Mutagenetix > Incidental Mutations

Incidental Mutation 'R0052:Kdm1b'

33064

Institutional Source

Beutler Lab

Gene Symbol

Kdm1b

Ensembl Gene

ENSMUSG00000038080

Gene Name

lysine (K)-specific demethylase 1B

Synonyms

4632428N09Rik, Aof1

MMRRC Submission

038346-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.491) question?

Stock #

R0052 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47043499-47085279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47064117 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 351 (C351S)

Ref Sequence

ENSEMBL: ENSMUSP00000038373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037025]

Predicted Effect

probably damaging
Transcript: ENSMUST00000037025
AA Change: C351S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038373
Gene: ENSMUSG00000038080
AA Change: C351S

Domain	Start	End	E-Value	Type
Pfam:zf-CW	138	191	2.6e-13	PFAM
low complexity region	235	253	N/A	INTRINSIC
Pfam:SWIRM	286	369	6e-12	PFAM
Pfam:Pyr_redox_2	368	490	3.1e-8	PFAM
Pfam:Thi4	375	446	2.2e-10	PFAM
Pfam:FAD_binding_3	388	423	4.1e-7	PFAM
Pfam:HI0933_like	389	428	1.6e-7	PFAM
Pfam:FAD_binding_2	390	428	1.6e-6	PFAM
Pfam:Pyr_redox	390	438	8e-8	PFAM
Pfam:NAD_binding_8	393	460	1.6e-13	PFAM
Pfam:Amino_oxidase	398	824	3.7e-86	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131120

Predicted Effect

unknown
Transcript: ENSMUST00000143518
AA Change: C67S

SMART Domains

Protein: ENSMUSP00000114999
Gene: ENSMUSG00000038080
AA Change: C67S

Domain	Start	End	E-Value	Type
Pfam:SWIRM	3	86	1.1e-12	PFAM
Pfam:Thi4	91	163	3.5e-10	PFAM
Pfam:FAD_binding_3	105	140	3.5e-7	PFAM
Pfam:HI0933_like	106	145	1.7e-7	PFAM
Pfam:Pyr_redox_2	106	251	1.5e-10	PFAM
Pfam:FAD_binding_2	107	150	5.7e-7	PFAM
Pfam:Pyr_redox	107	158	6.4e-8	PFAM
Pfam:Pyr_redox_3	109	288	1.2e-13	PFAM
Pfam:NAD_binding_8	110	177	2.3e-13	PFAM
Pfam:Amino_oxidase	115	181	8.6e-19	PFAM
Pfam:Amino_oxidase	178	441	4.5e-63	PFAM

Meta Mutation Damage Score

0.6513

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.2%

Validation Efficiency

97% (65/67)

