Incidental Mutation 'R7258:Kdm5b'
ID 564392
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 045386-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R7258 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 134560171-134635285 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 134621021 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 1088 (E1088A)
Ref Sequence ENSEMBL: ENSMUSP00000038138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047714] [ENSMUST00000112198]
AlphaFold Q80Y84
Predicted Effect probably damaging
Transcript: ENSMUST00000047714
AA Change: E1088A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038138
Gene: ENSMUSG00000042207
AA Change: E1088A

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 damaging
Transcript: ENSMUST00000112198
AA Change: E1088A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107817
Gene: ENSMUSG00000042207
AA Change: E1088A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (63/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110079O15Rik A C 1: 87,475,067 (GRCm38) I40L probably benign Het
4933402J07Rik A C 8: 87,586,177 (GRCm38) S197R probably damaging Het
Abcc12 T C 8: 86,560,857 (GRCm38) R120G possibly damaging Het
Abhd14b A G 9: 106,450,219 (GRCm38) I67V probably benign Het
Alpk1 A T 3: 127,724,466 (GRCm38) V62E probably damaging Het
Ankar A G 1: 72,651,727 (GRCm38) V1196A probably benign Het
B230118H07Rik T C 2: 101,610,592 (GRCm38) D22G probably null Het
Ccr5 A T 9: 124,125,274 (GRCm38) K305* probably null Het
Cdc42bpb T C 12: 111,326,084 (GRCm38) H339R probably damaging Het
Cep290 T G 10: 100,499,108 (GRCm38) M330R probably benign Het
Cyfip2 T C 11: 46,224,177 (GRCm38) Y901C probably benign Het
Ddx54 T G 5: 120,620,747 (GRCm38) Y352D probably damaging Het
Defa35 A T 8: 21,065,229 (GRCm38) H55L possibly damaging Het
Dnmt3b T A 2: 153,683,599 (GRCm38) probably null Het
Enpep A C 3: 129,332,075 (GRCm38) L136R probably benign Het
Epb41l2 G A 10: 25,484,287 (GRCm38) A516T probably damaging Het
Frmd4a A T 2: 4,300,953 (GRCm38) Q13L probably benign Het
Frmpd1 C A 4: 45,269,974 (GRCm38) D271E possibly damaging Het
Gbp5 T A 3: 142,506,781 (GRCm38) L410H probably damaging Het
Gipc2 T C 3: 152,165,715 (GRCm38) E58G probably damaging Het
Gm281 A T 14: 13,899,648 (GRCm38) F91L Het
Gm6309 A T 5: 146,168,296 (GRCm38) V269E probably benign Het
Grm5 A T 7: 88,074,706 (GRCm38) T735S probably damaging Het
H6pd T C 4: 149,996,362 (GRCm38) M9V probably benign Het
Hmcn1 A G 1: 150,715,823 (GRCm38) I1875T probably benign Het
Hrc T A 7: 45,336,296 (GRCm38) D290E possibly damaging Het
Ippk C A 13: 49,433,862 (GRCm38) Q136K probably benign Het
Kcnv1 T C 15: 45,109,315 (GRCm38) T391A probably damaging Het
L1td1 C T 4: 98,736,864 (GRCm38) A432V probably benign Het
Ly86 A G 13: 37,345,497 (GRCm38) D20G probably benign Het
Myo1g A G 11: 6,509,416 (GRCm38) I818T possibly damaging Het
Nms A G 1: 38,946,970 (GRCm38) T121A probably benign Het
Olfr1084 T A 2: 86,639,001 (GRCm38) K236* probably null Het
Olfr1414 A T 1: 92,511,176 (GRCm38) I284N possibly damaging Het
Olfr350 T A 2: 36,850,340 (GRCm38) I98K probably damaging Het
Olfr391-ps T G 11: 73,799,380 (GRCm38) I126L probably damaging Het
Olfr609 G C 7: 103,492,589 (GRCm38) C96W probably damaging Het
Olfr816 T A 10: 129,912,287 (GRCm38) probably benign Het
Pcdhb9 T C 18: 37,402,114 (GRCm38) L387P probably damaging Het
Pcsk1 G A 13: 75,093,186 (GRCm38) R95H probably damaging Het
Pde11a T C 2: 76,139,906 (GRCm38) D502G possibly damaging Het
Plekhg2 T C 7: 28,364,778 (GRCm38) D446G probably benign Het
Ptch1 T C 13: 63,573,294 (GRCm38) K54E not run Het
Rasal2 A T 1: 157,157,700 (GRCm38) L826M probably damaging Het
Rnf213 A G 11: 119,452,575 (GRCm38) I3589V Het
Sin3b T C 8: 72,750,208 (GRCm38) C757R probably benign Het
Slc41a1 T A 1: 131,842,042 (GRCm38) V300D probably benign Het
Snrpa1 T C 7: 66,070,143 (GRCm38) F162L probably damaging Het
Sox30 C A 11: 45,980,552 (GRCm38) A78E unknown Het
Ssc4d G T 5: 135,963,087 (GRCm38) A401E probably damaging Het
Steap3 A G 1: 120,243,986 (GRCm38) F130L possibly damaging Het
Stx5a A G 19: 8,754,907 (GRCm38) probably null Het
Tgfbr2 A T 9: 116,129,830 (GRCm38) I172N probably damaging Het
Tgm4 A G 9: 123,062,491 (GRCm38) D557G probably benign Het
Tmprss11c A G 5: 86,271,413 (GRCm38) S96P probably damaging Het
Trpa1 T G 1: 14,903,249 (GRCm38) T282P probably damaging Het
Uba5 A T 9: 104,062,933 (GRCm38) V5E unknown Het
Ugt2b36 A T 5: 87,080,903 (GRCm38) L427H probably damaging Het
Utp14b T A 1: 78,664,974 (GRCm38) H196Q probably benign Het
Vmn2r44 T A 7: 8,377,849 (GRCm38) L348F probably damaging Het
Vmn2r93 T G 17: 18,305,141 (GRCm38) L354V probably benign Het
Wwc2 T A 8: 47,842,999 (GRCm38) N1079Y unknown Het
Zfp653 T C 9: 22,065,820 (GRCm38) D145G probably benign Het
Zfp777 T C 6: 48,025,797 (GRCm38) E453G probably damaging Het
Zfp936 T A 7: 43,190,379 (GRCm38) H423Q probably damaging Het
Zfyve9 A T 4: 108,656,954 (GRCm38) Y496N possibly 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
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
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'- ACGTGTGCCAGTGTTAGAG -3'
(R):5'- AAGCCCTGAACTGAAGAGGC -3'

Sequencing Primer
(F):5'- GAGACACTCATTGAACTTGTTGC -3'
(R):5'- CCTGAGAACAGAGAGACTTATCTTAC -3'
Posted On 2019-06-26