Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01325:Kdm7a'

74244

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kdm7a

Ensembl Gene

ENSMUSG00000042599

Gene Name

lysine (K)-specific demethylase 7A

Synonyms

Kdm7a, Jhdm1d, ENSMUSG00000073143, A630082K20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01325

Quality Score

Status

Chromosome

Chromosomal Location

39136623-39206789 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 39158309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002305]

AlphaFold

Q3UWM4

Predicted Effect

probably benign
Transcript: ENSMUST00000002305

SMART Domains

Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599

Domain	Start	End	E-Value	Type
low complexity region	2	38	N/A	INTRINSIC
PHD	39	86	8.64e-9	SMART
low complexity region	186	197	N/A	INTRINSIC
JmjC	230	386	1.09e-49	SMART
low complexity region	408	419	N/A	INTRINSIC
low complexity region	653	668	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127036

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutants exhibit abnormal hair follicle, tail, sebaceous gland, rib, and vertebrae morphology and decreased circulating iron levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 60,853,533	T127A	probably damaging	Het
Acrv1	T	A	9: 36,698,514	M227K	probably benign	Het
Adam22	T	C	5: 8,127,333	N592S	probably benign	Het
Adamts15	T	A	9: 30,921,688	I184F	possibly damaging	Het
Adcy1	T	C	11: 7,064,102	V168A	possibly damaging	Het
Arl6ip5	T	C	6: 97,232,540	F179L	probably benign	Het
Asxl2	G	T	12: 3,427,172	R6L	probably damaging	Het
Btaf1	T	A	19: 37,004,649		probably benign	Het
Ccdc136	T	C	6: 29,412,950	F445L	probably benign	Het
Cpne3	T	C	4: 19,535,229	S268G	probably benign	Het
Crtc3	C	T	7: 80,677,368	R70Q	probably damaging	Het
Fam169a	C	A	13: 97,122,699	A421E	probably benign	Het
Fhod1	A	T	8: 105,331,649	M825K	probably benign	Het
Gjb2	T	C	14: 57,100,221	T177A	probably benign	Het
Gm6576	A	G	15: 27,025,884		noncoding transcript	Het
Herpud2	A	G	9: 25,113,911	V175A	probably benign	Het
Hmgxb3	T	C	18: 61,134,006	D1052G	probably damaging	Het
Itpr1	T	A	6: 108,381,208	F578L	probably benign	Het
Krt76	A	T	15: 101,884,888	S572T	unknown	Het
Lrrcc1	T	C	3: 14,536,541		probably null	Het
March9	A	C	10: 127,057,590	V183G	probably damaging	Het
Mkl2	T	C	16: 13,401,224	V578A	probably damaging	Het
Ndufaf6	A	T	4: 11,070,251	D123E	probably benign	Het
Nhlh2	T	G	3: 102,013,026	Y125D	probably damaging	Het
Nol4l	A	G	2: 153,436,351		probably benign	Het
Npas1	C	T	7: 16,463,322	G206D	probably benign	Het
Olfr651	T	C	7: 104,553,689	F257L	probably damaging	Het
Olfr994	C	A	2: 85,430,295	C178F	possibly damaging	Het
Pcdhb4	T	A	18: 37,309,623	V662E	probably damaging	Het
Plxna3	G	A	X: 74,335,794	G758S	probably damaging	Het
Prdm15	T	A	16: 97,806,517	N709Y	probably damaging	Het
Pygo2	C	T	3: 89,432,446		probably benign	Het
Ranbp2	T	A	10: 58,476,298	S947T	probably damaging	Het
Rasgrp1	T	A	2: 117,298,529	H203L	probably damaging	Het
Rbbp6	G	A	7: 122,988,618	G270R	probably damaging	Het
Rcl1	A	G	19: 29,121,262		probably null	Het
Rpl23a-ps1	T	C	1: 45,981,633		noncoding transcript	Het
Serpinb7	T	G	1: 107,435,380	H91Q	probably damaging	Het
Shd	C	T	17: 55,972,839	P111S	possibly damaging	Het
Slc35e1	G	T	8: 72,483,758		probably benign	Het
Srgap3	C	T	6: 112,775,686	R279H	probably damaging	Het
Sstr4	G	A	2: 148,395,552	E28K	probably benign	Het
Stip1	T	C	19: 7,021,096		probably benign	Het
Syne2	A	G	12: 75,926,514	E1097G	probably benign	Het
Tbcd	T	A	11: 121,540,993	V489E	probably damaging	Het
Tnks2	T	A	19: 36,871,633	S516R	probably benign	Het
Trmt44	T	A	5: 35,568,803	R343S	possibly damaging	Het
Trps1	A	G	15: 50,846,814	S47P	probably benign	Het
Ubr3	A	C	2: 69,917,097	K235Q	possibly damaging	Het
Uckl1	G	A	2: 181,574,961	Q48*	probably null	Het
Vat1	T	C	11: 101,465,715	D140G	probably benign	Het
Vmn2r80	A	G	10: 79,194,247	T636A	possibly damaging	Het
Zfp423	A	T	8: 87,781,611		probably null	Het
Zfp667	C	A	7: 6,290,546	T15N	probably damaging	Het

Other mutations in Kdm7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Kdm7a	APN	6	39144510	missense	probably benign
IGL00976:Kdm7a	APN	6	39144398	missense	possibly damaging	0.90
IGL01063:Kdm7a	APN	6	39165130	missense	probably damaging	0.98
IGL01710:Kdm7a	APN	6	39175386	missense	probably benign	0.06
IGL01953:Kdm7a	APN	6	39146902	missense	probably benign	0.10
IGL02336:Kdm7a	APN	6	39170264	missense	probably damaging	1.00
IGL02721:Kdm7a	APN	6	39173437	missense	possibly damaging	0.93
IGL02963:Kdm7a	APN	6	39143230	missense	probably damaging	1.00
IGL03165:Kdm7a	APN	6	39170914	splice site	probably benign
R0033:Kdm7a	UTSW	6	39165197	nonsense	probably null
R0831:Kdm7a	UTSW	6	39166765	splice site	probably benign
R0920:Kdm7a	UTSW	6	39151322	missense	probably damaging	1.00
R0962:Kdm7a	UTSW	6	39147194	missense	probably benign	0.05
R1403:Kdm7a	UTSW	6	39151253	splice site	probably benign
R1632:Kdm7a	UTSW	6	39152898	missense	probably benign	0.15
R1759:Kdm7a	UTSW	6	39147699	splice site	probably null
R2143:Kdm7a	UTSW	6	39168950	missense	possibly damaging	0.61
R2197:Kdm7a	UTSW	6	39146936	missense	probably damaging	0.98
R2496:Kdm7a	UTSW	6	39170763	splice site	probably null
R3844:Kdm7a	UTSW	6	39181579	missense	probably damaging	1.00
R4083:Kdm7a	UTSW	6	39152814	missense	probably damaging	1.00
R4184:Kdm7a	UTSW	6	39148977	missense	probably benign
R4193:Kdm7a	UTSW	6	39169096	missense	probably damaging	1.00
R4402:Kdm7a	UTSW	6	39166668	missense	probably null	1.00
R4544:Kdm7a	UTSW	6	39175472	missense	probably benign	0.08
R4546:Kdm7a	UTSW	6	39175472	missense	probably benign	0.08
R4560:Kdm7a	UTSW	6	39152823	missense	probably damaging	0.96
R4561:Kdm7a	UTSW	6	39152823	missense	probably damaging	0.96
R4562:Kdm7a	UTSW	6	39152823	missense	probably damaging	0.96
R4563:Kdm7a	UTSW	6	39152823	missense	probably damaging	0.96
R4737:Kdm7a	UTSW	6	39152839	missense	possibly damaging	0.57
R5061:Kdm7a	UTSW	6	39151452	missense	possibly damaging	0.88
R5247:Kdm7a	UTSW	6	39144456	missense	probably benign	0.00
R5430:Kdm7a	UTSW	6	39149342	missense	possibly damaging	0.85
R6248:Kdm7a	UTSW	6	39147049	missense	possibly damaging	0.63
R6254:Kdm7a	UTSW	6	39170269	missense	probably damaging	1.00
R6346:Kdm7a	UTSW	6	39151211	splice site	probably null
R6420:Kdm7a	UTSW	6	39165168	missense	probably damaging	1.00
R6908:Kdm7a	UTSW	6	39144439	missense	possibly damaging	0.79
R6966:Kdm7a	UTSW	6	39152839	missense	probably damaging	1.00
R7048:Kdm7a	UTSW	6	39169048	missense	probably damaging	1.00
R7087:Kdm7a	UTSW	6	39175381	missense	probably benign	0.18
R7450:Kdm7a	UTSW	6	39143251	missense	probably damaging	1.00
R7737:Kdm7a	UTSW	6	39144404	missense	probably benign	0.03
R8172:Kdm7a	UTSW	6	39149031	missense	probably benign	0.00
R8223:Kdm7a	UTSW	6	39149301	missense	probably damaging	1.00
R8337:Kdm7a	UTSW	6	39145527	missense	probably benign	0.00
R8950:Kdm7a	UTSW	6	39146969	missense	probably benign
R8996:Kdm7a	UTSW	6	39152852	missense	probably benign	0.21
R9421:Kdm7a	UTSW	6	39152829	missense	possibly damaging	0.83
R9497:Kdm7a	UTSW	6	39151319	missense	probably damaging	1.00
R9506:Kdm7a	UTSW	6	39149371	missense	probably benign	0.08
R9523:Kdm7a	UTSW	6	39170833	missense	probably damaging	1.00
R9630:Kdm7a	UTSW	6	39173305	missense	probably damaging	0.96
RF012:Kdm7a	UTSW	6	39206513	missense	probably damaging	1.00

Posted On

2013-10-07