Incidental Mutation 'R3922:Cnnm1'
| ID |
307004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnnm1
|
| Ensembl Gene |
ENSMUSG00000025189 |
| Gene Name |
cyclin M1 |
| Synonyms |
Acdp1 |
| MMRRC Submission |
040819-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R3922 (G1)
|
| Quality Score |
116 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
43428875-43485649 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 43428884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165311]
[ENSMUST00000223787]
|
| AlphaFold |
Q0GA42 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000165311
AA Change: M1V
|
| SMART Domains |
Protein: ENSMUSP00000131830
Gene: ENSMUSG00000025189
AA Change: M1V
| 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 null
Transcript: ENSMUST00000223787
AA Change: M1V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225283
|
| Meta Mutation Damage Score |
0.8405 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 4921504E06Rik |
T |
A |
2: 19,485,371 (GRCm39) |
E432V |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,105,150 (GRCm39) |
R405W |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,130,452 (GRCm39) |
L462P |
possibly damaging |
Het |
| Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,157,632 (GRCm39) |
*117R |
probably null |
Het |
| Cntrl |
A |
G |
2: 35,019,751 (GRCm39) |
E526G |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
| Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
| Eea1 |
T |
A |
10: 95,872,495 (GRCm39) |
N1068K |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,831,495 (GRCm39) |
C555S |
probably damaging |
Het |
| Esd |
A |
T |
14: 74,980,667 (GRCm39) |
Q130H |
probably benign |
Het |
| Gpr89 |
A |
T |
3: 96,798,215 (GRCm39) |
I147N |
probably damaging |
Het |
| H2-M10.1 |
T |
A |
17: 36,636,577 (GRCm39) |
I76L |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,766,873 (GRCm39) |
D300V |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,567,593 (GRCm39) |
V276L |
unknown |
Het |
| Lrp2 |
T |
C |
2: 69,336,720 (GRCm39) |
K1351E |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,064,731 (GRCm39) |
I782V |
probably benign |
Het |
| Msrb1 |
T |
C |
17: 24,959,057 (GRCm39) |
S70P |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,861,585 (GRCm38) |
M547T |
possibly damaging |
Het |
| Or51ah3 |
T |
C |
7: 103,209,912 (GRCm39) |
V76A |
probably benign |
Het |
| Or6c2b |
C |
A |
10: 128,947,482 (GRCm39) |
V271F |
possibly damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
| P4htm |
T |
C |
9: 108,460,094 (GRCm39) |
N227D |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,356,843 (GRCm39) |
T787A |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,999,622 (GRCm39) |
L155P |
probably damaging |
Het |
| Sbno1 |
T |
C |
5: 124,519,993 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,357,217 (GRCm39) |
D1028V |
possibly damaging |
Het |
| Sft2d1 |
G |
T |
17: 8,537,714 (GRCm39) |
L34F |
possibly damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc27a3 |
G |
T |
3: 90,294,392 (GRCm39) |
H460N |
possibly damaging |
Het |
| Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
| Ssh1 |
T |
G |
5: 114,080,769 (GRCm39) |
Q865P |
possibly damaging |
Het |
| Trp63 |
A |
G |
16: 25,707,759 (GRCm39) |
D583G |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
| Wdr43 |
A |
G |
17: 71,945,296 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,465,707 (GRCm39) |
Y1955C |
probably damaging |
Het |
| Zfp108 |
G |
A |
7: 23,960,773 (GRCm39) |
G455R |
probably damaging |
Het |
| Zfp353-ps |
A |
T |
8: 42,536,049 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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'- GTGTATCCAGGCTAGGCACTG -3'
(R):5'- AGGAGGAAGCTGGTGCCTTC -3'
Sequencing Primer
(F):5'- AGGCTAGGCACTGTGACG -3'
(R):5'- GTCGCAGACCCAGTAAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation