Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01615:Kdm3b'

92351

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

JHDM2B, Jmjd1b, 5830462I21Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL01615

Quality Score

Status

Chromosome

Chromosomal Location

34777047-34838660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34829231 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1523 (N1523K)

Ref Sequence

ENSEMBL: ENSMUSP00000037628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043775] [ENSMUST00000225195]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043775
AA Change: N1523K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: N1523K

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

probably damaging
Transcript: ENSMUST00000225195
AA Change: N1323K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	T	C	18: 80,128,477	T906A	probably damaging	Het
Akap13	A	G	7: 75,697,393	S1731G	probably damaging	Het
Apbb2	A	G	5: 66,307,701	V650A	probably benign	Het
Appl1	A	G	14: 26,959,470		probably benign	Het
Avpr1b	T	G	1: 131,600,147	V136G	probably damaging	Het
B020004J07Rik	T	A	4: 101,837,004	R227S	possibly damaging	Het
C6	T	C	15: 4,781,896	F409L	probably benign	Het
Cdk20	A	G	13: 64,436,310		probably benign	Het
Cenpf	T	C	1: 189,653,184	K2300E	possibly damaging	Het
Cfap57	C	T	4: 118,600,796	R399Q	probably damaging	Het
Cnnm1	A	T	19: 43,471,936	S706C	probably benign	Het
Cr1l	T	C	1: 195,129,881	I45V	possibly damaging	Het
D130043K22Rik	A	T	13: 24,899,796	R1081S	probably damaging	Het
Ddx60	A	T	8: 61,963,740	H573L	probably null	Het
Eif5b	T	C	1: 38,045,706	L878S	probably damaging	Het
Ets1	T	C	9: 32,732,939		probably benign	Het
Evi5	A	G	5: 107,764,707	L696P	probably damaging	Het
Fbxo18	C	A	2: 11,757,523	E12*	probably null	Het
Gabpb1	C	A	2: 126,653,600	M77I	possibly damaging	Het
Glul	T	A	1: 153,906,476	N152K	probably benign	Het
Gm45234	T	C	6: 124,746,431	Y613C	probably damaging	Het
Gm5611	A	G	9: 17,030,351		noncoding transcript	Het
Gm6583	A	G	5: 112,355,830	S3P	possibly damaging	Het
Gpr156	T	A	16: 37,988,591	I225K	probably damaging	Het
Herc4	T	C	10: 63,290,682		probably benign	Het
Iqsec3	C	T	6: 121,410,621	V720M	probably damaging	Het
Itgam	A	T	7: 128,116,767	H1104L	possibly damaging	Het
Itgb3	T	A	11: 104,643,965	D549E	probably damaging	Het
Kctd7	A	T	5: 130,148,135	M76L	probably damaging	Het
Map3k12	T	A	15: 102,503,751	E318D	probably damaging	Het
Mc1r	T	C	8: 123,408,050	Y181H	probably damaging	Het
Mex3c	G	A	18: 73,573,632	A197T	unknown	Het
Mvk	A	G	5: 114,446,292	D71G	probably benign	Het
Ndufb3	T	A	1: 58,595,753	L88*	probably null	Het
Olfr476	A	G	7: 107,967,937	D180G	probably damaging	Het
Olfr684	A	G	7: 105,157,460	V74A	probably benign	Het
Pifo	G	T	3: 105,997,207		probably null	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Slc5a3	C	T	16: 92,079,112	Q686*	probably null	Het
Vmn2r75	T	C	7: 86,148,473	I711V	probably benign	Het
Vps13c	T	A	9: 67,955,781	H3026Q	probably benign	Het
Zfp354c	A	G	11: 50,817,905	S22P	possibly damaging	Het

Other mutations in Kdm3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Kdm3b	APN	18	34809409	missense	probably benign	0.03
IGL01357:Kdm3b	APN	18	34793014	missense	probably damaging	1.00
IGL01980:Kdm3b	APN	18	34834236	missense	probably damaging	1.00
IGL02277:Kdm3b	APN	18	34823664	missense	probably damaging	1.00
IGL02346:Kdm3b	APN	18	34834238	missense	probably damaging	1.00
IGL02417:Kdm3b	APN	18	34808577	missense	probably benign	0.03
IGL02531:Kdm3b	APN	18	34795729	missense	probably benign
IGL02589:Kdm3b	APN	18	34812418	missense	possibly damaging	0.89
IGL02793:Kdm3b	APN	18	34829019	missense	probably damaging	0.99
IGL03121:Kdm3b	APN	18	34795709	missense	probably damaging	0.98
IGL03123:Kdm3b	APN	18	34809491	critical splice donor site	probably null
IGL03128:Kdm3b	APN	18	34827427	missense	probably damaging	1.00
Endearing	UTSW	18	34827328	splice site	probably null
Oldtimer	UTSW	18	34823699	nonsense	probably null
PIT4382001:Kdm3b	UTSW	18	34809087	missense	probably damaging	1.00
PIT4445001:Kdm3b	UTSW	18	34793115	nonsense	probably null
R0068:Kdm3b	UTSW	18	34824774	missense	probably benign	0.18
R0068:Kdm3b	UTSW	18	34824774	missense	probably benign	0.18
R0233:Kdm3b	UTSW	18	34809420	missense	probably damaging	0.97
R0265:Kdm3b	UTSW	18	34795663	splice site	probably benign
R0306:Kdm3b	UTSW	18	34804017	missense	probably benign	0.35
R0941:Kdm3b	UTSW	18	34803552	missense	probably damaging	0.99
R0970:Kdm3b	UTSW	18	34809039	missense	probably damaging	1.00
R1061:Kdm3b	UTSW	18	34796862	missense	probably damaging	1.00
R1104:Kdm3b	UTSW	18	34819811	missense	probably damaging	1.00
R1221:Kdm3b	UTSW	18	34808245	missense	possibly damaging	0.57
R1486:Kdm3b	UTSW	18	34834304	missense	probably damaging	1.00
R1523:Kdm3b	UTSW	18	34793173	critical splice donor site	probably null
R1558:Kdm3b	UTSW	18	34809096	missense	probably damaging	1.00
R1585:Kdm3b	UTSW	18	34809292	missense	probably damaging	1.00
R1601:Kdm3b	UTSW	18	34808731	missense	probably damaging	1.00
R1650:Kdm3b	UTSW	18	34809115	missense	possibly damaging	0.93
R1772:Kdm3b	UTSW	18	34803504	missense	probably benign	0.01
R1853:Kdm3b	UTSW	18	34833393	missense	probably damaging	1.00
R1934:Kdm3b	UTSW	18	34813544	missense	probably benign	0.04
R1959:Kdm3b	UTSW	18	34812395	missense	possibly damaging	0.55
R2079:Kdm3b	UTSW	18	34803517	missense	probably damaging	1.00
R2102:Kdm3b	UTSW	18	34830147	missense	probably damaging	1.00
R2121:Kdm3b	UTSW	18	34796780	splice site	probably benign
R2281:Kdm3b	UTSW	18	34808419	missense	probably damaging	1.00
R3719:Kdm3b	UTSW	18	34808671	missense	probably damaging	1.00
R3755:Kdm3b	UTSW	18	34808296	missense	probably benign
R3857:Kdm3b	UTSW	18	34833387	missense	probably benign
R4165:Kdm3b	UTSW	18	34795744	missense	probably benign	0.01
R4166:Kdm3b	UTSW	18	34795744	missense	probably benign	0.01
R4372:Kdm3b	UTSW	18	34827444	missense	probably benign	0.00
R4672:Kdm3b	UTSW	18	34808577	missense	probably benign
R4933:Kdm3b	UTSW	18	34810393	missense	probably damaging	1.00
R4969:Kdm3b	UTSW	18	34822375	missense	probably damaging	1.00
R5009:Kdm3b	UTSW	18	34824710	missense	probably benign	0.42
R5059:Kdm3b	UTSW	18	34777197	missense	possibly damaging	0.83
R5092:Kdm3b	UTSW	18	34813462	missense	probably benign	0.16
R5270:Kdm3b	UTSW	18	34827414	missense	probably damaging	1.00
R5816:Kdm3b	UTSW	18	34828469	missense	probably damaging	0.99
R5970:Kdm3b	UTSW	18	34829289	missense	probably damaging	1.00
R6244:Kdm3b	UTSW	18	34793005	missense	probably damaging	1.00
R6705:Kdm3b	UTSW	18	34819873	missense	probably damaging	1.00
R6723:Kdm3b	UTSW	18	34793005	missense	probably damaging	0.99
R6909:Kdm3b	UTSW	18	34827328	splice site	probably null
R6958:Kdm3b	UTSW	18	34808283	missense	probably benign	0.00
R7026:Kdm3b	UTSW	18	34822464	missense	possibly damaging	0.90
R7289:Kdm3b	UTSW	18	34794504	missense	probably benign	0.00
R7488:Kdm3b	UTSW	18	34824881	missense	probably damaging	0.97
R7587:Kdm3b	UTSW	18	34797027	splice site	probably null
R7695:Kdm3b	UTSW	18	34794559	missense	possibly damaging	0.86
R7846:Kdm3b	UTSW	18	34809240	missense	possibly damaging	0.94
R7984:Kdm3b	UTSW	18	34823699	nonsense	probably null
R7997:Kdm3b	UTSW	18	34808283	missense	probably benign	0.00
R8035:Kdm3b	UTSW	18	34808728	missense	probably damaging	1.00
R8064:Kdm3b	UTSW	18	34813407	critical splice acceptor site	probably null
R8141:Kdm3b	UTSW	18	34828546	nonsense	probably null
R8302:Kdm3b	UTSW	18	34834335	missense	probably damaging	1.00
R8328:Kdm3b	UTSW	18	34793070	missense	probably damaging	1.00
R8443:Kdm3b	UTSW	18	34793076	missense	probably benign	0.04
R8513:Kdm3b	UTSW	18	34793076	missense	probably benign	0.04
R8515:Kdm3b	UTSW	18	34793076	missense	probably benign	0.04
R8523:Kdm3b	UTSW	18	34793076	missense	probably benign	0.04
R8717:Kdm3b	UTSW	18	34819787	missense	probably damaging	0.98
R8725:Kdm3b	UTSW	18	34827382	missense	probably damaging	1.00
R8727:Kdm3b	UTSW	18	34827382	missense	probably damaging	1.00
R8762:Kdm3b	UTSW	18	34804104	missense	probably benign
X0028:Kdm3b	UTSW	18	34799266	splice site	probably null
X0067:Kdm3b	UTSW	18	34823517	missense	probably benign	0.00
Z1176:Kdm3b	UTSW	18	34809069	nonsense	probably null

Posted On

2013-12-09