Incidental Mutation 'R7846:Kdm5b'
ID 606589
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 045900-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R7846 (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 A at 134617840 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 913 (R913H)
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: R913H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038138
Gene: ENSMUSG00000042207
AA Change: R913H

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: R913H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107817
Gene: ENSMUSG00000042207
AA Change: R913H

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: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 A G 5: 100,806,832 (GRCm38) V247A probably damaging Het
Acot13 G T 13: 24,818,150 (GRCm38) T103K probably damaging Het
Acsl6 A T 11: 54,361,075 (GRCm38) I683F probably damaging Het
Acss2 A T 2: 155,561,033 (GRCm38) H577L probably damaging Het
Ahctf1 A T 1: 179,787,073 (GRCm38) V382D probably damaging Het
Aldob T C 4: 49,538,858 (GRCm38) H220R probably damaging Het
Ankrd1 C T 19: 36,116,818 (GRCm38) V169M probably damaging Het
Atp5f1a G A 18: 77,781,315 (GRCm38) R413H possibly damaging Het
Cep76 A G 18: 67,629,905 (GRCm38) F283L probably damaging Het
Chrna5 A T 9: 55,005,107 (GRCm38) D397V probably benign Het
Coro7 T C 16: 4,670,536 (GRCm38) D90G probably damaging Het
Csnk1g3 A G 18: 53,948,105 (GRCm38) N383D probably benign Het
Cwf19l2 C A 9: 3,477,889 (GRCm38) Q865K probably damaging Het
Cyth2 C A 7: 45,810,954 (GRCm38) W149C probably damaging Het
Dgkh C A 14: 78,618,586 (GRCm38) R349L probably damaging Het
Dnajc1 G T 2: 18,219,893 (GRCm38) T383N possibly damaging Het
Extl3 A T 14: 65,075,732 (GRCm38) M667K probably damaging Het
Fam149a G T 8: 45,358,641 (GRCm38) A75E Het
Fgd4 T G 16: 16,422,726 (GRCm38) Q713P probably damaging Het
Frat2 T A 19: 41,847,776 (GRCm38) I46F probably damaging Het
Gm11639 T A 11: 104,714,745 (GRCm38) probably null Het
Gzmc A G 14: 56,231,560 (GRCm38) V234A probably damaging Het
H2-Q4 A G 17: 35,380,158 (GRCm38) N135D probably damaging Het
Ighv1-85 A T 12: 116,000,317 (GRCm38) V21D possibly damaging Het
Itprid1 A G 6: 55,978,335 (GRCm38) Q976R possibly damaging Het
Kcna6 A T 6: 126,739,020 (GRCm38) V302E probably damaging Het
Kdm3b G T 18: 34,809,240 (GRCm38) V795L possibly damaging Het
Lpp T A 16: 24,608,126 (GRCm38) M1K probably null Het
Med12l T C 3: 59,264,934 (GRCm38) S1704P probably damaging Het
Mfsd10 G T 5: 34,636,112 (GRCm38) S95* probably null Het
Napepld C T 5: 21,675,723 (GRCm38) E225K probably benign Het
Ndfip2 T C 14: 105,298,014 (GRCm38) F245L probably damaging Het
Oaf G A 9: 43,222,780 (GRCm38) R215C probably damaging Het
Olfr625-ps1 A G 7: 103,683,200 (GRCm38) I161V probably benign Het
Olfr911-ps1 A G 9: 38,524,379 (GRCm38) T216A probably benign Het
Or10k2 A G 8: 83,541,897 (GRCm38) H251R probably damaging Het
Or13a20 C T 7: 140,652,461 (GRCm38) H161Y probably damaging Het
Or51i1 A G 7: 104,021,529 (GRCm38) I263T possibly damaging Het
Or5p6 A G 7: 108,031,992 (GRCm38) I117T probably benign Het
Pcdhgb2 A T 18: 37,692,220 (GRCm38) I755F possibly damaging Het
Pde4dip A G 3: 97,715,174 (GRCm38) L1573P probably damaging Het
Peg3 A T 7: 6,710,651 (GRCm38) V524E probably damaging Het
Phc1 G T 6: 122,333,370 (GRCm38) T126N probably damaging Het
Phf1 C A 17: 26,935,317 (GRCm38) Y169* probably null Het
Pramel25 A T 4: 143,793,993 (GRCm38) D269V probably benign Het
Prl3a1 G A 13: 27,272,459 (GRCm38) E99K probably damaging Het
Prss57 G A 10: 79,787,379 (GRCm38) A78V probably damaging Het
Ptprb A T 10: 116,283,548 (GRCm38) T196S probably benign Het
Rgsl1 A T 1: 153,826,037 (GRCm38) C224S possibly damaging Het
Rtn4 T C 11: 29,693,274 (GRCm38) V29A unknown Het
Selplg G A 5: 113,819,420 (GRCm38) T275M probably damaging Het
Skint11 C T 4: 114,244,879 (GRCm38) T363I possibly damaging Het
Slc22a29 T A 19: 8,193,487 (GRCm38) I289F probably benign Het
Slc26a2 A G 18: 61,198,704 (GRCm38) S552P probably benign Het
Sptb T A 12: 76,608,526 (GRCm38) K1480* probably null Het
Sptbn1 C A 11: 30,142,153 (GRCm38) M537I probably damaging Het
Sqor A T 2: 122,785,088 (GRCm38) H43L probably benign Het
Srcin1 C A 11: 97,526,100 (GRCm38) E913* probably null Het
Srgap1 A G 10: 121,785,492 (GRCm38) L1032P probably damaging Het
Stc2 T C 11: 31,365,413 (GRCm38) K142R probably benign Het
Stox1 A C 10: 62,659,526 (GRCm38) N989K probably damaging Het
Tert T A 13: 73,628,195 (GRCm38) L355H probably damaging Het
Tfb2m A G 1: 179,531,361 (GRCm38) F319S probably damaging Het
Trps1 A G 15: 50,831,877 (GRCm38) F341L probably damaging Het
Ttk T C 9: 83,843,679 (GRCm38) V218A probably benign Het
Vmn1r159 A G 7: 22,843,271 (GRCm38) I112T probably benign Het
Vps8 C A 16: 21,532,320 (GRCm38) Q916K probably benign Het
Wdr12 A T 1: 60,082,066 (GRCm38) D364E probably damaging Het
Ylpm1 A G 12: 85,057,268 (GRCm38) E2019G probably damaging Het
Zfp267 C A 3: 36,165,589 (GRCm38) T587N probably benign Het
Zfp507 A G 7: 35,794,538 (GRCm38) L360P 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
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
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'- GGCTCTCAGGTGTCATTTACG -3'
(R):5'- TTCTGACACTGTTAGCAGCTCC -3'

Sequencing Primer
(F):5'- TGGGATTAAAGTTGCCCACC -3'
(R):5'- CTGCAGGCGGGCCATAG -3'
Posted On 2019-12-20