Incidental Mutation 'R6226:Kdm5b'
ID 504312
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 044397-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R6226 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 134560171-134635285 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 134608878 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 612 (R612L)
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 damaging
Transcript: ENSMUST00000047714
AA Change: R612L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038138
Gene: ENSMUSG00000042207
AA Change: R612L

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 damaging
Transcript: ENSMUST00000112198
AA Change: R612L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107817
Gene: ENSMUSG00000042207
AA Change: R612L

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T C 13: 12,278,967 (GRCm38) T62A probably benign Het
Adam33 G A 2: 131,055,610 (GRCm38) T265I probably damaging Het
Afap1l2 T C 19: 56,916,128 (GRCm38) T654A probably benign Het
Agrn A G 4: 156,173,609 (GRCm38) S992P probably damaging Het
Anapc1 A G 2: 128,650,372 (GRCm38) F939L probably damaging Het
Anks1 G A 17: 28,057,330 (GRCm38) V1016I probably benign Het
Ankzf1 A G 1: 75,196,594 (GRCm38) T401A probably benign Het
Atad1 G T 19: 32,701,587 (GRCm38) D105E probably benign Het
AU019823 T C 9: 50,607,770 (GRCm38) T181A possibly damaging Het
Carmil2 A G 8: 105,689,032 (GRCm38) T313A possibly damaging Het
Cdk15 T C 1: 59,265,633 (GRCm38) V131A probably damaging Het
Cldnd1 A T 16: 58,731,300 (GRCm38) probably null Het
Col16a1 A T 4: 130,055,089 (GRCm38) probably benign Het
Cts3 T A 13: 61,568,721 (GRCm38) I34L probably benign Het
Dnah7b A C 1: 46,126,668 (GRCm38) K498Q probably benign Het
Dnase2b A G 3: 146,584,563 (GRCm38) Y218H probably benign Het
Dsg2 T A 18: 20,579,449 (GRCm38) V170D probably damaging Het
Dst T C 1: 34,270,874 (GRCm38) V1543A probably damaging Het
Ell3 A T 2: 121,441,777 (GRCm38) I72K probably damaging Het
Fank1 A G 7: 133,862,198 (GRCm38) Y41C probably benign Het
Foxd3 T C 4: 99,657,024 (GRCm38) Y134H probably damaging Het
Frmd6 A G 12: 70,863,911 (GRCm38) probably benign Het
Gale A G 4: 135,965,605 (GRCm38) E53G possibly damaging Het
Glis3 A G 19: 28,317,302 (GRCm38) S699P probably damaging Het
Gm12830 T A 4: 114,845,049 (GRCm38) M136K unknown Het
Grik3 T C 4: 125,659,789 (GRCm38) V438A probably benign Het
Gsap A G 5: 21,217,431 (GRCm38) N133D probably damaging Het
Gsg1 T A 6: 135,240,112 (GRCm38) D239V probably damaging Het
H2-T10 A T 17: 36,121,083 (GRCm38) W23R probably damaging Het
Itgae A G 11: 73,140,757 (GRCm38) T1100A probably benign Het
Kcnh7 A T 2: 62,777,559 (GRCm38) F559L probably damaging Het
Lrrc74a T A 12: 86,748,457 (GRCm38) N253K possibly damaging Het
Mcm3ap A G 10: 76,515,706 (GRCm38) H1961R possibly damaging Het
Ncam1 C T 9: 49,565,004 (GRCm38) E262K probably benign Het
Nckap1 A G 2: 80,508,781 (GRCm38) S968P possibly damaging Het
Nr2f2 T G 7: 70,359,996 (GRCm38) S112R probably benign Het
Nup93 T C 8: 94,286,537 (GRCm38) W137R probably damaging Het
Olfr1115 A G 2: 87,252,392 (GRCm38) S152G probably benign Het
Olfr1251 A T 2: 89,666,989 (GRCm38) L299H probably damaging Het
Olfr1395 A G 11: 49,148,833 (GRCm38) D192G possibly damaging Het
Olfr664 A T 7: 104,734,036 (GRCm38) F109L probably damaging Het
Olfr874 T A 9: 37,746,137 (GRCm38) M1K probably null Het
Olfr922 T C 9: 38,816,370 (GRCm38) I289T probably damaging Het
Otogl A T 10: 107,771,206 (GRCm38) Y2105* probably null Het
Pibf1 A G 14: 99,101,119 (GRCm38) S24G probably damaging Het
Pitx2 C T 3: 129,215,842 (GRCm38) R130W probably damaging Het
Pkd1l1 T C 11: 8,901,287 (GRCm38) N715S probably benign Het
Pou6f2 A T 13: 18,129,154 (GRCm38) I123N possibly damaging Het
Prss29 T A 17: 25,320,539 (GRCm38) H35Q possibly damaging Het
Ptpn21 A T 12: 98,715,172 (GRCm38) Y68N probably damaging Het
Ptpn21 A G 12: 98,680,116 (GRCm38) F1028L probably benign Het
Ptprk A G 10: 28,564,103 (GRCm38) T856A probably benign Het
Rnd2 C T 11: 101,468,999 (GRCm38) L57F probably damaging Het
Rpl22l1 A G 3: 28,806,527 (GRCm38) T13A possibly damaging Het
Rptn C G 3: 93,398,130 (GRCm38) H923Q possibly damaging Het
Sec14l5 G A 16: 5,176,565 (GRCm38) V408I probably damaging Het
Serpina5 T C 12: 104,101,778 (GRCm38) S33P possibly damaging Het
Sgip1 A G 4: 102,966,195 (GRCm38) N524S probably damaging Het
Shkbp1 C A 7: 27,351,980 (GRCm38) R218M probably null Het
Sorcs1 T A 19: 50,181,414 (GRCm38) I970F probably damaging Het
Spg11 A G 2: 122,088,262 (GRCm38) V962A possibly damaging Het
Sptbn1 A G 11: 30,136,054 (GRCm38) M1205T probably damaging Het
Sufu G A 19: 46,473,654 (GRCm38) V369M probably damaging Het
Tmem98 T C 11: 80,821,394 (GRCm38) F219S probably benign Het
Trim27 T C 13: 21,180,916 (GRCm38) probably benign Het
Trim43b T C 9: 89,091,275 (GRCm38) E135G possibly damaging Het
Ube2m A G 7: 13,035,888 (GRCm38) V110A probably damaging Het
Ugt2b36 A G 5: 87,092,130 (GRCm38) V132A probably damaging Het
Usp36 A T 11: 118,277,274 (GRCm38) S86T probably damaging Het
Zfp941 A T 7: 140,812,485 (GRCm38) D320E probably benign 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
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
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'- TTTAGAGCACAACAATAGACCCAGG -3'
(R):5'- CACAGTTAATGACATGGAATTGGAC -3'

Sequencing Primer
(F):5'- CAGGGCTCTGGGAATCTGAGTC -3'
(R):5'- ACTTCCAGAAATCTTACCAATTTCCG -3'
Posted On 2018-02-28