Incidental Mutation 'R7452:Kdm5b'
ID 577772
Institutional Source Beutler Lab
Gene Symbol Kdm5b
Ensembl Gene ENSMUSG00000042207
Gene Name lysine demethylase 5B
Synonyms 2010009J12Rik, PLU-1, Rb-Bp2, Jarid1b, D1Ertd202e, Plu1, 2210016I17Rik
MMRRC Submission 045526-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R7452 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 134487916-134560621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134552686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 1221 (C1221R)
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: C1221R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038138
Gene: ENSMUSG00000042207
AA Change: C1221R

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: C1221R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107817
Gene: ENSMUSG00000042207
AA Change: C1221R

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
Meta Mutation Damage Score 0.9720 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,618,291 (GRCm39) Q195K probably damaging Het
Abcg4 C T 9: 44,190,897 (GRCm39) G249R probably damaging Het
Actn1 T C 12: 80,230,376 (GRCm39) T293A probably benign Het
Adamts5 T A 16: 85,674,869 (GRCm39) T432S probably benign Het
Adh5 A G 3: 138,160,506 (GRCm39) T347A probably benign Het
Agbl5 A G 5: 31,050,735 (GRCm39) D432G probably damaging Het
Ank3 A G 10: 69,734,881 (GRCm39) T797A possibly damaging Het
Aoc1 T G 6: 48,885,724 (GRCm39) V743G probably benign Het
Arap2 A T 5: 62,833,892 (GRCm39) S858R probably benign Het
Arid1a A C 4: 133,480,438 (GRCm39) V162G possibly damaging Het
Armc9 A G 1: 86,140,814 (GRCm39) D588G possibly damaging Het
Art3 A G 5: 92,540,539 (GRCm39) Y94C probably damaging Het
Btaf1 T A 19: 36,946,527 (GRCm39) D444E probably damaging Het
Cav2 A G 6: 17,282,075 (GRCm39) H111R probably damaging Het
Ccdc148 A G 2: 58,717,596 (GRCm39) L469P probably damaging Het
Celsr2 T A 3: 108,320,406 (GRCm39) E802V possibly damaging Het
Cfap57 T C 4: 118,452,981 (GRCm39) D574G probably damaging Het
Chd7 A C 4: 8,854,731 (GRCm39) D2024A probably benign Het
Corin T A 5: 72,592,590 (GRCm39) D269V possibly damaging Het
Cyp4a12a A T 4: 115,184,795 (GRCm39) I359F probably damaging Het
Defb6 T C 8: 19,275,540 (GRCm39) L7P probably damaging Het
Dnah7c A T 1: 46,686,196 (GRCm39) M1817L possibly damaging Het
Dock3 A G 9: 106,866,664 (GRCm39) F682S probably damaging Het
Enpep T A 3: 129,065,052 (GRCm39) Y879F possibly damaging Het
Enpp2 T C 15: 54,730,132 (GRCm39) N462S probably damaging Het
Ephb3 T C 16: 21,036,107 (GRCm39) probably null Het
F7 C T 8: 13,085,215 (GRCm39) H414Y probably benign Het
Fbn1 T C 2: 125,347,375 (GRCm39) H50R possibly damaging Het
Fig4 T C 10: 41,116,633 (GRCm39) D586G possibly damaging Het
Fryl A G 5: 73,181,331 (GRCm39) L2825P probably damaging Het
Gal3st2 T A 1: 93,800,240 (GRCm39) H30Q possibly damaging Het
Garre1 A G 7: 33,945,096 (GRCm39) S595P probably benign Het
Gm12886 G A 4: 121,274,671 (GRCm39) Q70* probably null Het
Gm8104 A C 14: 42,967,501 (GRCm39) T190P probably benign Het
Hps3 A T 3: 20,065,592 (GRCm39) N749K probably damaging Het
Hr A G 14: 70,808,926 (GRCm39) T1101A probably damaging Het
