Incidental Mutation 'R6032:Prmt1'
| ID |
506190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt1
|
| Ensembl Gene |
ENSMUSG00000109324 |
| Gene Name |
protein arginine N-methyltransferase 1 |
| Synonyms |
6720434D09Rik, Hrmt1l2 |
| MMRRC Submission |
044204-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6032 (G1)
|
| Quality Score |
170.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44626179-44635844 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1596 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 44626526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045325]
[ENSMUST00000063761]
[ENSMUST00000107843]
[ENSMUST00000207370]
[ENSMUST00000207522]
[ENSMUST00000207659]
[ENSMUST00000208829]
[ENSMUST00000209124]
[ENSMUST00000212836]
[ENSMUST00000208938]
[ENSMUST00000212255]
[ENSMUST00000211862]
[ENSMUST00000208312]
|
| AlphaFold |
Q9JIF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045325
|
| SMART Domains |
Protein: ENSMUSP00000045365
Gene: ENSMUSG00000109324
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRMT5
|
41 |
343 |
3.9e-11 |
PFAM |
|
Pfam:Met_10
|
72 |
184 |
5.4e-7 |
PFAM |
|
Pfam:MTS
|
78 |
162 |
7e-7 |
PFAM |
|
Pfam:PrmA
|
79 |
182 |
8.1e-10 |
PFAM |
|
Pfam:Methyltransf_31
|
86 |
226 |
4.1e-10 |
PFAM |
|
Pfam:Methyltransf_18
|
88 |
195 |
3.5e-9 |
PFAM |
|
Pfam:Methyltransf_26
|
89 |
189 |
1.4e-8 |
PFAM |
|
Pfam:Methyltransf_11
|
93 |
192 |
3.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063761
|
| SMART Domains |
Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CPT_N
|
1 |
47 |
2.3e-21 |
PFAM |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
Pfam:Carn_acyltransf
|
171 |
757 |
7.7e-167 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107843
|
| SMART Domains |
Protein: ENSMUSP00000103474
Gene: ENSMUSG00000109324
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRMT5
|
41 |
343 |
1.9e-8 |
PFAM |
|
Pfam:MTS
|
78 |
162 |
1.1e-6 |
PFAM |
|
Pfam:PrmA
|
79 |
181 |
1.3e-9 |
PFAM |
|
Pfam:Methyltransf_31
|
86 |
226 |
4e-10 |
PFAM |
|
Pfam:Methyltransf_18
|
88 |
192 |
6.2e-9 |
PFAM |
|
Pfam:Methyltransf_11
|
93 |
192 |
1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207515
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207659
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208829
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209089
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209056
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207702
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208938
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207735
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212255
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208897
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208312
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208778
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein arginine N-methyltransferase (PRMT) family. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to terminal guanidino nitrogen atoms. The encoded protein is a type I PRMT and is responsible for the majority of cellular arginine methylation activity. Increased expression of this gene may play a role in many types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]
PHENOTYPE: Embryos homozygous for a null mutation die before E6.5 and exhibit abnormal embryonic tissue morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A2ml1 |
T |
A |
6: 128,526,799 (GRCm39) |
K1071* |
probably null |
Het |
| Abca13 |
G |
T |
11: 9,247,752 (GRCm39) |
V2500F |
possibly damaging |
Het |
| Adamdec1 |
T |
C |
14: 68,816,633 (GRCm39) |
E85G |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,264,970 (GRCm39) |
V199A |
probably benign |
Het |
| Aoc2 |
G |
A |
11: 101,216,627 (GRCm39) |
V237M |
probably damaging |
Het |
| Aplp2 |
C |
T |
9: 31,062,240 (GRCm39) |
R672H |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,045,513 (GRCm39) |
N886S |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Atp6v1a |
T |
C |
16: 43,927,303 (GRCm39) |
Y328C |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,267,521 (GRCm39) |
Y103C |
probably damaging |
Het |
| Crem |
C |
T |
18: 3,267,673 (GRCm39) |
R190Q |
probably damaging |
Het |
| Crybg1 |
A |
G |
10: 43,832,756 (GRCm39) |
S2000P |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,329,995 (GRCm39) |
T2629S |
probably benign |
Het |
| Cyp3a44 |
G |
T |
5: 145,714,756 (GRCm39) |
S465Y |
probably damaging |
Het |
| Daam2 |
A |
C |
17: 49,793,525 (GRCm39) |
F331V |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,205,443 (GRCm39) |
S146P |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
| Fam184b |
G |
A |
5: 45,740,238 (GRCm39) |
S316L |
probably benign |
Het |
| Fat2 |
G |
C |
11: 55,144,760 (GRCm39) |
T4038S |
probably damaging |
Het |
| Fbxl19 |
C |
T |
7: 127,360,437 (GRCm39) |
R439C |
probably damaging |
Het |
| Gm3454 |
T |
A |
15: 75,183,448 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch3 |
A |
G |
4: 133,305,617 (GRCm39) |
E284G |
probably benign |
Het |
| Grm1 |
A |
T |
10: 10,595,549 (GRCm39) |
I693N |
probably damaging |
Het |
| Gsdme |
T |
A |
6: 50,222,934 (GRCm39) |
Q127L |
probably damaging |
Het |
| Ifnlr1 |
A |
G |
4: 135,432,937 (GRCm39) |
K458E |
probably benign |
Het |
| Kcns2 |
T |
C |
15: 34,839,080 (GRCm39) |
F148L |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,057,638 (GRCm39) |
T571A |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,469,254 (GRCm39) |
V108M |
probably damaging |
Het |
| Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,264,147 (GRCm39) |
D144E |
possibly damaging |
Het |
| Nos3 |
A |
T |
5: 24,584,809 (GRCm39) |
T738S |
probably benign |
Het |
| Nrxn2 |
A |
T |
19: 6,567,162 (GRCm39) |
T1353S |
probably damaging |
Het |
| Or2b7 |
G |
T |
13: 21,740,077 (GRCm39) |
S38R |
probably benign |
Het |
| Or4f4b |
T |
C |
2: 111,314,195 (GRCm39) |
L140P |
probably damaging |
Het |
| Or8g17 |
A |
G |
9: 38,930,261 (GRCm39) |
I192T |
probably benign |
Het |
| Pfpl |
A |
G |
19: 12,406,747 (GRCm39) |
T333A |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,284,137 (GRCm39) |
I565F |
possibly damaging |
Het |
| Ppef2 |
A |
G |
5: 92,378,383 (GRCm39) |
V604A |
probably benign |
Het |
| Pramel13 |
A |
C |
4: 144,119,598 (GRCm39) |
I323S |
possibly damaging |
Het |
| Rel |
A |
G |
11: 23,692,684 (GRCm39) |
S450P |
probably benign |
Het |
| Rpap2 |
A |
C |
5: 107,745,661 (GRCm39) |
D3A |
probably damaging |
Het |
| Shisa9 |
T |
C |
16: 11,802,772 (GRCm39) |
F110L |
possibly damaging |
Het |
| Slc25a10 |
A |
T |
11: 120,385,784 (GRCm39) |
|
probably null |
Het |
| Slx4 |
A |
T |
16: 3,798,021 (GRCm39) |
F1454L |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,950,430 (GRCm39) |
V1198D |
possibly damaging |
Het |
| Supt5 |
T |
C |
7: 28,015,600 (GRCm39) |
Y879C |
probably damaging |
Het |
| Tbx15 |
T |
C |
3: 99,259,833 (GRCm39) |
M568T |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,429,472 (GRCm39) |
H698R |
possibly damaging |
Het |
| Trappc9 |
T |
C |
15: 72,797,379 (GRCm39) |
N803D |
probably benign |
Het |
| Trim10 |
A |
T |
17: 37,182,606 (GRCm39) |
R157S |
possibly damaging |
Het |
| Wsb1 |
T |
C |
11: 79,131,025 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,365,874 (GRCm39) |
S178G |
probably benign |
Het |
| Zftraf1 |
C |
T |
15: 76,543,058 (GRCm39) |
R34Q |
probably damaging |
Het |
|
| Other mutations in Prmt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01344:Prmt1
|
APN |
7 |
44,627,059 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03195:Prmt1
|
APN |
7 |
44,626,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0110:Prmt1
|
UTSW |
7 |
44,628,225 (GRCm39) |
unclassified |
probably benign |
|
|
R0313:Prmt1
|
UTSW |
7 |
44,628,172 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0326:Prmt1
|
UTSW |
7 |
44,628,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Prmt1
|
UTSW |
7 |
44,631,203 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0531:Prmt1
|
UTSW |
7 |
44,627,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Prmt1
|
UTSW |
7 |
44,628,225 (GRCm39) |
splice site |
probably null |
|
|
R2002:Prmt1
|
UTSW |
7 |
44,628,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4712:Prmt1
|
UTSW |
7 |
44,631,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6153:Prmt1
|
UTSW |
7 |
44,631,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7087:Prmt1
|
UTSW |
7 |
44,631,007 (GRCm39) |
splice site |
probably null |
|
|
R7216:Prmt1
|
UTSW |
7 |
44,632,997 (GRCm39) |
missense |
probably benign |
|
|
R7655:Prmt1
|
UTSW |
7 |
44,633,552 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7656:Prmt1
|
UTSW |
7 |
44,633,552 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7747:Prmt1
|
UTSW |
7 |
44,633,560 (GRCm39) |
splice site |
probably null |
|
|
R9111:Prmt1
|
UTSW |
7 |
44,631,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Prmt1
|
UTSW |
7 |
44,628,933 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACAGCTGACCCTTGAAG -3'
(R):5'- AATCACCTGGCTCCTGTTAC -3'
Sequencing Primer
(F):5'- GTCCAGGTCGATGGTAAAGTCC -3'
(R):5'- GTGTGATGCTAGGAACACCTAACC -3'
|
| Posted On |
2018-03-08 |
Incidental Mutation