Incidental Mutation 'R2185:Kdm4b'
ID 237847
Institutional Source Beutler Lab
Gene Symbol Kdm4b
Ensembl Gene ENSMUSG00000024201
Gene Name lysine (K)-specific demethylase 4B
Synonyms Jmjd2b, 4732474L06Rik
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2185 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56633062-56709870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 56700750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 474 (A474P)
Ref Sequence ENSEMBL: ENSMUSP00000084045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025036] [ENSMUST00000086835]
AlphaFold Q91VY5
Predicted Effect probably benign
Transcript: ENSMUST00000025036
AA Change: A474P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: A474P

DomainStartEndE-ValueType
JmjN 14 56 5.88e-17 SMART
low complexity region 61 68 N/A INTRINSIC
JmjC 143 309 1.19e-59 SMART
low complexity region 349 361 N/A INTRINSIC
low complexity region 380 399 N/A INTRINSIC
low complexity region 443 449 N/A INTRINSIC
low complexity region 481 495 N/A INTRINSIC
low complexity region 511 537 N/A INTRINSIC
PHD 719 777 2.5e-5 SMART
PHD 839 895 7.07e-5 SMART
TUDOR 905 962 1.68e-9 SMART
TUDOR 963 1019 7.94e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086835
AA Change: A474P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: A474P

DomainStartEndE-ValueType
JmjN 14 56 5.88e-17 SMART
low complexity region 61 68 N/A INTRINSIC
JmjC 143 309 1.19e-59 SMART
low complexity region 349 361 N/A INTRINSIC
low complexity region 380 399 N/A INTRINSIC
low complexity region 443 449 N/A INTRINSIC
low complexity region 481 495 N/A INTRINSIC
low complexity region 511 537 N/A INTRINSIC
PHD 712 770 2.5e-5 SMART
PHD 832 888 7.07e-5 SMART
TUDOR 898 954 2.31e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141507
SMART Domains Protein: ENSMUSP00000116789
Gene: ENSMUSG00000024201

DomainStartEndE-ValueType
PHD 177 235 2.5e-5 SMART
PHD 297 353 7.07e-5 SMART
TUDOR 363 420 1.68e-9 SMART
TUDOR 421 477 7.94e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147489
Meta Mutation Damage Score 0.0806 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly damaging Het
Other mutations in Kdm4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Kdm4b APN 17 56,660,019 (GRCm39) missense probably benign 0.28
IGL01408:Kdm4b APN 17 56,660,518 (GRCm39) splice site probably benign
IGL01610:Kdm4b APN 17 56,660,522 (GRCm39) splice site probably benign
IGL01936:Kdm4b APN 17 56,704,355 (GRCm39) missense probably damaging 1.00
IGL01964:Kdm4b APN 17 56,696,256 (GRCm39) splice site probably null
IGL02151:Kdm4b APN 17 56,703,234 (GRCm39) missense probably benign 0.05
IGL02596:Kdm4b APN 17 56,706,706 (GRCm39) missense probably benign 0.14
IGL02975:Kdm4b APN 17 56,682,996 (GRCm39) splice site probably null
IGL03172:Kdm4b APN 17 56,708,649 (GRCm39) missense probably damaging 0.98
Coelestinum UTSW 17 56,660,091 (GRCm39) missense probably benign 0.31
mistflower UTSW 17 56,696,564 (GRCm39) missense possibly damaging 0.65
R0193:Kdm4b UTSW 17 56,700,952 (GRCm39) missense probably benign 0.04
R0311:Kdm4b UTSW 17 56,693,200 (GRCm39) missense probably benign 0.42
R0331:Kdm4b UTSW 17 56,693,289 (GRCm39) splice site probably benign
R1109:Kdm4b UTSW 17 56,706,430 (GRCm39) missense probably damaging 0.99
R1499:Kdm4b UTSW 17 56,707,025 (GRCm39) missense probably damaging 1.00
R1895:Kdm4b UTSW 17 56,704,340 (GRCm39) missense probably damaging 1.00
R1985:Kdm4b UTSW 17 56,708,302 (GRCm39) missense probably damaging 1.00
R2087:Kdm4b UTSW 17 56,696,564 (GRCm39) missense possibly damaging 0.65
R2904:Kdm4b UTSW 17 56,662,884 (GRCm39) missense probably benign 0.03
R3792:Kdm4b UTSW 17 56,662,944 (GRCm39) missense probably damaging 1.00
R3897:Kdm4b UTSW 17 56,703,955 (GRCm39) missense probably damaging 1.00
R4661:Kdm4b UTSW 17 56,706,459 (GRCm39) missense probably damaging 1.00
R4685:Kdm4b UTSW 17 56,708,675 (GRCm39) missense probably benign 0.06
R4716:Kdm4b UTSW 17 56,693,178 (GRCm39) missense probably benign 0.10
R4790:Kdm4b UTSW 17 56,708,618 (GRCm39) missense probably damaging 0.97
R4864:Kdm4b UTSW 17 56,660,091 (GRCm39) missense probably benign 0.31
R5700:Kdm4b UTSW 17 56,658,700 (GRCm39) missense possibly damaging 0.93
R5963:Kdm4b UTSW 17 56,706,732 (GRCm39) missense probably damaging 1.00
R6003:Kdm4b UTSW 17 56,703,916 (GRCm39) missense probably damaging 1.00
R6029:Kdm4b UTSW 17 56,703,576 (GRCm39) missense probably damaging 0.98
R6769:Kdm4b UTSW 17 56,658,754 (GRCm39) missense possibly damaging 0.54
R6771:Kdm4b UTSW 17 56,658,754 (GRCm39) missense possibly damaging 0.54
R6927:Kdm4b UTSW 17 56,706,435 (GRCm39) missense probably damaging 1.00
R7041:Kdm4b UTSW 17 56,703,592 (GRCm39) missense probably damaging 0.96
R7230:Kdm4b UTSW 17 56,676,155 (GRCm39) missense probably damaging 1.00
R7275:Kdm4b UTSW 17 56,703,333 (GRCm39) missense probably damaging 0.99
R7454:Kdm4b UTSW 17 56,696,639 (GRCm39) missense probably benign 0.00
R7455:Kdm4b UTSW 17 56,703,657 (GRCm39) missense probably damaging 0.98
R7457:Kdm4b UTSW 17 56,703,319 (GRCm39) missense probably damaging 1.00
R8171:Kdm4b UTSW 17 56,696,534 (GRCm39) missense probably damaging 0.99
R8367:Kdm4b UTSW 17 56,662,875 (GRCm39) missense probably damaging 1.00
R8524:Kdm4b UTSW 17 56,706,384 (GRCm39) missense probably damaging 1.00
R8810:Kdm4b UTSW 17 56,706,771 (GRCm39) missense probably damaging 1.00
R9260:Kdm4b UTSW 17 56,701,775 (GRCm39) missense probably benign
R9459:Kdm4b UTSW 17 56,706,509 (GRCm39) missense probably benign 0.15
R9466:Kdm4b UTSW 17 56,696,548 (GRCm39) missense probably benign 0.04
R9559:Kdm4b UTSW 17 56,693,228 (GRCm39) missense probably damaging 1.00
X0024:Kdm4b UTSW 17 56,708,278 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAATCTCTCAGTCCAGCAG -3'
(R):5'- CATTGGGATAATGGGCCGTG -3'

Sequencing Primer
(F):5'- TCAGTCCAGCAGTCCAGTC -3'
(R):5'- CCAGGAGGCACGACATTG -3'
Posted On 2014-10-02