Incidental Mutation 'R4419:Kdm1b'
ID 327014
Institutional Source Beutler Lab
Gene Symbol Kdm1b
Ensembl Gene ENSMUSG00000038080
Gene Name lysine (K)-specific demethylase 1B
Synonyms Aof1, 4632428N09Rik
MMRRC Submission 041140-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R4419 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 47196849-47238085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47216553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 308 (R308W)
Ref Sequence ENSEMBL: ENSMUSP00000038373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037025]
AlphaFold Q8CIG3
Predicted Effect probably damaging
Transcript: ENSMUST00000037025
AA Change: R308W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038373
Gene: ENSMUSG00000038080
AA Change: R308W

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 unknown
Transcript: ENSMUST00000143518
AA Change: R24W
SMART Domains Protein: ENSMUSP00000114999
Gene: ENSMUSG00000038080
AA Change: R24W

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amdhd2 G A 17: 24,377,652 (GRCm39) P126L probably benign Het
Arfip2 T C 7: 105,288,270 (GRCm39) T44A probably damaging Het
B4galt1 A G 4: 40,853,537 (GRCm39) V90A probably benign Het
Bad C A 19: 6,928,053 (GRCm39) A115E probably benign Het
Bicc1 A G 10: 70,782,804 (GRCm39) L521P possibly damaging Het
Caskin1 T C 17: 24,723,683 (GRCm39) S824P probably damaging Het
Cblb T A 16: 51,867,621 (GRCm39) D76E possibly damaging Het
Celsr3 G T 9: 108,720,443 (GRCm39) A2572S possibly damaging Het
Csmd3 T C 15: 47,567,707 (GRCm39) Q2152R probably damaging Het
D2hgdh T A 1: 93,757,535 (GRCm39) V150E probably damaging Het
Ddn C A 15: 98,703,492 (GRCm39) W600L probably benign Het
Dicer1 A T 12: 104,671,373 (GRCm39) Y966N probably damaging Het
Dsp T A 13: 38,379,108 (GRCm39) I1352N probably damaging Het
Duox1 G A 2: 122,157,607 (GRCm39) A578T probably benign Het
Dysf T C 6: 84,184,224 (GRCm39) probably null Het
Elmo2 T C 2: 165,153,675 (GRCm39) probably null Het
Heg1 A T 16: 33,547,805 (GRCm39) E864V probably benign Het
Hoxb9 T C 11: 96,162,807 (GRCm39) V147A probably benign Het
Ky G A 9: 102,419,909 (GRCm39) V639I probably damaging Het
Med16 G A 10: 79,734,216 (GRCm39) A566V probably benign Het
Mettl17 G T 14: 52,124,729 (GRCm39) G167C possibly damaging Het
Mgat4b T C 11: 50,123,813 (GRCm39) F318L probably damaging Het
Mug2 C A 6: 122,056,589 (GRCm39) A1178D probably damaging Het
Myo3b A G 2: 69,926,706 (GRCm39) D51G probably damaging Het
Naip2 T C 13: 100,297,133 (GRCm39) N968D probably benign Het
Nbea T C 3: 55,917,021 (GRCm39) H820R probably damaging Het
Nqo1 C T 8: 108,118,749 (GRCm39) probably null Het
Or10ak7 A T 4: 118,791,586 (GRCm39) I153N possibly damaging Het
Or6c68 T C 10: 129,157,684 (GRCm39) F64S possibly damaging Het
Or8b51 C T 9: 38,569,365 (GRCm39) V108I probably benign Het
Ppargc1a T C 5: 51,652,044 (GRCm39) D218G probably damaging Het
Rras A G 7: 44,670,003 (GRCm39) D145G probably damaging Het
Scn3a C A 2: 65,297,304 (GRCm39) G1452C probably damaging Het
Slc22a2 C A 17: 12,831,473 (GRCm39) S421* probably null Het
Slc39a10 A G 1: 46,849,226 (GRCm39) F797L probably benign Het
Spta1 T A 1: 174,074,990 (GRCm39) Y2405* probably null Het
Ss18 A G 18: 14,766,662 (GRCm39) Y359H unknown Het
St14 C T 9: 31,008,224 (GRCm39) C537Y probably damaging Het
Tmem252 T A 19: 24,654,910 (GRCm39) Y96N probably damaging Het
Trafd1 T C 5: 121,511,396 (GRCm39) D474G probably benign Het
Trmt1l A G 1: 151,316,559 (GRCm39) I20M probably damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn1r43 A G 6: 89,846,629 (GRCm39) S286P probably benign 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
R0426:Kdm1b UTSW 13 47,217,720 (GRCm39) splice site 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
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'- GTTTTGCAAGTCCCAGCTTG -3'
(R):5'- TAGTCACCATGGCTGACGAC -3'

Sequencing Primer
(F):5'- CAAGTCCCAGCTTGCAGAG -3'
(R):5'- AGTTAGTCACCATGGCTGAC -3'
Posted On 2015-07-07