Incidental Mutation 'R1966:Kdm5b'
ID 218903
Institutional Source Beutler Lab
Gene Symbol Kdm5b
Ensembl Gene ENSMUSG00000042207
Gene Name lysine (K)-specific demethylase 5B
Synonyms Jarid1b, Plu1, Rb-Bp2, 2210016I17Rik, 2010009J12Rik, PLU-1, D1Ertd202e
MMRRC Submission 039979-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R1966 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 134560171-134635285 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 134613873 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047714] [ENSMUST00000112198]
AlphaFold Q80Y84
PDB Structure Solution structure of the ARID domain of Jarid1b protein [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000047714
SMART Domains Protein: ENSMUSP00000038138
Gene: ENSMUSG00000042207

DomainStartEndE-ValueType
low complexity region 7 30 N/A INTRINSIC
JmjN 31 72 2.87e-20 SMART
ARID 94 183 7.39e-32 SMART
BRIGHT 98 188 1.51e-35 SMART
low complexity region 228 239 N/A INTRINSIC
PHD 311 357 6.15e-14 SMART
JmjC 453 619 2.33e-67 SMART
Pfam:zf-C5HC2 692 744 2.2e-17 PFAM
Pfam:PLU-1 757 1088 5.6e-92 PFAM
low complexity region 1097 1109 N/A INTRINSIC
PHD 1178 1222 6.2e-10 SMART
low complexity region 1225 1236 N/A INTRINSIC
low complexity region 1406 1417 N/A INTRINSIC
low complexity region 1470 1484 N/A INTRINSIC
PHD 1486 1536 1.18e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112198
SMART Domains Protein: ENSMUSP00000107817
Gene: ENSMUSG00000042207

DomainStartEndE-ValueType
low complexity region 7 30 N/A INTRINSIC
JmjN 31 72 2.87e-20 SMART
ARID 94 183 7.39e-32 SMART
BRIGHT 98 188 1.51e-35 SMART
low complexity region 228 239 N/A INTRINSIC
PHD 311 357 6.15e-14 SMART
JmjC 453 619 2.33e-67 SMART
Pfam:zf-C5HC2 692 745 6.7e-21 PFAM
Pfam:PLU-1 756 1088 6e-94 PFAM
low complexity region 1097 1109 N/A INTRINSIC
PHD 1178 1222 6.2e-10 SMART
low complexity region 1225 1236 N/A INTRINSIC
low complexity region 1406 1417 N/A INTRINSIC
low complexity region 1470 1484 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein plays a role in the transcriptional repression or certain tumor suppressor genes and is upregulated in certain cancer cells. This protein may also play a role in genome stability and DNA repair. Homozygous mutant mice display decreased body weight, decreased female fertility, lower uterine weight, and a delay in mammary development. Knockout of this gene has also been associated with embryonic lethality. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased body weight, background-sensitive premature mortality, decreased female fertility, delayed mammary gland development, decreased serum estradiol levels, and reduced mammary epithelial cell proliferation in early puberty. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810013L24Rik A G 16: 8,830,581 (GRCm38) E41G possibly damaging Het
2410002F23Rik T A 7: 44,251,226 (GRCm38) V185E probably benign Het
Abca1 A C 4: 53,050,409 (GRCm38) V1608G probably damaging Het
Ap2b1 T C 11: 83,346,895 (GRCm38) I557T probably benign Het
Arhgef15 G T 11: 68,954,675 (GRCm38) P117Q probably damaging Het
Arhgef39 T C 4: 43,496,710 (GRCm38) S335G probably benign Het
Blm A T 7: 80,513,186 (GRCm38) F139Y possibly damaging Het
