Mutagenetix > Incidental Mutation

Incidental Mutation 'R0311:Kdm4b'

25237

Institutional Source

Beutler Lab

Gene Symbol

Kdm4b

Ensembl Gene

ENSMUSG00000024201

Gene Name

lysine (K)-specific demethylase 4B

Synonyms

Jmjd2b, 4732474L06Rik

MMRRC Submission

038521-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0311 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

56326062-56402870 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56386200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 346 (R346G)

Ref Sequence

ENSEMBL: ENSMUSP00000084045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025036] [ENSMUST00000086835]

AlphaFold

Q91VY5

Predicted Effect

probably benign
Transcript: ENSMUST00000025036
AA Change: R346G

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: R346G

Domain	Start	End	E-Value	Type
JmjN	14	56	5.88e-17	SMART
low complexity region	61	68	N/A	INTRINSIC
JmjC	143	309	1.19e-59	SMART
low complexity region	349	361	N/A	INTRINSIC
low complexity region	380	399	N/A	INTRINSIC
low complexity region	443	449	N/A	INTRINSIC
low complexity region	481	495	N/A	INTRINSIC
low complexity region	511	537	N/A	INTRINSIC
PHD	719	777	2.5e-5	SMART
PHD	839	895	7.07e-5	SMART
TUDOR	905	962	1.68e-9	SMART
TUDOR	963	1019	7.94e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086835
AA Change: R346G

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: R346G

Domain	Start	End	E-Value	Type
JmjN	14	56	5.88e-17	SMART
low complexity region	61	68	N/A	INTRINSIC
JmjC	143	309	1.19e-59	SMART
low complexity region	349	361	N/A	INTRINSIC
low complexity region	380	399	N/A	INTRINSIC
low complexity region	443	449	N/A	INTRINSIC
low complexity region	481	495	N/A	INTRINSIC
low complexity region	511	537	N/A	INTRINSIC
PHD	712	770	2.5e-5	SMART
PHD	832	888	7.07e-5	SMART
TUDOR	898	954	2.31e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132363

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 91.6%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	C	7: 120,402,904	M1547L	probably damaging	Het
Abcb4	A	G	5: 8,934,243	K658E	probably benign	Het
Abr	A	G	11: 76,509,127	S15P	possibly damaging	Het
Adgrb2	G	C	4: 130,017,129	A1168P	probably damaging	Het
Adgre4	A	T	17: 55,802,010	E339V	probably benign	Het
Asprv1	T	C	6: 86,628,840	W223R	probably damaging	Het
Ccdc89	A	G	7: 90,426,693	E37G	probably damaging	Het
Cd48	C	A	1: 171,699,580	Y191*	probably null	Het
Chd4	T	C	6: 125,101,665	I257T	probably benign	Het
Clca4b	T	C	3: 144,932,496	M2V	probably benign	Het
Dnah11	A	T	12: 118,127,133	D1025E	probably benign	Het
Erich5	A	G	15: 34,472,939	*363W	probably null	Het
Etl4	A	G	2: 20,807,129	D1341G	probably damaging	Het
Fbxw11	A	G	11: 32,722,083	T184A	probably benign	Het
Fktn	A	G	4: 53,744,620	Q300R	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gdpd3	G	A	7: 126,767,189	R66Q	possibly damaging	Het
Hexb	A	G	13: 97,183,819		probably benign	Het
Mbtd1	T	A	11: 93,921,357		probably null	Het
Med23	T	A	10: 24,897,358	C653S	possibly damaging	Het
Nwd2	A	T	5: 63,804,998	I642L	probably damaging	Het
Olfr1444	A	G	19: 12,861,869	I31M	probably benign	Het
Olfr1448	T	A	19: 12,920,096	Y71F	possibly damaging	Het
Olfr912	T	C	9: 38,539,297	V134A	probably benign	Het
Pbld2	T	C	10: 63,054,507		probably null	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Plpp2	C	T	10: 79,527,580	R77K	probably damaging	Het
Pym1	G	T	10: 128,765,984	R168L	possibly damaging	Het
Rbm4	T	C	19: 4,787,556	Y300C	probably damaging	Het
Rnf207	A	G	4: 152,315,779	C175R	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Speg	T	C	1: 75,430,937	V3196A	probably damaging	Het
Syne1	T	A	10: 5,348,943	I1048L	possibly damaging	Het
Th	T	C	7: 142,896,041	E41G	probably damaging	Het
Tmx4	T	A	2: 134,598,526	*336L	probably null	Het
Tnfrsf18	T	C	4: 156,026,415	V10A	possibly damaging	Het
Tnxb	A	T	17: 34,716,984	I2670F	probably damaging	Het
Tpx2	T	C	2: 152,890,492	V562A	probably damaging	Het
Vmn2r73	A	G	7: 85,871,789	S324P	probably benign	Het
Vps18	T	C	2: 119,297,365	Y890H	probably benign	Het
Ythdc1	G	A	5: 86,835,705	D670N	probably damaging	Het

Other mutations in Kdm4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Kdm4b	APN	17	56353019	missense	probably benign	0.28
IGL01408:Kdm4b	APN	17	56353518	splice site	probably benign
IGL01610:Kdm4b	APN	17	56353522	splice site	probably benign
IGL01936:Kdm4b	APN	17	56397355	missense	probably damaging	1.00
IGL01964:Kdm4b	APN	17	56389256	splice site	probably null
IGL02151:Kdm4b	APN	17	56396234	missense	probably benign	0.05
IGL02596:Kdm4b	APN	17	56399706	missense	probably benign	0.14
IGL02975:Kdm4b	APN	17	56375996	splice site	probably null
IGL03172:Kdm4b	APN	17	56401649	missense	probably damaging	0.98
Coelestinum	UTSW	17	56353091	missense	probably benign	0.31
mistflower	UTSW	17	56389564	missense	possibly damaging	0.65
R0193:Kdm4b	UTSW	17	56393952	missense	probably benign	0.04
R0331:Kdm4b	UTSW	17	56386289	splice site	probably benign
R1109:Kdm4b	UTSW	17	56399430	missense	probably damaging	0.99
R1499:Kdm4b	UTSW	17	56400025	missense	probably damaging	1.00
R1895:Kdm4b	UTSW	17	56397340	missense	probably damaging	1.00
R1985:Kdm4b	UTSW	17	56401302	missense	probably damaging	1.00
R2087:Kdm4b	UTSW	17	56389564	missense	possibly damaging	0.65
R2185:Kdm4b	UTSW	17	56393750	missense	probably benign	0.00
R2904:Kdm4b	UTSW	17	56355884	missense	probably benign	0.03
R3792:Kdm4b	UTSW	17	56355944	missense	probably damaging	1.00
R3897:Kdm4b	UTSW	17	56396955	missense	probably damaging	1.00
R4661:Kdm4b	UTSW	17	56399459	missense	probably damaging	1.00
R4685:Kdm4b	UTSW	17	56401675	missense	probably benign	0.06
R4716:Kdm4b	UTSW	17	56386178	missense	probably benign	0.10
R4790:Kdm4b	UTSW	17	56401618	missense	probably damaging	0.97
R4864:Kdm4b	UTSW	17	56353091	missense	probably benign	0.31
R5700:Kdm4b	UTSW	17	56351700	missense	possibly damaging	0.93
R5963:Kdm4b	UTSW	17	56399732	missense	probably damaging	1.00
R6003:Kdm4b	UTSW	17	56396916	missense	probably damaging	1.00
R6029:Kdm4b	UTSW	17	56396576	missense	probably damaging	0.98
R6769:Kdm4b	UTSW	17	56351754	missense	possibly damaging	0.54
R6771:Kdm4b	UTSW	17	56351754	missense	possibly damaging	0.54
R6927:Kdm4b	UTSW	17	56399435	missense	probably damaging	1.00
R7041:Kdm4b	UTSW	17	56396592	missense	probably damaging	0.96
R7230:Kdm4b	UTSW	17	56369155	missense	probably damaging	1.00
R7275:Kdm4b	UTSW	17	56396333	missense	probably damaging	0.99
R7454:Kdm4b	UTSW	17	56389639	missense	probably benign	0.00
R7455:Kdm4b	UTSW	17	56396657	missense	probably damaging	0.98
R7457:Kdm4b	UTSW	17	56396319	missense	probably damaging	1.00
R8171:Kdm4b	UTSW	17	56389534	missense	probably damaging	0.99
R8367:Kdm4b	UTSW	17	56355875	missense	probably damaging	1.00
R8524:Kdm4b	UTSW	17	56399384	missense	probably damaging	1.00
R8810:Kdm4b	UTSW	17	56399771	missense	probably damaging	1.00
R9260:Kdm4b	UTSW	17	56394775	missense	probably benign
R9459:Kdm4b	UTSW	17	56399509	missense	probably benign	0.15
R9466:Kdm4b	UTSW	17	56389548	missense	probably benign	0.04
R9559:Kdm4b	UTSW	17	56386228	missense	probably damaging	1.00
X0024:Kdm4b	UTSW	17	56401278	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAATGATGCCATGTCCATCTTCCC -3'
(R):5'- AGCAGCAAGCATTCAGATGCCC -3'

Sequencing Primer
(F):5'- GGCCTGAACTAGCAGTCTCATC -3'
(R):5'- GGTCTGAGGCTCTGCCTG -3'

Posted On

2013-04-16