Incidental Mutation 'R1417:Cnnm1'
| ID |
159879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnnm1
|
| Ensembl Gene |
ENSMUSG00000025189 |
| Gene Name |
cyclin M1 |
| Synonyms |
Acdp1 |
| MMRRC Submission |
039473-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R1417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
43428875-43485649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43458162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 658
(E658G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165311]
[ENSMUST00000223787]
|
| AlphaFold |
Q0GA42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165311
AA Change: E658G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000131830
Gene: ENSMUSG00000025189
AA Change: E658G
| 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 benign
Transcript: ENSMUST00000223787
AA Change: E658G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225421
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.8%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
A |
G |
16: 29,117,053 (GRCm39) |
V565A |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,730,862 (GRCm39) |
S196P |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
| Clu |
T |
A |
14: 66,212,420 (GRCm39) |
Y124* |
probably null |
Het |
| Dnah9 |
T |
C |
11: 65,846,573 (GRCm39) |
E2913G |
probably damaging |
Het |
| Edc4 |
G |
A |
8: 106,614,487 (GRCm39) |
|
probably null |
Het |
| Enox1 |
C |
T |
14: 77,723,445 (GRCm39) |
|
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,053,312 (GRCm39) |
V122A |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,652 (GRCm39) |
S453G |
possibly damaging |
Het |
| Gm12185 |
A |
C |
11: 48,798,669 (GRCm39) |
V608G |
probably damaging |
Het |
| Hbq1a |
A |
G |
11: 32,250,722 (GRCm39) |
D135G |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,244,947 (GRCm39) |
T891A |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,413,993 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Ipo8 |
C |
T |
6: 148,719,550 (GRCm39) |
D132N |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,363,115 (GRCm39) |
E147G |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,764,311 (GRCm39) |
V41D |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,894,653 (GRCm39) |
I2306V |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,636,425 (GRCm39) |
V1514A |
probably benign |
Het |
| Lrrtm2 |
A |
T |
18: 35,347,011 (GRCm39) |
I97N |
probably damaging |
Het |
| Mtmr3 |
C |
A |
11: 4,437,923 (GRCm39) |
V844L |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,197,011 (GRCm39) |
E1832G |
probably damaging |
Het |
| Or4n5 |
T |
A |
14: 50,133,020 (GRCm39) |
R80* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,180 (GRCm39) |
T47A |
probably benign |
Het |
| Pfkp |
T |
C |
13: 6,655,755 (GRCm39) |
K293E |
probably benign |
Het |
| Phlpp2 |
G |
T |
8: 110,667,313 (GRCm39) |
E1281* |
probably null |
Het |
| Prss23 |
T |
A |
7: 89,159,392 (GRCm39) |
T226S |
probably damaging |
Het |
| Slc8a1 |
T |
G |
17: 81,715,709 (GRCm39) |
M775L |
probably damaging |
Het |
| Stx12 |
A |
G |
4: 132,587,853 (GRCm39) |
|
probably null |
Het |
| Syt11 |
A |
T |
3: 88,669,289 (GRCm39) |
I201N |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,783,327 (GRCm39) |
N543S |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,037,812 (GRCm39) |
N764S |
probably benign |
Het |
| Xylb |
A |
G |
9: 119,193,606 (GRCm39) |
D100G |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,500,284 (GRCm39) |
|
probably null |
Het |
| Zkscan16 |
T |
C |
4: 58,952,377 (GRCm39) |
V225A |
probably benign |
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 |
|
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 |
|
R3107:Cnnm1
|
UTSW |
19 |
43,430,000 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- TGAAACCCCAGATGCTGCACTC -3'
(R):5'- AACATGCAGGCTTCTTACTGTCCC -3'
Sequencing Primer
(F):5'- AGATGCTGCACTCGCCTC -3'
(R):5'- GGGATACCACTCTTACATGCCTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation