Mutagenetix > Incidental Mutation

Incidental Mutation 'R0068:Kdm3b'

16262

Institutional Source

Beutler Lab

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

Jmjd1b, 5830462I21Rik, JHDM2B

MMRRC Submission

038359-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R0068 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

34910100-34971713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34957827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1064 (T1064I)

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: T1264I

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: T1264I

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: ENSMUST00000223567

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224065

Predicted Effect

probably benign
Transcript: ENSMUST00000225195
AA Change: T1064I

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0586

Coding Region Coverage

1x: 89.9%
3x: 97.6%
10x: 82.1%
20x: 74.0%

Validation Efficiency

94% (83/88)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,036,405 (GRCm39)	N568S	probably damaging	Het
Aldoart2	G	T	12: 55,612,233 (GRCm39)	E53*	probably null	Het
Ankra2	C	T	13: 98,409,891 (GRCm39)	Q137*	probably null	Het
Arpc1a	C	T	5: 145,028,054 (GRCm39)	T21I	possibly damaging	Het
Arvcf	T	C	16: 18,214,819 (GRCm39)		probably benign	Het
Ash1l	C	A	3: 88,914,624 (GRCm39)	S1751R	probably benign	Het
Bltp1	A	G	3: 37,006,370 (GRCm39)	T1675A	probably benign	Het
Bsn	C	A	9: 107,989,336 (GRCm39)	G2139C	probably damaging	Het
Cbl	A	T	9: 44,065,491 (GRCm39)	S22T	probably damaging	Het
Ccdc148	T	C	2: 58,717,629 (GRCm39)	E530G	probably benign	Het
Cct3	A	G	3: 88,225,772 (GRCm39)	D365G	probably benign	Het
Cep85	A	T	4: 133,881,606 (GRCm39)	H332Q	probably benign	Het
Cwf19l1	A	T	19: 44,119,938 (GRCm39)	Y68N	probably damaging	Het
Dlc1	T	A	8: 37,404,875 (GRCm39)	M305L	probably benign	Het
Dnm1l	C	A	16: 16,141,883 (GRCm39)	G288C	probably damaging	Het
Exoc7	T	C	11: 116,195,732 (GRCm39)	Y83C	probably damaging	Het
Fignl2	A	T	15: 100,952,129 (GRCm39)	I51N	probably damaging	Het
Flnb	A	G	14: 7,915,290 (GRCm38)	N1474D	possibly damaging	Het
Ghrhr	C	T	6: 55,357,849 (GRCm39)		probably benign	Het
Gucy1b1	T	C	3: 81,942,185 (GRCm39)	T525A	probably benign	Het
Hhip	T	G	8: 80,715,885 (GRCm39)	D557A	probably damaging	Het
Hps5	A	G	7: 46,426,466 (GRCm39)		probably benign	Het
Igsf10	A	T	3: 59,238,045 (GRCm39)	V712D	probably damaging	Het
Irf6	G	T	1: 192,848,067 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,323,034 (GRCm39)		probably benign	Het
Jag2	A	G	12: 112,878,813 (GRCm39)		probably benign	Het
Kansl1l	A	G	1: 66,760,047 (GRCm39)	V911A	probably benign	Het
Lrriq1	T	A	10: 102,899,279 (GRCm39)	Q1654L	probably benign	Het
Ltbp1	A	G	17: 75,666,404 (GRCm39)	T1366A	probably damaging	Het
Mroh1	A	G	15: 76,330,892 (GRCm39)		probably benign	Het
Napb	G	A	2: 148,540,843 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,439,782 (GRCm39)	R164*	probably null	Het
Npc1	G	C	18: 12,341,424 (GRCm39)	P532A	probably benign	Het
Nrp2	G	T	1: 62,784,536 (GRCm39)	K228N	possibly damaging	Het
Or13f5	T	A	4: 52,825,503 (GRCm39)	Y35*	probably null	Het
Plekhg1	A	T	10: 3,890,502 (GRCm39)	Y386F	probably damaging	Het
Pmfbp1	G	C	8: 110,269,011 (GRCm39)		probably benign	Het
Poln	T	C	5: 34,234,432 (GRCm39)		probably benign	Het
Polr1c	A	G	17: 46,555,829 (GRCm39)	V200A	probably benign	Het
Ppil1	A	T	17: 29,471,230 (GRCm39)	F92I	probably damaging	Het
Ptchd3	T	G	11: 121,733,798 (GRCm39)	L896R	probably damaging	Het
Rev3l	A	G	10: 39,700,827 (GRCm39)	N1775D	possibly damaging	Het
Robo4	G	A	9: 37,315,773 (GRCm39)	R342Q	probably benign	Het
Rusc2	T	C	4: 43,424,100 (GRCm39)		probably benign	Het
S100pbp	T	C	4: 129,038,249 (GRCm39)		probably benign	Het
Slc25a48	T	C	13: 56,599,024 (GRCm39)	V118A	probably damaging	Het
Slc38a10	T	C	11: 120,025,679 (GRCm39)	D219G	probably damaging	Het
Slc38a2	C	T	15: 96,589,173 (GRCm39)		probably null	Het
Slc39a12	A	G	2: 14,440,489 (GRCm39)	E480G	probably benign	Het
Tab2	C	A	10: 7,795,441 (GRCm39)	R347L	probably damaging	Het
Tas2r123	T	C	6: 132,824,955 (GRCm39)	I284T	possibly damaging	Het
Tex9	A	G	9: 72,394,051 (GRCm39)		probably benign	Het
Tifab	A	G	13: 56,324,218 (GRCm39)	L75P	probably damaging	Het
Tmc5	T	A	7: 118,233,460 (GRCm39)	D91E	probably benign	Het
Tnks1bp1	T	A	2: 84,892,696 (GRCm39)	D212E	probably benign	Het
Ugcg	A	G	4: 59,217,130 (GRCm39)	D218G	probably benign	Het
Zfp451	A	T	1: 33,816,706 (GRCm39)	L198I	probably 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
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
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

Posted On

2013-01-20