Htatip2 T A 7: 49,423,074 (GRCm39) S210T probably benign Het
Ift80 T C 3: 68,901,615 (GRCm39) probably null Het
Iqgap1 A G 7: 80,410,577 (GRCm39) V212A possibly damaging Het
Itih5 A G 2: 10,243,607 (GRCm39) E448G probably damaging Het
Lrrc72 T C 12: 36,262,692 (GRCm39) Y52C probably benign Het
Map1b C T 13: 99,644,648 (GRCm39) R85Q probably damaging Het
Mdn1 T C 4: 32,739,030 (GRCm39) I3617T possibly damaging Het
Mtpap T A 18: 4,379,705 (GRCm39) H98Q possibly damaging Het
Nemf A T 12: 69,384,733 (GRCm39) probably null Het
Neto1 A T 18: 86,517,056 (GRCm39) I458L probably benign Het
Nfam1 T A 15: 82,899,163 (GRCm39) M128L probably benign Het
Or2y13 C A 11: 49,415,208 (GRCm39) H219Q probably benign Het
Or4g16 A G 2: 111,137,266 (GRCm39) T239A probably damaging Het
Or5p75-ps1 C T 7: 108,107,800 (GRCm39) T179I unknown Het
Or8b50 A T 9: 38,518,384 (GRCm39) I208F probably benign Het
P2ry14 C T 3: 59,023,466 (GRCm39) G7D probably benign Het
Pde11a A G 2: 75,966,758 (GRCm39) Y564H probably damaging Het
Pex5l C T 3: 33,058,467 (GRCm39) V262I probably benign Het
Poli A G 18: 70,642,049 (GRCm39) V717A possibly damaging Het
Prdm14 A T 1: 13,195,783 (GRCm39) W93R probably damaging Het
Rbm46 T C 3: 82,771,428 (GRCm39) M396V probably benign Het
Rcor2 T C 19: 7,248,587 (GRCm39) V212A probably benign Het
Rcor3 C A 1: 191,822,173 (GRCm39) G8V probably damaging Het
Rhox4d G A X: 36,700,645 (GRCm39) G191E unknown Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Skp2 T A 15: 9,113,920 (GRCm39) Q366L probably damaging Het
Slc13a3 A T 2: 165,269,034 (GRCm39) S312T probably benign Het
Sstr1 T C 12: 58,260,142 (GRCm39) L255P probably damaging Het
Steap3 T C 1: 120,155,585 (GRCm39) E458G possibly damaging Het
Sv2b T A 7: 74,797,461 (GRCm39) D311V probably damaging Het
Tmem132b A G 5: 125,715,332 (GRCm39) D347G probably benign Het
Tmem161a A G 8: 70,630,138 (GRCm39) D108G probably damaging Het
Traf5 T A 1: 191,731,792 (GRCm39) I47F Het
Trp53bp2 C T 1: 182,274,133 (GRCm39) Q95* probably null Het
Ttn G T 2: 76,707,487 (GRCm39) probably null Het
Usf3 T C 16: 44,040,397 (GRCm39) S1626P probably benign Het
Usp3 T C 9: 66,474,180 (GRCm39) R33G probably benign Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably damaging Het
Other mutations in Kdm5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Kdm5b APN 1 134,548,693 (GRCm39) missense probably damaging 1.00
IGL01458:Kdm5b APN 1 134,549,724 (GRCm39) missense possibly damaging 0.53
IGL01567:Kdm5b APN 1 134,530,278 (GRCm39) missense probably damaging 1.00
IGL01625:Kdm5b APN 1 134,545,706 (GRCm39) missense possibly damaging 0.74
IGL01970:Kdm5b APN 1 134,528,465 (GRCm39) missense probably damaging 1.00
IGL02183:Kdm5b APN 1 134,552,669 (GRCm39) missense probably benign 0.09
IGL02592:Kdm5b APN 1 134,552,591 (GRCm39) missense probably damaging 0.99
IGL02695:Kdm5b APN 1 134,532,223 (GRCm39) missense possibly damaging 0.94
IGL02697:Kdm5b APN 1 134,516,511 (GRCm39) splice site probably benign
IGL03036:Kdm5b APN 1 134,536,675 (GRCm39) missense probably damaging 1.00
IGL03056:Kdm5b APN 1 134,515,717 (GRCm39) missense probably damaging 0.99
