Incidental Mutation 'R0003:Cnnm3'
| ID |
8241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnnm3
|
| Ensembl Gene |
ENSMUSG00000001138 |
| Gene Name |
cyclin M3 |
| Synonyms |
Acdp3 |
| MMRRC Submission |
038299-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R0003 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
36550948-36567318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36563124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 696
(V696A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001166]
[ENSMUST00000097776]
|
| AlphaFold |
Q32NY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001166
|
| SMART Domains |
Protein: ENSMUSP00000001166
Gene: ENSMUSG00000001138
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
Pfam:DUF21
|
142 |
295 |
3.2e-10 |
PFAM |
|
Blast:CBS
|
329 |
379 |
9e-12 |
BLAST |
|
Pfam:CBS
|
388 |
452 |
6.4e-6 |
PFAM |
|
Blast:cNMP
|
527 |
668 |
2e-38 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097776
AA Change: V696A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000095383
Gene: ENSMUSG00000001138
AA Change: V696A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
Pfam:DUF21
|
142 |
300 |
1e-19 |
PFAM |
|
Blast:CBS
|
329 |
379 |
9e-12 |
BLAST |
|
Pfam:CBS
|
388 |
452 |
5.1e-6 |
PFAM |
|
Blast:cNMP
|
527 |
668 |
1e-37 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195264
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 80.3%
- 3x: 68.0%
- 10x: 36.1%
- 20x: 15.3%
|
| Validation Efficiency |
36% (21/58) |
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
T |
C |
18: 80,174,205 (GRCm39) |
Y68C |
probably damaging |
Het |
| Arsi |
C |
T |
18: 61,050,058 (GRCm39) |
R314C |
probably benign |
Het |
| Decr2 |
A |
T |
17: 26,302,027 (GRCm39) |
N234K |
probably benign |
Het |
| Eprs1 |
T |
C |
1: 185,146,588 (GRCm39) |
V1206A |
probably damaging |
Het |
| Fmnl3 |
T |
C |
15: 99,219,013 (GRCm39) |
T807A |
probably damaging |
Het |
| Ints3 |
C |
A |
3: 90,315,818 (GRCm39) |
M315I |
probably benign |
Het |
| Lamc1 |
A |
C |
1: 153,138,185 (GRCm39) |
L223R |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,427,196 (GRCm39) |
L398P |
probably damaging |
Het |
| Mx1 |
A |
G |
16: 97,252,788 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,443,664 (GRCm39) |
G497S |
probably damaging |
Het |
| Or5t17 |
T |
A |
2: 86,832,710 (GRCm39) |
Y132* |
probably null |
Het |
| Or9q1 |
T |
C |
19: 13,805,050 (GRCm39) |
T237A |
probably damaging |
Het |
| Ptgdr2 |
G |
A |
19: 10,917,792 (GRCm39) |
C103Y |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,032,839 (GRCm39) |
Q965H |
probably damaging |
Het |
| Tfg |
T |
C |
16: 56,511,351 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,574,027 (GRCm39) |
D25622G |
probably damaging |
Het |
|
| Other mutations in Cnnm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Cnnm3
|
APN |
1 |
36,551,956 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02679:Cnnm3
|
APN |
1 |
36,559,239 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02700:Cnnm3
|
APN |
1 |
36,552,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03165:Cnnm3
|
APN |
1 |
36,564,313 (GRCm39) |
unclassified |
probably benign |
|
|
R0358:Cnnm3
|
UTSW |
1 |
36,560,303 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1129:Cnnm3
|
UTSW |
1 |
36,552,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1772:Cnnm3
|
UTSW |
1 |
36,558,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2929:Cnnm3
|
UTSW |
1 |
36,563,140 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3153:Cnnm3
|
UTSW |
1 |
36,560,303 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3154:Cnnm3
|
UTSW |
1 |
36,560,303 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5376:Cnnm3
|
UTSW |
1 |
36,559,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5810:Cnnm3
|
UTSW |
1 |
36,564,280 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6389:Cnnm3
|
UTSW |
1 |
36,559,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8288:Cnnm3
|
UTSW |
1 |
36,551,074 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8951:Cnnm3
|
UTSW |
1 |
36,558,019 (GRCm39) |
splice site |
probably benign |
|
|
R8959:Cnnm3
|
UTSW |
1 |
36,558,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Cnnm3
|
UTSW |
1 |
36,551,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9121:Cnnm3
|
UTSW |
1 |
36,563,158 (GRCm39) |
nonsense |
probably null |
|
|
X0064:Cnnm3
|
UTSW |
1 |
36,552,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cnnm3
|
UTSW |
1 |
36,552,114 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Posted On |
2012-11-20 |
Incidental Mutation