Cacna2d1 C T 5: 16,333,785 (GRCm38) R581* probably null Het
Cadps C A 14: 12,822,450 (GRCm38) E97* probably null Het
Cavin2 T A 1: 51,289,642 (GRCm38) L86Q probably damaging Het
Ccdc136 A G 6: 29,418,092 (GRCm38) E787G probably damaging Het
Ccdc39 T C 3: 33,826,480 (GRCm38) K446R probably damaging Het
Cdh23 T C 10: 60,323,582 (GRCm38) Y2138C probably damaging Het
Cdk12 T A 11: 98,204,090 (GRCm38) Y241* probably null Het
Clcn4 T A 7: 7,284,185 (GRCm38) *688L probably null Het
Cntnap1 T C 11: 101,180,386 (GRCm38) V375A possibly damaging Het
Coq5 T A 5: 115,294,831 (GRCm38) probably null Het
Cyp4b1 A G 4: 115,625,879 (GRCm38) I405T probably benign Het
Det1 T C 7: 78,843,218 (GRCm38) Y346C probably damaging Het
Enpp3 A T 10: 24,807,491 (GRCm38) V276E probably damaging Het
Epb41l2 G A 10: 25,441,768 (GRCm38) R61Q probably benign Het
Fam76b G A 9: 13,828,066 (GRCm38) probably null Het
Fbxo45 A T 16: 32,233,230 (GRCm38) D238E probably benign Het
Fnip2 G A 3: 79,493,472 (GRCm38) T314I probably benign Het
Fsip2 T C 2: 82,992,780 (GRCm38) S6286P possibly damaging Het
Gbf1 T C 19: 46,271,564 (GRCm38) F999L probably damaging Het
Gm14139 T A 2: 150,191,907 (GRCm38) D49E probably benign Het
Gnao1 C A 8: 93,944,199 (GRCm38) T102K probably benign Het
Gpatch2 T A 1: 187,322,301 (GRCm38) D76E probably damaging Het
Gpd1l A G 9: 114,914,394 (GRCm38) I146T probably benign Het
Grik2 A T 10: 49,355,909 (GRCm38) H508Q probably damaging Het
Hk3 A T 13: 55,014,455 (GRCm38) F112Y probably damaging Het
Hmcn2 T G 2: 31,389,329 (GRCm38) I1781S probably damaging Het
Inhba A T 13: 16,026,636 (GRCm38) K261M probably damaging Het
Jarid2 T A 13: 44,906,276 (GRCm38) N661K probably damaging Het
Kcna2 T C 3: 107,104,630 (GRCm38) S176P probably damaging Het
Kcnj3 A T 2: 55,437,331 (GRCm38) Q44L probably damaging Het
Kcns1 G T 2: 164,168,535 (GRCm38) F101L probably damaging Het
Klhl14 C T 18: 21,554,673 (GRCm38) G564D probably damaging Het
Klhl18 A T 9: 110,476,590 (GRCm38) V2E probably benign Het
Klhl6 T C 16: 19,982,822 (GRCm38) E61G probably damaging Het
Krt1 T C 15: 101,848,992 (GRCm38) D261G probably benign Het
Lama5 C A 2: 180,188,352 (GRCm38) C1896F probably damaging Het
Lrba A G 3: 86,605,868 (GRCm38) probably null Het
Lrch3 A G 16: 32,914,385 (GRCm38) T82A possibly damaging Het
Maml3 C G 3: 52,104,139 (GRCm38) G2A unknown Het
Mapkap1 T A 2: 34,518,679 (GRCm38) N34K probably damaging Het
Muc13 A T 16: 33,814,539 (GRCm38) I488F probably damaging Het
Muc5ac A G 7: 141,803,376 (GRCm38) D1129G possibly damaging Het
Nacc1 A T 8: 84,676,381 (GRCm38) N288K probably damaging Het
Nek1 T G 8: 61,016,296 (GRCm38) I129R probably damaging Het
Nf1 T A 11: 79,411,564 (GRCm38) S319R possibly damaging Het
Nle1 C T 11: 82,901,788 (GRCm38) G432D probably damaging Het
Nol4l A G 2: 153,529,455 (GRCm38) V103A probably benign Het
Oca2 A G 7: 56,414,467 (GRCm38) I737V probably damaging Het
Olfr1270 T C 2: 90,149,404 (GRCm38) S201G probably damaging Het
Olfr231 G T 1: 174,117,251 (GRCm38) S255* probably null Het
Olfr346 G A 2: 36,688,784 (GRCm38) V261I probably benign Het
Olfr358 A T 2: 37,004,948 (GRCm38) F222Y possibly damaging Het
Olfr630 G T 7: 103,755,168 (GRCm38) T139K probably damaging Het
Olfr655 A G 7: 104,596,801 (GRCm38) C127R probably damaging Het
Olfr750 T A 14: 51,071,157 (GRCm38) I79F probably damaging Het
Orc1 T A 4: 108,612,217 (GRCm38) I746N probably damaging Het
Pbxip1 A G 3: 89,445,488 (GRCm38) D147G probably damaging Het
Pirb A T 7: 3,717,638 (GRCm38) L287Q probably benign Het
Plin5 T A 17: 56,112,186 (GRCm38) D412V probably damaging Het
Plxna2 A T 1: 194,644,700 (GRCm38) Y314F possibly damaging Het
Ppid A T 3: 79,602,299 (GRCm38) K308* probably null Het
Prss38 T C 11: 59,373,484 (GRCm38) Y219C probably damaging Het
Ptx3 C T 3: 66,224,621 (GRCm38) R188C probably damaging Het
Ralgds T A 2: 28,545,875 (GRCm38) V504E probably damaging Het
Rere T C 4: 150,616,873 (GRCm38) Y1237H probably damaging Het
Rpp30 C T 19: 36,089,149 (GRCm38) S94L probably damaging Het
Rrp15 C T 1: 186,736,205 (GRCm38) V205I possibly damaging Het
Scpep1 A G 11: 88,952,414 (GRCm38) W73R probably damaging Het
Sec23ip A G 7: 128,755,353 (GRCm38) H376R probably damaging Het
Serping1 G T 2: 84,765,728 (GRCm38) T454K probably damaging Het
Shtn1 T G 19: 58,975,038 (GRCm38) Y615S probably benign Het
Slc20a2 C A 8: 22,545,537 (GRCm38) P184T probably damaging Het
Slc22a29 C A 19: 8,218,408 (GRCm38) R89L probably damaging Het
Slc2a2 A G 3: 28,719,485 (GRCm38) Q313R probably damaging Het
Tas2r122 A T 6: 132,711,194 (GRCm38) Y245* probably null Het
Ticrr C A 7: 79,694,735 (GRCm38) C1449* probably null Het
Tmem181a T C 17: 6,303,226 (GRCm38) V412A probably benign Het
Tmtc4 T A 14: 122,927,599 (GRCm38) E616V probably benign Het
Tnrc6b A G 15: 80,880,439 (GRCm38) K714R probably damaging Het
Trpm8 T A 1: 88,332,748 (GRCm38) probably null Het
Ubr2 T C 17: 46,954,919 (GRCm38) T1163A probably benign Het
Ubr4 A G 4: 139,451,244 (GRCm38) probably null Het
Ulk2 A T 11: 61,819,471 (GRCm38) probably null Het
Ulk4 T A 9: 121,257,116 (GRCm38) M350L probably benign Het
Vmn1r185 T C 7: 26,611,531 (GRCm38) E183G probably benign Het
Vmn1r76 T A 7: 11,930,514 (GRCm38) I223F probably damaging Het
Wdr27 T C 17: 14,934,599 (GRCm38) T19A possibly damaging Het
Wdr59 T G 8: 111,450,903 (GRCm38) T973P possibly damaging Het
Wnk2 A G 13: 49,039,011 (GRCm38) S664P probably damaging Het
Zfp120 A T 2: 150,117,398 (GRCm38) C335S probably damaging Het
Zfp30 C A 7: 29,792,452 (GRCm38) Q44K probably benign Het
Zfp541 T C 7: 16,079,071 (GRCm38) S550P probably benign Het
Zw10 C A 9: 49,068,833 (GRCm38) N421K probably damaging Het
Other mutations in Kdm5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Kdm5b APN 1 134,620,955 (GRCm38) missense probably damaging 1.00
IGL01458:Kdm5b APN 1 134,621,986 (GRCm38) missense possibly damaging 0.53
IGL01567:Kdm5b APN 1 134,602,540 (GRCm38) missense probably damaging 1.00
IGL01625:Kdm5b APN 1 134,617,968 (GRCm38) missense possibly damaging 0.74
IGL01970:Kdm5b APN 1 134,600,727 (GRCm38) missense probably damaging 1.00
IGL02183:Kdm5b APN 1 134,624,931 (GRCm38) missense probably benign 0.09
IGL02592:Kdm5b APN 1 134,624,853 (GRCm38) missense probably damaging 0.99
IGL02695:Kdm5b APN 1 134,604,485 (GRCm38) missense possibly damaging 0.94
IGL02697:Kdm5b APN 1 134,588,773 (GRCm38) splice site probably benign
IGL03036:Kdm5b APN 1 134,608,937 (GRCm38) missense probably damaging 1.00
IGL03056:Kdm5b APN 1 134,587,979 (GRCm38) missense probably damaging 0.99
IGL03206:Kdm5b APN 1 134,627,317 (GRCm38) missense probably benign
IGL03342:Kdm5b APN 1 134,602,576 (GRCm38) missense probably benign 0.00
IGL03388:Kdm5b APN 1 134,627,322 (GRCm38) missense probably benign
amaryllis UTSW 1 134,609,061 (GRCm38) critical splice donor site probably null
PIT4486001:Kdm5b UTSW 1 134,628,685 (GRCm38) missense probably damaging 1.00
R0233:Kdm5b UTSW 1 134,604,634 (GRCm38) splice site probably benign
R0334:Kdm5b UTSW 1 134,604,522 (GRCm38) missense probably damaging 0.99
R0504:Kdm5b UTSW 1 134,621,023 (GRCm38) critical splice donor site probably null
R0505:Kdm5b UTSW 1 134,602,571 (GRCm38) missense probably damaging 0.96
R0521:Kdm5b UTSW 1 134,618,033 (GRCm38) missense possibly damaging 0.65
R1004:Kdm5b UTSW 1 134,588,904 (GRCm38) missense possibly damaging 0.71
R1087:Kdm5b UTSW 1 134,600,637 (GRCm38) missense probably damaging 1.00
R1126:Kdm5b UTSW 1 134,613,991 (GRCm38) missense possibly damaging 0.90
R1221:Kdm5b UTSW 1 134,599,091 (GRCm38) missense probably damaging 0.98
R1230:Kdm5b UTSW 1 134,613,254 (GRCm38) missense probably damaging 1.00
R1345:Kdm5b UTSW 1 134,630,550 (GRCm38) missense possibly damaging 0.94
R1482:Kdm5b UTSW 1 134,624,897 (GRCm38) missense probably damaging 1.00
R1582:Kdm5b UTSW 1 134,624,853 (GRCm38) missense probably damaging 0.99
R1653:Kdm5b UTSW 1 134,602,481 (GRCm38) missense probably damaging 1.00
R1693:Kdm5b UTSW 1 134,597,576 (GRCm38) splice site probably benign
R1721:Kdm5b UTSW 1 134,613,181 (GRCm38) splice site probably benign
R1741:Kdm5b UTSW 1 134,618,017 (GRCm38) missense possibly damaging 0.82
R1762:Kdm5b UTSW 1 134,604,467 (GRCm38) nonsense probably null
R1820:Kdm5b UTSW 1 134,597,670 (GRCm38) missense possibly damaging 0.87
R1872:Kdm5b UTSW 1 134,624,994 (GRCm38) missense probably damaging 1.00
R2056:Kdm5b UTSW 1 134,613,214 (GRCm38) missense probably benign 0.05
R2059:Kdm5b UTSW 1 134,613,214 (GRCm38) missense probably benign 0.05
R2405:Kdm5b UTSW 1 134,609,016 (GRCm38) missense probably damaging 0.97
R3417:Kdm5b UTSW 1 134,587,977 (GRCm38) missense probably damaging 1.00
R3771:Kdm5b UTSW 1 134,613,345 (GRCm38) missense probably damaging 1.00
R3783:Kdm5b UTSW 1 134,630,542 (GRCm38) missense probably benign
R3803:Kdm5b UTSW 1 134,615,941 (GRCm38) missense probably benign 0.07
R3980:Kdm5b UTSW 1 134,619,670 (GRCm38) missense probably benign 0.11
R3983:Kdm5b UTSW 1 134,631,304 (GRCm38) missense possibly damaging 0.91
R4013:Kdm5b UTSW 1 134,627,329 (GRCm38) missense possibly damaging 0.86
R4162:Kdm5b UTSW 1 134,625,161 (GRCm38) missense probably benign 0.01
R4701:Kdm5b UTSW 1 134,606,012 (GRCm38) intron probably benign
R4791:Kdm5b UTSW 1 134,630,800 (GRCm38) missense possibly damaging 0.82
R4836:Kdm5b UTSW 1 134,593,315 (GRCm38) splice site probably null
R4924:Kdm5b UTSW 1 134,631,351 (GRCm38) missense probably benign 0.00
R5135:Kdm5b UTSW 1 134,588,746 (GRCm38) intron probably benign
R5248:Kdm5b UTSW 1 134,620,997 (GRCm38) missense probably benign 0.11
R5290:Kdm5b UTSW 1 134,622,099 (GRCm38) splice site probably null
R5358:Kdm5b UTSW 1 134,607,694 (GRCm38) nonsense probably null
R5388:Kdm5b UTSW 1 134,608,897 (GRCm38) nonsense probably null
R5396:Kdm5b UTSW 1 134,622,098 (GRCm38) splice site probably null
R5397:Kdm5b UTSW 1 134,622,098 (GRCm38) splice site probably null
R5398:Kdm5b UTSW 1 134,622,098 (GRCm38) splice site probably null
R5399:Kdm5b UTSW 1 134,622,098 (GRCm38) splice site probably null
R5529:Kdm5b UTSW 1 134,588,003 (GRCm38) missense probably damaging 1.00
R5540:Kdm5b UTSW 1 134,631,241 (GRCm38) missense probably damaging 0.98
R5661:Kdm5b UTSW 1 134,599,073 (GRCm38) missense probably benign 0.01
R5663:Kdm5b UTSW 1 134,630,635 (GRCm38) missense probably benign
R5822:Kdm5b UTSW 1 134,588,773 (GRCm38) splice site probably benign
R6226:Kdm5b UTSW 1 134,608,878 (GRCm38) missense probably damaging 0.99
R6368:Kdm5b UTSW 1 134,599,207 (GRCm38) missense probably damaging 1.00
R6681:Kdm5b UTSW 1 134,613,269 (GRCm38) missense possibly damaging 0.90
R6715:Kdm5b UTSW 1 134,609,061 (GRCm38) critical splice donor site probably null
R7132:Kdm5b UTSW 1 134,599,106 (GRCm38) missense probably damaging 1.00
R7202:Kdm5b UTSW 1 134,624,759 (GRCm38) missense probably benign
R7258:Kdm5b UTSW 1 134,621,021 (GRCm38) missense probably damaging 1.00
R7335:Kdm5b UTSW 1 134,560,439 (GRCm38) missense probably damaging 1.00
R7420:Kdm5b UTSW 1 134,604,497 (GRCm38) missense probably benign 0.14
R7426:Kdm5b UTSW 1 134,595,833 (GRCm38) missense probably benign 0.02
R7452:Kdm5b UTSW 1 134,624,948 (GRCm38) missense probably damaging 1.00
R7595:Kdm5b UTSW 1 134,608,966 (GRCm38) missense probably benign 0.00
R7612:Kdm5b UTSW 1 134,624,918 (GRCm38) nonsense probably null
R7704:Kdm5b UTSW 1 134,587,931 (GRCm38) missense probably damaging 1.00
R7846:Kdm5b UTSW 1 134,617,840 (GRCm38) missense probably damaging 1.00
R8115:Kdm5b UTSW 1 134,619,673 (GRCm38) missense possibly damaging 0.83
R8146:Kdm5b UTSW 1 134,625,126 (GRCm38) missense probably benign 0.05
R8160:Kdm5b UTSW 1 134,613,919 (GRCm38) missense probably damaging 1.00
R8527:Kdm5b UTSW 1 134,605,774 (GRCm38) missense possibly damaging 0.78
R8542:Kdm5b UTSW 1 134,605,774 (GRCm38) missense possibly damaging 0.78
R8930:Kdm5b UTSW 1 134,616,272 (GRCm38) missense probably damaging 1.00
R8932:Kdm5b UTSW 1 134,616,272 (GRCm38) missense probably damaging 1.00
R8950:Kdm5b UTSW 1 134,613,926 (GRCm38) missense possibly damaging 0.84
R9089:Kdm5b UTSW 1 134,607,768 (GRCm38) missense probably damaging 0.98
R9109:Kdm5b UTSW 1 134,600,755 (GRCm38) critical splice donor site probably null
R9133:Kdm5b UTSW 1 134,602,585 (GRCm38) missense probably benign
R9298:Kdm5b UTSW 1 134,600,755 (GRCm38) critical splice donor site probably null
R9423:Kdm5b UTSW 1 134,587,967 (GRCm38) missense possibly damaging 0.85
R9630:Kdm5b UTSW 1 134,585,233 (GRCm38) critical splice donor site probably null
R9670:Kdm5b UTSW 1 134,630,502 (GRCm38) nonsense probably null
X0063:Kdm5b UTSW 1 134,588,876 (GRCm38) missense probably benign 0.07
Z1176:Kdm5b UTSW 1 134,625,035 (GRCm38) missense probably damaging 1.00
Z1177:Kdm5b UTSW 1 134,595,798 (GRCm38) frame shift probably null
Predicted Primers
Posted On 2014-08-25