Incidental Mutation 'R6003:Kdm4b'
ID 478481
Institutional Source Beutler Lab
Gene Symbol Kdm4b
Ensembl Gene ENSMUSG00000024201
Gene Name lysine (K)-specific demethylase 4B
Synonyms Jmjd2b, 4732474L06Rik
MMRRC Submission 043252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 56633062-56709870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56703916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 756 (R756W)
Ref Sequence ENSEMBL: ENSMUSP00000084045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025036] [ENSMUST00000086835]
AlphaFold Q91VY5
Predicted Effect probably damaging
Transcript: ENSMUST00000025036
AA Change: R763W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: R763W

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 damaging
Transcript: ENSMUST00000086835
AA Change: R756W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: R756W

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 unknown
Transcript: ENSMUST00000141507
AA Change: R220W
SMART Domains Protein: ENSMUSP00000116789
Gene: ENSMUSG00000024201
AA Change: R220W

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,312 (GRCm39) E157G probably benign Het
Abcb11 T C 2: 69,073,811 (GRCm39) K1238R probably benign Het
Ankar T A 1: 72,738,046 (GRCm39) E45D probably damaging Het
Antxrl G T 14: 33,797,592 (GRCm39) K522N possibly damaging Het
Ap1m1 A G 8: 73,003,011 (GRCm39) Y93C probably damaging Het
As3mt C T 19: 46,696,567 (GRCm39) T35M possibly damaging Het
Aspg T C 12: 112,079,476 (GRCm39) S85P probably damaging Het
Cachd1 T C 4: 100,809,216 (GRCm39) S234P possibly damaging Het
Ccdc3 T C 2: 5,146,218 (GRCm39) probably null Het
Cnpy1 T C 5: 28,450,759 (GRCm39) T16A probably benign Het
Cope T C 8: 70,757,285 (GRCm39) L43P probably benign Het
E2f8 T C 7: 48,520,525 (GRCm39) M599V probably benign Het
Eif3a A T 19: 60,755,319 (GRCm39) D954E unknown Het
Gfpt1 T A 6: 87,065,230 (GRCm39) probably null Het
Ggps1 T G 13: 14,228,587 (GRCm39) S145R probably benign Het
Gon4l A G 3: 88,803,400 (GRCm39) D1337G probably damaging Het
Gtf2a1l G T 17: 89,001,531 (GRCm39) G82V probably damaging Het
Gucy1b1 C A 3: 81,965,584 (GRCm39) L87F probably damaging Het
Hoxc9 T C 15: 102,890,311 (GRCm39) V76A probably benign Het
Ints2 T C 11: 86,129,294 (GRCm39) E460G probably damaging Het
Lax1 T A 1: 133,611,834 (GRCm39) I34F probably benign Het
Marveld3 A T 8: 110,680,960 (GRCm39) C312S probably damaging Het
Ncoa2 T C 1: 13,237,254 (GRCm39) D824G possibly damaging Het
Nrxn2 C A 19: 6,548,358 (GRCm39) A17D possibly damaging Het
Nup133 A T 8: 124,665,031 (GRCm39) I220N probably damaging Het
Nup205 T C 6: 35,189,751 (GRCm39) V984A probably benign Het
Nup54 A T 5: 92,570,853 (GRCm39) D318E probably damaging Het
Obp2a A T 2: 25,591,151 (GRCm39) K94N probably damaging Het
Or2ak5 A T 11: 58,611,196 (GRCm39) I226N probably benign Het
Or5b3 T C 19: 13,388,403 (GRCm39) S157P probably benign Het
Pappa2 T C 1: 158,763,820 (GRCm39) I564V probably benign Het
Parpbp A G 10: 87,969,020 (GRCm39) V142A possibly damaging Het
Rdh16f2 A T 10: 127,712,201 (GRCm39) R219S probably benign Het
Rfx6 C T 10: 51,584,683 (GRCm39) R228C probably damaging Het
Rpap2 A G 5: 107,749,767 (GRCm39) probably null Het
Rskr T G 11: 78,183,846 (GRCm39) probably null Het
Slc15a2 T C 16: 36,574,910 (GRCm39) I531V probably benign Het
Srebf1 T C 11: 60,097,930 (GRCm39) E58G possibly damaging Het
Tmem214 C A 5: 31,028,068 (GRCm39) T96K possibly damaging Het
Usp19 T C 9: 108,373,579 (GRCm39) Y691H probably damaging Het
Vmn1r86 C T 7: 12,836,125 (GRCm39) W200* probably null Het
Vmn2r8 A T 5: 108,945,248 (GRCm39) S786R probably damaging Het
Vps52 T A 17: 34,175,068 (GRCm39) M1K probably null Het
Zzef1 T A 11: 72,714,891 (GRCm39) probably null 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
R2185:Kdm4b UTSW 17 56,700,750 (GRCm39) missense probably benign 0.00
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
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'- TCAGTGTGAAGGGCTCTAGG -3'
(R):5'- TGCACAAACAGCATTCCTGAGG -3'

Sequencing Primer
(F):5'- CTCTAGGGAGAGGGAGAACC -3'
(R):5'- CAGCATTCCTGAGGGACAG -3'
Posted On 2017-06-26