Incidental Mutation 'R1129:Cnnm3'
| ID |
96446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnnm3
|
| Ensembl Gene |
ENSMUSG00000001138 |
| Gene Name |
cyclin M3 |
| Synonyms |
Acdp3 |
| MMRRC Submission |
039202-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1129 (G1)
|
| Quality Score |
190 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36550948-36567318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36552097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 369
(L369P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001166]
[ENSMUST00000097776]
[ENSMUST00000153128]
|
| AlphaFold |
Q32NY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001166
AA Change: L369P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001166
Gene: ENSMUSG00000001138
AA Change: L369P
| 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 damaging
Transcript: ENSMUST00000097776
AA Change: L369P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095383
Gene: ENSMUSG00000001138
AA Change: L369P
| 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 |
probably benign
Transcript: ENSMUST00000153128
|
| SMART Domains |
Protein: ENSMUSP00000121317
Gene: ENSMUSG00000037408
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:DUF21
|
181 |
355 |
1.1e-35 |
PFAM |
|
SCOP:d1jr1a3
|
373 |
424 |
1e-3 |
SMART |
|
Blast:CBS
|
379 |
429 |
9e-13 |
BLAST |
|
Pfam:CBS
|
438 |
502 |
6.9e-4 |
PFAM |
|
Blast:cNMP
|
572 |
705 |
2e-72 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154225
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1 |
G |
C |
2: 179,814,712 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
A |
T |
2: 118,445,487 (GRCm39) |
D269V |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,822,535 (GRCm39) |
N828S |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,136,201 (GRCm39) |
S1152P |
unknown |
Het |
| Cxadr |
A |
G |
16: 78,133,321 (GRCm39) |
K360R |
probably benign |
Het |
| Dlg2 |
G |
A |
7: 92,080,382 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,238,635 (GRCm39) |
V3779A |
probably benign |
Het |
| Fbxo16 |
G |
A |
14: 65,532,981 (GRCm39) |
R161K |
probably benign |
Het |
| Gm9726 |
T |
A |
12: 93,895,300 (GRCm39) |
|
noncoding transcript |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,448,662 (GRCm39) |
T337A |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,744,226 (GRCm39) |
L1510S |
probably benign |
Het |
| Kansl2 |
T |
C |
15: 98,431,462 (GRCm39) |
Y63C |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,937,790 (GRCm39) |
E233G |
possibly damaging |
Het |
| Naca |
T |
C |
10: 127,876,071 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
G |
T |
19: 46,052,245 (GRCm39) |
A591S |
probably benign |
Het |
| Sbsn |
C |
T |
7: 30,452,865 (GRCm39) |
P627S |
probably benign |
Het |
| Sema6b |
T |
C |
17: 56,431,347 (GRCm39) |
E772G |
probably benign |
Het |
| Tmem33 |
A |
G |
5: 67,421,803 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
A |
G |
14: 123,180,565 (GRCm39) |
|
probably null |
Het |
| Ubqlnl |
A |
T |
7: 103,798,857 (GRCm39) |
H213Q |
probably damaging |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,331 (GRCm39) |
M43T |
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,712 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
A |
G |
8: 122,335,154 (GRCm39) |
|
probably benign |
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 |
|
|
R0003:Cnnm3
|
UTSW |
1 |
36,563,124 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0358:Cnnm3
|
UTSW |
1 |
36,560,303 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGCGACCTCAGCAAGGGAGTG -3'
(R):5'- CAGGGTAACCACCTTCCGATCCTC -3'
Sequencing Primer
(F):5'- AGCAAGGGAGTGCTGCG -3'
(R):5'- TTCCAAAGGTCATTCGCAGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation