Incidental Mutation 'R4195:Cnnm4'
| ID |
318513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnnm4
|
| Ensembl Gene |
ENSMUSG00000037408 |
| Gene Name |
cyclin M4 |
| Synonyms |
Acdp4, 5430430O18Rik |
| MMRRC Submission |
041026-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R4195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
36510701-36547845 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36538589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 590
(H590Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000153128]
|
| AlphaFold |
Q69ZF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153128
AA Change: H590Q
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000121317
Gene: ENSMUSG00000037408
AA Change: H590Q
| 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 |
|
| Meta Mutation Damage Score |
0.1040 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Actg2 |
T |
G |
6: 83,500,155 (GRCm39) |
T39P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,762,261 (GRCm39) |
E531G |
probably damaging |
Het |
| Alox12b |
A |
G |
11: 69,060,426 (GRCm39) |
S661G |
probably benign |
Het |
| Apod |
T |
C |
16: 31,116,392 (GRCm39) |
M113V |
probably benign |
Het |
| Atl3 |
A |
G |
19: 7,495,911 (GRCm39) |
I171V |
possibly damaging |
Het |
| Atrn |
C |
A |
2: 130,775,332 (GRCm39) |
T145K |
probably damaging |
Het |
| Cacna1f |
A |
G |
X: 7,475,169 (GRCm39) |
H57R |
probably damaging |
Het |
| Cdhr18 |
C |
A |
14: 13,829,772 (GRCm38) |
V657L |
probably benign |
Het |
| Cldn9 |
T |
C |
17: 23,902,148 (GRCm39) |
E159G |
probably damaging |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Cse1l |
A |
G |
2: 166,771,899 (GRCm39) |
T387A |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Fbll1 |
A |
G |
11: 35,688,493 (GRCm39) |
S257P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,203,275 (GRCm39) |
S349P |
probably damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6569 |
C |
T |
15: 73,708,092 (GRCm39) |
P22L |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,120,096 (GRCm39) |
N314D |
probably damaging |
Het |
| Lman2l |
A |
C |
1: 36,464,022 (GRCm39) |
I266M |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,161,571 (GRCm39) |
R2074S |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,180,847 (GRCm39) |
H1226Q |
probably damaging |
Het |
| Nmi |
A |
C |
2: 51,838,632 (GRCm39) |
S301A |
probably benign |
Het |
| Or11i1 |
A |
T |
3: 106,729,328 (GRCm39) |
C182* |
probably null |
Het |
| Pclo |
A |
G |
5: 14,727,577 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,019,327 (GRCm39) |
Y59H |
probably damaging |
Het |
| Slc30a4 |
G |
A |
2: 122,527,190 (GRCm39) |
T401M |
probably damaging |
Het |
| Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,547 (GRCm39) |
|
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,134,102 (GRCm39) |
T387A |
probably benign |
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 |
|
R2986:Cnnm4
|
UTSW |
1 |
36,511,453 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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'- CAGGGAGGAAGCCATTCTAG -3'
(R):5'- GATGACACACAACCTGGAGC -3'
Sequencing Primer
(F):5'- CTAGTACAGAGTGGCGTGGTCAC -3'
(R):5'- GCACATTCAAGGGTAGGCC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation