Incidental Mutation 'R7997:Kdm3b'
ID 616167
Institutional Source Beutler Lab
Gene Symbol Kdm3b
Ensembl Gene ENSMUSG00000038773
Gene Name KDM3B lysine (K)-specific demethylase 3B
Synonyms Jmjd1b, 5830462I21Rik, JHDM2B
MMRRC Submission 046037-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R7997 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 34910100-34971713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34941336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 276 (S276T)
Ref Sequence ENSEMBL: ENSMUSP00000153446 (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: S476T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: S476T

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 probably benign
Transcript: ENSMUST00000224715
Predicted Effect probably benign
Transcript: ENSMUST00000225195
AA Change: S276T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik G A 14: 41,766,209 (GRCm39) probably benign Het
Abra A C 15: 41,729,593 (GRCm39) M269R probably damaging Het
Atp6v0e2 A G 6: 48,514,718 (GRCm39) I12V probably benign Het
Bicral T A 17: 47,112,534 (GRCm39) I889F probably benign Het
Cabin1 A G 10: 75,569,609 (GRCm39) V826A probably benign Het
Casq2 A T 3: 101,994,158 (GRCm39) K68N probably damaging Het
Cdh23 C A 10: 60,432,518 (GRCm39) Q135H possibly damaging Het
Chn2 A T 6: 54,267,270 (GRCm39) H253L probably damaging Het
Dnajc22 A G 15: 98,999,514 (GRCm39) E233G probably damaging Het
Fbxo6 A G 4: 148,231,852 (GRCm39) S96P possibly damaging Het
Gimap6 G T 6: 48,679,249 (GRCm39) N262K probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Grid2 C A 6: 64,297,120 (GRCm39) H494Q possibly damaging Het
Hmgcl T A 4: 135,687,320 (GRCm39) Y198* probably null Het
Hmgxb4 A T 8: 75,727,956 (GRCm39) Y313F probably damaging Het
Hr G A 14: 70,801,043 (GRCm39) W676* probably null Het
Insc A G 7: 114,444,372 (GRCm39) D453G probably damaging Het
Iqub T C 6: 24,501,413 (GRCm39) N179S possibly damaging Het
Kmt2a C A 9: 44,745,220 (GRCm39) K1597N unknown Het
Kntc1 T C 5: 123,916,117 (GRCm39) V682A probably damaging Het
Mcm9 T A 10: 53,473,502 (GRCm39) probably benign Het
Med30 T C 15: 52,593,467 (GRCm39) L149P probably damaging Het
Mmd2 T A 5: 142,560,615 (GRCm39) H102L possibly damaging Het
Mtres1 T C 10: 43,401,356 (GRCm39) T198A probably benign Het
Mybph G A 1: 134,122,405 (GRCm39) R150H probably damaging Het
Ndufaf4 A G 4: 24,901,919 (GRCm39) T156A probably benign Het
Or2g1 T A 17: 38,107,053 (GRCm39) C239* probably null Het
Pecr T A 1: 72,315,475 (GRCm39) K92* probably null Het
Pithd1 T C 4: 135,703,723 (GRCm39) T207A probably benign Het
Prdm10 T A 9: 31,264,721 (GRCm39) C719S probably damaging Het
Rasef C A 4: 73,658,799 (GRCm39) W316L possibly damaging Het
Robo1 T C 16: 72,701,581 (GRCm39) V149A probably damaging Het
Ryr1 A T 7: 28,702,968 (GRCm39) V5034D unknown Het
Slc26a10 A G 10: 127,009,178 (GRCm39) V661A possibly damaging Het
Slc30a8 T G 15: 52,189,081 (GRCm39) I232S possibly damaging Het
Smg1 A G 7: 117,772,364 (GRCm39) F1464L unknown Het
Smg1 A C 7: 117,772,365 (GRCm39) H1463Q unknown Het
Spata1 G A 3: 146,182,035 (GRCm39) A245V probably benign Het
St8sia1 C T 6: 142,909,376 (GRCm39) C40Y probably damaging Het
Strn T C 17: 78,991,672 (GRCm39) T216A probably benign Het
Tecpr2 G A 12: 110,900,037 (GRCm39) E802K probably benign Het
Tenm4 A G 7: 96,523,512 (GRCm39) I1685V probably benign Het
Tyw5 T C 1: 57,427,683 (GRCm39) D307G probably benign Het
Usp17le A T 7: 104,418,046 (GRCm39) D365E possibly damaging Het
Vmn1r13 T G 6: 57,187,329 (GRCm39) S163A possibly damaging Het
Vmn1r75 A T 7: 11,614,600 (GRCm39) T111S probably damaging Het
Wdr95 G T 5: 149,502,622 (GRCm39) probably null Het
Zfp292 G A 4: 34,808,688 (GRCm39) P1457L probably damaging Het
Zfp606 T A 7: 12,223,519 (GRCm39) V10E probably damaging Het
Zfp606 T C 7: 12,228,134 (GRCm39) S752P possibly damaging Het
Zscan29 T G 2: 120,991,221 (GRCm39) S856R 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
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
R8513: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'- GTTTTCTCGATACCAGTGCTG -3'
(R):5'- CCTGCTCAGGTAGTTAGTGCTG -3'

Sequencing Primer
(F):5'- TGGTGAAATCCAGGTGTAAGAGC -3'
(R):5'- CTGGGTACATTTTGGGACATGC -3'
Posted On 2020-01-23