Mutagenetix > Incidental Mutation

Incidental Mutation 'R8810:Kdm4b'

672387

Institutional Source

Beutler Lab

Gene Symbol

Kdm4b

Ensembl Gene

ENSMUSG00000024201

Gene Name

lysine (K)-specific demethylase 4B

Synonyms

Jmjd2b, 4732474L06Rik

MMRRC Submission

068725-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56633062-56709870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56706771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 928 (I928F)

Ref Sequence

ENSEMBL: ENSMUSP00000025036 (fasta)

Gene Model

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

AlphaFold

Q91VY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000025036
AA Change: I928F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: I928F

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: I921F

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

SMART Domains

Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: I921F

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: I385F

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: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

99% (82/83)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,749,452 (GRCm39)	S1408P	probably damaging	Het
Acap3	T	C	4: 155,990,169 (GRCm39)	V783A	probably damaging	Het
Akap8	T	C	17: 32,525,504 (GRCm39)	N525S	probably damaging	Het
Aqp1	C	T	6: 55,313,606 (GRCm39)	T44M	probably damaging	Het
Arap1	T	C	7: 101,053,585 (GRCm39)	Y1305H	probably damaging	Het
Atg2a	T	G	19: 6,300,651 (GRCm39)	S743A	probably benign	Het
AW551984	G	T	9: 39,511,307 (GRCm39)	L133I	probably damaging	Het
Bahcc1	C	A	11: 120,164,587 (GRCm39)	P802T	possibly damaging	Het
Brd8	C	A	18: 34,743,002 (GRCm39)	V288L	probably benign	Het
Carmil2	T	C	8: 106,412,947 (GRCm39)		probably null	Het
Catspere2	G	A	1: 177,905,048 (GRCm39)	E153K	possibly damaging	Het
Ccdc162	C	T	10: 41,542,737 (GRCm39)	R379Q	probably benign	Het
Cd200l1	T	C	16: 45,264,199 (GRCm39)	T120A	probably benign	Het
Cdh16	A	G	8: 105,341,136 (GRCm39)	L116P	probably damaging	Het
Cenpj	A	T	14: 56,796,076 (GRCm39)	H260Q	possibly damaging	Het
Cenpq	A	G	17: 41,244,027 (GRCm39)	V17A	possibly damaging	Het
Cep350	T	C	1: 155,803,862 (GRCm39)	K1074E	probably damaging	Het
Chil4	C	A	3: 106,109,121 (GRCm39)	C394F	probably damaging	Het
Chst9	T	C	18: 15,850,983 (GRCm39)	I28V	probably benign	Het
Clasp2	C	A	9: 113,728,649 (GRCm39)	N873K	probably damaging	Het
Clec4b2	T	A	6: 123,158,269 (GRCm39)	M45K	probably benign	Het
Cmya5	T	A	13: 93,200,048 (GRCm39)	T3427S	possibly damaging	Het
Cnih4	A	G	1: 180,989,777 (GRCm39)	Y130C	probably damaging	Het
Cpne9	T	A	6: 113,281,506 (GRCm39)	M529K	probably damaging	Het
Crppa	A	T	12: 36,440,481 (GRCm39)	N130Y	probably damaging	Het
Ctsr	T	A	13: 61,309,639 (GRCm39)	Y190F	probably damaging	Het
Cyp2j13	G	A	4: 95,945,153 (GRCm39)	H351Y	probably benign	Het
Dixdc1	T	A	9: 50,613,265 (GRCm39)	Q230L	probably damaging	Het
Dpep1	A	T	8: 123,926,764 (GRCm39)	I226F	probably benign	Het
Efcab3	A	T	11: 104,805,721 (GRCm39)	N3076I	unknown	Het
Ehd2	A	G	7: 15,691,603 (GRCm39)	V243A	probably benign	Het
Etnk2	T	A	1: 133,306,232 (GRCm39)	Y353N	probably benign	Het
Fgg	G	T	3: 82,920,322 (GRCm39)	G367V	probably damaging	Het
Gm9772	T	C	17: 22,225,310 (GRCm39)	*61Q	probably null	Het
Grk5	T	G	19: 61,078,432 (GRCm39)	D496E	possibly damaging	Het
Hc	T	C	2: 34,909,535 (GRCm39)	N915S	probably benign	Het
