Incidental Mutation 'R5413:Prmt9'
ID |
501034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prmt9
|
Ensembl Gene |
ENSMUSG00000037134 |
Gene Name |
protein arginine methyltransferase 9 |
Synonyms |
Prmt10 |
MMRRC Submission |
042982-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
R5413 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
78276026-78307967 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 78298638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 444
(D444V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056237]
[ENSMUST00000118622]
[ENSMUST00000210040]
|
AlphaFold |
Q3U3W5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056237
AA Change: D444V
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000050181 Gene: ENSMUSG00000037134 AA Change: D444V
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: D444V
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112692 Gene: ENSMUSG00000037134 AA Change: D444V
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: ENSMUST00000157125
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209267
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210040
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
T |
A |
11: 48,911,204 (GRCm39) |
T410S |
possibly damaging |
Het |
Adamts3 |
A |
G |
5: 89,856,626 (GRCm39) |
S316P |
probably damaging |
Het |
Angptl3 |
A |
T |
4: 98,919,259 (GRCm39) |
L6F |
probably benign |
Het |
Clint1 |
T |
C |
11: 45,777,307 (GRCm39) |
V98A |
probably damaging |
Het |
Clk2 |
A |
G |
3: 89,080,785 (GRCm39) |
N258S |
probably benign |
Het |
Col18a1 |
T |
C |
10: 76,905,310 (GRCm39) |
D723G |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,701,831 (GRCm39) |
W1751R |
probably damaging |
Het |
Daam1 |
C |
A |
12: 71,993,066 (GRCm39) |
L352M |
unknown |
Het |
Dennd2a |
A |
T |
6: 39,441,227 (GRCm39) |
F964I |
probably damaging |
Het |
Dock5 |
A |
G |
14: 68,002,104 (GRCm39) |
L1622P |
probably damaging |
Het |
Dpy19l4 |
A |
G |
4: 11,289,700 (GRCm39) |
L195P |
probably damaging |
Het |
Esp24 |
A |
C |
17: 39,350,893 (GRCm39) |
E31A |
possibly damaging |
Het |
Fars2 |
T |
A |
13: 36,388,545 (GRCm39) |
Y11* |
probably null |
Het |
Fbxl16 |
C |
A |
17: 26,035,817 (GRCm39) |
T138K |
possibly damaging |
Het |
Frmpd1 |
A |
G |
4: 45,249,196 (GRCm39) |
I129V |
probably benign |
Het |
Gria1 |
A |
G |
11: 57,108,620 (GRCm39) |
N241S |
probably benign |
Het |
Homer1 |
A |
G |
13: 93,528,287 (GRCm39) |
E274G |
probably benign |
Het |
Igdcc3 |
T |
C |
9: 65,084,797 (GRCm39) |
V189A |
possibly damaging |
Het |
Igkv12-98 |
A |
G |
6: 68,548,078 (GRCm39) |
Y68C |
possibly damaging |
Het |
Igkv3-3 |
G |
C |
6: 70,664,414 (GRCm39) |
R85S |
probably damaging |
Het |
Ldha |
A |
G |
7: 46,500,320 (GRCm39) |
T144A |
possibly damaging |
Het |
Lrp1 |
A |
G |
10: 127,423,936 (GRCm39) |
|
probably null |
Het |
Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
Or14c44 |
A |
G |
7: 86,061,675 (GRCm39) |
Y35C |
probably benign |
Het |
Or2n1d |
G |
T |
17: 38,646,515 (GRCm39) |
A156S |
probably benign |
Het |
Or2y1b |
A |
T |
11: 49,209,240 (GRCm39) |
Y289F |
probably damaging |
Het |
Or6b13 |
A |
T |
7: 139,782,635 (GRCm39) |
V16E |
possibly damaging |
Het |
Osbp |
T |
C |
19: 11,961,855 (GRCm39) |
Y551H |
probably damaging |
Het |
Paf1 |
T |
C |
7: 28,096,040 (GRCm39) |
M249T |
possibly damaging |
Het |
Pcsk2 |
T |
C |
2: 143,538,620 (GRCm39) |
|
probably null |
Het |
Piwil1 |
G |
A |
5: 128,820,944 (GRCm39) |
V290I |
possibly damaging |
Het |
Rapgef2 |
T |
C |
3: 78,995,173 (GRCm39) |
D677G |
probably damaging |
Het |
Tmem59 |
A |
G |
4: 107,057,659 (GRCm39) |
E237G |
probably benign |
Het |
Trpm5 |
A |
T |
7: 142,634,705 (GRCm39) |
I664N |
probably damaging |
Het |
Unc13b |
G |
A |
4: 43,257,936 (GRCm39) |
|
probably null |
Het |
Usp17lc |
C |
A |
7: 103,067,763 (GRCm39) |
Q353K |
probably benign |
Het |
Uvssa |
G |
A |
5: 33,568,252 (GRCm39) |
V547M |
probably damaging |
Het |
Vdac1 |
G |
T |
11: 52,265,794 (GRCm39) |
L52F |
probably null |
Het |
Vmn2r14 |
T |
A |
5: 109,369,154 (GRCm39) |
I140L |
probably benign |
Het |
Wnt3a |
A |
G |
11: 59,166,182 (GRCm39) |
S33P |
probably benign |
Het |
Wwp2 |
T |
A |
8: 108,281,710 (GRCm39) |
Y300N |
probably damaging |
Het |
Zwilch |
T |
A |
9: 64,075,892 (GRCm39) |
|
probably null |
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 |
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 |
R7959:Prmt9
|
UTSW |
8 |
78,287,594 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GATGGGCCAGATAAACTCTTTCC -3'
(R):5'- CACTACAGAGTTCAGCTTCATTTCC -3'
Sequencing Primer
(F):5'- GGGCCAGATAAACTCTTTCCTTTCC -3'
(R):5'- CAGAGTTCAGCTTCATTTCCTAGAG -3'
|
Posted On |
2017-12-01 |