MGI Phenotype

PHENOTYPE: Homozygous null mice of both sexes are viable, grossly normal and male mice are fertile; however, heterozygous progeny of homozygous null mothers display severe placental defects, embryonic growth impairment, neural tube defects and pericardial edema, and do not survive past E10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,915,951	S438P	possibly damaging	Het
Atp2a1	A	G	7: 126,457,897		probably benign	Het
Axin2	T	C	11: 108,949,270	Y735H	probably damaging	Het
Bicd2	T	A	13: 49,375,314	L184Q	probably damaging	Het
Bub1	G	A	2: 127,809,039	T618I	probably benign	Het
Catsperg2	A	G	7: 29,725,020		probably benign	Het
Ccdc73	T	A	2: 104,929,570		probably benign	Het
Crybg3	A	T	16: 59,565,656		probably benign	Het
Dsp	A	G	13: 38,197,364	D2096G	possibly damaging	Het
Eef2	C	CN	10: 81,178,768		probably null	Het
Elp3	A	G	14: 65,531,526	*548Q	probably null	Het
Eno4	A	G	19: 58,968,553	D357G	probably damaging	Het
Fam214a	A	G	9: 75,018,983		probably benign	Het
Fcrls	A	T	3: 87,256,778	I348N	possibly damaging	Het
Fgl2	A	T	5: 21,375,349	S230C	probably damaging	Het
Ginm1	T	A	10: 7,779,306	E57D	possibly damaging	Het
Gtf3c1	A	T	7: 125,667,971		probably null	Het
Herc1	G	T	9: 66,400,156	G1044V	probably damaging	Het
Hmcn1	G	A	1: 150,677,406	T2511M	probably damaging	Het
Iba57	C	T	11: 59,158,901	A207T	probably benign	Het
Itga9	T	A	9: 118,636,549	I157N	probably damaging	Het
Kalrn	A	G	16: 34,357,171	L208P	probably damaging	Het
Kcnj10	A	G	1: 172,368,924	T2A	probably benign	Het
Kif21a	T	C	15: 90,970,857	E700G	probably damaging	Het
Mmd	C	T	11: 90,259,998		probably benign	Het
Mocs3	C	T	2: 168,231,682	P350S	probably benign	Het
Morn3	T	C	5: 123,046,663	Y38C	probably damaging	Het
Nacc1	A	T	8: 84,676,225	V313D	probably benign	Het
Nbeal1	T	A	1: 60,228,612		probably benign	Het
Neb	T	C	2: 52,273,980	K1989E	possibly damaging	Het
Nlrp3	C	T	11: 59,565,128	R917*	probably null	Het
Nlrp4b	T	A	7: 10,725,962	Y463*	probably null	Het
Perm1	A	T	4: 156,218,115	D372V	probably damaging	Het
Phf3	T	C	1: 30,808,767	T1232A	probably damaging	Het
Phldb3	G	A	7: 24,612,579	R106Q	probably benign	Het
Pld4	T	A	12: 112,767,857	F386I	probably benign	Het
Prex2	T	A	1: 11,160,156	L802Q	probably damaging	Het
Psd3	A	G	8: 67,882,979		probably null	Het
Ralgds	T	A	2: 28,544,388		probably null	Het
Rmdn2	A	G	17: 79,650,331	E16G	probably damaging	Het
Rnf111	A	T	9: 70,476,389	S87R	probably benign	Het
Slc4a4	A	C	5: 89,156,336	H502P	possibly damaging	Het
Slc9c1	A	G	16: 45,606,856		probably benign	Het
Slco3a1	A	T	7: 74,504,326	I166N	probably benign	Het
Snx5	A	T	2: 144,259,192		probably null	Het
Srgap1	T	C	10: 121,800,827	D741G	possibly damaging	Het
St8sia2	G	T	7: 73,943,290	Y339*	probably null	Het
St8sia2	A	T	7: 73,971,952	W86R	probably damaging	Het
Stk33	A	G	7: 109,279,669	L491P	possibly damaging	Het
Sult2a7	T	C	7: 14,465,208	Y298C	probably damaging	Het
Tdo2	T	A	3: 81,967,025	N210I	probably benign	Het
Thada	A	T	17: 84,455,158	N104K	probably damaging	Het
Timm8b	A	T	9: 50,605,030	D61V	possibly damaging	Het
Tshz1	G	A	18: 84,014,945	T446I	possibly damaging	Het
Ubap2l	T	C	3: 90,038,928	N123S	possibly damaging	Het
Vmn1r48	T	C	6: 90,036,264	E193G	possibly damaging	Het
Vmn1r69	C	T	7: 10,580,400	V135I	probably benign	Het
Vmn2r103	G	T	17: 19,811,641	G559V	probably benign	Het
Vmn2r26	T	A	6: 124,062,033	*856R	probably null	Het
Vmn2r88	A	G	14: 51,418,700	I798V	possibly damaging	Het
Vsir	C	T	10: 60,358,082	A108V	probably benign	Het
Zfp14	G	T	7: 30,038,328	Q411K	probably damaging	Het
Zfp236	A	T	18: 82,639,332	M762K	probably damaging	Het
Zfp462	G	A	4: 55,011,762	G1243S	probably benign	Het

Other mutations in Kdm1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Kdm1b	APN	13	47068540	missense	probably benign	0.01
IGL00924:Kdm1b	APN	13	47068480	missense	probably benign
IGL01553:Kdm1b	APN	13	47080548	missense	probably damaging	0.96
IGL01663:Kdm1b	APN	13	47073737	missense	probably damaging	0.99
IGL02385:Kdm1b	APN	13	47068506	missense	possibly damaging	0.49
IGL02505:Kdm1b	APN	13	47060855	missense	probably damaging	1.00
IGL02826:Kdm1b	APN	13	47080467	missense	probably damaging	1.00
IGL03257:Kdm1b	APN	13	47049266	missense	probably damaging	1.00
R0319:Kdm1b	UTSW	13	47053719	missense	probably benign
R0426:Kdm1b	UTSW	13	47064244	splice site	probably benign
R0599:Kdm1b	UTSW	13	47058810	missense	possibly damaging	0.47
R0764:Kdm1b	UTSW	13	47068603	missense	possibly damaging	0.70
R1163:Kdm1b	UTSW	13	47071922	missense	probably benign	0.02
R1543:Kdm1b	UTSW	13	47068521	missense	probably damaging	0.99
R1584:Kdm1b	UTSW	13	47064054	missense	probably damaging	1.00
R1627:Kdm1b	UTSW	13	47064231	critical splice donor site	probably null
R1669:Kdm1b	UTSW	13	47068548	missense	probably damaging	1.00
R1758:Kdm1b	UTSW	13	47060768	missense	probably benign	0.00
R1860:Kdm1b	UTSW	13	47049190	missense	probably benign	0.03
R1907:Kdm1b	UTSW	13	47064120	missense	probably benign	0.00
R2225:Kdm1b	UTSW	13	47064088	frame shift	probably null
R2239:Kdm1b	UTSW	13	47073755	missense	probably damaging	1.00
R2271:Kdm1b	UTSW	13	47064088	frame shift	probably null
R2302:Kdm1b	UTSW	13	47064088	frame shift	probably null
R2303:Kdm1b	UTSW	13	47064088	frame shift	probably null
R2380:Kdm1b	UTSW	13	47073755	missense	probably damaging	1.00
R2442:Kdm1b	UTSW	13	47062975	missense	probably benign	0.32
R3022:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R3054:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R3545:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R3546:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R3548:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R4094:Kdm1b	UTSW	13	47063020	missense	probably damaging	1.00
R4419:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R4420:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R4502:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R4547:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R4548:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R4785:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R4793:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R4804:Kdm1b	UTSW	13	47063077	missense	probably damaging	1.00
R4882:Kdm1b	UTSW	13	47060893	missense	probably benign
R4906:Kdm1b	UTSW	13	47063144	critical splice donor site	probably null
R4965:Kdm1b	UTSW	13	47074367	missense	probably damaging	0.98
R5039:Kdm1b	UTSW	13	47077486	missense	probably damaging	1.00
R5098:Kdm1b	UTSW	13	47062991	missense	probably damaging	1.00
R5265:Kdm1b	UTSW	13	47062969	missense	probably benign	0.35
R5541:Kdm1b	UTSW	13	47079196	missense	probably damaging	1.00
R5814:Kdm1b	UTSW	13	47063146	splice site	probably null
R6046:Kdm1b	UTSW	13	47079253	missense	possibly damaging	0.92
R6798:Kdm1b	UTSW	13	47068536	missense	probably benign	0.00
R6903:Kdm1b	UTSW	13	47074404	missense	probably benign	0.00
R7831:Kdm1b	UTSW	13	47050622	missense	probably benign	0.17
R7914:Kdm1b	UTSW	13	47050622	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AGCCACGGTGACTAACTAGCAGA -3'
(R):5'- CCAAAGGCAGAGCCTACCGC -3'

Sequencing Primer
(F):5'- gaggtgggggtgggtag -3'
(R):5'- GAGCCTACCGCACATCCAG -3'

Posted On

2013-05-09