Incidental Mutation 'R4504:Carm1'
| ID |
331930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carm1
|
| Ensembl Gene |
ENSMUSG00000032185 |
| Gene Name |
coactivator-associated arginine methyltransferase 1 |
| Synonyms |
m9Bei, Prmt4 |
| MMRRC Submission |
041755-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4504 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21458163-21500763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21480822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 99
(F99L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034703]
[ENSMUST00000115394]
[ENSMUST00000115395]
[ENSMUST00000130032]
|
| AlphaFold |
Q9WVG6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034703
AA Change: F99L
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185
AA Change: F99L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARM1
|
27 |
140 |
2.1e-71 |
PFAM |
|
Pfam:PRMT5
|
144 |
447 |
2.3e-16 |
PFAM |
|
Pfam:MTS
|
166 |
308 |
2.7e-10 |
PFAM |
|
Pfam:Methyltransf_9
|
168 |
318 |
1.1e-9 |
PFAM |
|
Pfam:PrmA
|
173 |
287 |
2.2e-12 |
PFAM |
|
Pfam:Methyltransf_31
|
183 |
325 |
7.4e-11 |
PFAM |
|
Pfam:Methyltransf_18
|
185 |
290 |
5.1e-12 |
PFAM |
|
Pfam:Methyltransf_26
|
186 |
287 |
5.3e-10 |
PFAM |
|
Pfam:Methyltransf_11
|
190 |
287 |
8.5e-7 |
PFAM |
|
low complexity region
|
477 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115394
AA Change: F99L
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185
AA Change: F99L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARM1
|
29 |
140 |
4.7e-63 |
PFAM |
|
Pfam:PRMT5
|
145 |
447 |
4.1e-16 |
PFAM |
|
Pfam:Methyltransf_9
|
168 |
318 |
1.4e-9 |
PFAM |
|
Pfam:MTS
|
170 |
299 |
2.5e-9 |
PFAM |
|
Pfam:PrmA
|
175 |
287 |
3.7e-12 |
PFAM |
|
Pfam:Methyltransf_31
|
183 |
326 |
1.9e-10 |
PFAM |
|
Pfam:Methyltransf_18
|
185 |
290 |
4e-9 |
PFAM |
|
Pfam:Methyltransf_11
|
190 |
287 |
6.5e-7 |
PFAM |
|
low complexity region
|
477 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
619 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115395
AA Change: F99L
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185
AA Change: F99L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARM1
|
27 |
140 |
2e-71 |
PFAM |
|
Pfam:PRMT5
|
144 |
447 |
2.1e-16 |
PFAM |
|
Pfam:MTS
|
166 |
308 |
2.6e-10 |
PFAM |
|
Pfam:Methyltransf_9
|
168 |
318 |
1.1e-9 |
PFAM |
|
Pfam:PrmA
|
172 |
287 |
2.1e-12 |
PFAM |
|
Pfam:Methyltransf_31
|
183 |
326 |
6.9e-11 |
PFAM |
|
Pfam:Methyltransf_18
|
185 |
290 |
4.8e-12 |
PFAM |
|
Pfam:Methyltransf_26
|
186 |
287 |
5e-10 |
PFAM |
|
Pfam:Methyltransf_11
|
190 |
287 |
8.1e-7 |
PFAM |
|
low complexity region
|
477 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
553 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130032
AA Change: F99L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117243
Gene: ENSMUSG00000032185
AA Change: F99L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARM1
|
27 |
140 |
2.8e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147749
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154049
|
| Meta Mutation Damage Score |
0.1548 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null fetuses are small and die perinatally, whereas heterozygotes are born at the expected Mendelian ratio but show decreased survival through weaning. Mice homozygous for a kinase null allele exhibit neonatal lethality, arrested T cell development, and impaired adipogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
G |
14: 44,407,899 (GRCm39) |
S45P |
probably damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,961,802 (GRCm39) |
R1124C |
possibly damaging |
Het |
| Anxa13 |
T |
C |
15: 58,228,052 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap32 |
C |
A |
9: 32,093,135 (GRCm39) |
|
probably null |
Het |
| Dennd1b |
A |
G |
1: 139,013,665 (GRCm39) |
E253G |
possibly damaging |
Het |
| Dsg4 |
A |
G |
18: 20,594,493 (GRCm39) |
I541V |
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,362,127 (GRCm39) |
T186A |
possibly damaging |
Het |
| Ear1 |
A |
T |
14: 44,056,721 (GRCm39) |
V49D |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Fndc8 |
T |
A |
11: 82,783,226 (GRCm39) |
M69K |
probably benign |
Het |
| Golga1 |
T |
C |
2: 38,913,466 (GRCm39) |
I482V |
probably benign |
Het |
| Hivep3 |
G |
A |
4: 119,590,990 (GRCm39) |
|
probably benign |
Het |
| Igkv13-85 |
A |
G |
6: 68,907,356 (GRCm39) |
F82L |
probably damaging |
Het |
| Itih1 |
G |
A |
14: 30,657,842 (GRCm39) |
R410C |
probably damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,291,699 (GRCm39) |
W296R |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 65,867,191 (GRCm39) |
Y817* |
probably null |
Het |
| Kif3b |
T |
C |
2: 153,165,564 (GRCm39) |
|
probably null |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,189 (GRCm39) |
V1022A |
probably benign |
Het |
| Npc1l1 |
A |
G |
11: 6,178,741 (GRCm39) |
L223S |
possibly damaging |
Het |
| Or11m3 |
T |
C |
15: 98,396,015 (GRCm39) |
F221L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,353,690 (GRCm39) |
D281G |
possibly damaging |
Het |
| Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,429,319 (GRCm39) |
C1553Y |
probably damaging |
Het |
| Pdgfc |
A |
C |
3: 81,082,298 (GRCm39) |
M164L |
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,333,880 (GRCm39) |
Y47C |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,150,945 (GRCm39) |
I633N |
probably damaging |
Het |
| Pkn1 |
G |
A |
8: 84,419,556 (GRCm39) |
R16* |
probably null |
Het |
| Pole2 |
A |
G |
12: 69,269,242 (GRCm39) |
V85A |
probably benign |
Het |
| Ppp4c |
A |
C |
7: 126,386,637 (GRCm39) |
L150R |
probably damaging |
Het |
| Pramel25 |
G |
C |
4: 143,520,553 (GRCm39) |
E102Q |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Rnf144a |
T |
A |
12: 26,377,302 (GRCm39) |
R92S |
probably benign |
Het |
| Sbno2 |
C |
A |
10: 79,896,326 (GRCm39) |
R898L |
possibly damaging |
Het |
| Scnn1b |
A |
C |
7: 121,511,698 (GRCm39) |
N370T |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,672,866 (GRCm39) |
E1302G |
possibly damaging |
Het |
|
| Other mutations in Carm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00981:Carm1
|
APN |
9 |
21,498,490 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01360:Carm1
|
APN |
9 |
21,498,598 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01401:Carm1
|
APN |
9 |
21,480,878 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02218:Carm1
|
APN |
9 |
21,480,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02436:Carm1
|
APN |
9 |
21,490,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02601:Carm1
|
APN |
9 |
21,498,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Carm1
|
UTSW |
9 |
21,491,787 (GRCm39) |
splice site |
probably null |
|
|
R0580:Carm1
|
UTSW |
9 |
21,494,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0724:Carm1
|
UTSW |
9 |
21,498,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Carm1
|
UTSW |
9 |
21,480,887 (GRCm39) |
splice site |
probably benign |
|
|
R1390:Carm1
|
UTSW |
9 |
21,490,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Carm1
|
UTSW |
9 |
21,497,785 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1950:Carm1
|
UTSW |
9 |
21,485,812 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1960:Carm1
|
UTSW |
9 |
21,491,606 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2402:Carm1
|
UTSW |
9 |
21,494,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:Carm1
|
UTSW |
9 |
21,486,708 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2520:Carm1
|
UTSW |
9 |
21,494,893 (GRCm39) |
splice site |
probably null |
|
|
R2939:Carm1
|
UTSW |
9 |
21,490,692 (GRCm39) |
splice site |
probably null |
|
|
R2940:Carm1
|
UTSW |
9 |
21,490,692 (GRCm39) |
splice site |
probably null |
|
|
R3081:Carm1
|
UTSW |
9 |
21,490,692 (GRCm39) |
splice site |
probably null |
|
|
R3407:Carm1
|
UTSW |
9 |
21,497,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3434:Carm1
|
UTSW |
9 |
21,480,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Carm1
|
UTSW |
9 |
21,498,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Carm1
|
UTSW |
9 |
21,498,480 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5019:Carm1
|
UTSW |
9 |
21,490,807 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5362:Carm1
|
UTSW |
9 |
21,498,655 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5661:Carm1
|
UTSW |
9 |
21,498,295 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5730:Carm1
|
UTSW |
9 |
21,491,636 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5913:Carm1
|
UTSW |
9 |
21,498,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5928:Carm1
|
UTSW |
9 |
21,486,598 (GRCm39) |
intron |
probably benign |
|
|
R6370:Carm1
|
UTSW |
9 |
21,498,815 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6431:Carm1
|
UTSW |
9 |
21,494,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6555:Carm1
|
UTSW |
9 |
21,498,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Carm1
|
UTSW |
9 |
21,458,323 (GRCm39) |
missense |
unknown |
|
|
R7235:Carm1
|
UTSW |
9 |
21,498,701 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7249:Carm1
|
UTSW |
9 |
21,497,505 (GRCm39) |
missense |
probably benign |
|
|
R7576:Carm1
|
UTSW |
9 |
21,497,832 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7650:Carm1
|
UTSW |
9 |
21,491,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7664:Carm1
|
UTSW |
9 |
21,498,286 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8359:Carm1
|
UTSW |
9 |
21,480,765 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8683:Carm1
|
UTSW |
9 |
21,497,464 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8690:Carm1
|
UTSW |
9 |
21,480,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Carm1
|
UTSW |
9 |
21,491,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:Carm1
|
UTSW |
9 |
21,491,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Carm1
|
UTSW |
9 |
21,497,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8950:Carm1
|
UTSW |
9 |
21,490,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:Carm1
|
UTSW |
9 |
21,494,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9399:Carm1
|
UTSW |
9 |
21,486,791 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAAGAATCTAGAGATGCCAGA -3'
(R):5'- GCATTGGGAATATGCAAGTGC -3'
Sequencing Primer
(F):5'- TCTAGAGATGCCAGAAGGATGG -3'
(R):5'- AAACACATACCGTGGGGT -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation