Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02589:Kdm3b'

299655

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: 0.945) question?

Stock #

IGL02589

Quality Score

Status

Chromosome

Chromosomal Location

34777047-34838660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34812418 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 761 (S761G)

Ref Sequence

ENSEMBL: ENSMUSP00000153446 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043775
AA Change: S961G

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: S961G

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: ENSMUST00000224065

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225195
AA Change: S761G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410015M20Rik	T	C	17: 56,608,856	E66G	probably benign	Het
5430403G16Rik	T	A	5: 109,678,520	H62L	possibly damaging	Het
A2ml1	T	G	6: 128,581,500	I5L	probably benign	Het
Ang6	A	G	14: 44,001,962	I103T	possibly damaging	Het
Arhgdib	A	G	6: 136,933,578		probably benign	Het
Atp13a2	C	T	4: 141,006,411	T1037M	probably damaging	Het
Bptf	T	C	11: 107,111,531	N252D	possibly damaging	Het
Capn2	T	C	1: 182,484,348	Y387C	probably damaging	Het
Cdc27	T	G	11: 104,505,644	D817A	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cntnap3	T	G	13: 64,792,430	I318L	probably benign	Het
Cog6	A	T	3: 53,007,270	L255Q	probably damaging	Het
Ect2l	T	A	10: 18,140,594		probably benign	Het
Ercc5	T	C	1: 44,164,049	V282A	probably damaging	Het
Fras1	A	G	5: 96,769,513	D3464G	probably damaging	Het
Gabrg1	A	T	5: 70,842,152	L18*	probably null	Het
Ggcx	T	C	6: 72,429,148	Y586H	probably damaging	Het
Gm5796	A	T	14: 4,033,828	K24*	probably null	Het
Gnb4	C	T	3: 32,589,849	V187M	probably damaging	Het
Gpt2	C	T	8: 85,516,166	Q276*	probably null	Het
Idnk	G	T	13: 58,163,425		probably benign	Het
Igkv3-9	A	G	6: 70,588,699	D94G	possibly damaging	Het
Ipo8	C	A	6: 148,809,907	L294F	probably damaging	Het
Itgad	A	T	7: 128,181,711	D157V	probably damaging	Het
Kcnab3	A	T	11: 69,332,102	I392L	probably benign	Het
Kif21a	G	A	15: 90,985,286	T454M	probably damaging	Het
Lta4h	A	G	10: 93,474,931	N441S	probably benign	Het
Man2a1	A	G	17: 64,679,778	E595G	probably benign	Het
Mvd	T	C	8: 122,438,034		probably benign	Het
Notch2	A	G	3: 98,104,347		probably null	Het
Phf20l1	G	T	15: 66,615,632		probably benign	Het
Rdm1	A	G	11: 101,628,005	S13G	possibly damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Scn4a	G	T	11: 106,328,132	D953E	probably benign	Het
Sh2b1	A	G	7: 126,469,268	I457T	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tagap	C	A	17: 7,933,672	T563K	possibly damaging	Het
Ugt1a7c	T	C	1: 88,095,638	I173T	probably benign	Het
Unc79	C	T	12: 103,173,496	A2370V	probably damaging	Het
Vmn2r102	T	A	17: 19,681,218	C536S	probably damaging	Het
Vmn2r53	G	A	7: 12,581,945	T649I	possibly damaging	Het
Whrn	G	A	4: 63,418,097	Q301*	probably null	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably 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
IGL01615:Kdm3b	APN	18	34829231	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
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
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

2015-04-16