Incidental Mutation 'IGL01936:Kdm4b'
ID 180682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm4b
Ensembl Gene ENSMUSG00000024201
Gene Name lysine (K)-specific demethylase 4B
Synonyms Jmjd2b, 4732474L06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01936
Quality Score
Status
Chromosome 17
Chromosomal Location 56633062-56709870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56704355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 813 (V813E)
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: V820E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: V820E

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: V813E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: V813E

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: V277E
SMART Domains Protein: ENSMUSP00000116789
Gene: ENSMUSG00000024201
AA Change: V277E

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
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 90,009,282 (GRCm39) H127L probably benign Het
Adamtsl3 T C 7: 82,244,579 (GRCm39) V419A possibly damaging Het
Arhgap31 T A 16: 38,423,287 (GRCm39) L926F probably damaging Het
Asgr2 A T 11: 69,988,877 (GRCm39) probably null Het
C3ar1 T A 6: 122,828,194 (GRCm39) T8S probably benign Het
Caskin2 T C 11: 115,695,543 (GRCm39) I273V probably damaging Het
Ccnl2 T A 4: 155,904,856 (GRCm39) C242S probably damaging Het
Cdkn2a A T 4: 89,212,569 (GRCm39) probably null Het
Cfap45 T G 1: 172,361,616 (GRCm39) M231R probably damaging Het
Clcn7 A C 17: 25,374,350 (GRCm39) N464H probably benign Het
Col20a1 T A 2: 180,651,161 (GRCm39) probably benign Het
Col7a1 T A 9: 108,797,067 (GRCm39) probably benign Het
Cops7a T C 6: 124,939,379 (GRCm39) D90G probably benign Het
Ctcf T C 8: 106,396,864 (GRCm39) V363A probably benign Het
Cyp2j12 A G 4: 96,021,306 (GRCm39) V100A probably benign Het
Dcaf1 T A 9: 106,736,800 (GRCm39) F1085Y possibly damaging Het
Drc7 T A 8: 95,800,760 (GRCm39) F594Y possibly damaging Het
Ehbp1l1 C A 19: 5,768,277 (GRCm39) E1009* probably null Het
Epg5 C A 18: 78,028,316 (GRCm39) R1286S probably damaging Het
Etv1 T C 12: 38,885,060 (GRCm39) probably benign Het
Exosc7 T C 9: 122,964,956 (GRCm39) probably benign Het
Fam227a T C 15: 79,496,747 (GRCm39) D610G possibly damaging Het
Fat4 T A 3: 39,033,923 (GRCm39) M2525K probably benign Het
Gimap5 G T 6: 48,729,999 (GRCm39) A190S probably damaging Het
Glcci1 T A 6: 8,579,596 (GRCm39) S79T probably damaging Het
Gpnmb C T 6: 49,024,384 (GRCm39) T233I probably null Het
Hdac1-ps T C 17: 78,799,558 (GRCm39) V183A probably damaging Het
Hyls1 T C 9: 35,473,363 (GRCm39) I18V probably benign Het
Ighv1-63 C T 12: 115,459,274 (GRCm39) E108K probably damaging Het
Ighv5-12 C A 12: 113,665,927 (GRCm39) R57L probably damaging Het
Igkv5-37 T C 6: 69,940,323 (GRCm39) Y107C probably damaging Het
Il20ra T A 10: 19,631,591 (GRCm39) V264D probably damaging Het
Jph1 A T 1: 17,167,608 (GRCm39) V74E probably damaging Het
Kcnab1 C T 3: 65,265,695 (GRCm39) L280F probably damaging Het
Kcnk1 T C 8: 126,751,826 (GRCm39) F144S probably damaging Het
Kcnq1 G A 7: 142,738,241 (GRCm39) E294K possibly damaging Het
Kntc1 T A 5: 123,949,439 (GRCm39) F1937I probably damaging Het
Ldb2 G A 5: 44,637,586 (GRCm39) R241W probably damaging Het
Lgr5 T C 10: 115,288,319 (GRCm39) N703S probably damaging Het
Map4k1 A T 7: 28,688,032 (GRCm39) M227L possibly damaging Het
Mbnl1 T A 3: 60,520,940 (GRCm39) M268K possibly damaging Het
Mcm2 C A 6: 88,868,708 (GRCm39) G350C probably damaging Het
Myh2 A T 11: 67,082,599 (GRCm39) T1390S possibly damaging Het
Npat T A 9: 53,469,526 (GRCm39) probably benign Het
Nr2e1 T A 10: 42,443,969 (GRCm39) D251V possibly damaging Het
Or1x2 A G 11: 50,918,162 (GRCm39) N111S probably benign Het
Or4d10 C T 19: 12,051,421 (GRCm39) V192I probably benign Het
Or5b107 C A 19: 13,142,767 (GRCm39) P130T probably damaging Het
Plekha5 T A 6: 140,470,621 (GRCm39) H87Q probably damaging Het
Polr3a A G 14: 24,529,256 (GRCm39) V368A probably damaging Het
Psmb8 T A 17: 34,419,168 (GRCm39) L154Q probably damaging Het
Rab40c A C 17: 26,103,644 (GRCm39) C140G probably damaging Het
Ranbp17 G A 11: 33,437,689 (GRCm39) T183I probably benign Het
Ruvbl2 T C 7: 45,078,122 (GRCm39) E117G probably damaging Het
Serpinb3b T A 1: 107,082,368 (GRCm39) M299L probably benign Het
Smpdl3a A G 10: 57,678,530 (GRCm39) H111R probably damaging Het
Sspo C A 6: 48,452,821 (GRCm39) P2843H probably damaging Het
Stk39 T C 2: 68,144,908 (GRCm39) T389A probably benign Het
Synrg T A 11: 83,910,531 (GRCm39) F1000Y probably benign Het
Thbs2 C T 17: 14,908,076 (GRCm39) S229N probably benign Het
Thsd1 G A 8: 22,742,247 (GRCm39) C305Y probably damaging Het
Ticrr C A 7: 79,344,297 (GRCm39) D1387E probably benign Het
Tmem145 G T 7: 25,010,816 (GRCm39) A383S probably damaging Het
Tmprss4 A G 9: 45,090,718 (GRCm39) V187A probably damaging Het
Unc13c T A 9: 73,600,524 (GRCm39) M1407L probably benign Het
Vps39 C T 2: 120,153,609 (GRCm39) G655D probably benign Het
Wwtr1 T C 3: 57,482,241 (GRCm39) probably benign Het
Xrn1 T C 9: 95,930,397 (GRCm39) S1535P 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
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
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
Posted On 2014-05-07