Incidental Mutation 'R6769:Kdm4b'
ID 532104
Institutional Source Beutler Lab
Gene Symbol Kdm4b
Ensembl Gene ENSMUSG00000024201
Gene Name lysine (K)-specific demethylase 4B
Synonyms Jmjd2b, 4732474L06Rik
MMRRC Submission 044885-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6769 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56633062-56709870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56658754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 33 (A33V)
Ref Sequence ENSEMBL: ENSMUSP00000025036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025036] [ENSMUST00000086835] [ENSMUST00000139679]
AlphaFold Q91VY5
Predicted Effect possibly damaging
Transcript: ENSMUST00000025036
AA Change: A33V

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: A33V

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: A33V

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: A33V

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: ENSMUST00000139679
AA Change: A33V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000118089
Gene: ENSMUSG00000024201
AA Change: A33V

DomainStartEndE-ValueType
JmjN 14 56 5.88e-17 SMART
low complexity region 61 68 N/A INTRINSIC
Pfam:JmjC 176 208 5.8e-13 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 98% (39/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 G T 8: 71,914,105 (GRCm39) H174Q probably damaging Het
Alox5 C A 6: 116,392,145 (GRCm39) probably null Het
Amer3 C A 1: 34,627,330 (GRCm39) A523D possibly damaging Het
Apoa4 G A 9: 46,154,465 (GRCm39) M355I probably benign Het
Atp10b T C 11: 43,094,079 (GRCm39) probably null Het
Atp9a A T 2: 168,516,820 (GRCm39) Y340N probably damaging Het
C1rb T G 6: 124,554,364 (GRCm39) S382A probably benign Het
Csmd1 A G 8: 16,121,408 (GRCm39) V1763A possibly damaging Het
Ctnnd1 C A 2: 84,450,269 (GRCm39) R317L probably damaging Het
Ctnnd1 A T 2: 84,450,454 (GRCm39) D255E probably damaging Het
Dipk1b A G 2: 26,524,875 (GRCm39) R92G probably benign Het
Dmxl2 A T 9: 54,323,808 (GRCm39) I1192N probably damaging Het
Efcab5 A G 11: 76,996,258 (GRCm39) V1101A probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Flg T C 3: 93,195,630 (GRCm39) probably benign Het
Fras1 A G 5: 96,746,800 (GRCm39) I623M possibly damaging Het
Gm7361 T A 5: 26,462,767 (GRCm39) L3* probably null Het
Gpr35 T A 1: 92,910,426 (GRCm39) M46K probably damaging Het
Ighv2-9 A T 12: 113,842,930 (GRCm39) F46I possibly damaging Het
Klhl5 T A 5: 65,321,995 (GRCm39) Y534N probably damaging Het
Mccc1 C T 3: 36,043,992 (GRCm39) probably null Het
Memo1 A T 17: 74,508,273 (GRCm39) F270L probably damaging Het
Mnat1 A G 12: 73,319,196 (GRCm39) N273S probably benign Het
Niban2 C T 2: 32,785,666 (GRCm39) Het
Nxpe3 C A 16: 55,686,471 (GRCm39) G179V probably damaging Het
Or5b120 T A 19: 13,480,318 (GRCm39) F204I possibly damaging Het
Otp A G 13: 95,012,294 (GRCm39) D6G probably damaging Het
Prdm5 T A 6: 65,839,920 (GRCm39) I265K probably damaging Het
Ptpn4 T A 1: 119,643,698 (GRCm39) N350I probably benign Het
Rassf10 A G 7: 112,553,635 (GRCm39) M79V probably benign Het
Rassf4 T A 6: 116,618,433 (GRCm39) D215V possibly damaging Het
Rbm12 A T 2: 155,939,375 (GRCm39) I299N possibly damaging Het
Scfd2 T C 5: 74,692,117 (GRCm39) H55R probably benign Het
Scn8a A G 15: 100,933,445 (GRCm39) N1550D probably benign Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc30a5 A C 13: 100,950,368 (GRCm39) S240A probably benign Het
Slc7a4 A G 16: 17,393,184 (GRCm39) V205A possibly damaging Het
Syde2 G A 3: 145,704,803 (GRCm39) G318E probably damaging Het
Ttn T A 2: 76,538,883 (GRCm39) D34649V possibly damaging Het
Vmn2r83 T A 10: 79,313,856 (GRCm39) S155T probably 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
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
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
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'- GGTATTTCGTTGCCTCCAAGG -3'
(R):5'- ACCTGGACTCCATCAGCTATTC -3'

Sequencing Primer
(F):5'- CAAGGGAGGCTTGGAGGTG -3'
(R):5'- AGCTATTCTTAGAGCCCTGGATCAG -3'
Posted On 2018-08-29