Incidental Mutation 'R1934:Kdm3b'
ID 215748
Institutional Source Beutler Lab
Gene Symbol Kdm3b
Ensembl Gene ENSMUSG00000038773
Gene Name KDM3B lysine (K)-specific demethylase 3B
Synonyms Jmjd1b, 5830462I21Rik, JHDM2B
MMRRC Submission 039952-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.943) question?
Stock # R1934 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 34910100-34971713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34946597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 862 (K862R)
Ref Sequence ENSEMBL: ENSMUSP00000153446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043775] [ENSMUST00000225195]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043775
AA Change: K1062R

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: K1062R

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: ENSMUST00000224065
Predicted Effect probably benign
Transcript: ENSMUST00000225195
AA Change: K862R

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,626,792 (GRCm39) L548P probably damaging Het
Abca6 A G 11: 110,100,909 (GRCm39) probably null Het
Abcb5 A G 12: 118,871,235 (GRCm39) probably null Het
Acacb G A 5: 114,336,343 (GRCm39) A686T probably benign Het
Acot6 T C 12: 84,153,367 (GRCm39) V203A probably benign Het
Adam25 A T 8: 41,207,922 (GRCm39) Y396F probably benign Het
Adamts9 A G 6: 92,920,102 (GRCm39) L12P possibly damaging Het
Adamtsl2 A T 2: 26,979,605 (GRCm39) D258V probably damaging Het
Aox4 G A 1: 58,285,095 (GRCm39) V616I probably benign Het
Ap1m1 A G 8: 73,009,637 (GRCm39) I382V probably damaging Het
Arhgef2 G A 3: 88,537,098 (GRCm39) R8Q probably damaging Het
Arhgef37 T G 18: 61,657,014 (GRCm39) E17A probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Arih1 T C 9: 59,302,215 (GRCm39) D431G probably damaging Het
Astn2 C T 4: 65,353,426 (GRCm39) V1115M probably damaging Het
Atg7 T A 6: 114,678,196 (GRCm39) M280K probably damaging Het
Birc2 T C 9: 7,854,500 (GRCm39) T397A possibly damaging Het
Ccdc110 A G 8: 46,396,287 (GRCm39) N726S probably damaging Het
Cdadc1 A T 14: 59,827,309 (GRCm39) S121T possibly damaging Het
Cdh16 A G 8: 105,344,595 (GRCm39) V7A possibly damaging Het
Cenpb A G 2: 131,021,184 (GRCm39) S205P probably benign Het
Chsy1 T C 7: 65,821,991 (GRCm39) V742A probably damaging Het
Col12a1 G A 9: 79,511,804 (GRCm39) R133* probably null Het
Col18a1 A C 10: 76,948,578 (GRCm39) S311R possibly damaging Het
Col9a3 G A 2: 180,248,927 (GRCm39) V260M probably damaging Het
Coq2 T A 5: 100,809,731 (GRCm39) R17S probably damaging Het
Ctf1 A G 7: 127,311,936 (GRCm39) R4G probably damaging Het
Cwc27 T C 13: 104,768,184 (GRCm39) D437G probably benign Het
Cyp4f14 T C 17: 33,125,289 (GRCm39) N430D probably damaging Het
Dars2 A G 1: 160,890,811 (GRCm39) probably null Het
Dgkz A T 2: 91,767,449 (GRCm39) M848K possibly damaging Het
Dnhd1 T G 7: 105,357,789 (GRCm39) V3208G probably benign Het
Dsg1b A G 18: 20,528,963 (GRCm39) Y233C probably damaging Het
Edem3 A T 1: 151,680,034 (GRCm39) D460V probably damaging Het
Ednra A G 8: 78,415,747 (GRCm39) S167P possibly damaging Het
Eif3m A T 2: 104,831,624 (GRCm39) V180D probably damaging Het
Fam217a T A 13: 35,094,864 (GRCm39) R207S probably damaging Het
Fcgbp G A 7: 27,806,518 (GRCm39) G2162D probably damaging Het
Fhod3 A T 18: 25,223,335 (GRCm39) I894F probably benign Het
Fpgs A T 2: 32,577,993 (GRCm39) I143N probably damaging Het
Fpr-rs6 A G 17: 20,403,152 (GRCm39) S70P probably benign Het
Frs2 T C 10: 116,914,806 (GRCm39) M38V probably damaging Het
Fsip2 A G 2: 82,810,902 (GRCm39) N2407S possibly damaging Het
Gabrg2 T A 11: 41,811,297 (GRCm39) T283S probably benign Het
Gas2l1 T A 11: 5,011,408 (GRCm39) T474S probably benign Het
Gli1 A T 10: 127,167,108 (GRCm39) M715K possibly damaging Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm5800 T A 14: 51,949,396 (GRCm39) N183I possibly damaging Het
Gm8674 T A 13: 50,055,471 (GRCm39) noncoding transcript Het
Gnat3 A T 5: 18,224,508 (GRCm39) I303F possibly damaging Het
Grin2d C T 7: 45,506,251 (GRCm39) V547M probably damaging Het
Grpr C A X: 162,332,137 (GRCm39) V53L probably benign Het
Heatr5b T C 17: 79,103,347 (GRCm39) I1169V possibly damaging Het
Icam5 A G 9: 20,946,082 (GRCm39) T305A probably benign Het
Itga11 T A 9: 62,651,796 (GRCm39) N309K probably damaging Het
Itgb6 T C 2: 60,499,493 (GRCm39) D100G probably benign Het
Kif7 T C 7: 79,361,286 (GRCm39) D135G probably benign Het
Lrp4 A G 2: 91,310,777 (GRCm39) D606G probably damaging Het
Lrrtm1 A T 6: 77,221,949 (GRCm39) probably null Het
Metap1d A T 2: 71,352,927 (GRCm39) H252L possibly damaging Het
Mfhas1 A G 8: 36,058,251 (GRCm39) K909E possibly damaging Het
Mrgprh C T 17: 13,095,838 (GRCm39) T26I probably damaging Het
Myo15b T C 11: 115,754,310 (GRCm39) S937P probably benign Het
Neto2 A T 8: 86,397,033 (GRCm39) I73N possibly damaging Het
Nod2 T C 8: 89,390,347 (GRCm39) I196T probably benign Het
Nvl T G 1: 180,926,693 (GRCm39) T788P probably damaging Het
Or13a25 C A 7: 140,247,951 (GRCm39) C243* probably null Het
Or2h2 A T 17: 37,396,906 (GRCm39) D50E possibly damaging Het
Pax3 G A 1: 78,080,117 (GRCm39) T423I possibly damaging Het
Pde4dip A G 3: 97,600,007 (GRCm39) V2403A possibly damaging Het
Phip C T 9: 82,785,235 (GRCm39) V827I probably benign Het
Plcb3 A G 19: 6,941,977 (GRCm39) F285L probably damaging Het
Pnp2 A G 14: 51,193,675 (GRCm39) I16V probably benign Het
Pola2 A G 19: 6,003,769 (GRCm39) L202P probably damaging Het
Ppfia1 A T 7: 144,058,847 (GRCm39) N651K probably benign Het
Prss53 T C 7: 127,485,920 (GRCm39) probably null Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Rasgrf2 A T 13: 92,131,825 (GRCm39) probably null Het
Rccd1 T A 7: 79,970,272 (GRCm39) N115I possibly damaging Het
Rpgrip1 A T 14: 52,352,101 (GRCm39) T26S possibly damaging Het
Rpn1 T A 6: 88,070,841 (GRCm39) V237E probably damaging Het
Sema4f G T 6: 82,907,908 (GRCm39) P180Q probably damaging Het
Slc36a4 T C 9: 15,632,085 (GRCm39) V87A probably damaging Het
Slc5a4b A T 10: 75,917,307 (GRCm39) V243E possibly damaging Het
Sos2 T G 12: 69,695,315 (GRCm39) I141L probably damaging Het
Srbd1 A G 17: 86,410,321 (GRCm39) V537A probably damaging Het
Sugp1 A G 8: 70,509,225 (GRCm39) E166G possibly damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tshr T C 12: 91,503,955 (GRCm39) S298P probably damaging Het
Tspan14 T C 14: 40,656,209 (GRCm39) Y6C probably damaging Het
Ttn A T 2: 76,577,384 (GRCm39) V24503E probably damaging Het
Vcan T A 13: 89,851,045 (GRCm39) N1305I probably damaging Het
Vmn2r81 A G 10: 79,083,628 (GRCm39) M1V probably null Het
Vps39 A T 2: 120,148,558 (GRCm39) V873E probably damaging Het
Vstm2a A T 11: 16,359,734 (GRCm39) D270V unknown Het
Wdr24 A T 17: 26,043,240 (GRCm39) M21L possibly damaging Het
Wee1 A G 7: 109,721,698 (GRCm39) T48A probably benign Het
Zfp369 T C 13: 65,444,965 (GRCm39) C703R probably damaging Het
Zfp532 A T 18: 65,818,682 (GRCm39) D1114V probably damaging Het
Zfp758 A G 17: 22,592,633 (GRCm39) T46A probably damaging 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
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
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'- CAGTCGGAACTGCACAAGTG -3'
(R):5'- TGGGCTGAACTTTGGCAATC -3'

Sequencing Primer
(F):5'- GGAACTGCACAAGTGTTCTTC -3'
(R):5'- GCAGTCAAGAAGATACTGCTCTTGC -3'
Posted On 2014-07-14