Mutagenetix > Incidental Mutation

Incidental Mutation 'R1985:Kdm4b'

220555

Institutional Source

Beutler Lab

Gene Symbol

Kdm4b

Ensembl Gene

ENSMUSG00000024201

Gene Name

lysine (K)-specific demethylase 4B

Synonyms

Jmjd2b, 4732474L06Rik

MMRRC Submission

039997-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1985 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

56633062-56709870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56708302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 957 (V957E)

Ref Sequence

ENSEMBL: ENSMUSP00000084045 (fasta)

Gene Model

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

AlphaFold

Q91VY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000025036
AA Change: V1022E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: V1022E

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 damaging
Transcript: ENSMUST00000086835
AA Change: V957E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: V957E

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

unknown
Transcript: ENSMUST00000141507
AA Change: V479E

SMART Domains

Protein: ENSMUSP00000116789
Gene: ENSMUSG00000024201
AA Change: V479E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (76/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	C	A	8: 71,916,157 (GRCm39)		probably benign	Het
Adam5	A	T	8: 25,236,755 (GRCm39)	D648E	probably benign	Het
Akr1d1	A	G	6: 37,535,336 (GRCm39)	D240G	probably damaging	Het
Ankmy2	A	G	12: 36,207,363 (GRCm39)	H3R	possibly damaging	Het
Anpep	A	C	7: 79,490,605 (GRCm39)		probably null	Het
Apobr	A	G	7: 126,186,903 (GRCm39)	T20A	possibly damaging	Het
Atp2a2	A	T	5: 122,604,899 (GRCm39)	Y427N	probably benign	Het
Camkk2	A	C	5: 122,902,190 (GRCm39)	S40A	possibly damaging	Het
Camp	T	C	9: 109,677,497 (GRCm39)	N112S	probably benign	Het
Cbx7	A	G	15: 79,802,591 (GRCm39)	S229P	probably damaging	Het
Cnot2	T	C	10: 116,363,781 (GRCm39)	N41S	probably damaging	Het
Dchs1	A	G	7: 105,421,605 (GRCm39)	F272L	possibly damaging	Het
Dct	T	C	14: 118,273,954 (GRCm39)	K318E	probably benign	Het
Dhrs11	A	C	11: 84,719,633 (GRCm39)	L31V	probably damaging	Het
Dnah7a	T	C	1: 53,543,093 (GRCm39)	D2359G	probably benign	Het
Dnajc7	A	G	11: 100,481,718 (GRCm39)	S305P	probably benign	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Flnc	A	G	6: 29,444,415 (GRCm39)		probably benign	Het
Garin3	T	C	11: 46,298,693 (GRCm39)	*666Q	probably null	Het
Gm7535	A	G	17: 18,131,800 (GRCm39)		probably benign	Het
Grtp1	A	G	8: 13,229,376 (GRCm39)	F313L	probably damaging	Het
Haus6	T	C	4: 86,511,846 (GRCm39)	Y425C	possibly damaging	Het
Hdac1	T	A	4: 129,422,753 (GRCm39)	N83Y	possibly damaging	Het
Hdlbp	A	G	1: 93,358,840 (GRCm39)	I237T	probably damaging	Het
Hfm1	A	T	5: 107,046,442 (GRCm39)	D481E	probably damaging	Het
Hipk3	T	C	2: 104,264,780 (GRCm39)	I737V	probably benign	Het
Il23r	T	A	6: 67,467,652 (GRCm39)		probably null	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Ints3	C	T	3: 90,307,610 (GRCm39)		probably null	Het
