Incidental Mutation 'R5135:Kdm5b'
ID 396093
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 043261-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R5135 (G1)
Quality Score 219
Status Validated
Chromosome 1
Chromosomal Location 134560171-134635285 bp(+) (GRCm38)
Type of Mutation intron
DNA Base Change (assembly) T to A at 134588746 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 benign
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 noncoding transcript
Transcript: ENSMUST00000112197
SMART Domains Protein: ENSMUSP00000107816
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 225 236 N/A INTRINSIC
PHD 308 354 6.15e-14 SMART
JmjC 450 595 2.6e-24 SMART
Predicted Effect probably benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186128
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (82/84)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik T C 1: 184,033,506 (GRCm38) S119G probably benign Het
4930553M12Rik G T 4: 88,868,271 (GRCm38) H37N unknown Het
Adam10 T A 9: 70,766,074 (GRCm38) C496S probably damaging Het
Akap2 G T 4: 57,855,912 (GRCm38) A414S probably benign Het
Aldh18a1 A C 19: 40,554,817 (GRCm38) probably benign Het
Alox5 A G 6: 116,413,786 (GRCm38) F468S probably benign Het
Ankrd50 T C 3: 38,455,803 (GRCm38) H805R probably damaging Het
Ap2s1 T A 7: 16,747,323 (GRCm38) D72E probably damaging Het
Apaf1 T C 10: 91,060,094 (GRCm38) Y372C probably damaging Het
Apob C T 12: 8,010,086 (GRCm38) T2823I probably damaging Het
Bhmt A G 13: 93,627,323 (GRCm38) V70A probably damaging Het
Cdc42bpg T A 19: 6,320,618 (GRCm38) L1247H probably damaging Het
Cel A G 2: 28,559,423 (GRCm38) V264A probably benign Het
Celsr2 T C 3: 108,398,659 (GRCm38) N2043S probably damaging Het
Clca4a A T 3: 144,954,946 (GRCm38) W706R probably damaging Het
Col22a1 G T 15: 71,799,337 (GRCm38) P1058Q unknown Het
Cyp4a14 A G 4: 115,489,960 (GRCm38) probably null Het
Dhx30 T G 9: 110,098,795 (GRCm38) R55S probably damaging Het
Dlgap5 C T 14: 47,399,665 (GRCm38) R452H probably damaging Het
Dnah12 T A 14: 26,770,477 (GRCm38) D1191E probably damaging Het
Dock3 A T 9: 106,932,997 (GRCm38) I164N probably damaging Het
Edrf1 T A 7: 133,651,044 (GRCm38) M436K probably benign Het
Eif2ak2 T A 17: 78,866,345 (GRCm38) Y268F probably damaging Het
Evi2a G A 11: 79,527,451 (GRCm38) T111M possibly damaging Het
Fzd4 A G 7: 89,407,501 (GRCm38) E252G probably damaging Het
Gcm2 A G 13: 41,102,959 (GRCm38) V438A probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm38) C6R probably benign Het
Gm21994 A T 2: 150,255,490 (GRCm38) Y34* probably null Het
Gm4787 G C 12: 81,377,830 (GRCm38) T518S probably benign Het
Gm4846 T C 1: 166,483,982 (GRCm38) D436G probably damaging Het
Gm5414 T A 15: 101,627,768 (GRCm38) I141F probably damaging Het
Gm6185 T A 1: 161,198,231 (GRCm38) noncoding transcript Het
Grip2 T C 6: 91,773,916 (GRCm38) E776G possibly damaging Het
H2-Ob T A 17: 34,243,516 (GRCm38) V160E probably benign Het
Hormad1 T C 3: 95,585,220 (GRCm38) probably benign Het
Ighv2-1 A T 12: 113,574,462 (GRCm38) probably benign Het
Igkv4-92 A T 6: 68,755,554 (GRCm38) C14S probably benign Het
Iqsec3 T C 6: 121,383,919 (GRCm38) I993M probably damaging Het
Kitl T C 10: 100,088,222 (GRCm38) probably null Het
Klhl26 G T 8: 70,452,718 (GRCm38) R100S probably benign Het
Kpna4 C T 3: 69,092,809 (GRCm38) probably null Het
Lama5 T A 2: 180,202,220 (GRCm38) N383Y possibly damaging Het
Large1 T G 8: 72,818,096 (GRCm38) I685L probably benign Het
Larp4b A G 13: 9,170,737 (GRCm38) E590G probably damaging Het
Liph A T 16: 21,956,165 (GRCm38) C425* probably null Het
Lrrc31 A T 3: 30,684,890 (GRCm38) C327* probably null Het
Lrrc36 T C 8: 105,463,898 (GRCm38) V733A probably benign Het
Mmel1 T A 4: 154,882,324 (GRCm38) I83K probably benign Het
Myo16 G T 8: 10,476,114 (GRCm38) V885L probably benign Het
Naip2 A T 13: 100,179,440 (GRCm38) N277K probably damaging Het
Ncapg2 T A 12: 116,427,786 (GRCm38) I485N possibly damaging Het
Npc1l1 A T 11: 6,224,245 (GRCm38) Y687N possibly damaging Het
Obscn A T 11: 59,129,653 (GRCm38) V922E probably damaging Het
Oc90 A G 15: 65,883,830 (GRCm38) S223P probably benign Het
Olfr1 AGCGGTCGTAGGC AGC 11: 73,395,654 (GRCm38) probably null Het
Olfr1253 A T 2: 89,751,895 (GRCm38) L311H possibly damaging Het
Olfr1508 T C 14: 52,463,854 (GRCm38) I52V probably benign Het
Pdlim5 C T 3: 142,304,365 (GRCm38) R174H probably benign Het
Pex5l G T 3: 32,955,831 (GRCm38) A386E probably damaging Het
Plcxd1 T A 5: 110,101,363 (GRCm38) probably benign Het
Pramef8 T G 4: 143,419,009 (GRCm38) S349R probably benign Het
Prl8a1 A T 13: 27,579,819 (GRCm38) probably null Het
Ryr2 G T 13: 11,662,130 (GRCm38) N3278K probably benign Het
Sacm1l A G 9: 123,577,025 (GRCm38) M324V probably benign Het
Sdad1 T C 5: 92,303,934 (GRCm38) T143A probably benign Het
Sec11a A T 7: 80,923,064 (GRCm38) probably benign Het
Sema6a A G 18: 47,291,172 (GRCm38) V223A probably damaging Het
Serpinb6c A G 13: 33,880,097 (GRCm38) V325A probably damaging Het
Slc4a2 G A 5: 24,430,127 (GRCm38) A177T possibly damaging Het
Slc5a4a A G 10: 76,147,594 (GRCm38) N22D unknown Het
Stard13 C T 5: 151,062,767 (GRCm38) W308* probably null Het
Tanc2 C T 11: 105,857,553 (GRCm38) L504F possibly damaging Het
Tfap2e G T 4: 126,720,544 (GRCm38) N282K probably damaging Het
Uhrf1bp1l T C 10: 89,789,355 (GRCm38) I48T probably damaging Het
Usp36 G T 11: 118,264,905 (GRCm38) T682K possibly damaging Het
Zc3h11a T C 1: 133,633,789 (GRCm38) T315A probably benign Het
Zfa-ps T A 10: 52,543,022 (GRCm38) noncoding transcript Het
Zfp663 A T 2: 165,353,670 (GRCm38) C210S possibly damaging Het
Zfp747 T C 7: 127,374,394 (GRCm38) I201M probably damaging Het
Zic4 C T 9: 91,384,152 (GRCm38) T276M 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
R1966:Kdm5b UTSW 1 134,613,873 (GRCm38) splice site probably null
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
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 PCR Primer
(F):5'- CACTGTCAAAGGTGCTGTTC -3'
(R):5'- GGTAGCTCCAATACTCACCCTC -3'

Sequencing Primer
(F):5'- ACCTTCAAATTAATAGCTTAGCTGG -3'
(R):5'- ACCCTCAGACTGTCTCCAG -3'
Posted On 2016-06-21