Mutagenetix > Incidental Mutation

Incidental Mutation 'R0306:Kdm3b'

35827

Institutional Source

Beutler Lab

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

Jmjd1b, 5830462I21Rik, JHDM2B

MMRRC Submission

038517-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R0306 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

34910100-34971713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34937070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 451 (Q451K)

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: Q451K

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: Q451K

Domain	Start	End	E-Value	Type
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: ENSMUST00000180512

Predicted Effect

probably benign
Transcript: ENSMUST00000224715
AA Change: Q451K

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225047

Predicted Effect

probably benign
Transcript: ENSMUST00000225195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225260

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (61/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	T	C	6: 48,953,020 (GRCm39)	V315A	probably damaging	Het
BC028528	C	T	3: 95,797,132 (GRCm39)		probably benign	Het
Bspry	T	C	4: 62,414,394 (GRCm39)	F329S	probably damaging	Het
Cd209a	A	G	8: 3,795,535 (GRCm39)	Y120H	probably benign	Het
Ces1f	T	C	8: 94,003,172 (GRCm39)		probably benign	Het
Cfap52	T	C	11: 67,844,896 (GRCm39)	N58D	probably benign	Het
Cfap74	G	A	4: 155,549,896 (GRCm39)		probably benign	Het
Chst8	T	C	7: 34,374,723 (GRCm39)	E372G	probably benign	Het
Cplane1	T	C	15: 8,209,373 (GRCm39)	V270A	probably damaging	Het
Ddx49	A	G	8: 70,747,322 (GRCm39)		probably benign	Het
Ddx52	G	T	11: 83,835,474 (GRCm39)	L133F	probably benign	Het
Defb26	T	A	2: 152,349,888 (GRCm39)	I131F	unknown	Het
Dip2c	T	A	13: 9,654,635 (GRCm39)	S719T	probably benign	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Dytn	G	A	1: 63,724,272 (GRCm39)	P3S	possibly damaging	Het
Fmn2	T	C	1: 174,437,050 (GRCm39)		probably benign	Het
Gal3st1	T	A	11: 3,948,546 (GRCm39)	L251Q	probably damaging	Het
Gm19684	A	T	17: 36,438,300 (GRCm39)		probably benign	Het
Il15	T	A	8: 83,061,083 (GRCm39)		probably benign	Het
Jag1	C	T	2: 136,927,855 (GRCm39)	G852D	probably damaging	Het
Kbtbd4	A	G	2: 90,744,530 (GRCm39)		probably benign	Het
Lrfn2	A	T	17: 49,403,283 (GRCm39)	I469F	probably damaging	Het
Mep1a	A	T	17: 43,813,534 (GRCm39)		probably benign	Het
Morn5	T	C	2: 35,944,986 (GRCm39)	F70S	probably damaging	Het
Nav2	C	A	7: 49,195,651 (GRCm39)	P1009Q	probably benign	Het
Noc3l	T	C	19: 38,796,094 (GRCm39)	Y334C	probably damaging	Het
Nsun4	A	T	4: 115,910,019 (GRCm39)	Y180*	probably null	Het
Nup210l	T	C	3: 90,114,675 (GRCm39)	I1750T	probably benign	Het
Or51s1	A	T	7: 102,559,010 (GRCm39)	I12N	probably benign	Het
Or5p53	A	T	7: 107,532,907 (GRCm39)	Y60F	probably damaging	Het
Or8u9	T	A	2: 86,002,060 (GRCm39)	I34F	possibly damaging	Het
Parp14	A	G	16: 35,676,944 (GRCm39)	L1008P	probably benign	Het
Paxbp1	A	G	16: 90,819,003 (GRCm39)	V759A	possibly damaging	Het
Prdm10	C	A	9: 31,227,520 (GRCm39)	Q42K	probably damaging	Het
Prkcsh	T	C	9: 21,917,822 (GRCm39)		probably benign	Het
Psmg1	A	G	16: 95,788,540 (GRCm39)	C138R	probably damaging	Het
Ptprb	T	C	10: 116,179,893 (GRCm39)	M1437T	probably benign	Het
Ryr3	A	G	2: 112,606,000 (GRCm39)		probably null	Het
Serpinf1	T	C	11: 75,304,761 (GRCm39)	Y200C	probably damaging	Het
Shox2	T	C	3: 66,881,167 (GRCm39)	H130R	probably damaging	Het
Slc22a1	A	G	17: 12,881,485 (GRCm39)	F335L	probably benign	Het
Slc44a5	A	G	3: 153,975,638 (GRCm39)	N683S	probably damaging	Het
Slc9a9	A	T	9: 95,019,987 (GRCm39)	T519S	probably benign	Het
Smarca2	T	A	19: 26,618,013 (GRCm39)	L348Q	probably damaging	Het
Sorbs1	T	C	19: 40,332,855 (GRCm39)	D521G	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Srp19	T	C	18: 34,467,629 (GRCm39)		probably benign	Het
Stk35	T	A	2: 129,643,683 (GRCm39)	Y222*	probably null	Het
Syt10	T	G	15: 89,711,191 (GRCm39)	K114T	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Trpc4ap	A	G	2: 155,478,180 (GRCm39)	V662A	probably benign	Het
Ttll4	G	A	1: 74,735,916 (GRCm39)	R1066Q	probably benign	Het
Tulp2	C	T	7: 45,168,000 (GRCm39)		probably benign	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Vmn1r230	T	A	17: 21,066,895 (GRCm39)	I28K	possibly damaging	Het
Vmn2r118	A	C	17: 55,915,616 (GRCm39)	F445V	possibly damaging	Het
Zfp142	C	T	1: 74,609,341 (GRCm39)	E1485K	probably damaging	Het
Zfp819	C	A	7: 43,266,621 (GRCm39)	A292E	possibly damaging	Het

Other mutations in Kdm3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GCAACATTCGCTTTGCCACTTACAC -3'
(R):5'- GTCCAGAGAGAACACAAGCTGAGTC -3'

Sequencing Primer
(F):5'- TATGCTTCAGCCACAGGTCAG -3'
(R):5'- CAAGCTGAGTCTGTATCAGAACTCTC -3'

Posted On

2013-05-09