Mutagenetix > Incidental Mutation

Incidental Mutation 'R4561:Kdm7a'

343091

Institutional Source

Beutler Lab

Gene Symbol

Kdm7a

Ensembl Gene

ENSMUSG00000042599

Gene Name

lysine (K)-specific demethylase 7A

Synonyms

Kdm7a, Jhdm1d, ENSMUSG00000073143, A630082K20Rik

MMRRC Submission

041786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39136623-39206789 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 39152823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 473 (R473Q)

Ref Sequence

ENSEMBL: ENSMUSP00000002305 (fasta)

Gene Model

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

AlphaFold

Q3UWM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000002305
AA Change: R473Q

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: R473Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146981

Meta Mutation Damage Score

0.3989

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 70,002,018	S1601P	probably damaging	Het
Arnt	A	G	3: 95,452,613	N56D	probably damaging	Het
Atad5	A	G	11: 80,095,889	T601A	probably benign	Het
Calr4	A	G	4: 109,246,182	N163S	probably damaging	Het
Cenpc1	C	A	5: 86,047,632	A93S	probably damaging	Het
Cep135	C	T	5: 76,638,193	H1048Y	possibly damaging	Het
Ctnna2	A	G	6: 77,636,713		probably null	Het
Ddx60	T	C	8: 61,942,461	L144P	probably damaging	Het
Dera	A	T	6: 137,780,738	T96S	possibly damaging	Het
Dock9	T	A	14: 121,559,007	M1853L	probably benign	Het
Erbb4	G	A	1: 68,343,921	R306*	probably null	Het
Glyat	G	T	19: 12,651,280	L146F	possibly damaging	Het
Grk4	C	A	5: 34,694,813	Q134K	probably benign	Het
Hkdc1	T	C	10: 62,409,839	Q181R	probably benign	Het
Huwe1	A	T	X: 151,863,959	I682F	probably damaging	Het
Ipo4	C	T	14: 55,630,089		probably benign	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,571,955		probably benign	Het
Kcnd2	A	G	6: 21,216,396	Q33R	probably benign	Het
Klhl30	A	T	1: 91,361,031	H504L	probably damaging	Het
Map4	A	G	9: 110,052,371	Y101C	possibly damaging	Het
Mfn2	C	A	4: 147,877,035	R707L	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myof	T	C	19: 37,922,990	N1511D	probably benign	Het
Neb	A	T	2: 52,286,155	Y1431N	probably damaging	Het
Nlrc5	A	G	8: 94,477,146	T625A	probably damaging	Het
Olfr996	G	T	2: 85,579,620	C127F	probably damaging	Het
Pax2	A	G	19: 44,835,963	Y374C	unknown	Het
Pde8a	T	A	7: 81,308,820	Y315*	probably null	Het
Pkhd1	A	T	1: 20,534,719	L1124Q	possibly damaging	Het
Ppp1r3a	A	G	6: 14,754,682	F189L	probably damaging	Het
Prex2	G	A	1: 11,184,545		probably null	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Slc22a22	T	A	15: 57,263,385	Q77L	probably damaging	Het
Slc24a2	A	T	4: 87,227,397	V140D	probably damaging	Het
Slc35g2	C	A	9: 100,553,234	R128L	probably damaging	Het
Slco1b2	A	G	6: 141,671,167	T409A	probably benign	Het
Spag7	T	C	11: 70,664,990	I80M	probably damaging	Het
Srgap3	A	G	6: 112,781,054	M164T	probably damaging	Het
Sspo	A	T	6: 48,475,534		probably null	Het
Tcte2	T	C	17: 13,722,602		probably benign	Het
Tmem117	A	T	15: 95,094,796	M446L	probably benign	Het
Tmtc4	T	C	14: 122,963,298	T194A	probably benign	Het
Ttc21b	T	C	2: 66,186,218	Y1269C	probably damaging	Het
Zfp236	A	T	18: 82,620,406	I1363N	probably damaging	Het
Zfp760	T	A	17: 21,723,667	S608T	probably benign	Het
Zfp947	G	T	17: 22,146,143	Y183*	probably null	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
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'- GGAACTGCCTCTGTTGTTTTATAAC -3'
(R):5'- ATAAGATTCACTGTGAGGCAAATCC -3'

Sequencing Primer
(F):5'- ACTTCACACGTGTCAGTG -3'
(R):5'- CCTCCTAGCTATTGGGATTAAAGGC -3'

Posted On

2015-09-24