Mutagenetix > Incidental Mutations

Incidental Mutation 'R0004:Prmt9'

32392

Institutional Source

Beutler Lab

Gene Symbol

Prmt9

Ensembl Gene

ENSMUSG00000037134

Gene Name

protein arginine methyltransferase 9

Synonyms

Prmt10

MMRRC Submission

038300-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R0004 (G1)

Quality Score

144

Status

Validated (trace)

Chromosome

Chromosomal Location

77549397-77581338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77555782 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 103 (I103V)

Ref Sequence

ENSEMBL: ENSMUSP00000112692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056237] [ENSMUST00000118622] [ENSMUST00000210040]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056237
AA Change: I103V

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000050181
Gene: ENSMUSG00000037134
AA Change: I103V

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Pfam:TPR_11	67	132	1.2e-7	PFAM
Pfam:TPR_2	102	134	7.9e-5	PFAM
Pfam:PrmA	168	257	2.5e-10	PFAM
internal_repeat_1	585	836	1.37e-10	PROSPERO

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118622
AA Change: I103V

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112692
Gene: ENSMUSG00000037134
AA Change: I103V

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Pfam:TPR_2	102	134	3e-5	PFAM
Pfam:PrmA	168	257	4.9e-10	PFAM
internal_repeat_1	585	836	1.05e-10	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142824

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210040
AA Change: I103V

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1248

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	C	2: 121,152,485	I86T	probably damaging	Het
Aff3	T	C	1: 38,269,726	D376G	possibly damaging	Het
Akap11	A	T	14: 78,514,940	H164Q	possibly damaging	Het
Akap12	A	T	10: 4,353,220	D10V	probably damaging	Het
Arhgap32	T	C	9: 32,151,998	V101A	probably damaging	Het
Atm	A	T	9: 53,453,528		probably benign	Het
Ccdc18	A	G	5: 108,161,700	D387G	possibly damaging	Het
Ccdc38	A	T	10: 93,574,102	Q261L	probably damaging	Het
Cd180	T	G	13: 102,702,708	V33G	probably benign	Het
Cd207	G	A	6: 83,674,248	Q242*	probably null	Het
Cnp	T	C	11: 100,576,807	F192S	probably damaging	Het
Colec10	G	T	15: 54,410,875	R33L	possibly damaging	Het
Csn1s1	A	T	5: 87,671,531	M16L	probably benign	Het
Dnah10	A	T	5: 124,726,902	M98L	probably benign	Het
Dnah17	T	C	11: 118,060,092	I2902V	possibly damaging	Het
Dtnb	A	G	12: 3,596,635		probably benign	Het
Epha5	T	C	5: 84,331,842	Y101C	probably damaging	Het
Ephb2	T	A	4: 136,657,524	M860L	probably damaging	Het
Fbxw18	T	C	9: 109,701,313	T77A	probably damaging	Het
Fgfbp3	A	G	19: 36,918,682	S179P	possibly damaging	Het
Foxp2	A	G	6: 15,197,096	T45A	possibly damaging	Het
Gckr	A	T	5: 31,297,589		probably benign	Het
Glce	T	A	9: 62,068,579	Q213L	probably damaging	Het
Gm1965	A	C	6: 89,146,487	H84P	unknown	Het
Hbegf	A	G	18: 36,507,506	V166A	probably damaging	Het
Helb	G	T	10: 120,108,981	H217N	probably damaging	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Kansl2	A	G	15: 98,520,376	L392P	probably damaging	Het
Klra1	A	T	6: 130,372,873	Y201N	probably damaging	Het
Klra3	A	G	6: 130,323,687	S240P	probably damaging	Het
Liph	T	A	16: 21,984,194	R42*	probably null	Het
Lrp1	A	T	10: 127,541,825		probably null	Het
Luc7l2	A	T	6: 38,589,234	K52M	probably damaging	Het
Mecom	G	A	3: 29,979,911	P215S	probably damaging	Het
Myo1g	T	A	11: 6,515,901	T395S	probably damaging	Het
Ndst4	T	A	3: 125,570,826	M384K	probably benign	Het
Ndufb2	C	T	6: 39,596,504	T51I	possibly damaging	Het
Nell1	C	A	7: 50,560,759		probably benign	Het
Olfr639	A	T	7: 104,012,431	N90K	probably benign	Het
Oxr1	G	A	15: 41,820,540	S434N	possibly damaging	Het
Pcdhac2	T	A	18: 37,145,237	S423R	probably benign	Het
Pcdhb10	T	A	18: 37,411,959	D29E	probably benign	Het
Pde10a	A	G	17: 8,981,576	T1053A	probably benign	Het
Pkdrej	T	A	15: 85,818,183	H1184L	probably damaging	Het
Prkaa2	C	T	4: 105,047,091	R263Q	probably null	Het
Rbm15b	T	C	9: 106,884,936	T678A	probably benign	Het
Ryr2	T	C	13: 11,665,919	Y3180C	probably benign	Het
Scaf1	T	C	7: 45,007,670		probably benign	Het
Scn7a	T	A	2: 66,687,795	N1024I	possibly damaging	Het
Sec23b	T	C	2: 144,564,562		probably benign	Het
Sf1	C	A	19: 6,374,191	P417Q	probably damaging	Het
Slc4a3	A	T	1: 75,557,009		probably benign	Het
Stk32a	T	C	18: 43,305,056	W207R	probably damaging	Het
Syne1	A	T	10: 5,443,132		probably benign	Het
Tecta	A	T	9: 42,345,478	V1634E	possibly damaging	Het
Tenm2	A	G	11: 36,023,357	F2450S	probably damaging	Het
Tgfb1	T	C	7: 25,692,366		probably benign	Het
Tpgs2	A	G	18: 25,158,238		probably benign	Het
Washc5	A	G	15: 59,367,467	M149T	probably damaging	Het
Wrn	A	T	8: 33,317,560	V290D	probably damaging	Het
Zbtb41	A	G	1: 139,442,888	T688A	possibly damaging	Het
Zfp560	C	T	9: 20,347,967	C533Y	probably damaging	Het
Zfp791	G	A	8: 85,110,866	A123V	probably benign	Het

