Incidental Mutation 'R8513:Kdm3b'
ID 656001
Institutional Source Beutler Lab
Gene Symbol Kdm3b
Ensembl Gene ENSMUSG00000038773
Gene Name KDM3B lysine (K)-specific demethylase 3B
Synonyms Jmjd1b, 5830462I21Rik, JHDM2B
MMRRC Submission 067889-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R8513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 34910100-34971713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34926129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 90 (A90S)
Ref Sequence ENSEMBL: ENSMUSP00000037628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043775] [ENSMUST00000224715] [ENSMUST00000225195]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043775
AA Change: A90S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: A90S

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 possibly damaging
Transcript: ENSMUST00000224715
AA Change: A90S

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000225195
AA Change: A90S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoe C A 7: 19,430,565 (GRCm39) G226W probably damaging Het
Armc9 T C 1: 86,090,405 (GRCm39) F67L probably damaging Het
Bsn T C 9: 107,991,709 (GRCm39) I1348V possibly damaging Het
Cdc73 C A 1: 143,493,129 (GRCm39) E402* probably null Het
Coro2a ACCAGAAGAGCCATCCAG ACCAG 4: 46,544,117 (GRCm39) probably null Het
Cpt2 G A 4: 107,764,123 (GRCm39) A547V probably damaging Het
Cpxm2 A T 7: 131,745,431 (GRCm39) H131Q probably benign Het
Ctdp1 G A 18: 80,492,678 (GRCm39) L606F possibly damaging Het
Dot1l T C 10: 80,627,260 (GRCm39) S1494P possibly damaging Het
Evpl C T 11: 116,120,570 (GRCm39) probably null Het
Fgd3 T C 13: 49,417,400 (GRCm39) T688A probably benign Het
Galnt3 A T 2: 65,924,064 (GRCm39) C401* probably null Het
Gml2 C G 15: 74,696,004 (GRCm39) P133A probably damaging Het
Hepacam A G 9: 37,291,930 (GRCm39) E86G probably benign Het
Ilf3 A G 9: 21,299,932 (GRCm39) E39G possibly damaging Het
Kiz A G 2: 146,712,684 (GRCm39) probably null Het
Myo1e T A 9: 70,227,370 (GRCm39) L147H probably damaging Het
Naa15 T A 3: 51,367,444 (GRCm39) V539E probably damaging Het
Nlrp6 A C 7: 140,502,743 (GRCm39) D283A possibly damaging Het
Ntf5 A G 7: 45,065,179 (GRCm39) T104A probably damaging Het
Or1e28-ps1 A G 11: 73,615,148 (GRCm39) V234A unknown Het
Pacsin3 A C 2: 91,093,150 (GRCm39) N214T probably benign Het
Pcdha6 T C 18: 37,102,229 (GRCm39) I474T probably damaging Het
Pcdhgb1 A G 18: 37,813,581 (GRCm39) Y24C probably damaging Het
Pde2a A T 7: 101,158,972 (GRCm39) N749Y probably damaging Het
Ptpn3 G A 4: 57,270,085 (GRCm39) R26* probably null Het
Rab7 T C 6: 87,981,250 (GRCm39) Y144C probably benign Het
Ralgps1 T C 2: 33,226,626 (GRCm39) S22G probably damaging Het
Setdb2 G A 14: 59,639,839 (GRCm39) T668M probably damaging Het
Slit2 T A 5: 48,382,050 (GRCm39) C510* probably null Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spata2l T C 8: 123,960,438 (GRCm39) M284V probably benign Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
Stab1 C A 14: 30,871,747 (GRCm39) probably null Het
Tmem184b A T 15: 79,254,123 (GRCm39) S142T probably benign Het
Tmem201 A T 4: 149,812,380 (GRCm39) M312K probably damaging Het
Tpp1 A T 7: 105,398,786 (GRCm39) D214E possibly damaging Het
Trav7-2 C T 14: 53,628,478 (GRCm39) S72F probably damaging Het
Vmn1r37 A G 6: 66,708,820 (GRCm39) T149A probably benign Het
Zfp512 T C 5: 31,637,425 (GRCm39) S505P probably damaging Het
Zfp942 T C 17: 22,147,282 (GRCm39) D449G probably benign Het
Other mutations in Kdm3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Kdm3b APN 18 34,942,462 (GRCm39) missense probably benign 0.03
IGL01357:Kdm3b APN 18 34,926,067 (GRCm39) missense probably damaging 1.00
IGL01615:Kdm3b APN 18 34,962,284 (GRCm39) missense probably damaging 1.00
IGL01980:Kdm3b APN 18 34,967,289 (GRCm39) missense probably damaging 1.00
IGL02277:Kdm3b APN 18 34,956,717 (GRCm39) missense probably damaging 1.00
IGL02346:Kdm3b APN 18 34,967,291 (GRCm39) missense probably damaging 1.00
IGL02417:Kdm3b APN 18 34,941,630 (GRCm39) missense probably benign 0.03
IGL02531:Kdm3b APN 18 34,928,782 (GRCm39) missense probably benign
IGL02589:Kdm3b APN 18 34,945,471 (GRCm39) missense possibly damaging 0.89
IGL02793:Kdm3b APN 18 34,962,072 (GRCm39) missense probably damaging 0.99
IGL03121:Kdm3b APN 18 34,928,762 (GRCm39) missense probably damaging 0.98
IGL03123:Kdm3b APN 18 34,942,544 (GRCm39) critical splice donor site probably null
IGL03128:Kdm3b APN 18 34,960,480 (GRCm39) missense probably damaging 1.00
Affable UTSW 18 34,926,058 (GRCm39) missense probably damaging 1.00
Dotage UTSW 18 34,960,435 (GRCm39) missense probably damaging 1.00
Endearing UTSW 18 34,960,381 (GRCm39) splice site probably null
Oldtimer UTSW 18 34,956,752 (GRCm39) nonsense probably null
PIT4382001:Kdm3b UTSW 18 34,942,140 (GRCm39) missense probably damaging 1.00
PIT4445001:Kdm3b UTSW 18 34,926,168 (GRCm39) nonsense probably null
R0068:Kdm3b UTSW 18 34,957,827 (GRCm39) missense probably benign 0.18
R0068:Kdm3b UTSW 18 34,957,827 (GRCm39) missense probably benign 0.18
R0233:Kdm3b UTSW 18 34,942,473 (GRCm39) missense probably damaging 0.97
R0265:Kdm3b UTSW 18 34,928,716 (GRCm39) splice site probably benign
R0306:Kdm3b UTSW 18 34,937,070 (GRCm39) missense probably benign 0.35
R0941:Kdm3b UTSW 18 34,936,605 (GRCm39) missense probably damaging 0.99
R0970:Kdm3b UTSW 18 34,942,092 (GRCm39) missense probably damaging 1.00
R1061:Kdm3b UTSW 18 34,929,915 (GRCm39) missense probably damaging 1.00
R1104:Kdm3b UTSW 18 34,952,864 (GRCm39) missense probably damaging 1.00
R1221:Kdm3b UTSW 18 34,941,298 (GRCm39) missense possibly damaging 0.57
R1486:Kdm3b UTSW 18 34,967,357 (GRCm39) missense probably damaging 1.00
R1523:Kdm3b UTSW 18 34,926,226 (GRCm39) critical splice donor site probably null
R1558:Kdm3b UTSW 18 34,942,149 (GRCm39) missense probably damaging 1.00
R1585:Kdm3b UTSW 18 34,942,345 (GRCm39) missense probably damaging 1.00
R1601:Kdm3b UTSW 18 34,941,784 (GRCm39) missense probably damaging 1.00
R1650:Kdm3b UTSW 18 34,942,168 (GRCm39) missense possibly damaging 0.93
R1772:Kdm3b UTSW 18 34,936,557 (GRCm39) missense probably benign 0.01
R1853:Kdm3b UTSW 18 34,966,446 (GRCm39) missense probably damaging 1.00
R1934:Kdm3b UTSW 18 34,946,597 (GRCm39) missense probably benign 0.04
R1959:Kdm3b UTSW 18 34,945,448 (GRCm39) missense possibly damaging 0.55
R2079:Kdm3b UTSW 18 34,936,570 (GRCm39) missense probably damaging 1.00
R2102:Kdm3b UTSW 18 34,963,200 (GRCm39) missense probably damaging 1.00
R2121:Kdm3b UTSW 18 34,929,833 (GRCm39) splice site probably benign
R2281:Kdm3b UTSW 18 34,941,472 (GRCm39) missense probably damaging 1.00
R3719:Kdm3b UTSW 18 34,941,724 (GRCm39) missense probably damaging 1.00
R3755:Kdm3b UTSW 18 34,941,349 (GRCm39) missense probably benign
R3857:Kdm3b UTSW 18 34,966,440 (GRCm39) missense probably benign
