Incidental Mutation 'R3107:Cnnm1'
| ID |
263647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnnm1
|
| Ensembl Gene |
ENSMUSG00000025189 |
| Gene Name |
cyclin M1 |
| Synonyms |
Acdp1 |
| MMRRC Submission |
040581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R3107 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
43428875-43485649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43430000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 373
(C373R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165311]
[ENSMUST00000223787]
|
| AlphaFold |
Q0GA42 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165311
AA Change: C373R
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131830
Gene: ENSMUSG00000025189
AA Change: C373R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
202 |
N/A |
INTRINSIC |
|
Pfam:DUF21
|
224 |
414 |
1.8e-27 |
PFAM |
|
Blast:CBS
|
438 |
489 |
2e-12 |
BLAST |
|
CBS
|
505 |
561 |
5.02e0 |
SMART |
|
Blast:cNMP
|
634 |
802 |
2e-44 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223787
AA Change: C373R
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225283
|
| Meta Mutation Damage Score |
0.4180 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
A |
T |
17: 42,977,758 (GRCm39) |
Y528* |
probably null |
Het |
| Ankrd26 |
A |
T |
6: 118,533,204 (GRCm39) |
F198L |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,911,652 (GRCm39) |
S607P |
possibly damaging |
Het |
| Brd10 |
A |
T |
19: 29,700,847 (GRCm39) |
L814H |
probably damaging |
Het |
| Ccdc17 |
T |
C |
4: 116,455,464 (GRCm39) |
V269A |
probably benign |
Het |
| Cers1 |
T |
A |
8: 70,775,286 (GRCm39) |
H233Q |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
| Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,485,452 (GRCm39) |
D1247G |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
| Ddt |
C |
T |
10: 75,608,597 (GRCm39) |
E42K |
probably benign |
Het |
| Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,392,033 (GRCm39) |
G3798E |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam114a2 |
C |
A |
11: 57,390,561 (GRCm39) |
K317N |
probably benign |
Het |
| Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
| Gprasp1 |
A |
T |
X: 134,700,508 (GRCm39) |
M234L |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,592,467 (GRCm39) |
Y997C |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,337,782 (GRCm39) |
V33A |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,998,041 (GRCm39) |
T23A |
possibly damaging |
Het |
| Itk |
C |
A |
11: 46,218,291 (GRCm39) |
G624V |
probably benign |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Mab21l3 |
T |
A |
3: 101,734,112 (GRCm39) |
I109F |
probably damaging |
Het |
| Mov10 |
T |
C |
3: 104,707,040 (GRCm39) |
E653G |
probably damaging |
Het |
| Or8b51 |
C |
T |
9: 38,569,307 (GRCm39) |
C127Y |
possibly damaging |
Het |
| Plg |
T |
C |
17: 12,603,316 (GRCm39) |
V74A |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
| Rbmxl2 |
G |
A |
7: 106,809,624 (GRCm39) |
G303E |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
| Serpina1a |
A |
T |
12: 103,820,100 (GRCm39) |
I382N |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,687,906 (GRCm39) |
Q11K |
probably benign |
Het |
| Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
| Sorcs1 |
T |
C |
19: 50,199,088 (GRCm39) |
E825G |
possibly damaging |
Het |
| Sval1 |
C |
G |
6: 41,932,876 (GRCm39) |
P145A |
probably damaging |
Het |
| Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,491 (GRCm39) |
D368V |
possibly damaging |
Het |
|
| Other mutations in Cnnm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01615:Cnnm1
|
APN |
19 |
43,460,375 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02370:Cnnm1
|
APN |
19 |
43,460,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0329:Cnnm1
|
UTSW |
19 |
43,430,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Cnnm1
|
UTSW |
19 |
43,456,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1417:Cnnm1
|
UTSW |
19 |
43,458,162 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1478:Cnnm1
|
UTSW |
19 |
43,460,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1743:Cnnm1
|
UTSW |
19 |
43,460,352 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2290:Cnnm1
|
UTSW |
19 |
43,479,941 (GRCm39) |
missense |
probably benign |
|
|
R2509:Cnnm1
|
UTSW |
19 |
43,430,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2910:Cnnm1
|
UTSW |
19 |
43,458,086 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R3109:Cnnm1
|
UTSW |
19 |
43,430,000 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3922:Cnnm1
|
UTSW |
19 |
43,428,884 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3923:Cnnm1
|
UTSW |
19 |
43,428,884 (GRCm39) |
start codon destroyed |
probably null |
|
|
R4804:Cnnm1
|
UTSW |
19 |
43,480,014 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5199:Cnnm1
|
UTSW |
19 |
43,483,425 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5347:Cnnm1
|
UTSW |
19 |
43,430,301 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5595:Cnnm1
|
UTSW |
19 |
43,453,596 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5964:Cnnm1
|
UTSW |
19 |
43,458,162 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5969:Cnnm1
|
UTSW |
19 |
43,479,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Cnnm1
|
UTSW |
19 |
43,453,705 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7072:Cnnm1
|
UTSW |
19 |
43,429,296 (GRCm39) |
missense |
probably benign |
|
|
R7092:Cnnm1
|
UTSW |
19 |
43,430,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7126:Cnnm1
|
UTSW |
19 |
43,473,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Cnnm1
|
UTSW |
19 |
43,456,710 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7445:Cnnm1
|
UTSW |
19 |
43,429,260 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8728:Cnnm1
|
UTSW |
19 |
43,473,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9108:Cnnm1
|
UTSW |
19 |
43,464,649 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9114:Cnnm1
|
UTSW |
19 |
43,429,395 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9131:Cnnm1
|
UTSW |
19 |
43,429,839 (GRCm39) |
missense |
probably benign |
|
|
R9232:Cnnm1
|
UTSW |
19 |
43,480,325 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9357:Cnnm1
|
UTSW |
19 |
43,429,827 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9690:Cnnm1
|
UTSW |
19 |
43,460,345 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9711:Cnnm1
|
UTSW |
19 |
43,483,469 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9792:Cnnm1
|
UTSW |
19 |
43,482,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTACGGGTGCTGCGGAA -3'
(R):5'- AGCGCAACATGAAGCAGTC -3'
Sequencing Primer
(F):5'- GGACCCATCTGCTCTGCAC -3'
(R):5'- CATGAAGCAGTCCCCTAGAGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation