Incidental Mutation 'R7959:Prmt9'
| ID |
650005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt9
|
| Ensembl Gene |
ENSMUSG00000037134 |
| Gene Name |
protein arginine methyltransferase 9 |
| Synonyms |
Prmt10 |
| MMRRC Submission |
046003-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R7959 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
78276026-78307967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78287594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 245
(I245N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056237]
[ENSMUST00000118622]
[ENSMUST00000210040]
|
| AlphaFold |
Q3U3W5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056237
AA Change: I245N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000050181
Gene: ENSMUSG00000037134
AA Change: I245N
| 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 |
probably damaging
Transcript: ENSMUST00000118622
AA Change: I245N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112692
Gene: ENSMUSG00000037134
AA Change: I245N
| 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 |
probably damaging
Transcript: ENSMUST00000210040
AA Change: I245N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,988,013 (GRCm39) |
V3099A |
possibly damaging |
Het |
| Apba2 |
A |
G |
7: 64,345,571 (GRCm39) |
M254V |
probably benign |
Het |
| Bbs7 |
C |
T |
3: 36,657,085 (GRCm39) |
D248N |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,096,728 (GRCm39) |
I1457V |
probably benign |
Het |
| Cldn8 |
A |
G |
16: 88,359,829 (GRCm39) |
V32A |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,484,780 (GRCm39) |
P496T |
unknown |
Het |
| Cyp27a1 |
T |
A |
1: 74,776,236 (GRCm39) |
N417K |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,682,621 (GRCm39) |
D283G |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,933,627 (GRCm39) |
K4878E |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,774,737 (GRCm39) |
M746K |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,195,967 (GRCm39) |
Y556N |
unknown |
Het |
| Fsip2 |
T |
C |
2: 82,816,120 (GRCm39) |
I3951T |
possibly damaging |
Het |
| Gigyf1 |
C |
T |
5: 137,522,581 (GRCm39) |
T773I |
probably damaging |
Het |
| Heatr6 |
A |
T |
11: 83,672,189 (GRCm39) |
K1066* |
probably null |
Het |
| Mdfic |
T |
C |
6: 15,741,070 (GRCm39) |
S142P |
possibly damaging |
Het |
| Mettl16 |
A |
G |
11: 74,707,852 (GRCm39) |
I389V |
probably benign |
Het |
| Mia3 |
T |
C |
1: 183,125,760 (GRCm39) |
Y57C |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,544,239 (GRCm39) |
|
probably null |
Het |
| Or1e1 |
T |
C |
11: 73,244,744 (GRCm39) |
L55P |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,586,602 (GRCm39) |
*313W |
probably null |
Het |
| Or52a24 |
T |
A |
7: 103,382,015 (GRCm39) |
V294D |
probably damaging |
Het |
| Or8b1b |
T |
A |
9: 38,376,211 (GRCm39) |
S291R |
probably damaging |
Het |
| Or9s13 |
T |
A |
1: 92,548,029 (GRCm39) |
C134S |
probably damaging |
Het |
| Pierce1 |
A |
T |
2: 28,352,369 (GRCm39) |
N131K |
probably damaging |
Het |
| Plcxd1 |
A |
T |
5: 110,251,422 (GRCm39) |
I333F |
probably damaging |
Het |
| Plxna2 |
C |
A |
1: 194,493,270 (GRCm39) |
S1848R |
probably damaging |
Het |
| Plxna2 |
AT |
A |
1: 194,476,172 (GRCm39) |
|
probably null |
Het |
| Pnpla2 |
T |
A |
7: 141,037,406 (GRCm39) |
D136E |
probably benign |
Het |
| Polr1b |
T |
A |
2: 128,950,014 (GRCm39) |
F245I |
probably damaging |
Het |
| Serhl |
A |
T |
15: 82,986,073 (GRCm39) |
D62V |
probably damaging |
Het |
| Sh3rf3 |
A |
T |
10: 58,842,925 (GRCm39) |
D297V |
probably damaging |
Het |
| Spata13 |
C |
T |
14: 60,993,679 (GRCm39) |
R1044* |
probably null |
Het |
| Strbp |
G |
A |
2: 37,530,906 (GRCm39) |
T116I |
probably benign |
Het |
| Supt5 |
T |
C |
7: 28,015,224 (GRCm39) |
D977G |
probably benign |
Het |
| Tmem184c |
A |
G |
8: 78,329,532 (GRCm39) |
V176A |
possibly damaging |
Het |
| Uhrf2 |
A |
G |
19: 30,063,660 (GRCm39) |
N541S |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,755,949 (GRCm39) |
F7Y |
possibly damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,169,040 (GRCm39) |
R697G |
probably benign |
Het |
| Zfp994 |
A |
G |
17: 22,421,761 (GRCm39) |
V18A |
probably damaging |
Het |
|
| Other mutations in Prmt9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01801:Prmt9
|
APN |
8 |
78,289,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02306:Prmt9
|
APN |
8 |
78,287,447 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02971:Prmt9
|
APN |
8 |
78,291,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
1mM(1):Prmt9
|
UTSW |
8 |
78,282,393 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0004:Prmt9
|
UTSW |
8 |
78,282,411 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0928:Prmt9
|
UTSW |
8 |
78,307,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1328:Prmt9
|
UTSW |
8 |
78,299,283 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1777:Prmt9
|
UTSW |
8 |
78,291,737 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1826:Prmt9
|
UTSW |
8 |
78,282,303 (GRCm39) |
nonsense |
probably null |
|
|
R1925:Prmt9
|
UTSW |
8 |
78,303,968 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3855:Prmt9
|
UTSW |
8 |
78,294,894 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3856:Prmt9
|
UTSW |
8 |
78,294,894 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4089:Prmt9
|
UTSW |
8 |
78,299,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4963:Prmt9
|
UTSW |
8 |
78,282,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Prmt9
|
UTSW |
8 |
78,291,626 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5413:Prmt9
|
UTSW |
8 |
78,298,638 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5975:Prmt9
|
UTSW |
8 |
78,287,647 (GRCm39) |
intron |
probably benign |
|
|
R6271:Prmt9
|
UTSW |
8 |
78,304,092 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7023:Prmt9
|
UTSW |
8 |
78,276,086 (GRCm39) |
start gained |
probably benign |
|
|
R7107:Prmt9
|
UTSW |
8 |
78,294,880 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7159:Prmt9
|
UTSW |
8 |
78,282,393 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7209:Prmt9
|
UTSW |
8 |
78,291,627 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7770:Prmt9
|
UTSW |
8 |
78,285,814 (GRCm39) |
splice site |
probably null |
|
|
R7819:Prmt9
|
UTSW |
8 |
78,294,973 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9106:Prmt9
|
UTSW |
8 |
78,276,358 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9301:Prmt9
|
UTSW |
8 |
78,282,374 (GRCm39) |
nonsense |
probably null |
|
|
R9368:Prmt9
|
UTSW |
8 |
78,285,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9665:Prmt9
|
UTSW |
8 |
78,307,267 (GRCm39) |
missense |
probably benign |
0.18 |
|
X0027:Prmt9
|
UTSW |
8 |
78,287,512 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGATCCCATGTTTTAAGCATCTT -3'
(R):5'- AAAGGAGCATTTCTCACTATCAATT -3'
Sequencing Primer
(F):5'- TGTATGAACTCGCCTGTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation