Incidental Mutation 'R0426:Kdm1b'
ID 38676
Institutional Source Beutler Lab
Gene Symbol Kdm1b
Ensembl Gene ENSMUSG00000038080
Gene Name lysine (K)-specific demethylase 1B
Synonyms Aof1, 4632428N09Rik
MMRRC Submission 038628-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.504) question?
Stock # R0426 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 47196849-47238085 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 47217720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000037025]
AlphaFold Q8CIG3
Predicted Effect probably benign
Transcript: ENSMUST00000037025
SMART Domains Protein: ENSMUSP00000038373
Gene: ENSMUSG00000038080

DomainStartEndE-ValueType
Pfam:zf-CW 138 191 2.6e-13 PFAM
low complexity region 235 253 N/A INTRINSIC
Pfam:SWIRM 286 369 6e-12 PFAM
Pfam:Pyr_redox_2 368 490 3.1e-8 PFAM
Pfam:Thi4 375 446 2.2e-10 PFAM
Pfam:FAD_binding_3 388 423 4.1e-7 PFAM
Pfam:HI0933_like 389 428 1.6e-7 PFAM
Pfam:FAD_binding_2 390 428 1.6e-6 PFAM
Pfam:Pyr_redox 390 438 8e-8 PFAM
Pfam:NAD_binding_8 393 460 1.6e-13 PFAM
Pfam:Amino_oxidase 398 824 3.7e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131120
Predicted Effect probably benign
Transcript: ENSMUST00000143518
SMART Domains Protein: ENSMUSP00000114999
Gene: ENSMUSG00000038080

DomainStartEndE-ValueType
Pfam:SWIRM 3 86 1.1e-12 PFAM
Pfam:Thi4 91 163 3.5e-10 PFAM
Pfam:FAD_binding_3 105 140 3.5e-7 PFAM
Pfam:HI0933_like 106 145 1.7e-7 PFAM
Pfam:Pyr_redox_2 106 251 1.5e-10 PFAM
Pfam:FAD_binding_2 107 150 5.7e-7 PFAM
Pfam:Pyr_redox 107 158 6.4e-8 PFAM
Pfam:Pyr_redox_3 109 288 1.2e-13 PFAM
Pfam:NAD_binding_8 110 177 2.3e-13 PFAM
Pfam:Amino_oxidase 115 181 8.6e-19 PFAM
Pfam:Amino_oxidase 178 441 4.5e-63 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 96% (86/90)
MGI Phenotype PHENOTYPE: Homozygous null mice of both sexes are viable, grossly normal and male mice are fertile; however, heterozygous progeny of homozygous null mothers display severe placental defects, embryonic growth impairment, neural tube defects and pericardial edema, and do not survive past E10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,845,853 (GRCm39) probably benign Het
Acadl A T 1: 66,880,805 (GRCm39) F320L probably damaging Het
Acsbg1 T C 9: 54,530,030 (GRCm39) D222G probably benign Het
Anapc15 A G 7: 101,547,240 (GRCm39) T39A probably benign Het
Ano3 A T 2: 110,491,519 (GRCm39) V919E probably damaging Het
Arhgef12 T C 9: 42,882,286 (GRCm39) probably null Het
Atad5 T A 11: 80,003,658 (GRCm39) I1091N probably benign Het
Atf1 A T 15: 100,130,708 (GRCm39) H26L possibly damaging Het
Atp10a T C 7: 58,434,482 (GRCm39) M252T probably benign Het
Btbd8 C T 5: 107,658,239 (GRCm39) T1603I probably damaging Het
Cd55 C T 1: 130,376,109 (GRCm39) R347H probably benign Het
Cdc27 A C 11: 104,403,853 (GRCm39) probably null Het
Cdh9 G A 15: 16,823,540 (GRCm39) probably null Het
Cdk11b T C 4: 155,726,969 (GRCm39) probably benign Het
Cep70 A G 9: 99,179,737 (GRCm39) D567G probably benign Het
Cep78 A T 19: 15,948,334 (GRCm39) Y382* probably null Het
Cgas G A 9: 78,343,020 (GRCm39) probably benign Het
Col9a2 T C 4: 120,901,857 (GRCm39) probably benign Het
Cyp2d12 G A 15: 82,443,164 (GRCm39) D409N probably benign Het
Ddx39a A G 8: 84,448,398 (GRCm39) T217A probably benign Het
Dennd1b T A 1: 139,097,934 (GRCm39) D733E probably benign Het
Dicer1 A G 12: 104,668,801 (GRCm39) S1294P probably damaging Het
Dnah3 T C 7: 119,542,795 (GRCm39) E3539G probably benign Het
Dnmbp A G 19: 43,840,875 (GRCm39) probably benign Het
Dysf T C 6: 84,126,739 (GRCm39) L1332P probably damaging Het
F5 A G 1: 164,010,409 (GRCm39) D380G probably damaging Het
Fam171a1 T C 2: 3,226,433 (GRCm39) V522A probably benign Het
Fhip1b A C 7: 105,038,680 (GRCm39) C186W probably damaging Het
Galr2 C A 11: 116,172,517 (GRCm39) A69D probably damaging Het
Grk2 T C 19: 4,340,628 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,262,188 (GRCm39) Y1119* probably null Het
Hgd A T 16: 37,409,047 (GRCm39) probably benign Het
Ildr2 G T 1: 166,136,468 (GRCm39) V436L probably benign Het
Intu G A 3: 40,629,735 (GRCm39) C355Y probably damaging Het
Irf2bpl G T 12: 86,929,870 (GRCm39) P268T probably benign Het
Jarid2 T C 13: 44,994,358 (GRCm39) probably null Het
Jup A T 11: 100,263,227 (GRCm39) M716K probably benign Het
Kank1 G A 19: 25,388,837 (GRCm39) V809I probably damaging Het
Kdm3a C T 6: 71,577,739 (GRCm39) C687Y probably damaging Het
Kdm5d T A Y: 942,437 (GRCm39) probably benign Het
Kifap3 T A 1: 163,693,121 (GRCm39) probably benign Het
Macf1 T A 4: 123,377,453 (GRCm39) K1400* probably null Het
Majin A G 19: 6,262,147 (GRCm39) probably benign Het
Mctp1 A G 13: 77,168,940 (GRCm39) I846V probably benign Het
Mrgpra2b T A 7: 47,113,875 (GRCm39) I286F possibly damaging Het
Neil3 T G 8: 54,062,431 (GRCm39) probably benign Het
Nox3 G T 17: 3,745,838 (GRCm39) N23K probably damaging Het
Nt5c3 T C 6: 56,860,797 (GRCm39) K219E probably benign Het
Or1e29 T A 11: 73,667,263 (GRCm39) M297L probably benign Het
Or52b4i T A 7: 102,191,893 (GRCm39) I250N probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or6b13 A C 7: 139,782,029 (GRCm39) F218C possibly damaging Het
Or6d13 A T 6: 116,517,446 (GRCm39) N11Y probably damaging Het
Or8g34 T C 9: 39,372,889 (GRCm39) L54P probably damaging Het
Pacsin2 A G 15: 83,263,996 (GRCm39) V347A possibly damaging Het
Pcdhb7 A T 18: 37,475,857 (GRCm39) E331V probably damaging Het
Pcid2 A C 8: 13,131,262 (GRCm39) probably null Het
Pcsk9 T C 4: 106,307,274 (GRCm39) D323G possibly damaging Het
Pdhb T C 14: 8,169,801 (GRCm38) E203G probably damaging Het
Phlpp2 A G 8: 110,655,095 (GRCm39) Y630C probably benign Het
Pidd1 C T 7: 141,019,046 (GRCm39) A812T probably damaging Het
Plau G A 14: 20,892,382 (GRCm39) R389H probably benign Het
Plekhg6 G A 6: 125,341,592 (GRCm39) probably null Het
Ppox T C 1: 171,105,322 (GRCm39) Y321C probably damaging Het
Pxdn A G 12: 30,037,065 (GRCm39) N281S possibly damaging Het
Pycr3 A T 15: 75,790,237 (GRCm39) M138K probably benign Het
Radil T C 5: 142,483,628 (GRCm39) Y526C probably damaging Het
Ranbp3 C A 17: 57,014,169 (GRCm39) D233E probably benign Het
Rhpn1 A G 15: 75,583,721 (GRCm39) Q402R possibly damaging Het
Sec23b T A 2: 144,410,532 (GRCm39) probably benign Het
Sel1l2 A T 2: 140,082,832 (GRCm39) L602* probably null Het
Sema5b G A 16: 35,466,725 (GRCm39) G209D probably damaging Het
Svep1 T C 4: 58,073,333 (GRCm39) Y1992C possibly damaging Het
Syncrip T A 9: 88,338,312 (GRCm39) probably benign Het
Synj1 G T 16: 90,764,242 (GRCm39) A65E probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tecrl T C 5: 83,502,610 (GRCm39) probably benign Het
Tenm4 G T 7: 96,427,058 (GRCm39) G698C probably damaging Het
Tmem209 G A 6: 30,491,181 (GRCm39) L259F probably damaging Het
Tmem247 G A 17: 87,225,931 (GRCm39) E124K possibly damaging Het
Tnks2 C A 19: 36,830,221 (GRCm39) A218E probably damaging Het
Tppp T A 13: 74,169,430 (GRCm39) F57I probably damaging Het
Trim36 A G 18: 46,305,592 (GRCm39) W452R probably damaging Het
Vars2 A T 17: 35,975,476 (GRCm39) V262E probably damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Zfp516 G T 18: 82,973,897 (GRCm39) A32S probably benign Het
Zfy2 G T Y: 2,107,348 (GRCm39) L429I possibly damaging Het
Other mutations in Kdm1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Kdm1b APN 13 47,222,016 (GRCm39) missense probably benign 0.01
IGL00924:Kdm1b APN 13 47,221,956 (GRCm39) missense probably benign
IGL01553:Kdm1b APN 13 47,234,024 (GRCm39) missense probably damaging 0.96
IGL01663:Kdm1b APN 13 47,227,213 (GRCm39) missense probably damaging 0.99
IGL02385:Kdm1b APN 13 47,221,982 (GRCm39) missense possibly damaging 0.49
IGL02505:Kdm1b APN 13 47,214,331 (GRCm39) missense probably damaging 1.00
IGL02826:Kdm1b APN 13 47,233,943 (GRCm39) missense probably damaging 1.00
IGL03257:Kdm1b APN 13 47,202,742 (GRCm39) missense probably damaging 1.00
R0052:Kdm1b UTSW 13 47,217,593 (GRCm39) missense probably damaging 1.00
R0319:Kdm1b UTSW 13 47,207,195 (GRCm39) missense probably benign
R0599:Kdm1b UTSW 13 47,212,286 (GRCm39) missense possibly damaging 0.47
R0764:Kdm1b UTSW 13 47,222,079 (GRCm39) missense possibly damaging 0.70
R1163:Kdm1b UTSW 13 47,225,398 (GRCm39) missense probably benign 0.02
R1543:Kdm1b UTSW 13 47,221,997 (GRCm39) missense probably damaging 0.99
R1584:Kdm1b UTSW 13 47,217,530 (GRCm39) missense probably damaging 1.00
R1627:Kdm1b UTSW 13 47,217,707 (GRCm39) critical splice donor site probably null
R1669:Kdm1b UTSW 13 47,222,024 (GRCm39) missense probably damaging 1.00
R1758:Kdm1b UTSW 13 47,214,244 (GRCm39) missense probably benign 0.00
R1860:Kdm1b UTSW 13 47,202,666 (GRCm39) missense probably benign 0.03
R1907:Kdm1b UTSW 13 47,217,596 (GRCm39) missense probably benign 0.00
R2225:Kdm1b UTSW 13 47,217,564 (GRCm39) frame shift probably null
R2239:Kdm1b UTSW 13 47,227,231 (GRCm39) missense probably damaging 1.00
R2271:Kdm1b UTSW 13 47,217,564 (GRCm39) frame shift probably null
R2302:Kdm1b UTSW 13 47,217,564 (GRCm39) frame shift probably null
R2303:Kdm1b UTSW 13 47,217,564 (GRCm39) frame shift probably null
R2380:Kdm1b UTSW 13 47,227,231 (GRCm39) missense probably damaging 1.00
R2442:Kdm1b UTSW 13 47,216,451 (GRCm39) missense probably benign 0.32
R3022:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R3054:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R3545:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R3546:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R3548:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R4094:Kdm1b UTSW 13 47,216,496 (GRCm39) missense probably damaging 1.00
R4419:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R4420:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R4502:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R4547:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R4548:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R4785:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R4793:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R4804:Kdm1b UTSW 13 47,216,553 (GRCm39) missense probably damaging 1.00
R4882:Kdm1b UTSW 13 47,214,369 (GRCm39) missense probably benign
R4906:Kdm1b UTSW 13 47,216,620 (GRCm39) critical splice donor site probably null
R4965:Kdm1b UTSW 13 47,227,843 (GRCm39) missense probably damaging 0.98
R5039:Kdm1b UTSW 13 47,230,962 (GRCm39) missense probably damaging 1.00
R5098:Kdm1b UTSW 13 47,216,467 (GRCm39) missense probably damaging 1.00
R5265:Kdm1b UTSW 13 47,216,445 (GRCm39) missense probably benign 0.35
R5541:Kdm1b UTSW 13 47,232,672 (GRCm39) missense probably damaging 1.00
R5814:Kdm1b UTSW 13 47,216,622 (GRCm39) splice site probably null
R6046:Kdm1b UTSW 13 47,232,729 (GRCm39) missense possibly damaging 0.92
R6798:Kdm1b UTSW 13 47,222,012 (GRCm39) missense probably benign 0.00
R6903:Kdm1b UTSW 13 47,227,880 (GRCm39) missense probably benign 0.00
R7831:Kdm1b UTSW 13 47,204,098 (GRCm39) missense probably benign 0.17
R7973:Kdm1b UTSW 13 47,230,922 (GRCm39) missense probably benign 0.00
R8181:Kdm1b UTSW 13 47,205,377 (GRCm39) critical splice donor site probably null
R8248:Kdm1b UTSW 13 47,225,354 (GRCm39) intron probably benign
R8821:Kdm1b UTSW 13 47,217,617 (GRCm39) missense possibly damaging 0.94
R8831:Kdm1b UTSW 13 47,217,617 (GRCm39) missense possibly damaging 0.94
R8842:Kdm1b UTSW 13 47,231,832 (GRCm39) missense probably damaging 1.00
R8861:Kdm1b UTSW 13 47,217,582 (GRCm39) missense probably benign 0.02
R8885:Kdm1b UTSW 13 47,207,184 (GRCm39) nonsense probably null
R9038:Kdm1b UTSW 13 47,202,770 (GRCm39) missense probably benign 0.07
R9132:Kdm1b UTSW 13 47,225,458 (GRCm39) missense probably benign 0.05
R9268:Kdm1b UTSW 13 47,217,705 (GRCm39) missense probably benign 0.00
R9616:Kdm1b UTSW 13 47,234,030 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGAACACAGGAAGCTCTCACCC -3'
(R):5'- GCAGAGTCTCACCTTCATCCCAAAG -3'

Sequencing Primer
(F):5'- GCTCTCACCCCTCAGAAGTG -3'
(R):5'- CTGGAAGGTTCTAACTGCTAAGC -3'
Posted On 2013-05-23