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: 0.943) 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 (GRCm38)

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]

AlphaFold

no structure available at present

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
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
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

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