Mutagenetix > Incidental Mutation

Incidental Mutation 'R4083:Kdm7a'

368228

Institutional Source

Beutler Lab

Gene Symbol

Kdm7a

Ensembl Gene

ENSMUSG00000042599

Gene Name

lysine (K)-specific demethylase 7A

Synonyms

ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik

MMRRC Submission

040978-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4083 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39113554-39183707 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39129748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 476 (E476G)

Ref Sequence

ENSEMBL: ENSMUSP00000002305 (fasta)

Gene Model

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

AlphaFold

Q3UWM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000002305
AA Change: E476G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: E476G

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

0.1410

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

97% (31/32)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asah2	A	G	19: 31,964,184 (GRCm39)	S749P	probably benign	Het
Ccdc159	T	C	9: 21,840,699 (GRCm39)	S89P	possibly damaging	Het
Cnbd1	A	T	4: 18,886,042 (GRCm39)	S326T	possibly damaging	Het
Dpy19l1	G	A	9: 24,396,344 (GRCm39)	T124M	possibly damaging	Het
Fmod	A	T	1: 133,968,043 (GRCm39)	I28F	probably benign	Het
Gm8674	A	T	13: 50,055,047 (GRCm39)		noncoding transcript	Het
Grm3	T	G	5: 9,562,054 (GRCm39)	I599L	probably benign	Het
Hgf	G	T	5: 16,820,856 (GRCm39)	G668*	probably null	Het
Hsd17b11	A	T	5: 104,138,434 (GRCm39)	V280D	possibly damaging	Het
Igkv8-26	G	T	6: 70,170,547 (GRCm39)	S46I	probably damaging	Het
Lgals9	A	T	11: 78,860,589 (GRCm39)	F162Y	possibly damaging	Het
Lig3	T	A	11: 82,681,320 (GRCm39)	N437K	probably benign	Het
Mterf4	A	C	1: 93,232,380 (GRCm39)	M157R	possibly damaging	Het
Nbas	T	C	12: 13,524,192 (GRCm39)	W1683R	probably damaging	Het
Nmur2	G	C	11: 55,931,051 (GRCm39)	P220R	probably damaging	Het
Or14j10	T	G	17: 37,935,316 (GRCm39)	D70A	probably damaging	Het
Or2ag2	G	T	7: 106,485,851 (GRCm39)	P58T	probably damaging	Het
Pcdh10	A	C	3: 45,347,142 (GRCm39)	D979A	probably damaging	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rab27a	G	T	9: 72,989,721 (GRCm39)	R64L	probably damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc22a16	T	A	10: 40,450,065 (GRCm39)	L167Q	probably damaging	Het
Srgap1	A	G	10: 121,621,595 (GRCm39)	V989A	probably damaging	Het
Sstr2	T	C	11: 113,516,071 (GRCm39)	V330A	probably benign	Het
Tdrd1	T	C	19: 56,831,662 (GRCm39)	M351T	probably benign	Het
Trav7d-3	C	A	14: 52,982,212 (GRCm39)	H84Q	probably benign	Het

Other mutations in Kdm7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Kdm7a	APN	6	39,121,444 (GRCm39)	missense	probably benign
IGL00976:Kdm7a	APN	6	39,121,332 (GRCm39)	missense	possibly damaging	0.90
IGL01063:Kdm7a	APN	6	39,142,064 (GRCm39)	missense	probably damaging	0.98
IGL01325:Kdm7a	APN	6	39,135,243 (GRCm39)	splice site	probably benign
IGL01710:Kdm7a	APN	6	39,152,320 (GRCm39)	missense	probably benign	0.06
IGL01953:Kdm7a	APN	6	39,123,836 (GRCm39)	missense	probably benign	0.10
IGL02336:Kdm7a	APN	6	39,147,198 (GRCm39)	missense	probably damaging	1.00
IGL02721:Kdm7a	APN	6	39,150,371 (GRCm39)	missense	possibly damaging	0.93
IGL02963:Kdm7a	APN	6	39,120,164 (GRCm39)	missense	probably damaging	1.00
IGL03165:Kdm7a	APN	6	39,147,848 (GRCm39)	splice site	probably benign
R0033:Kdm7a	UTSW	6	39,142,131 (GRCm39)	nonsense	probably null
R0831:Kdm7a	UTSW	6	39,143,699 (GRCm39)	splice site	probably benign
R0920:Kdm7a	UTSW	6	39,128,256 (GRCm39)	missense	probably damaging	1.00
R0962:Kdm7a	UTSW	6	39,124,128 (GRCm39)	missense	probably benign	0.05
R1403:Kdm7a	UTSW	6	39,128,187 (GRCm39)	splice site	probably benign
R1632:Kdm7a	UTSW	6	39,129,832 (GRCm39)	missense	probably benign	0.15
R1759:Kdm7a	UTSW	6	39,124,633 (GRCm39)	splice site	probably null
R2143:Kdm7a	UTSW	6	39,145,884 (GRCm39)	missense	possibly damaging	0.61
R2197:Kdm7a	UTSW	6	39,123,870 (GRCm39)	missense	probably damaging	0.98
R2496:Kdm7a	UTSW	6	39,147,697 (GRCm39)	splice site	probably null
R3844:Kdm7a	UTSW	6	39,158,513 (GRCm39)	missense	probably damaging	1.00
R4184:Kdm7a	UTSW	6	39,125,911 (GRCm39)	missense	probably benign
R4193:Kdm7a	UTSW	6	39,146,030 (GRCm39)	missense	probably damaging	1.00
R4402:Kdm7a	UTSW	6	39,143,602 (GRCm39)	missense	probably null	1.00
R4544:Kdm7a	UTSW	6	39,152,406 (GRCm39)	missense	probably benign	0.08
R4546:Kdm7a	UTSW	6	39,152,406 (GRCm39)	missense	probably benign	0.08
R4560:Kdm7a	UTSW	6	39,129,757 (GRCm39)	missense	probably damaging	0.96
R4561:Kdm7a	UTSW	6	39,129,757 (GRCm39)	missense	probably damaging	0.96
R4562:Kdm7a	UTSW	6	39,129,757 (GRCm39)	missense	probably damaging	0.96
R4563:Kdm7a	UTSW	6	39,129,757 (GRCm39)	missense	probably damaging	0.96
R4737:Kdm7a	UTSW	6	39,129,773 (GRCm39)	missense	possibly damaging	0.57
R5061:Kdm7a	UTSW	6	39,128,386 (GRCm39)	missense	possibly damaging	0.88
R5247:Kdm7a	UTSW	6	39,121,390 (GRCm39)	missense	probably benign	0.00
R5430:Kdm7a	UTSW	6	39,126,276 (GRCm39)	missense	possibly damaging	0.85
R6248:Kdm7a	UTSW	6	39,123,983 (GRCm39)	missense	possibly damaging	0.63
R6254:Kdm7a	UTSW	6	39,147,203 (GRCm39)	missense	probably damaging	1.00
R6346:Kdm7a	UTSW	6	39,128,145 (GRCm39)	splice site	probably null
R6420:Kdm7a	UTSW	6	39,142,102 (GRCm39)	missense	probably damaging	1.00
R6908:Kdm7a	UTSW	6	39,121,373 (GRCm39)	missense	possibly damaging	0.79
R6966:Kdm7a	UTSW	6	39,129,773 (GRCm39)	missense	probably damaging	1.00
R7048:Kdm7a	UTSW	6	39,145,982 (GRCm39)	missense	probably damaging	1.00
R7087:Kdm7a	UTSW	6	39,152,315 (GRCm39)	missense	probably benign	0.18
R7450:Kdm7a	UTSW	6	39,120,185 (GRCm39)	missense	probably damaging	1.00
R7737:Kdm7a	UTSW	6	39,121,338 (GRCm39)	missense	probably benign	0.03
R8172:Kdm7a	UTSW	6	39,125,965 (GRCm39)	missense	probably benign	0.00
R8223:Kdm7a	UTSW	6	39,126,235 (GRCm39)	missense	probably damaging	1.00
R8337:Kdm7a	UTSW	6	39,122,461 (GRCm39)	missense	probably benign	0.00
R8950:Kdm7a	UTSW	6	39,123,903 (GRCm39)	missense	probably benign
R8996:Kdm7a	UTSW	6	39,129,786 (GRCm39)	missense	probably benign	0.21
R9421:Kdm7a	UTSW	6	39,129,763 (GRCm39)	missense	possibly damaging	0.83
R9497:Kdm7a	UTSW	6	39,128,253 (GRCm39)	missense	probably damaging	1.00
R9506:Kdm7a	UTSW	6	39,126,305 (GRCm39)	missense	probably benign	0.08
R9523:Kdm7a	UTSW	6	39,147,767 (GRCm39)	missense	probably damaging	1.00
R9630:Kdm7a	UTSW	6	39,150,239 (GRCm39)	missense	probably damaging	0.96
RF012:Kdm7a	UTSW	6	39,183,447 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAACTGGAACTGCCTCTGTTG -3'
(R):5'- ATAAGATTCACTGTGAGGCAAATCC -3'

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

Posted On

2016-01-07