Incidental Mutation 'IGL02346:Kdm3b'
ID289288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kdm3b
Ensembl Gene ENSMUSG00000038773
Gene NameKDM3B lysine (K)-specific demethylase 3B
SynonymsJHDM2B, Jmjd1b, 5830462I21Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.668) question?
Stock #IGL02346
Quality Score
Status
Chromosome18
Chromosomal Location34777047-34838660 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 34834238 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 1699 (I1699L)
Ref Sequence ENSEMBL: ENSMUSP00000037628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043775] [ENSMUST00000225195]
Predicted Effect probably damaging
Transcript: ENSMUST00000043775
AA Change: I1699L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: I1699L

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
Blast:JmjC 149 944 N/A BLAST
Blast:JmjC 946 1064 5e-40 BLAST
Blast:JmjC 1069 1471 N/A BLAST
JmjC 1499 1722 2.43e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223567
Predicted Effect probably benign
Transcript: ENSMUST00000225195
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,238,699 I1948F probably damaging Het
Adgre1 T C 17: 57,443,919 V531A probably benign Het
Ano3 A T 2: 110,770,926 probably benign Het
Api5 A T 2: 94,427,530 F125I possibly damaging Het
Arhgap21 A G 2: 20,879,951 probably benign Het
Atp13a5 T A 16: 29,327,736 K247* probably null Het
Ccdc58 T C 16: 36,091,835 V87A probably damaging Het
Col9a1 C T 1: 24,223,609 A585V probably damaging Het
Eef1akmt3 A G 10: 127,032,936 V223A probably benign Het
Eml1 T C 12: 108,537,441 S766P possibly damaging Het
Fam13b G T 18: 34,462,105 A402E probably benign Het
Gad2 A G 2: 22,629,939 probably benign Het
Gbf1 A G 19: 46,285,930 E1859G probably damaging Het
Gli3 T G 13: 15,723,693 V786G probably damaging Het
Gm5592 A G 7: 41,289,465 S724G probably damaging Het
Hgs A G 11: 120,482,551 Y634C probably damaging Het
Hoxa3 T A 6: 52,170,599 probably benign Het
Id4 C A 13: 48,261,713 Y72* probably null Het
Il5ra T A 6: 106,742,658 E71D probably benign Het
Kcnh4 G A 11: 100,756,942 T168M possibly damaging Het
Madd A G 2: 91,162,491 Y1048H probably damaging Het
Nr2f1 C A 13: 78,195,408 V246L probably damaging Het
Oas2 A T 5: 120,736,088 I560N probably benign Het
Olfr24 T C 9: 18,754,769 I289V probably damaging Het
Olfr27 T C 9: 39,144,643 L181P probably damaging Het
Olfr346 A T 2: 36,688,004 M1L probably benign Het
Pclo A G 5: 14,677,538 probably benign Het
Pdss2 T C 10: 43,345,643 F184L possibly damaging Het
Prpf39 C T 12: 65,057,736 T525I probably benign Het
Ralgps1 A T 2: 33,157,770 probably null Het
Rasal3 A G 17: 32,399,349 W161R probably damaging Het
Sema5b T A 16: 35,649,755 V329D probably damaging Het
Serpinb9g A T 13: 33,486,531 M1L probably benign Het
Sptb C T 12: 76,621,014 D770N probably damaging Het
Tdp2 T C 13: 24,841,352 V368A possibly damaging Het
Uggt1 A G 1: 36,179,670 S59P probably benign Het
Vmn2r9 T A 5: 108,842,984 N837I probably benign Het
Vmn2r-ps130 T C 17: 23,061,527 V54A possibly damaging Het
Wdr7 A T 18: 63,865,336 E1118V probably benign Het
Wwox A G 8: 114,712,118 H308R probably benign Het
Zbtb41 C A 1: 139,447,100 P766Q probably damaging Het
Other mutations in Kdm3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Kdm3b APN 18 34809409 missense probably benign 0.03
IGL01357:Kdm3b APN 18 34793014 missense probably damaging 1.00
IGL01615:Kdm3b APN 18 34829231 missense probably damaging 1.00
IGL01980:Kdm3b APN 18 34834236 missense probably damaging 1.00
IGL02277:Kdm3b APN 18 34823664 missense probably damaging 1.00
IGL02417:Kdm3b APN 18 34808577 missense probably benign 0.03
IGL02531:Kdm3b APN 18 34795729 missense probably benign
IGL02589:Kdm3b APN 18 34812418 missense possibly damaging 0.89
IGL02793:Kdm3b APN 18 34829019 missense probably damaging 0.99
IGL03121:Kdm3b APN 18 34795709 missense probably damaging 0.98
IGL03123:Kdm3b APN 18 34809491 critical splice donor site probably null
IGL03128:Kdm3b APN 18 34827427 missense probably damaging 1.00
PIT4382001:Kdm3b UTSW 18 34809087 missense probably damaging 1.00
PIT4445001:Kdm3b UTSW 18 34793115 nonsense probably null
R0068:Kdm3b UTSW 18 34824774 missense probably benign 0.18
R0068:Kdm3b UTSW 18 34824774 missense probably benign 0.18
R0233:Kdm3b UTSW 18 34809420 missense probably damaging 0.97
R0265:Kdm3b UTSW 18 34795663 splice site probably benign
R0306:Kdm3b UTSW 18 34804017 missense probably benign 0.35
R0941:Kdm3b UTSW 18 34803552 missense probably damaging 0.99
R0970:Kdm3b UTSW 18 34809039 missense probably damaging 1.00
R1061:Kdm3b UTSW 18 34796862 missense probably damaging 1.00
R1104:Kdm3b UTSW 18 34819811 missense probably damaging 1.00
R1221:Kdm3b UTSW 18 34808245 missense possibly damaging 0.57
R1486:Kdm3b UTSW 18 34834304 missense probably damaging 1.00
R1523:Kdm3b UTSW 18 34793173 critical splice donor site probably null
R1558:Kdm3b UTSW 18 34809096 missense probably damaging 1.00
R1585:Kdm3b UTSW 18 34809292 missense probably damaging 1.00
R1601:Kdm3b UTSW 18 34808731 missense probably damaging 1.00
R1650:Kdm3b UTSW 18 34809115 missense possibly damaging 0.93
R1772:Kdm3b UTSW 18 34803504 missense probably benign 0.01
R1853:Kdm3b UTSW 18 34833393 missense probably damaging 1.00
R1934:Kdm3b UTSW 18 34813544 missense probably benign 0.04
R1959:Kdm3b UTSW 18 34812395 missense possibly damaging 0.55
R2079:Kdm3b UTSW 18 34803517 missense probably damaging 1.00
R2102:Kdm3b UTSW 18 34830147 missense probably damaging 1.00
R2121:Kdm3b UTSW 18 34796780 splice site probably benign
R2281:Kdm3b UTSW 18 34808419 missense probably damaging 1.00
R3719:Kdm3b UTSW 18 34808671 missense probably damaging 1.00
R3755:Kdm3b UTSW 18 34808296 missense probably benign
R3857:Kdm3b UTSW 18 34833387 missense probably benign
R4165:Kdm3b UTSW 18 34795744 missense probably benign 0.01
R4166:Kdm3b UTSW 18 34795744 missense probably benign 0.01
R4372:Kdm3b UTSW 18 34827444 missense probably benign 0.00
R4672:Kdm3b UTSW 18 34808577 missense probably benign
R4933:Kdm3b UTSW 18 34810393 missense probably damaging 1.00
R4969:Kdm3b UTSW 18 34822375 missense probably damaging 1.00
R5009:Kdm3b UTSW 18 34824710 missense probably benign 0.42
R5059:Kdm3b UTSW 18 34777197 missense possibly damaging 0.83
R5092:Kdm3b UTSW 18 34813462 missense probably benign 0.16
R5270:Kdm3b UTSW 18 34827414 missense probably damaging 1.00
R5816:Kdm3b UTSW 18 34828469 missense probably damaging 0.99
R5970:Kdm3b UTSW 18 34829289 missense probably damaging 1.00
R6244:Kdm3b UTSW 18 34793005 missense probably damaging 1.00
R6705:Kdm3b UTSW 18 34819873 missense probably damaging 1.00
R6723:Kdm3b UTSW 18 34793005 missense probably damaging 0.99
R6909:Kdm3b UTSW 18 34827328 splice site probably null
R6958:Kdm3b UTSW 18 34808283 missense probably benign 0.00
R7026:Kdm3b UTSW 18 34822464 missense possibly damaging 0.90
R7289:Kdm3b UTSW 18 34794504 missense probably benign 0.00
X0028:Kdm3b UTSW 18 34799266 intron probably null
X0067:Kdm3b UTSW 18 34823517 missense probably benign 0.00
Posted On2015-04-16