Iah1	G	T	12: 21,367,388 (GRCm39)	Q31H	probably benign	Het
Insr	T	C	8: 3,219,714 (GRCm39)	D936G	probably benign	Het
Ints6	A	C	14: 62,939,902 (GRCm39)	V596G	probably benign	Het
Kcnj16	A	G	11: 110,915,677 (GRCm39)	D113G	possibly damaging	Het
Lrrc41	C	T	4: 115,932,488 (GRCm39)		probably benign	Het
Lrrc8e	G	A	8: 4,285,070 (GRCm39)	V432I	probably benign	Het
Mamdc4	T	C	2: 25,458,501 (GRCm39)	E336G	probably benign	Het
Maml2	C	A	9: 13,532,918 (GRCm39)	Q711K		Het
Map3k14	T	C	11: 103,118,498 (GRCm39)	T563A	possibly damaging	Het
Mcu	T	A	10: 59,303,535 (GRCm39)	K101*	probably null	Het
Mettl22	T	A	16: 8,303,792 (GRCm39)	V286E	probably damaging	Het
Mon2	A	T	10: 122,845,516 (GRCm39)	N1396K	possibly damaging	Het
Mprip	T	C	11: 59,587,851 (GRCm39)		probably benign	Het
Mrpl51	C	T	6: 125,170,344 (GRCm39)	L117F	probably damaging	Het
Myo1d	C	A	11: 80,565,758 (GRCm39)	V356F	probably damaging	Het
Myo1d	T	A	11: 80,567,758 (GRCm39)	I241F	probably benign	Het
Naalad2	A	T	9: 18,297,230 (GRCm39)		probably benign	Het
Nacad	T	C	11: 6,552,853 (GRCm39)	T113A	probably benign	Het
Nrap	T	A	19: 56,352,843 (GRCm39)		probably benign	Het
Or10b1	G	A	10: 78,356,284 (GRCm39)	V281M	possibly damaging	Het
Or2z2	T	C	11: 58,345,936 (GRCm39)	T280A	possibly damaging	Het
Or56b2	T	A	7: 104,337,387 (GRCm39)	I55N	probably damaging	Het
Or5ae1	T	A	7: 84,565,626 (GRCm39)	I213N	possibly damaging	Het
Or5w1	T	C	2: 87,486,591 (GRCm39)	I225V	possibly damaging	Het
Or6z3	T	C	7: 6,463,763 (GRCm39)	L85P	probably damaging	Het
Osbpl3	T	C	6: 50,328,852 (GRCm39)	D117G	probably damaging	Het
Parp9	C	T	16: 35,773,981 (GRCm39)	R318*	probably null	Het
Pcdhb18	A	G	18: 37,623,374 (GRCm39)	I235V	probably benign	Het
Pex16	T	G	2: 92,209,366 (GRCm39)		probably benign	Het
Piezo2	T	A	18: 63,248,034 (GRCm39)	M489L	probably benign	Het
Pmepa1	C	A	2: 173,069,628 (GRCm39)	G271V	probably damaging	Het
Safb	A	G	17: 56,910,579 (GRCm39)	E659G	unknown	Het
Scn9a	T	C	2: 66,332,010 (GRCm39)	T1289A	probably damaging	Het
Secisbp2l	T	C	2: 125,617,596 (GRCm39)	D27G	possibly damaging	Het
Serpina1f	A	G	12: 103,660,240 (GRCm39)	V14A	probably benign	Het
Serpinb9b	C	A	13: 33,213,452 (GRCm39)	T3N	possibly damaging	Het
Sfxn5	C	T	6: 85,206,182 (GRCm39)	M315I	probably benign	Het
Slc9b2	A	G	3: 135,035,530 (GRCm39)	D333G	probably benign	Het
Sostdc1	A	G	12: 36,367,229 (GRCm39)	N135S	possibly damaging	Het
Spg11	T	G	2: 121,901,425 (GRCm39)	D1505A	probably damaging	Het
Spmip8	A	T	8: 96,047,883 (GRCm39)		probably benign	Het
Taar7a	T	C	10: 23,869,279 (GRCm39)	N34S	probably benign	Het
Tcerg1l	C	A	7: 137,811,526 (GRCm39)	R556L	possibly damaging	Het
Tcp11l1	T	C	2: 104,518,763 (GRCm39)	K311R	probably benign	Het
Trbv16	T	G	6: 41,128,972 (GRCm39)	F52C	probably damaging	Het
Ttn	T	A	2: 76,726,016 (GRCm39)	R6073S	unknown	Het
Uba1y	T	C	Y: 828,818 (GRCm39)	I542T	possibly damaging	Het
Vmn1r214	T	C	13: 23,219,082 (GRCm39)	I192T	probably benign	Het
Vmn2r67	C	T	7: 84,786,346 (GRCm39)	C553Y	probably damaging	Het
Zdhhc17	G	T	10: 110,784,121 (GRCm39)	H452N	possibly 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
R1985:Kdm4b	UTSW	17	56,708,302 (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
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'- TGTCCATCACCTGCCTCAAG -3'
(R):5'- TTACCGTCTGTCCACCGAAG -3'

Sequencing Primer
(F):5'- TAAGTGCAGTGGCCAGAGC -3'
(R):5'- CTGCTCTACAGGGAGGGAATG -3'

Posted On

2021-04-30