Incidental Mutation 'R5376:Cnnm3'
| ID |
425547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnnm3
|
| Ensembl Gene |
ENSMUSG00000001138 |
| Gene Name |
cyclin M3 |
| Synonyms |
Acdp3 |
| MMRRC Submission |
042952-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36550948-36567318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36559759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 566
(L566H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001166]
[ENSMUST00000097776]
|
| AlphaFold |
Q32NY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001166
AA Change: L566H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001166
Gene: ENSMUSG00000001138
AA Change: L566H
| 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: L566H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095383
Gene: ENSMUSG00000001138
AA Change: L566H
| 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: ENSMUST00000195264
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
C |
11: 119,902,860 (GRCm39) |
S512W |
probably damaging |
Het |
| Abcc2 |
A |
T |
19: 43,818,339 (GRCm39) |
N1275I |
possibly damaging |
Het |
| Adgb |
T |
C |
10: 10,222,307 (GRCm39) |
T1455A |
probably benign |
Het |
| Coa8 |
A |
G |
12: 111,696,492 (GRCm39) |
D142G |
probably damaging |
Het |
| Dennd4b |
C |
T |
3: 90,185,363 (GRCm39) |
P1229L |
probably benign |
Het |
| Dsc1 |
T |
G |
18: 20,221,503 (GRCm39) |
K657N |
probably benign |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Eef1d |
G |
T |
15: 75,775,038 (GRCm39) |
T207N |
probably benign |
Het |
| Eif4g1 |
T |
A |
16: 20,502,577 (GRCm39) |
Y955N |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,260,770 (GRCm39) |
T1016A |
probably damaging |
Het |
| Fcrl6 |
G |
A |
1: 172,426,847 (GRCm39) |
T33M |
probably damaging |
Het |
| Golga3 |
T |
C |
5: 110,368,811 (GRCm39) |
|
probably null |
Het |
| Gpbp1 |
T |
C |
13: 111,563,176 (GRCm39) |
N425D |
probably damaging |
Het |
| Igkv12-46 |
A |
C |
6: 69,741,520 (GRCm39) |
W112G |
probably benign |
Het |
| Kdelr3 |
T |
A |
15: 79,410,061 (GRCm39) |
V182E |
possibly damaging |
Het |
| Kif15 |
T |
A |
9: 122,823,036 (GRCm39) |
N700K |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,479,868 (GRCm39) |
L1169* |
probably null |
Het |
| Myof |
A |
G |
19: 37,904,848 (GRCm39) |
Y905H |
probably damaging |
Het |
| Or10h1b |
A |
T |
17: 33,395,621 (GRCm39) |
I82F |
probably damaging |
Het |
| Or52e5 |
A |
T |
7: 104,719,564 (GRCm39) |
T297S |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,762 (GRCm39) |
M257L |
possibly damaging |
Het |
| Otud7b |
T |
A |
3: 96,060,841 (GRCm39) |
|
probably null |
Het |
| Pde4d |
T |
C |
13: 109,909,178 (GRCm39) |
C197R |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,162,654 (GRCm39) |
T823A |
probably benign |
Het |
| Plekha5 |
C |
T |
6: 140,496,870 (GRCm39) |
T140M |
probably damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,062,094 (GRCm39) |
R594W |
probably damaging |
Het |
| Potefam1 |
T |
C |
2: 111,045,944 (GRCm39) |
D286G |
probably benign |
Het |
| Ppp2r1b |
C |
T |
9: 50,778,228 (GRCm39) |
A315V |
possibly damaging |
Het |
| Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
| Psg26 |
A |
T |
7: 18,214,030 (GRCm39) |
S211T |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGT |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc5a9 |
A |
T |
4: 111,750,414 (GRCm39) |
V148E |
possibly damaging |
Het |
| Spmip9 |
C |
A |
6: 70,890,466 (GRCm39) |
A109S |
possibly damaging |
Het |
| Txndc15 |
T |
G |
13: 55,866,032 (GRCm39) |
N165K |
probably damaging |
Het |
| Zfp493 |
T |
C |
13: 67,934,437 (GRCm39) |
I130T |
possibly 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 |
|
|
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 |
|
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 |
|
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'- TGATGACAGGCCATTTGGG -3'
(R):5'- CTCCATAGTACGTGAAGGCC -3'
Sequencing Primer
(F):5'- ATTTGGGCCCCAGTGGAC -3'
(R):5'- ATAGTACGTGAAGGCCCCGTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation