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: 0.943) 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 (GRCm38)

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]

AlphaFold

no structure available at present

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
Affable	UTSW	18	34793005	missense	probably damaging	1.00
Dotage	UTSW	18	34827382	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
R8835:Kdm3b	UTSW	18	34808749	missense	probably damaging	1.00
R8918:Kdm3b	UTSW	18	34837597	missense	probably damaging	1.00
R9015:Kdm3b	UTSW	18	34830159	missense	probably damaging	1.00
R9144:Kdm3b	UTSW	18	34794505	missense	probably benign
R9246:Kdm3b	UTSW	18	34808427	nonsense	probably null
R9376:Kdm3b	UTSW	18	34837665	missense	probably damaging	0.99
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