T C 1: 117,967,687 S27P probably benign Het
Gpt C T 15: 76,698,089 probably benign Het
Grip2 A G 6: 91,778,871 I586T probably benign Het
Hif1a C T 12: 73,940,477 P448L probably benign Het
Hmcn1 C T 1: 150,808,539 V427I probably benign Het
Ipo8 C A 6: 148,777,239 V954L probably benign Het
Klhl36 T A 8: 119,876,490 S495T probably benign Het
Lpar5 T A 6: 125,082,240 L308Q probably damaging Het
Lrp2 T G 2: 69,537,553 D205A probably benign Het
Lrriq1 A G 10: 103,227,196 I83T probably benign Het
Mapk8ip2 A T 15: 89,458,107 D507V probably damaging Het
Mical1 T C 10: 41,479,505 probably benign Het
Myef2 T A 2: 125,089,034 H539L possibly damaging Het
Myh7 T C 14: 54,983,550 E972G probably damaging Het
Naip5 A G 13: 100,223,016 Y571H probably benign Het
Nfasc T A 1: 132,610,469 N478I probably damaging Het
Olfr786 A G 10: 129,436,911 Y33C probably damaging Het
Pde2a A T 7: 101,481,420 Q89L probably benign Het
Ppard C A 17: 28,299,791 T422K possibly damaging Het
Ppp1r13b G T 12: 111,830,396 Y904* probably null Het
Ptx4 T A 17: 25,125,048 I424K possibly damaging Het
Rab19 A G 6: 39,383,993 D25G probably damaging Het
Rbl2 T A 8: 91,078,906 I197N possibly damaging Het
Rttn A G 18: 88,979,690 D273G probably damaging Het
Sec16a G A 2: 26,423,589 R1920C probably benign Het
Sec23b A T 2: 144,587,545 N731I possibly damaging Het
Serpinb9d G A 13: 33,202,715 W255* probably null Het
Sim2 G A 16: 94,109,492 probably benign Het
Tbl3 T C 17: 24,701,193 probably null Het
Tcrg-C1 G T 13: 19,214,393 G97* probably null Het
Tmem176b C T 6: 48,835,639 A131T probably damaging Het
Tmem181a T A 17: 6,298,219 V332D probably damaging Het
Tuba3b T A 6: 145,619,391 L195Q probably damaging Het
Ubc A T 5: 125,387,501 V254D probably damaging Het
Ube4b G T 4: 149,381,277 P239T probably damaging Het
Vars G T 17: 35,013,687 M862I probably damaging Het
Vmn2r66 T C 7: 84,995,569 probably benign Het
Wdr59 G A 8: 111,462,192 A720V probably damaging Het
Zfhx3 G A 8: 108,793,188 R314Q probably damaging Het
Other mutations in Kdm5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Kdm5a APN 6 120385719 critical splice donor site probably null 0.00
IGL00706:Kdm5a APN 6 120406636 missense possibly damaging 0.44
IGL01361:Kdm5a APN 6 120399016 missense probably damaging 1.00
IGL01402:Kdm5a APN 6 120390679 nonsense probably null 0.00
IGL01924:Kdm5a APN 6 120394255 critical splice donor site probably null 0.00
IGL01935:Kdm5a APN 6 120408323 missense probably benign 0.02
IGL02165:Kdm5a APN 6 120415290 missense probably damaging 1.00
IGL02472:Kdm5a APN 6 120406730 splice site probably benign
IGL02506:Kdm5a APN 6 120432149 missense probably damaging 0.99
IGL02604:Kdm5a APN 6 120431980 missense probably benign
IGL02633:Kdm5a APN 6 120364719 missense probably damaging 1.00
IGL02876:Kdm5a APN 6 120390644 unclassified probably benign
IGL03009:Kdm5a APN 6 120430086 missense probably damaging 0.98
IGL03164:Kdm5a APN 6 120439019 missense probably damaging 1.00
IGL03236:Kdm5a APN 6 120438988 missense probably damaging 0.98
IGL03276:Kdm5a APN 6 120402708 splice site probably benign
Augmented UTSW 6 120430016 intron probably benign
calla_lily UTSW 6 120405022 missense probably damaging 1.00
crocus UTSW 6 120399038 missense probably null 0.98
Magnolia UTSW 6 120398978 missense probably damaging 0.99
Selbst UTSW 6 120388105 nonsense probably null
R0320:Kdm5a UTSW 6 120389620 missense probably benign 0.19
R0462:Kdm5a UTSW 6 120402600 missense probably damaging 1.00
R0601:Kdm5a UTSW 6 120402671 missense possibly damaging 0.76
R0628:Kdm5a UTSW 6 120415239 missense probably damaging 1.00
R1024:Kdm5a UTSW 6 120399038 missense probably null 0.98
R2013:Kdm5a UTSW 6 120431990 missense probably benign 0.09
R2015:Kdm5a UTSW 6 120431990 missense probably benign 0.09
R2061:Kdm5a UTSW 6 120381617 missense probably benign
R2188:Kdm5a UTSW 6 120406640 missense possibly damaging 0.59
R3923:Kdm5a UTSW 6 120381664 missense probably benign 0.01
R4013:Kdm5a UTSW 6 120394106 missense probably damaging 1.00
R4016:Kdm5a UTSW 6 120394106 missense probably damaging 1.00
R4017:Kdm5a UTSW 6 120394106 missense probably damaging 1.00
R4030:Kdm5a UTSW 6 120405113 nonsense probably null
R4646:Kdm5a UTSW 6 120374977 missense possibly damaging 0.55
R4737:Kdm5a UTSW 6 120406015 intron probably benign
R4779:Kdm5a UTSW 6 120369099 unclassified probably benign
R4836:Kdm5a UTSW 6 120412402 missense probably damaging 1.00
R5129:Kdm5a UTSW 6 120405022 missense probably damaging 1.00
R5182:Kdm5a UTSW 6 120388105 nonsense probably null
R5183:Kdm5a UTSW 6 120430016 intron probably benign
R5572:Kdm5a UTSW 6 120412375 missense possibly damaging 0.69
R6110:Kdm5a UTSW 6 120412306 missense probably damaging 1.00
R6132:Kdm5a UTSW 6 120374931 missense probably damaging 1.00
R6198:Kdm5a UTSW 6 120438997 missense probably benign 0.37
R6246:Kdm5a UTSW 6 120431910 missense probably damaging 0.97
R6336:Kdm5a UTSW 6 120398978 missense probably damaging 0.99
R6343:Kdm5a UTSW 6 120382933 missense probably benign 0.01
R6612:Kdm5a UTSW 6 120430228 missense probably damaging 0.99
R6647:Kdm5a UTSW 6 120412461 missense probably benign 0.25
R7068:Kdm5a UTSW 6 120430215 missense probably benign 0.40
R7369:Kdm5a UTSW 6 120432004 missense possibly damaging 0.67
R7380:Kdm5a UTSW 6 120405918 missense probably benign 0.35
R7411:Kdm5a UTSW 6 120426815 missense probably damaging 1.00
R7521:Kdm5a UTSW 6 120432187 nonsense probably null
R7570:Kdm5a UTSW 6 120427842 missense probably damaging 0.99
Posted On2016-08-02