Incidental Mutation 'R5358:Kdm5b'
ID 424139
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 042937-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R5358 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 134560171-134635285 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 134607694 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 570 (R570*)
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
AA Change: R570*
SMART Domains Protein: ENSMUSP00000038138
Gene: ENSMUSG00000042207
AA Change: R570*

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 null
Transcript: ENSMUST00000112198
AA Change: R570*
SMART Domains Protein: ENSMUSP00000107817
Gene: ENSMUSG00000042207
AA Change: R570*

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 80,013,331 (GRCm38) V1842A probably damaging Het
Abi3 A T 11: 95,842,108 (GRCm38) F13L probably benign Het
Adgre4 A G 17: 55,818,758 (GRCm38) K538R probably benign Het
Bcas3 C T 11: 85,451,755 (GRCm38) H191Y probably benign Het
Bicdl2 A G 17: 23,667,564 (GRCm38) T376A probably benign Het
Ceacam18 C A 7: 43,637,073 (GRCm38) N123K possibly damaging Het
Celsr3 C T 9: 108,832,025 (GRCm38) R1357C possibly damaging Het
Chek2 T C 5: 110,841,282 (GRCm38) probably benign Het
Chmp7 A G 14: 69,721,235 (GRCm38) V210A probably benign Het
Chrm2 A G 6: 36,523,355 (GRCm38) K49R probably damaging Het
Daam1 T A 12: 71,952,459 (GRCm38) L623* probably null Het
Ddx31 T A 2: 28,863,770 (GRCm38) C448S probably damaging Het
Dnah7a A G 1: 53,547,172 (GRCm38) S1507P probably damaging Het
Dnah8 C A 17: 30,746,954 (GRCm38) T2420K probably damaging Het
Dyrk3 C T 1: 131,129,695 (GRCm38) R247H probably damaging Het
Exoc4 A G 6: 33,265,999 (GRCm38) E49G probably damaging Het
Fam196b G A 11: 34,402,788 (GRCm38) E277K probably damaging Het
Fam96b T C 8: 104,641,650 (GRCm38) N14S probably damaging Het
Fkbpl G A 17: 34,645,329 (GRCm38) A24T probably benign Het
Foxj3 A G 4: 119,619,399 (GRCm38) E258G probably damaging Het
Gata4 C T 14: 63,240,626 (GRCm38) A175T probably benign Het
Helz2 C T 2: 181,235,528 (GRCm38) E1106K probably damaging Het
Hip1 G T 5: 135,436,398 (GRCm38) S385R probably benign Het
Igsf9 C T 1: 172,484,511 (GRCm38) T8I probably benign Het
Katnal2 A G 18: 77,017,494 (GRCm38) Y86H possibly damaging Het
Kcnh6 A T 11: 106,027,591 (GRCm38) I756F possibly damaging Het
Kif16b T A 2: 142,740,969 (GRCm38) R545S probably damaging Het
Kif21b T A 1: 136,172,292 (GRCm38) I1528N possibly damaging Het
Kmt2a T C 9: 44,819,274 (GRCm38) probably benign Het
Ltbr G A 6: 125,312,794 (GRCm38) R146W probably damaging Het
Melk C T 4: 44,363,730 (GRCm38) T592M probably damaging Het
Mknk2 T C 10: 80,671,763 (GRCm38) T60A probably benign Het
Ncoa6 T C 2: 155,406,987 (GRCm38) K1466E probably damaging Het
Ntsr2 A C 12: 16,654,082 (GRCm38) T109P probably damaging Het
Nup214 C A 2: 32,017,146 (GRCm38) S995Y unknown Het
Olfr448 A T 6: 42,896,520 (GRCm38) Q23L probably benign Het
Pclo T A 5: 14,712,736 (GRCm38) L456* probably null Het
Pde5a A G 3: 122,748,176 (GRCm38) D105G probably damaging Het
Pik3c3 C A 18: 30,323,544 (GRCm38) P709H probably damaging Het
R3hdm4 C T 10: 79,912,458 (GRCm38) E162K possibly damaging Het
Rab3c T C 13: 110,061,963 (GRCm38) N179S possibly damaging Het
Setdb2 T A 14: 59,409,436 (GRCm38) R559S probably benign Het
Sf3b1 A G 1: 55,003,310 (GRCm38) Y474H probably benign Het
Slc6a6 G T 6: 91,735,174 (GRCm38) W228L probably benign Het
Slc8a2 T G 7: 16,157,303 (GRCm38) I750S probably damaging Het
Slco2b1 T A 7: 99,660,044 (GRCm38) I194L unknown Het
Smarcd1 C T 15: 99,703,247 (GRCm38) Q45* probably null Het
Srcap T G 7: 127,540,320 (GRCm38) L1271R probably damaging Het
Srsf12 A T 4: 33,209,330 (GRCm38) N9Y probably damaging Het
St7 T C 6: 17,819,318 (GRCm38) S74P probably damaging Het
Stxbp5l T A 16: 37,174,326 (GRCm38) E739V probably damaging Het
Sun3 T A 11: 9,031,496 (GRCm38) Q36L possibly damaging Het
Tbc1d32 T C 10: 56,170,937 (GRCm38) H545R possibly damaging Het
Tcp11 A T 17: 28,078,020 (GRCm38) C133S probably benign Het
Tm6sf2 T C 8: 70,074,289 (GRCm38) V36A possibly damaging Het
Tmem108 T C 9: 103,499,518 (GRCm38) Y244C probably damaging Het
Tra2a A T 6: 49,251,015 (GRCm38) probably benign Het
Trpm3 A T 19: 22,925,968 (GRCm38) I1031F probably damaging Het
Ttll3 A G 6: 113,401,331 (GRCm38) K381E probably benign Het
Uaca T C 9: 60,871,148 (GRCm38) V937A probably benign Het
Umod C T 7: 119,472,354 (GRCm38) G388D probably damaging Het
Vmn2r90 G A 17: 17,704,150 (GRCm38) probably null Het
Zfp644 G A 5: 106,635,675 (GRCm38) T1002I probably damaging Het
Zfp651 T A 9: 121,765,595 (GRCm38) F540Y probably damaging Het
Zfp738 A G 13: 67,671,012 (GRCm38) Y287H probably damaging Het
Zfyve16 T C 13: 92,508,263 (GRCm38) T1144A probably benign Het
Zgrf1 T C 3: 127,567,703 (GRCm38) probably null 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
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
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'- GGCAGAAACCAGATGATTCTAAC -3'
(R):5'- TGCATGGAATCCAGATGAGTAGC -3'

Sequencing Primer
(F):5'- gtgtgtgtgtAGTCCTGT -3'
(R):5'- TCCAGATGAGTAGCAAGGATATGTG -3'
Posted On 2016-08-04