Incidental Mutation 'R1328:Prmt9'
| ID |
157281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prmt9
|
| Ensembl Gene |
ENSMUSG00000037134 |
| Gene Name |
protein arginine methyltransferase 9 |
| Synonyms |
Prmt10 |
| MMRRC Submission |
039394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R1328 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
78276026-78307967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78299283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 659
(I659T)
|
| 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: I659T
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000050181
Gene: ENSMUSG00000037134
AA Change: I659T
| 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: I659T
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112692
Gene: ENSMUSG00000037134
AA Change: I659T
| 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
|
| Meta Mutation Damage Score |
0.1556 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
C |
T |
7: 43,906,516 (GRCm39) |
|
probably null |
Het |
| Bcap29 |
T |
C |
12: 31,680,807 (GRCm39) |
I60V |
probably benign |
Het |
| Ccdc71 |
T |
A |
9: 108,340,148 (GRCm39) |
|
probably benign |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,027,382 (GRCm39) |
V240E |
probably benign |
Het |
| Copa |
C |
T |
1: 171,949,258 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
G |
T |
9: 54,303,533 (GRCm39) |
Q2314K |
probably benign |
Het |
| Fam181b |
T |
C |
7: 92,729,437 (GRCm39) |
I70T |
probably damaging |
Het |
| Fbxl14 |
T |
C |
6: 119,457,347 (GRCm39) |
L176P |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,796 (GRCm39) |
F144L |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,438,612 (GRCm39) |
W169R |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,581,925 (GRCm39) |
V127A |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,468,802 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
C |
T |
15: 101,939,169 (GRCm39) |
A251V |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,644,617 (GRCm39) |
|
probably benign |
Het |
| Or6c202 |
A |
G |
10: 128,996,293 (GRCm39) |
S187P |
possibly damaging |
Het |
| Or9i14 |
G |
A |
19: 13,792,900 (GRCm39) |
T18I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,392 (GRCm39) |
Y481H |
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,533,046 (GRCm39) |
|
probably benign |
Het |
| Pou4f2 |
G |
A |
8: 79,162,759 (GRCm39) |
A92V |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,998,058 (GRCm39) |
L395P |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rrp36 |
T |
A |
17: 46,983,705 (GRCm39) |
K36* |
probably null |
Het |
| Sag |
G |
A |
1: 87,738,016 (GRCm39) |
|
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,450,240 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Sox13 |
T |
C |
1: 133,311,555 (GRCm39) |
D559G |
probably damaging |
Het |
| Srd5a1 |
T |
A |
13: 69,723,310 (GRCm39) |
Y236F |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,692,657 (GRCm39) |
I570F |
possibly damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,805,859 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,260,913 (GRCm39) |
T1064A |
possibly damaging |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,278 (GRCm39) |
S110P |
possibly damaging |
Het |
| Vmn2r118 |
C |
A |
17: 55,915,620 (GRCm39) |
M443I |
probably benign |
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 |
|
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 |
|
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'- GCCGGAACACTTGGTCATGTTAAAC -3'
(R):5'- CCATTCAGAGCTGCTGTGAAGACTC -3'
Sequencing Primer
(F):5'- GTTAAACCCTACAGTTCAGTGGAG -3'
(R):5'- ccaggtgagggcaacag -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation