Mutagenetix > Incidental Mutation

Incidental Mutation 'R4546:Kdm7a'

333771

Institutional Source

Beutler Lab

Gene Symbol

Kdm7a

Ensembl Gene

ENSMUSG00000042599

Gene Name

lysine (K)-specific demethylase 7A

Synonyms

Kdm7a, Jhdm1d, ENSMUSG00000073143, A630082K20Rik

MMRRC Submission

041780-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4546 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39136623-39206789 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39175472 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 97 (R97G)

Ref Sequence

ENSEMBL: ENSMUSP00000002305 (fasta)

Gene Model

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

AlphaFold

Q3UWM4

Predicted Effect

probably benign
Transcript: ENSMUST00000002305
AA Change: R97G

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: R97G

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

Meta Mutation Damage Score

0.0980

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (65/67)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	G	A	14: 70,156,478	S236L	probably benign	Het
Alg9	C	T	9: 50,805,354	T409M	possibly damaging	Het
Alpi	T	A	1: 87,099,117	Y413F	probably damaging	Het
Asmt	T	C	X: 170,676,495		probably null	Het
Atf7	A	G	15: 102,534,327	V449A	probably benign	Het
Bnc2	A	G	4: 84,291,976	F744L	probably benign	Het
Ccnyl1	G	T	1: 64,723,576	M347I	probably benign	Het
Cdk13	T	C	13: 17,766,574	K21R	probably damaging	Het
Cenpf	A	C	1: 189,654,650	L1811R	probably damaging	Het
Cr2	A	G	1: 195,171,041	I43T	possibly damaging	Het
Cspg4	T	A	9: 56,888,629	L1216Q	possibly damaging	Het
Cylc2	C	G	4: 51,229,651	T331R	unknown	Het
Cylc2	A	T	4: 51,229,840	D394V	unknown	Het
Dcaf8	T	C	1: 172,179,893		probably benign	Het
Dlec1	A	T	9: 119,128,078	I796F	probably damaging	Het
Dnah12	A	T	14: 26,773,014	Q1343L	probably damaging	Het
Dnajc21	T	C	15: 10,447,097	R522G	probably benign	Het
F2rl3	C	T	8: 72,762,583	A146V	probably benign	Het
Fastkd1	C	T	2: 69,712,311	E51K	probably damaging	Het
Glrb	T	C	3: 80,879,686	S57G	probably damaging	Het
Gm10093	A	T	17: 78,492,959	T460S	probably benign	Het
Gm4737	C	T	16: 46,153,967	C349Y	possibly damaging	Het
Gm5507	T	A	18: 53,984,337		noncoding transcript	Het
Golga4	A	G	9: 118,556,845	K22E	probably damaging	Het
Ift122	T	A	6: 115,890,588	L433Q	probably damaging	Het
Il21r	A	G	7: 125,628,899	R181G	probably damaging	Het
Il5ra	G	T	6: 106,738,498	S125*	probably null	Het
Lepr	T	A	4: 101,814,641	I954N	probably benign	Het
Lims1	T	C	10: 58,418,790		probably benign	Het
Maats1	C	T	16: 38,335,523	V113I	probably benign	Het
Mest	T	C	6: 30,740,680	W13R	probably damaging	Het
Mfn2	A	G	4: 147,887,452	V224A	probably benign	Het
Muc15	T	C	2: 110,737,499	S330P	probably damaging	Het
Ncapg	T	C	5: 45,671,212	F102L	probably damaging	Het
Nkd2	T	C	13: 73,823,356	D187G	probably benign	Het
Nphp1	C	T	2: 127,766,019		probably null	Het
Olfr1129	T	C	2: 87,575,186	F34S	probably benign	Het
Olfr378	T	C	11: 73,425,186	N266D	probably benign	Het
Olfr446	C	T	6: 42,927,414	S61L	probably damaging	Het
Osbpl6	T	C	2: 76,584,492	V409A	possibly damaging	Het
Pdhx	A	T	2: 103,073,397	L18Q	probably null	Het
Pear1	C	T	3: 87,754,661	G469D	probably damaging	Het
Plec	T	C	15: 76,181,557	T1506A	probably benign	Het
Plod3	T	A	5: 136,988,947	D192E	possibly damaging	Het
Rbks	T	C	5: 31,624,568	N296S	probably benign	Het
Sema3c	G	A	5: 17,694,772	V421I	probably benign	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Slc7a8	C	G	14: 54,735,790	G240A	possibly damaging	Het
Tmem200c	A	G	17: 68,842,171	D583G	probably benign	Het
Trpm6	A	G	19: 18,832,477	Y1079C	probably damaging	Het
Ttn	T	C	2: 76,822,588		probably null	Het
Vcp	T	C	4: 42,988,813		probably benign	Het
Vmn2r78	T	C	7: 86,954,603	V663A	probably damaging	Het
Vmn2r9	T	G	5: 108,847,685	M366L	probably benign	Het
Wdr11	A	G	7: 129,629,005	E878G	probably damaging	Het
Zan	C	G	5: 137,383,834	M5150I	unknown	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
IGL01325:Kdm7a	APN	6	39158309	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCCACTGTATCAGCCAATGC -3'
(R):5'- CAAATGTCTTATCCTGAGTAGATGG -3'

Sequencing Primer
(F):5'- CAATGCTGTTAAACATTGTTTAAGCC -3'
(R):5'- CTGGGAATTGAACTCAGGACCTCTG -3'

Posted On

2015-08-18