Incidental Mutation 'IGL01615:Cnnm1'
ID |
92365 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cnnm1
|
Ensembl Gene |
ENSMUSG00000025189 |
Gene Name |
cyclin M1 |
Synonyms |
Acdp1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
IGL01615
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
43428875-43485649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43460375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 706
(S706C)
|
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: S706C
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000131830 Gene: ENSMUSG00000025189 AA Change: S706C
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: S706C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225254
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225421
|
Coding Region Coverage |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp2 |
T |
C |
18: 80,171,692 (GRCm39) |
T906A |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,347,141 (GRCm39) |
S1731G |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,465,044 (GRCm39) |
V650A |
probably benign |
Het |
Appl1 |
A |
G |
14: 26,681,427 (GRCm39) |
|
probably benign |
Het |
Avpr1b |
T |
G |
1: 131,527,885 (GRCm39) |
V136G |
probably damaging |
Het |
C6 |
T |
C |
15: 4,811,378 (GRCm39) |
F409L |
probably benign |
Het |
Ccdc121rt3 |
A |
G |
5: 112,503,696 (GRCm39) |
S3P |
possibly damaging |
Het |
Cdk20 |
A |
G |
13: 64,584,124 (GRCm39) |
|
probably benign |
Het |
Cenpf |
T |
C |
1: 189,385,381 (GRCm39) |
K2300E |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,457,993 (GRCm39) |
R399Q |
probably damaging |
Het |
Cimap3 |
G |
T |
3: 105,904,523 (GRCm39) |
|
probably null |
Het |
Cr1l |
T |
C |
1: 194,812,189 (GRCm39) |
I45V |
possibly damaging |
Het |
D130043K22Rik |
A |
T |
13: 25,083,779 (GRCm39) |
R1081S |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,416,774 (GRCm39) |
H573L |
probably null |
Het |
Eif5b |
T |
C |
1: 38,084,787 (GRCm39) |
L878S |
probably damaging |
Het |
Ets1 |
T |
C |
9: 32,644,235 (GRCm39) |
|
probably benign |
Het |
Evi5 |
A |
G |
5: 107,912,573 (GRCm39) |
L696P |
probably damaging |
Het |
Fbh1 |
C |
A |
2: 11,762,334 (GRCm39) |
E12* |
probably null |
Het |
Gabpb1 |
C |
A |
2: 126,495,520 (GRCm39) |
M77I |
possibly damaging |
Het |
Glul |
T |
A |
1: 153,782,222 (GRCm39) |
N152K |
probably benign |
Het |
Gm45234 |
T |
C |
6: 124,723,394 (GRCm39) |
Y613C |
probably damaging |
Het |
Gm5611 |
A |
G |
9: 16,941,647 (GRCm39) |
|
noncoding transcript |
Het |
Gpr156 |
T |
A |
16: 37,808,953 (GRCm39) |
I225K |
probably damaging |
Het |
Herc4 |
T |
C |
10: 63,126,461 (GRCm39) |
|
probably benign |
Het |
Iqsec3 |
C |
T |
6: 121,387,580 (GRCm39) |
V720M |
probably damaging |
Het |
Itgam |
A |
T |
7: 127,715,939 (GRCm39) |
H1104L |
possibly damaging |
Het |
Itgb3 |
T |
A |
11: 104,534,791 (GRCm39) |
D549E |
probably damaging |
Het |
Kctd7 |
A |
T |
5: 130,176,976 (GRCm39) |
M76L |
probably damaging |
Het |
Kdm3b |
T |
G |
18: 34,962,284 (GRCm39) |
N1523K |
probably damaging |
Het |
Map3k12 |
T |
A |
15: 102,412,186 (GRCm39) |
E318D |
probably damaging |
Het |
Mc1r |
T |
C |
8: 124,134,789 (GRCm39) |
Y181H |
probably damaging |
Het |
Mex3c |
G |
A |
18: 73,706,703 (GRCm39) |
A197T |
unknown |
Het |
Mvk |
A |
G |
5: 114,584,353 (GRCm39) |
D71G |
probably benign |
Het |
Ndufb3 |
T |
A |
1: 58,634,912 (GRCm39) |
L88* |
probably null |
Het |
Or56a4 |
A |
G |
7: 104,806,667 (GRCm39) |
V74A |
probably benign |
Het |
Or5p55 |
A |
G |
7: 107,567,144 (GRCm39) |
D180G |
probably damaging |
Het |
Pramel17 |
T |
A |
4: 101,694,201 (GRCm39) |
R227S |
possibly damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Slc5a3 |
C |
T |
16: 91,876,000 (GRCm39) |
Q686* |
probably null |
Het |
Vmn2r75 |
T |
C |
7: 85,797,681 (GRCm39) |
I711V |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,863,063 (GRCm39) |
H3026Q |
probably benign |
Het |
Zfp354c |
A |
G |
11: 50,708,732 (GRCm39) |
S22P |
possibly damaging |
Het |
|
Other mutations in Cnnm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2013-12-09 |