Kcna6	T	C	6: 126,715,473 (GRCm39)	E472G	probably benign	Het
Kcnj16	C	T	11: 110,916,409 (GRCm39)	T357M	probably benign	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Klhl11	G	T	11: 100,354,070 (GRCm39)	Q584K	probably benign	Het
Krt9	A	T	11: 100,080,817 (GRCm39)	M345K	probably benign	Het
Lgr5	T	C	10: 115,331,150 (GRCm39)		probably benign	Het
Lilrb4b	A	T	10: 51,357,831 (GRCm39)	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Ly9	A	G	1: 171,427,341 (GRCm39)	S405P	probably damaging	Het
Myh2	A	G	11: 67,071,740 (GRCm39)	D519G	possibly damaging	Het
Nav3	G	A	10: 109,606,045 (GRCm39)		probably benign	Het
Nfkb1	G	A	3: 135,321,110 (GRCm39)	T215I	possibly damaging	Het
Ninj2	A	T	6: 120,175,600 (GRCm39)		probably benign	Het
Obsl1	A	G	1: 75,482,244 (GRCm39)	C209R	probably damaging	Het
Or13a25	G	A	7: 140,247,734 (GRCm39)	C171Y	probably damaging	Het
Or2d4	A	G	7: 106,544,133 (GRCm39)	I25T	probably benign	Het
Or2j6	A	T	7: 139,980,713 (GRCm39)	M82K	possibly damaging	Het
Or2t44	A	C	11: 58,677,210 (GRCm39)	D50A	probably damaging	Het
Or2y1g	T	C	11: 49,171,110 (GRCm39)	I45T	probably damaging	Het
Or52z14	A	T	7: 103,252,879 (GRCm39)	Y6F	probably benign	Het
Otud4	G	C	8: 80,366,641 (GRCm39)	R36P	probably damaging	Het
Pcnt	C	T	10: 76,216,171 (GRCm39)	R2239H	possibly damaging	Het
Pgbd5	T	A	8: 125,097,331 (GRCm39)	M491L	probably benign	Het
Pitrm1	A	T	13: 6,608,220 (GRCm39)	D316V	probably damaging	Het
Plod3	A	G	5: 137,019,707 (GRCm39)		probably null	Het
Plppr3	A	T	10: 79,703,294 (GRCm39)	Y63*	probably null	Het
Pramel52-ps	A	T	5: 94,531,931 (GRCm39)	I272L	probably benign	Het
Prickle2	T	C	6: 92,388,433 (GRCm39)	D323G	probably damaging	Het
Psmd11	A	T	11: 80,336,089 (GRCm39)	I114F	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rbp3	T	G	14: 33,678,418 (GRCm39)	S789A	probably benign	Het
Rfxap	C	A	3: 54,714,747 (GRCm39)	R117L	probably damaging	Het
Rims2	T	A	15: 39,208,710 (GRCm39)	M171K	probably damaging	Het
Scin	A	G	12: 40,183,907 (GRCm39)		probably null	Het
Scn11a	A	G	9: 119,583,744 (GRCm39)	S1624P	probably benign	Het
Slc41a3	G	A	6: 90,619,210 (GRCm39)	V330M	probably damaging	Het
Slc9c1	A	G	16: 45,370,469 (GRCm39)	I237V	probably benign	Het
Spag6	A	G	2: 18,736,930 (GRCm39)	I218V	probably benign	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Tbc1d24	G	A	17: 24,426,938 (GRCm39)	R318*	probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Trpm3	T	A	19: 22,903,446 (GRCm39)	Y1069N	possibly damaging	Het
Tuba8	A	G	6: 121,197,479 (GRCm39)	D47G	probably benign	Het
Tulp3	A	T	6: 128,303,769 (GRCm39)	S277T	probably benign	Het
Uqcc6	T	A	10: 82,456,051 (GRCm39)	T37S	possibly damaging	Het
Wdr7	GTT	GT	18: 63,893,654 (GRCm39)		probably null	Het
Ybx2	A	G	11: 69,827,294 (GRCm39)		probably null	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp788	T	A	7: 41,299,905 (GRCm39)	I795N	probably damaging	Het

Other mutations in Kdm4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Kdm4b	APN	17	56,660,019 (GRCm39)	missense	probably benign	0.28
IGL01408:Kdm4b	APN	17	56,660,518 (GRCm39)	splice site	probably benign
IGL01610:Kdm4b	APN	17	56,660,522 (GRCm39)	splice site	probably benign
IGL01936:Kdm4b	APN	17	56,704,355 (GRCm39)	missense	probably damaging	1.00
IGL01964:Kdm4b	APN	17	56,696,256 (GRCm39)	splice site	probably null
IGL02151:Kdm4b	APN	17	56,703,234 (GRCm39)	missense	probably benign	0.05
IGL02596:Kdm4b	APN	17	56,706,706 (GRCm39)	missense	probably benign	0.14
IGL02975:Kdm4b	APN	17	56,682,996 (GRCm39)	splice site	probably null
IGL03172:Kdm4b	APN	17	56,708,649 (GRCm39)	missense	probably damaging	0.98
Coelestinum	UTSW	17	56,660,091 (GRCm39)	missense	probably benign	0.31
mistflower	UTSW	17	56,696,564 (GRCm39)	missense	possibly damaging	0.65
R0193:Kdm4b	UTSW	17	56,700,952 (GRCm39)	missense	probably benign	0.04
R0311:Kdm4b	UTSW	17	56,693,200 (GRCm39)	missense	probably benign	0.42
R0331:Kdm4b	UTSW	17	56,693,289 (GRCm39)	splice site	probably benign
R1109:Kdm4b	UTSW	17	56,706,430 (GRCm39)	missense	probably damaging	0.99
R1499:Kdm4b	UTSW	17	56,707,025 (GRCm39)	missense	probably damaging	1.00
R1895:Kdm4b	UTSW	17	56,704,340 (GRCm39)	missense	probably damaging	1.00
R2087:Kdm4b	UTSW	17	56,696,564 (GRCm39)	missense	possibly damaging	0.65
R2185:Kdm4b	UTSW	17	56,700,750 (GRCm39)	missense	probably benign	0.00
R2904:Kdm4b	UTSW	17	56,662,884 (GRCm39)	missense	probably benign	0.03
R3792:Kdm4b	UTSW	17	56,662,944 (GRCm39)	missense	probably damaging	1.00
R3897:Kdm4b	UTSW	17	56,703,955 (GRCm39)	missense	probably damaging	1.00
R4661:Kdm4b	UTSW	17	56,706,459 (GRCm39)	missense	probably damaging	1.00
R4685:Kdm4b	UTSW	17	56,708,675 (GRCm39)	missense	probably benign	0.06
R4716:Kdm4b	UTSW	17	56,693,178 (GRCm39)	missense	probably benign	0.10
R4790:Kdm4b	UTSW	17	56,708,618 (GRCm39)	missense	probably damaging	0.97
R4864:Kdm4b	UTSW	17	56,660,091 (GRCm39)	missense	probably benign	0.31
R5700:Kdm4b	UTSW	17	56,658,700 (GRCm39)	missense	possibly damaging	0.93
R5963:Kdm4b	UTSW	17	56,706,732 (GRCm39)	missense	probably damaging	1.00
R6003:Kdm4b	UTSW	17	56,703,916 (GRCm39)	missense	probably damaging	1.00
R6029:Kdm4b	UTSW	17	56,703,576 (GRCm39)	missense	probably damaging	0.98
R6769:Kdm4b	UTSW	17	56,658,754 (GRCm39)	missense	possibly damaging	0.54
R6771:Kdm4b	UTSW	17	56,658,754 (GRCm39)	missense	possibly damaging	0.54
R6927:Kdm4b	UTSW	17	56,706,435 (GRCm39)	missense	probably damaging	1.00
R7041:Kdm4b	UTSW	17	56,703,592 (GRCm39)	missense	probably damaging	0.96
R7230:Kdm4b	UTSW	17	56,676,155 (GRCm39)	missense	probably damaging	1.00
R7275:Kdm4b	UTSW	17	56,703,333 (GRCm39)	missense	probably damaging	0.99
R7454:Kdm4b	UTSW	17	56,696,639 (GRCm39)	missense	probably benign	0.00
R7455:Kdm4b	UTSW	17	56,703,657 (GRCm39)	missense	probably damaging	0.98
R7457:Kdm4b	UTSW	17	56,703,319 (GRCm39)	missense	probably damaging	1.00
R8171:Kdm4b	UTSW	17	56,696,534 (GRCm39)	missense	probably damaging	0.99
R8367:Kdm4b	UTSW	17	56,662,875 (GRCm39)	missense	probably damaging	1.00
R8524:Kdm4b	UTSW	17	56,706,384 (GRCm39)	missense	probably damaging	1.00
R8810:Kdm4b	UTSW	17	56,706,771 (GRCm39)	missense	probably damaging	1.00
R9260:Kdm4b	UTSW	17	56,701,775 (GRCm39)	missense	probably benign
R9459:Kdm4b	UTSW	17	56,706,509 (GRCm39)	missense	probably benign	0.15
R9466:Kdm4b	UTSW	17	56,696,548 (GRCm39)	missense	probably benign	0.04
R9559:Kdm4b	UTSW	17	56,693,228 (GRCm39)	missense	probably damaging	1.00
X0024:Kdm4b	UTSW	17	56,708,278 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGGCTTTTCACCCTAGAGG -3'
(R):5'- AGGTTGTCTCCCTGGCAAAG -3'

Sequencing Primer
(F):5'- TTTTCACCCTAGAGGCTGCAGG -3'
(R):5'- TGACTCACACCCAGGGG -3'

Posted On

2014-08-25