Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Kdm4b'

714780

Institutional Source

Beutler Lab

Gene Symbol

Kdm4b

Ensembl Gene

ENSMUSG00000024201

Gene Name

lysine (K)-specific demethylase 4B

Synonyms

Jmjd2b, 4732474L06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56326062-56402870 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56399509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 881 (D881E)

Ref Sequence

ENSEMBL: ENSMUSP00000025036 (fasta)

Gene Model

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

AlphaFold

Q91VY5

Predicted Effect

probably benign
Transcript: ENSMUST00000025036
AA Change: D881E

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: D881E

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: D874E

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: D874E

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

SMART Domains

Protein: ENSMUSP00000116789
Gene: ENSMUSG00000024201
AA Change: D338E

Domain	Start	End	E-Value	Type
PHD	177	235	2.5e-5	SMART
PHD	297	353	7.07e-5	SMART
TUDOR	363	420	1.68e-9	SMART
TUDOR	421	477	7.94e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,729	H8L	probably benign	Het
Abcb1a	T	A	5: 8,685,414		probably null	Het
Alms1	T	A	6: 85,627,964	C2199S	probably damaging	Het
Aox3	A	G	1: 58,150,309	I390V	probably benign	Het
Ap3b2	T	C	7: 81,473,903	N400S	probably benign	Het
Baalc	A	T	15: 38,934,024	N70I	probably benign	Het
Brca2	T	A	5: 150,540,629	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,377,273	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,135,610	S15P	probably benign	Het
Chrnb3	G	A	8: 27,393,856	W207*	probably null	Het
Cmpk2	C	T	12: 26,478,023	T413M	probably damaging	Het
Coq4	T	A	2: 29,788,550	Y63N	probably damaging	Het
Depdc5	T	A	5: 32,990,773	S1478T	probably damaging	Het
Etf1	A	G	18: 34,906,081	F378L	probably benign	Het
Exoc6	T	C	19: 37,585,893	V324A	probably benign	Het
Frem2	A	G	3: 53,653,486	L1200P	probably benign	Het
Gadl1	T	C	9: 115,965,611	W285R	probably damaging	Het
Gbp3	A	G	3: 142,564,946		probably null	Het
Gm14295	C	T	2: 176,807,372	T5I	possibly damaging	Het
Hps4	T	C	5: 112,375,009	S578P	probably benign	Het
Kctd13	T	A	7: 126,945,082	D317E	probably damaging	Het
Klf10	G	A	15: 38,295,927	P473L	probably damaging	Het
Lrch3	A	T	16: 32,979,405	D371V	probably damaging	Het
Msh2	T	C	17: 87,678,330	S112P	possibly damaging	Het
Msh3	A	G	13: 92,215,539	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,676,259	V392A	possibly damaging	Het
Myo7a	T	C	7: 98,073,173	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,803,793	E442A	probably benign	Het
Obsl1	G	T	1: 75,498,240	H839N	probably benign	Het
Olfr1202	T	C	2: 88,817,623	F151L	probably benign	Het
Olfr1505	T	C	19: 13,919,310	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,145,070		probably null	Het
Pcdh17	G	T	14: 84,448,623	E843D	probably benign	Het
Pcnt	A	G	10: 76,392,738	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,192,468	D973G	probably damaging	Het
Pkd2	A	G	5: 104,466,934	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,322,638	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,907,577	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,641,788		probably null	Het
Ryr1	G	A	7: 29,068,643	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,605,790	K192*	probably null	Het
Slfn14	T	G	11: 83,279,372	Q482P	possibly damaging	Het
Spata2	A	G	2: 167,485,285	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,729,329	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,235,820	S142A	possibly damaging	Het
Tdrd9	T	C	12: 112,025,573	F594S	probably damaging	Het
Uba3	T	C	6: 97,189,598	I281V	probably benign	Het
Uggt2	T	C	14: 119,049,183	E723G	probably benign	Het
Usp20	C	T	2: 31,011,012	S391F	probably damaging	Het
Usp24	T	A	4: 106,342,358	D166E	probably damaging	Het
Vmn1r1	A	G	1: 182,157,938	V54A	probably benign	Het
Zfp442	T	A	2: 150,408,748	E411D	unknown	Het
Zfp804a	T	C	2: 82,259,409	I1194T	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
R0311:Kdm4b	UTSW	17	56386200	missense	probably benign	0.42
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
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'- GAAGGTTCCTCTCTGGCTTTGC -3'
(R):5'- TTGGTGATGACGATCTGGCC -3'

Sequencing Primer
(F):5'- TCTGGCTTTGCTGGTAACC -3'
(R):5'- ATGACGATCTGGCCCAGGG -3'

Posted On

2022-06-15