Incidental Mutation 'R5143:Prmt8'
ID |
396519 |
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)
|
Stock # |
R5143 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
127665972-127746430 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 127709677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 61
(M61T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032500]
|
AlphaFold |
Q6PAK3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032500
AA Change: M61T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032500 Gene: ENSMUSG00000030350 AA Change: M61T
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
C |
T |
5: 109,887,064 (GRCm39) |
|
probably null |
Het |
Abcc2 |
T |
C |
19: 43,810,100 (GRCm39) |
I886T |
probably benign |
Het |
Adrb2 |
T |
C |
18: 62,311,847 (GRCm39) |
Y326C |
probably damaging |
Het |
Aplp1 |
G |
A |
7: 30,140,548 (GRCm39) |
R334C |
probably damaging |
Het |
AY358078 |
T |
C |
14: 52,040,006 (GRCm39) |
S39P |
unknown |
Het |
Bpifb2 |
A |
T |
2: 153,720,424 (GRCm39) |
D61V |
probably damaging |
Het |
Caap1 |
A |
T |
4: 94,389,619 (GRCm39) |
N238K |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,865,020 (GRCm39) |
V726A |
possibly damaging |
Het |
Chrna7 |
T |
C |
7: 62,755,895 (GRCm39) |
Y217C |
probably damaging |
Het |
Crocc |
T |
A |
4: 140,768,350 (GRCm39) |
T414S |
probably benign |
Het |
Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,158,744 (GRCm39) |
F620I |
possibly damaging |
Het |
Eogt |
A |
G |
6: 97,102,545 (GRCm39) |
L256P |
probably damaging |
Het |
F5 |
A |
G |
1: 164,039,397 (GRCm39) |
I2002M |
probably damaging |
Het |
Foxp1 |
A |
G |
6: 98,922,493 (GRCm39) |
|
probably null |
Het |
Fut8 |
A |
G |
12: 77,411,983 (GRCm39) |
D111G |
probably benign |
Het |
Golgb1 |
C |
T |
16: 36,719,051 (GRCm39) |
A319V |
probably benign |
Het |
Hoxd3 |
C |
T |
2: 74,576,716 (GRCm39) |
R39C |
probably damaging |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Or52b1 |
T |
A |
7: 104,978,731 (GRCm39) |
I223F |
probably damaging |
Het |
Pate8 |
T |
A |
9: 36,493,200 (GRCm39) |
N41Y |
probably benign |
Het |
Pcdhb2 |
A |
G |
18: 37,429,785 (GRCm39) |
Y586C |
probably damaging |
Het |
Plcd1 |
G |
A |
9: 118,903,519 (GRCm39) |
Q442* |
probably null |
Het |
Plppr5 |
A |
G |
3: 117,419,552 (GRCm39) |
T207A |
probably benign |
Het |
Pomt1 |
C |
A |
2: 32,144,341 (GRCm39) |
A709E |
probably benign |
Het |
Ptpn23 |
A |
G |
9: 110,214,506 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
T |
A |
7: 110,021,747 (GRCm39) |
K493* |
probably null |
Het |
Semp2l2a |
A |
G |
8: 13,886,844 (GRCm39) |
S416P |
possibly damaging |
Het |
Tmc2 |
A |
T |
2: 130,076,738 (GRCm39) |
S355C |
probably damaging |
Het |
Tonsl |
A |
G |
15: 76,520,857 (GRCm39) |
S399P |
possibly damaging |
Het |
Ttc14 |
T |
C |
3: 33,863,050 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,568,409 (GRCm39) |
S19168P |
probably damaging |
Het |
Usp17lb |
A |
T |
7: 104,490,685 (GRCm39) |
S80T |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,804,120 (GRCm39) |
I457V |
possibly damaging |
Het |
Wdr64 |
G |
T |
1: 175,553,979 (GRCm39) |
D170Y |
probably damaging |
Het |
Zbtb42 |
T |
C |
12: 112,645,948 (GRCm39) |
V41A |
probably damaging |
Het |
|
Other mutations in Prmt8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02122:Prmt8
|
APN |
6 |
127,667,680 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02178:Prmt8
|
APN |
6 |
127,674,770 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02526:Prmt8
|
APN |
6 |
127,688,786 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03010:Prmt8
|
APN |
6 |
127,706,498 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03037:Prmt8
|
APN |
6 |
127,680,940 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0096:Prmt8
|
UTSW |
6 |
127,709,590 (GRCm39) |
splice site |
probably benign |
|
R0254:Prmt8
|
UTSW |
6 |
127,688,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R0355:Prmt8
|
UTSW |
6 |
127,688,837 (GRCm39) |
nonsense |
probably null |
|
R0925:Prmt8
|
UTSW |
6 |
127,674,776 (GRCm39) |
missense |
probably benign |
0.00 |
R1606:Prmt8
|
UTSW |
6 |
127,666,799 (GRCm39) |
nonsense |
probably null |
|
R1716:Prmt8
|
UTSW |
6 |
127,703,486 (GRCm39) |
critical splice donor site |
probably null |
|
R3789:Prmt8
|
UTSW |
6 |
127,688,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R3790:Prmt8
|
UTSW |
6 |
127,688,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R3958:Prmt8
|
UTSW |
6 |
127,709,707 (GRCm39) |
missense |
probably benign |
0.00 |
R5022:Prmt8
|
UTSW |
6 |
127,688,126 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5635:Prmt8
|
UTSW |
6 |
127,745,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R5816:Prmt8
|
UTSW |
6 |
127,674,701 (GRCm39) |
missense |
probably benign |
0.09 |
R5959:Prmt8
|
UTSW |
6 |
127,706,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R6267:Prmt8
|
UTSW |
6 |
127,688,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R6296:Prmt8
|
UTSW |
6 |
127,688,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R6450:Prmt8
|
UTSW |
6 |
127,709,606 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6603:Prmt8
|
UTSW |
6 |
127,706,376 (GRCm39) |
missense |
probably benign |
0.00 |
R7208:Prmt8
|
UTSW |
6 |
127,666,792 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7629:Prmt8
|
UTSW |
6 |
127,666,846 (GRCm39) |
nonsense |
probably null |
|
R7719:Prmt8
|
UTSW |
6 |
127,706,466 (GRCm39) |
missense |
probably damaging |
0.97 |
R8313:Prmt8
|
UTSW |
6 |
127,666,813 (GRCm39) |
missense |
probably benign |
|
R8346:Prmt8
|
UTSW |
6 |
127,688,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R8404:Prmt8
|
UTSW |
6 |
127,666,825 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8483:Prmt8
|
UTSW |
6 |
127,680,976 (GRCm39) |
splice site |
probably null |
|
R8843:Prmt8
|
UTSW |
6 |
127,706,462 (GRCm39) |
missense |
probably damaging |
0.99 |
X0020:Prmt8
|
UTSW |
6 |
127,674,734 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTGGCCATACCTGCTCTG -3'
(R):5'- TAGGCCACTGTCAGTCACATGG -3'
Sequencing Primer
(F):5'- TGCTCTGCCACCTCTACAAAC -3'
(R):5'- CCACTGTCAGTCACATGGTTGAAAAG -3'
|
Posted On |
2016-06-21 |