IGL03206:Kdm5b APN 1 134,555,055 (GRCm39) missense probably benign
IGL03342:Kdm5b APN 1 134,530,314 (GRCm39) missense probably benign 0.00
IGL03388:Kdm5b APN 1 134,555,060 (GRCm39) missense probably benign
amaryllis UTSW 1 134,536,799 (GRCm39) critical splice donor site probably null
PIT4486001:Kdm5b UTSW 1 134,556,423 (GRCm39) missense probably damaging 1.00
R0233:Kdm5b UTSW 1 134,532,372 (GRCm39) splice site probably benign
R0334:Kdm5b UTSW 1 134,532,260 (GRCm39) missense probably damaging 0.99
R0504:Kdm5b UTSW 1 134,548,761 (GRCm39) critical splice donor site probably null
R0505:Kdm5b UTSW 1 134,530,309 (GRCm39) missense probably damaging 0.96
R0521:Kdm5b UTSW 1 134,545,771 (GRCm39) missense possibly damaging 0.65
R1004:Kdm5b UTSW 1 134,516,642 (GRCm39) missense possibly damaging 0.71
R1087:Kdm5b UTSW 1 134,528,375 (GRCm39) missense probably damaging 1.00
R1126:Kdm5b UTSW 1 134,541,729 (GRCm39) missense possibly damaging 0.90
R1221:Kdm5b UTSW 1 134,526,829 (GRCm39) missense probably damaging 0.98
R1230:Kdm5b UTSW 1 134,540,992 (GRCm39) missense probably damaging 1.00
R1345:Kdm5b UTSW 1 134,558,288 (GRCm39) missense possibly damaging 0.94
R1482:Kdm5b UTSW 1 134,552,635 (GRCm39) missense probably damaging 1.00
R1582:Kdm5b UTSW 1 134,552,591 (GRCm39) missense probably damaging 0.99
R1653:Kdm5b UTSW 1 134,530,219 (GRCm39) missense probably damaging 1.00
R1693:Kdm5b UTSW 1 134,525,314 (GRCm39) splice site probably benign
R1721:Kdm5b UTSW 1 134,540,919 (GRCm39) splice site probably benign
R1741:Kdm5b UTSW 1 134,545,755 (GRCm39) missense possibly damaging 0.82
R1762:Kdm5b UTSW 1 134,532,205 (GRCm39) nonsense probably null
R1820:Kdm5b UTSW 1 134,525,408 (GRCm39) missense possibly damaging 0.87
R1872:Kdm5b UTSW 1 134,552,732 (GRCm39) missense probably damaging 1.00
R1966:Kdm5b UTSW 1 134,541,611 (GRCm39) splice site probably null
R2056:Kdm5b UTSW 1 134,540,952 (GRCm39) missense probably benign 0.05
R2059:Kdm5b UTSW 1 134,540,952 (GRCm39) missense probably benign 0.05
R2405:Kdm5b UTSW 1 134,536,754 (GRCm39) missense probably damaging 0.97
R3417:Kdm5b UTSW 1 134,515,715 (GRCm39) missense probably damaging 1.00
R3771:Kdm5b UTSW 1 134,541,083 (GRCm39) missense probably damaging 1.00
R3783:Kdm5b UTSW 1 134,558,280 (GRCm39) missense probably benign
R3803:Kdm5b UTSW 1 134,543,679 (GRCm39) missense probably benign 0.07
R3980:Kdm5b UTSW 1 134,547,408 (GRCm39) missense probably benign 0.11
R3983:Kdm5b UTSW 1 134,559,042 (GRCm39) missense possibly damaging 0.91
R4013:Kdm5b UTSW 1 134,555,067 (GRCm39) missense possibly damaging 0.86
R4162:Kdm5b UTSW 1 134,552,899 (GRCm39) missense probably benign 0.01
R4701:Kdm5b UTSW 1 134,533,750 (GRCm39) intron probably benign
R4791:Kdm5b UTSW 1 134,558,538 (GRCm39) missense possibly damaging 0.82
R4836:Kdm5b UTSW 1 134,521,053 (GRCm39) splice site probably null
R4924:Kdm5b UTSW 1 134,559,089 (GRCm39) missense probably benign 0.00
R5135:Kdm5b UTSW 1 134,516,484 (GRCm39) intron probably benign
R5248:Kdm5b UTSW 1 134,548,735 (GRCm39) missense probably benign 0.11
R5290:Kdm5b UTSW 1 134,549,837 (GRCm39) splice site probably null
R5358:Kdm5b UTSW 1 134,535,432 (GRCm39) nonsense probably null
R5388:Kdm5b UTSW 1 134,536,635 (GRCm39) nonsense probably null
R5396:Kdm5b UTSW 1 134,549,836 (GRCm39) splice site probably null
R5397:Kdm5b UTSW 1 134,549,836 (GRCm39) splice site probably null
R5398:Kdm5b UTSW 1 134,549,836 (GRCm39) splice site probably null
R5399:Kdm5b UTSW 1 134,549,836 (GRCm39) splice site probably null
R5529:Kdm5b UTSW 1 134,515,741 (GRCm39) missense probably damaging 1.00
R5540:Kdm5b UTSW 1 134,558,979 (GRCm39) missense probably damaging 0.98
R5661:Kdm5b UTSW 1 134,526,811 (GRCm39) missense probably benign 0.01
R5663:Kdm5b UTSW 1 134,558,373 (GRCm39) missense probably benign
R5822:Kdm5b UTSW 1 134,516,511 (GRCm39) splice site probably benign
R6226:Kdm5b UTSW 1 134,536,616 (GRCm39) missense probably damaging 0.99
R6368:Kdm5b UTSW 1 134,526,945 (GRCm39) missense probably damaging 1.00
R6681:Kdm5b UTSW 1 134,541,007 (GRCm39) missense possibly damaging 0.90
R6715:Kdm5b UTSW 1 134,536,799 (GRCm39) critical splice donor site probably null
R7132:Kdm5b UTSW 1 134,526,844 (GRCm39) missense probably damaging 1.00
R7202:Kdm5b UTSW 1 134,552,497 (GRCm39) missense probably benign
R7258:Kdm5b UTSW 1 134,548,759 (GRCm39) missense probably damaging 1.00
R7335:Kdm5b UTSW 1 134,488,177 (GRCm39) missense probably damaging 1.00
R7420:Kdm5b UTSW 1 134,532,235 (GRCm39) missense probably benign 0.14
R7426:Kdm5b UTSW 1 134,523,571 (GRCm39) missense probably benign 0.02
R7595:Kdm5b UTSW 1 134,536,704 (GRCm39) missense probably benign 0.00
R7612:Kdm5b UTSW 1 134,552,656 (GRCm39) nonsense probably null
R7704:Kdm5b UTSW 1 134,515,669 (GRCm39) missense probably damaging 1.00
R7846:Kdm5b UTSW 1 134,545,578 (GRCm39) missense probably damaging 1.00
R8115:Kdm5b UTSW 1 134,547,411 (GRCm39) missense possibly damaging 0.83
R8146:Kdm5b UTSW 1 134,552,864 (GRCm39) missense probably benign 0.05
R8160:Kdm5b UTSW 1 134,541,657 (GRCm39) missense probably damaging 1.00
R8527:Kdm5b UTSW 1 134,533,512 (GRCm39) missense possibly damaging 0.78
R8542:Kdm5b UTSW 1 134,533,512 (GRCm39) missense possibly damaging 0.78
R8930:Kdm5b UTSW 1 134,544,010 (GRCm39) missense probably damaging 1.00
R8932:Kdm5b UTSW 1 134,544,010 (GRCm39) missense probably damaging 1.00
R8950:Kdm5b UTSW 1 134,541,664 (GRCm39) missense possibly damaging 0.84
R9089:Kdm5b UTSW 1 134,535,506 (GRCm39) missense probably damaging 0.98
R9109:Kdm5b UTSW 1 134,528,493 (GRCm39) critical splice donor site probably null
R9133:Kdm5b UTSW 1 134,530,323 (GRCm39) missense probably benign
R9298:Kdm5b UTSW 1 134,528,493 (GRCm39) critical splice donor site probably null
R9423:Kdm5b UTSW 1 134,515,705 (GRCm39) missense possibly damaging 0.85
R9630:Kdm5b UTSW 1 134,512,971 (GRCm39) critical splice donor site probably null
R9670:Kdm5b UTSW 1 134,558,240 (GRCm39) nonsense probably null
X0063:Kdm5b UTSW 1 134,516,614 (GRCm39) missense probably benign 0.07
Z1176:Kdm5b UTSW 1 134,552,773 (GRCm39) missense probably damaging 1.00
Z1177:Kdm5b UTSW 1 134,523,536 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TACGAGAGATGGAAGCTTTGC -3'
(R):5'- CCCACTTGGTCTTGCACAAG -3'

Sequencing Primer
(F):5'- GCAGTCTCTCAGATTTGCCAATGAAG -3'
(R):5'- GTTTTAGATTCCCTGAAGAAAGCAGC -3'
Posted On 2019-10-07