R4165:Kdm3b UTSW 18 34,928,797 (GRCm39) missense probably benign 0.01
R4166:Kdm3b UTSW 18 34,928,797 (GRCm39) missense probably benign 0.01
R4372:Kdm3b UTSW 18 34,960,497 (GRCm39) missense probably benign 0.00
R4672:Kdm3b UTSW 18 34,941,630 (GRCm39) missense probably benign
R4933:Kdm3b UTSW 18 34,943,446 (GRCm39) missense probably damaging 1.00
R4969:Kdm3b UTSW 18 34,955,428 (GRCm39) missense probably damaging 1.00
R5009:Kdm3b UTSW 18 34,957,763 (GRCm39) missense probably benign 0.42
R5059:Kdm3b UTSW 18 34,910,250 (GRCm39) missense possibly damaging 0.83
R5092:Kdm3b UTSW 18 34,946,515 (GRCm39) missense probably benign 0.16
R5270:Kdm3b UTSW 18 34,960,467 (GRCm39) missense probably damaging 1.00
R5816:Kdm3b UTSW 18 34,961,522 (GRCm39) missense probably damaging 0.99
R5970:Kdm3b UTSW 18 34,962,342 (GRCm39) missense probably damaging 1.00
R6244:Kdm3b UTSW 18 34,926,058 (GRCm39) missense probably damaging 1.00
R6705:Kdm3b UTSW 18 34,952,926 (GRCm39) missense probably damaging 1.00
R6723:Kdm3b UTSW 18 34,926,058 (GRCm39) missense probably damaging 0.99
R6909:Kdm3b UTSW 18 34,960,381 (GRCm39) splice site probably null
R6958:Kdm3b UTSW 18 34,941,336 (GRCm39) missense probably benign 0.00
R7026:Kdm3b UTSW 18 34,955,517 (GRCm39) missense possibly damaging 0.90
R7289:Kdm3b UTSW 18 34,927,557 (GRCm39) missense probably benign 0.00
R7488:Kdm3b UTSW 18 34,957,934 (GRCm39) missense probably damaging 0.97
R7587:Kdm3b UTSW 18 34,930,080 (GRCm39) splice site probably null
R7695:Kdm3b UTSW 18 34,927,612 (GRCm39) missense possibly damaging 0.86
R7846:Kdm3b UTSW 18 34,942,293 (GRCm39) missense possibly damaging 0.94
R7984:Kdm3b UTSW 18 34,956,752 (GRCm39) nonsense probably null
R7997:Kdm3b UTSW 18 34,941,336 (GRCm39) missense probably benign 0.00
R8035:Kdm3b UTSW 18 34,941,781 (GRCm39) missense probably damaging 1.00
R8064:Kdm3b UTSW 18 34,946,460 (GRCm39) critical splice acceptor site probably null
R8141:Kdm3b UTSW 18 34,961,599 (GRCm39) nonsense probably null
R8302:Kdm3b UTSW 18 34,967,388 (GRCm39) missense probably damaging 1.00
R8328:Kdm3b UTSW 18 34,926,123 (GRCm39) missense probably damaging 1.00
R8443:Kdm3b UTSW 18 34,926,129 (GRCm39) missense probably benign 0.04
R8515:Kdm3b UTSW 18 34,926,129 (GRCm39) missense probably benign 0.04
R8523:Kdm3b UTSW 18 34,926,129 (GRCm39) missense probably benign 0.04
R8717:Kdm3b UTSW 18 34,952,840 (GRCm39) missense probably damaging 0.98
R8725:Kdm3b UTSW 18 34,960,435 (GRCm39) missense probably damaging 1.00
R8727:Kdm3b UTSW 18 34,960,435 (GRCm39) missense probably damaging 1.00
R8762:Kdm3b UTSW 18 34,937,157 (GRCm39) missense probably benign
R8835:Kdm3b UTSW 18 34,941,802 (GRCm39) missense probably damaging 1.00
R8918:Kdm3b UTSW 18 34,970,650 (GRCm39) missense probably damaging 1.00
R9015:Kdm3b UTSW 18 34,963,212 (GRCm39) missense probably damaging 1.00
R9144:Kdm3b UTSW 18 34,927,558 (GRCm39) missense probably benign
R9246:Kdm3b UTSW 18 34,941,480 (GRCm39) nonsense probably null
R9376:Kdm3b UTSW 18 34,970,718 (GRCm39) missense probably damaging 0.99
X0028:Kdm3b UTSW 18 34,932,319 (GRCm39) splice site probably null
X0067:Kdm3b UTSW 18 34,956,570 (GRCm39) missense probably benign 0.00
Z1176:Kdm3b UTSW 18 34,942,122 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCCCAATAAGTCAGTTTCCTTTTAATC -3'
(R):5'- CCGGAGCCCTCAGTGATC -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- AGCCCTCAGTGATCTGGAAGTC -3'
Posted On 2020-10-20