Mutagenetix > Incidental Mutation

Incidental Mutation 'R7629:Prmt8'

589543

Institutional Source

Beutler Lab

Gene Symbol

Prmt8

Ensembl Gene

ENSMUSG00000030350

Gene Name

protein arginine N-methyltransferase 8

Synonyms

Hrmt1l3, Hrmt1l4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127689011-127769472 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 127689883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 376 (L376*)

Ref Sequence

ENSEMBL: ENSMUSP00000032500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032500]

AlphaFold

Q6PAK3

Predicted Effect

probably null
Transcript: ENSMUST00000032500
AA Change: L376*

SMART Domains

Protein: ENSMUSP00000032500
Gene: ENSMUSG00000030350
AA Change: L376*

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
Pfam:PRMT5	80	368	4.5e-7	PFAM
Pfam:PrmA	102	200	2e-10	PFAM
Pfam:Methyltransf_31	110	274	7.3e-9	PFAM
Pfam:Methyltransf_18	111	215	9.9e-8	PFAM
Pfam:Methyltransf_11	116	215	6.2e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit abnormal Purkinje cell dendrite morphology, hyperactivity, limb grasping and gait abnormalities, and show reduced levels of acetylcholine and choline along with increased phosphatidylcholine levels in the cerebellum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,707,405	T168I	probably benign	Het
2410089E03Rik	C	T	15: 8,227,067	Q2004*	probably null	Het
Abtb2	T	A	2: 103,683,493		probably null	Het
Ankrd10	A	T	8: 11,615,769	V277E	probably benign	Het
Ankrd28	C	T	14: 31,715,264	V615I	probably benign	Het
Aqr	G	A	2: 114,114,593	P1079L	probably damaging	Het
Brox	G	A	1: 183,292,504	A60V	probably damaging	Het
Copg1	T	C	6: 87,894,169	V289A	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
D430042O09Rik	T	C	7: 125,795,250	L192P	probably damaging	Het
Dido1	T	C	2: 180,661,473	N1546S	probably benign	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dmxl1	T	A	18: 49,859,270	I361N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,754,317	D88E	probably benign	Het
Flywch1	A	G	17: 23,755,770	M632T	probably benign	Het
Henmt1	A	G	3: 108,958,597	T213A	probably benign	Het
Itga9	T	C	9: 118,698,446	V555A	probably benign	Het
Kif13b	C	T	14: 64,779,335	R1317*	probably null	Het
Kndc1	A	T	7: 139,895,260	E25V	probably damaging	Het
Lingo2	T	A	4: 35,708,675	D435V	possibly damaging	Het
Lrrc14b	T	A	13: 74,361,164	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,214,257		probably null	Het
Mgat4c	G	A	10: 102,389,070	V382I	probably benign	Het
Mpp6	T	C	6: 50,196,623	I489T	probably benign	Het
Muc16	T	C	9: 18,566,785	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,627,254		probably null	Het
Neb	T	C	2: 52,273,961	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,050,694	V75A	possibly damaging	Het
Olfr1277	C	T	2: 111,269,876	V164I	probably benign	Het
Paf1	T	C	7: 28,395,068	Y35H	probably damaging	Het
Panx3	T	A	9: 37,661,444	Q270L	possibly damaging	Het
Pde6h	G	T	6: 136,959,319	R20L	possibly damaging	Het
Pdxk	A	G	10: 78,445,006	I200T	probably benign	Het
Ppara	A	T	15: 85,798,191	M363L	probably damaging	Het
Serpina1a	G	C	12: 103,853,808	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,093,022	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,848,395	W7R	possibly damaging	Het
Skint5	T	C	4: 113,942,660	Y104C	probably damaging	Het
Slamf6	A	T	1: 171,936,624	T195S	probably damaging	Het
Slc2a6	T	C	2: 27,024,202	D301G	probably benign	Het
Stab2	A	T	10: 86,883,782		probably null	Het
Tctn3	C	G	19: 40,611,336	D141H	probably damaging	Het
Tnik	A	G	3: 28,661,728	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,537,937	V711I	probably benign	Het
Trim11	G	A	11: 58,978,334	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 85,019,855		probably null	Het
Vmn1r72	T	C	7: 11,669,784	I246V	probably benign	Het
Zfp362	G	T	4: 128,786,055	R273S	probably damaging	Het
Zfp715	T	C	7: 43,301,676	D66G	possibly damaging	Het

Other mutations in Prmt8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02122:Prmt8	APN	6	127690717	missense	probably benign	0.17
IGL02178:Prmt8	APN	6	127697807	missense	probably benign	0.06
IGL02526:Prmt8	APN	6	127711823	missense	probably damaging	0.96
IGL03010:Prmt8	APN	6	127729535	missense	probably benign	0.09
IGL03037:Prmt8	APN	6	127703977	missense	possibly damaging	0.75
R0096:Prmt8	UTSW	6	127732627	splice site	probably benign
R0254:Prmt8	UTSW	6	127711808	missense	probably damaging	1.00
R0355:Prmt8	UTSW	6	127711874	nonsense	probably null
R0925:Prmt8	UTSW	6	127697813	missense	probably benign	0.00
R1606:Prmt8	UTSW	6	127689836	nonsense	probably null
R1716:Prmt8	UTSW	6	127726523	critical splice donor site	probably null
R3789:Prmt8	UTSW	6	127711147	missense	probably damaging	1.00
R3790:Prmt8	UTSW	6	127711147	missense	probably damaging	1.00
R3958:Prmt8	UTSW	6	127732744	missense	probably benign	0.00
R5022:Prmt8	UTSW	6	127711163	missense	possibly damaging	0.92
R5143:Prmt8	UTSW	6	127732714	missense	probably benign
R5635:Prmt8	UTSW	6	127768729	missense	probably damaging	1.00
R5816:Prmt8	UTSW	6	127697738	missense	probably benign	0.09
R5959:Prmt8	UTSW	6	127729418	missense	probably damaging	1.00
R6267:Prmt8	UTSW	6	127711804	missense	probably damaging	0.99
R6296:Prmt8	UTSW	6	127711804	missense	probably damaging	0.99
R6450:Prmt8	UTSW	6	127732643	missense	possibly damaging	0.71
R6603:Prmt8	UTSW	6	127729413	missense	probably benign	0.00
R7208:Prmt8	UTSW	6	127689829	missense	possibly damaging	0.81
R7719:Prmt8	UTSW	6	127729503	missense	probably damaging	0.97
R8313:Prmt8	UTSW	6	127689850	missense	probably benign
R8346:Prmt8	UTSW	6	127711847	missense	probably damaging	1.00
R8404:Prmt8	UTSW	6	127689862	missense	possibly damaging	0.93
R8483:Prmt8	UTSW	6	127704013	splice site	probably null
R8843:Prmt8	UTSW	6	127729499	missense	probably damaging	0.99
X0020:Prmt8	UTSW	6	127697771	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGCCAATCTTCAAGGCAGAG -3'
(R):5'- GCTATCAGAGCCCTTTCTGTG -3'

Sequencing Primer
(F):5'- TCTTCAAGGCAGAGTGGAAAGCTC -3'
(R):5'- CAGAGCCCTTTCTGTGAGGATAATG -3'

Posted On

2019-10-24