Mutagenetix > Incidental Mutations

Incidental Mutation 'R1061:Kdm3b'

94558

Institutional Source

Beutler Lab

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

JHDM2B, Jmjd1b, 5830462I21Rik

MMRRC Submission

039147-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R1061 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34777047-34838660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34796862 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 220 (V220M)

Ref Sequence

ENSEMBL: ENSMUSP00000153295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043775] [ENSMUST00000224715] [ENSMUST00000225195]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043775
AA Change: V220M

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

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: V220M

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 damaging
Transcript: ENSMUST00000224715
AA Change: V220M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225047

Predicted Effect

probably damaging
Transcript: ENSMUST00000225195
AA Change: V220M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225260

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,277,809	A715T	probably benign	Het
Ampd2	A	G	3: 108,075,689	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,398,191	V171E	probably damaging	Het
Arid4a	T	A	12: 71,074,955	S381R	probably damaging	Het
Armc8	T	G	9: 99,537,731	N51H	probably damaging	Het
Asic5	T	A	3: 82,021,001	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,164,069	K471*	probably null	Het
Birc6	A	G	17: 74,689,312	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,527,435	I139T	probably benign	Het
Ccdc114	T	C	7: 45,941,755	I218T	probably damaging	Het
Ccdc60	C	A	5: 116,172,468	R178S	possibly damaging	Het
Cd163	C	T	6: 124,309,169	A226V	probably benign	Het
Cog1	T	G	11: 113,652,037	S170A	probably benign	Het
Cwc15	T	C	9: 14,507,915	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,986,833	D333E	probably benign	Het
Ddc	C	T	11: 11,829,132	V331I	probably benign	Het
Dlc1	T	A	8: 36,858,051	T367S	probably benign	Het
Dnah17	T	C	11: 118,052,688	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,545,065	Y165*	probably null	Het
Eml6	T	C	11: 29,777,267	D1285G	probably damaging	Het
Fam92b	C	A	8: 120,169,704		probably null	Het
Fasn	T	C	11: 120,822,182		probably null	Het
Fbn1	T	C	2: 125,345,963	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713	Y384C	probably damaging	Het
Flvcr1	A	T	1: 191,008,173	V550E	probably benign	Het
Gcm2	A	G	13: 41,105,871	W41R	probably damaging	Het
Gli2	A	T	1: 118,854,517	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,150,307	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,204,155	S66T	probably benign	Het
Hsph1	A	T	5: 149,618,418	V781D	possibly damaging	Het
Klhl25	T	A	7: 75,866,520	Y391*	probably null	Het
Mc2r	A	T	18: 68,407,809	Y138N	probably damaging	Het
Mtap	C	A	4: 89,156,584	D106E	probably benign	Het
Nup43	G	T	10: 7,667,671	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,326,363	E197D	probably damaging	Het
Olfr1098	A	T	2: 86,922,782	V250D	possibly damaging	Het
Olfr484	T	C	7: 108,124,456	Y269C	probably damaging	Het
Olfr544	T	A	7: 102,484,114	*335C	probably null	Het
Olfr934	C	A	9: 38,982,483	C187F	probably damaging	Het
Pitrm1	A	G	13: 6,555,575	H186R	probably damaging	Het
Pklr	C	T	3: 89,144,881	R467C	probably damaging	Het
Plxna2	A	G	1: 194,644,093	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,508,614		probably null	Het
R3hcc1l	C	T	19: 42,583,426	R135*	probably null	Het
Ralyl	A	C	3: 14,115,701	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
S100a1	T	C	3: 90,511,312	N65S	probably damaging	Het
Scn11a	A	T	9: 119,795,663	M531K	probably damaging	Het
Slc5a5	T	A	8: 70,890,221	M232L	probably benign	Het
Tet3	A	T	6: 83,373,323	N1054K	probably damaging	Het
Tg	A	G	15: 66,698,559	N1427D	probably benign	Het
Tns1	A	C	1: 73,917,672	V530G	probably damaging	Het
Trcg1	C	A	9: 57,245,873	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,768,706	E40G	probably damaging	Het
Usp34	T	C	11: 23,384,420	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,061,644	T726I	probably benign	Het
Vmn2r97	A	T	17: 18,928,178	R112*	probably null	Het
Vwa2	G	T	19: 56,908,994	R577L	probably benign	Het
Vwa3b	A	C	1: 37,157,430	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,992,799		probably null	Het
Wrap53	A	G	11: 69,562,400	L405P	probably damaging	Het
Zfp629	C	A	7: 127,611,989	W216L	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGTCCTGGGTCCCATCATTCATC -3'
(R):5'- CTTCCTGTGGATTCTATGCTGAGGC -3'

Sequencing Primer
(F):5'- GACACATTCAGCTTAGTGGC -3'
(R):5'- gcctcgaactcagaaatccac -3'

Posted On

2014-01-05