Mutagenetix > Incidental Mutation

Incidental Mutation 'R6908:Kdm7a'

538859

Institutional Source

Beutler Lab

Gene Symbol

Kdm7a

Ensembl Gene

ENSMUSG00000042599

Gene Name

lysine (K)-specific demethylase 7A

Synonyms

Kdm7a, Jhdm1d, ENSMUSG00000073143, A630082K20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6908 (G1)

Quality Score

190.009

Status

Validated

Chromosome

Chromosomal Location

39136623-39206789 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 39144439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 861 (L861M)

Ref Sequence

ENSEMBL: ENSMUSP00000002305 (fasta)

Gene Model

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

AlphaFold

Q3UWM4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002305
AA Change: L861M

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: L861M

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

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

95% (52/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,657,305	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,448,535		probably null	Het
B3glct	T	C	5: 149,696,476		probably null	Het
Bbs9	T	G	9: 22,567,723	I154S	probably damaging	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Ccdc186	A	T	19: 56,791,939		probably null	Het
Celf6	T	C	9: 59,603,823	V349A	probably benign	Het
Chd9	A	G	8: 90,956,416	T495A	probably benign	Het
Cxxc1	G	A	18: 74,220,559	C546Y	probably damaging	Het
Cxxc5	T	C	18: 35,859,215	V223A	probably damaging	Het
Dlc1	A	G	8: 36,937,687	F316S	probably benign	Het
Dnajc12	C	A	10: 63,397,325	Q82K	probably benign	Het
Dock8	G	A	19: 25,188,382	E1877K	probably damaging	Het
Epha3	T	G	16: 63,598,249	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,182,439	C220F	probably damaging	Het
Fryl	A	G	5: 73,022,211	L2951P	probably damaging	Het
Gbp10	T	G	5: 105,221,032	T314P	probably damaging	Het
Hbb-bs	T	C	7: 103,827,534	N77D	probably benign	Het
Ints13	A	T	6: 146,555,033	D438E	probably damaging	Het
Itgb6	C	T	2: 60,650,021	V324M	probably benign	Het
Kirrel3	A	G	9: 35,013,401	T302A	possibly damaging	Het
Lama2	A	T	10: 27,031,196		probably null	Het
Lrp2	A	T	2: 69,472,365	C3007S	probably damaging	Het
Lypd3	G	C	7: 24,638,433	G75R	probably damaging	Het
Mastl	T	C	2: 23,155,976		probably benign	Het
Mcf2l	T	C	8: 13,018,919	V1087A	probably benign	Het
Mcmdc2	C	A	1: 9,930,778		probably null	Het
Ms4a3	A	G	19: 11,638,295	I39T	probably damaging	Het
Mylk	T	G	16: 34,880,273	C495G	probably benign	Het
Myo10	A	G	15: 25,804,383	D1588G	probably damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,217,296	I460V	probably benign	Het
Nmt1	T	G	11: 103,058,254	S312A	possibly damaging	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr710	T	C	7: 106,944,632	Y123C	possibly damaging	Het
Paxip1	T	C	5: 27,791,224	Y19C	possibly damaging	Het
Pcdhb2	G	T	18: 37,296,524	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,152,446	I559T	probably damaging	Het
Plec	G	A	15: 76,185,881	Q806*	probably null	Het
Prss51	C	T	14: 64,096,152	A70V	probably benign	Het
Psd3	A	T	8: 67,964,177	I356K	probably benign	Het
Ptprn2	A	T	12: 116,888,888	I522F	probably benign	Het
Rab39	T	C	9: 53,706,069	D16G	probably damaging	Het
Ralgps1	T	C	2: 33,143,100	Q439R	probably benign	Het
Rapgef2	A	T	3: 79,104,063	D238E	probably benign	Het
Ripor2	G	A	13: 24,706,232	G697S	probably damaging	Het
Scn11a	A	T	9: 119,792,426	F642I	probably damaging	Het
Serinc4	G	A	2: 121,453,605	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 127,021,626		probably benign	Het
Slc36a3	T	C	11: 55,149,886		probably benign	Het
Smc1b	A	G	15: 85,107,010	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,352,332	S455P	probably damaging	Het
Ttn	C	A	2: 76,889,858		probably benign	Het
Tyw5	T	C	1: 57,401,523	R27G	probably damaging	Het
Vmn1r209	T	C	13: 22,806,230	T97A	possibly 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
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
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
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'- TAGAGTGTCCCCACCTACTAC -3'
(R):5'- ATGCAGAGAAAGCTTTAAATACCTC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GTAGAAGCCAGAAACACATC -3'

Posted On

2018-11-06