Other mutations in Prmt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01801:Prmt9	APN	8	77562440	missense	probably damaging	1.00
IGL02306:Prmt9	APN	8	77560818	missense	probably benign	0.06
IGL02971:Prmt9	APN	8	77565069	missense	probably benign	0.00
1mM(1):Prmt9	UTSW	8	77555764	missense	probably benign	0.01
R0928:Prmt9	UTSW	8	77581176	missense	probably damaging	1.00
R1328:Prmt9	UTSW	8	77572654	missense	possibly damaging	0.86
R1777:Prmt9	UTSW	8	77565108	missense	probably benign	0.05
R1826:Prmt9	UTSW	8	77555674	nonsense	probably null
R1925:Prmt9	UTSW	8	77577339	missense	possibly damaging	0.52
R3855:Prmt9	UTSW	8	77568265	missense	probably benign	0.22
R3856:Prmt9	UTSW	8	77568265	missense	probably benign	0.22
R4089:Prmt9	UTSW	8	77572545	missense	probably benign	0.00
R4963:Prmt9	UTSW	8	77555729	missense	probably damaging	1.00
R5196:Prmt9	UTSW	8	77564997	missense	probably benign	0.30
R5413:Prmt9	UTSW	8	77572009	missense	possibly damaging	0.95
R5975:Prmt9	UTSW	8	77561018	intron	probably benign
R6271:Prmt9	UTSW	8	77577463	missense	probably damaging	0.96
R7023:Prmt9	UTSW	8	77549457	start gained	probably benign
R7107:Prmt9	UTSW	8	77568251	missense	possibly damaging	0.62
R7159:Prmt9	UTSW	8	77555764	missense	probably benign	0.01
R7209:Prmt9	UTSW	8	77564998	missense	probably benign	0.32
R7770:Prmt9	UTSW	8	77559185	splice site	probably null
R7819:Prmt9	UTSW	8	77568344	missense	probably benign	0.11
R7959:Prmt9	UTSW	8	77560965	missense	probably damaging	1.00
X0027:Prmt9	UTSW	8	77560883	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- TGCTGTTACCATGAGCCAAACCC -3'
(R):5'- CAAGTTCCAGACTGGACTGAGCTG -3'

Sequencing Primer
(F):5'- GGAGGCCATCATTCATTTCAG -3'
(R):5'- ggactgagctggtggtaag -3'

Posted On

2013-05-09