Incidental Mutation 'R2986:Cnnm4'
| ID |
257794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnnm4
|
| Ensembl Gene |
ENSMUSG00000037408 |
| Gene Name |
cyclin M4 |
| Synonyms |
Acdp4, 5430430O18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R2986 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36510701-36547845 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36511453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 227
(R227H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000153128]
|
| AlphaFold |
Q69ZF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153128
AA Change: R227H
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121317
Gene: ENSMUSG00000037408
AA Change: R227H
| 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: ENSMUST00000192530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193157
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 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 containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mutants exhibit hypomagnesemia and defective amelogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI661453 |
T |
A |
17: 47,777,697 (GRCm39) |
C474* |
probably null |
Het |
| Arhgap18 |
A |
G |
10: 26,730,903 (GRCm39) |
T122A |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Bbs4 |
A |
G |
9: 59,248,478 (GRCm39) |
L75P |
probably damaging |
Het |
| Bltp3b |
T |
A |
10: 89,641,931 (GRCm39) |
V1034E |
probably benign |
Het |
| Cenpl |
C |
T |
1: 160,911,037 (GRCm39) |
|
probably benign |
Het |
| Dipk2a |
C |
A |
9: 94,402,570 (GRCm39) |
C364F |
probably damaging |
Het |
| Eif4g2 |
T |
C |
7: 110,677,690 (GRCm39) |
E141G |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,903,424 (GRCm39) |
C3024R |
probably damaging |
Het |
| Gss |
T |
C |
2: 155,429,363 (GRCm39) |
D43G |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,251,010 (GRCm39) |
D824V |
probably damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,727,221 (GRCm39) |
D116N |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 55,551,142 (GRCm39) |
D190G |
probably benign |
Het |
| Ttll11 |
G |
A |
2: 35,707,750 (GRCm39) |
S519L |
probably benign |
Het |
| Wdr49 |
T |
C |
3: 75,289,347 (GRCm39) |
M184V |
probably benign |
Het |
| Zfp384 |
T |
A |
6: 125,001,859 (GRCm39) |
V113E |
possibly damaging |
Het |
|
| Other mutations in Cnnm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01347:Cnnm4
|
APN |
1 |
36,537,115 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01534:Cnnm4
|
APN |
1 |
36,538,596 (GRCm39) |
missense |
probably benign |
|
|
IGL02201:Cnnm4
|
APN |
1 |
36,511,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03090:Cnnm4
|
APN |
1 |
36,510,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03173:Cnnm4
|
APN |
1 |
36,512,173 (GRCm39) |
splice site |
probably benign |
|
|
R0372:Cnnm4
|
UTSW |
1 |
36,537,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1659:Cnnm4
|
UTSW |
1 |
36,511,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2239:Cnnm4
|
UTSW |
1 |
36,544,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4195:Cnnm4
|
UTSW |
1 |
36,538,589 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4890:Cnnm4
|
UTSW |
1 |
36,511,345 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6109:Cnnm4
|
UTSW |
1 |
36,537,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6302:Cnnm4
|
UTSW |
1 |
36,539,036 (GRCm39) |
missense |
probably benign |
|
|
R7773:Cnnm4
|
UTSW |
1 |
36,538,603 (GRCm39) |
missense |
probably benign |
|
|
R7836:Cnnm4
|
UTSW |
1 |
36,511,019 (GRCm39) |
missense |
probably benign |
|
|
R8041:Cnnm4
|
UTSW |
1 |
36,511,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8222:Cnnm4
|
UTSW |
1 |
36,545,617 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9098:Cnnm4
|
UTSW |
1 |
36,511,170 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9231:Cnnm4
|
UTSW |
1 |
36,511,258 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9615:Cnnm4
|
UTSW |
1 |
36,511,893 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0011:Cnnm4
|
UTSW |
1 |
36,511,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cnnm4
|
UTSW |
1 |
36,544,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACTCCCTGCTCTTCATG -3'
(R):5'- ATAGTGTTGGCACCCACAG -3'
Sequencing Primer
(F):5'- CCCTGCTCTTCATGGTGGAG -3'
(R):5'- CACAGGGCTTGAGGTAAGATCTCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation