Incidental Mutation 'IGL00264:Rmc1'
| ID |
5732 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rmc1
|
| Ensembl Gene |
ENSMUSG00000024410 |
| Gene Name |
regulator of MON1-CCZ1 |
| Synonyms |
3110002H16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.734)
|
| Stock # |
IGL00264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
12301774-12323715 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12312276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 172
(V172A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025276]
[ENSMUST00000134046]
[ENSMUST00000138866]
|
| AlphaFold |
Q8VC42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025276
AA Change: V172A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025276
Gene: ENSMUSG00000024410
AA Change: V172A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1crza1
|
21 |
169 |
5e-4 |
SMART |
|
low complexity region
|
268 |
281 |
N/A |
INTRINSIC |
|
Pfam:Mic1
|
475 |
632 |
4.4e-73 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127123
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134046
|
| SMART Domains |
Protein: ENSMUSP00000118783
Gene: ENSMUSG00000024410
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138866
|
| SMART Domains |
Protein: ENSMUSP00000121414
Gene: ENSMUSG00000024410
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155431
|
| 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 colon cancer associated protein. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
G |
1: 125,324,966 (GRCm39) |
I319L |
probably benign |
Het |
| Akap7 |
C |
T |
10: 25,047,138 (GRCm39) |
D20N |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,741,934 (GRCm39) |
S1070T |
probably benign |
Het |
| Arhgef9 |
T |
C |
X: 94,125,237 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
G |
10: 50,590,531 (GRCm39) |
V1083G |
probably damaging |
Het |
| Asns |
T |
A |
6: 7,680,179 (GRCm39) |
E312D |
probably damaging |
Het |
| Bpifc |
A |
C |
10: 85,796,392 (GRCm39) |
V472G |
possibly damaging |
Het |
| Ccdc71 |
T |
A |
9: 108,340,237 (GRCm39) |
S17T |
probably damaging |
Het |
| Cebpzos |
T |
C |
17: 79,225,777 (GRCm39) |
|
probably benign |
Het |
| Cfi |
T |
C |
3: 129,666,744 (GRCm39) |
I489T |
probably damaging |
Het |
| Chrm2 |
T |
A |
6: 36,500,326 (GRCm39) |
F61Y |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,237,863 (GRCm39) |
Y149C |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,720 (GRCm39) |
I246T |
probably benign |
Het |
| Ereg |
C |
A |
5: 91,222,638 (GRCm39) |
S7Y |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,429,022 (GRCm39) |
L349Q |
possibly damaging |
Het |
| Gm10754 |
A |
G |
10: 97,518,274 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,864,475 (GRCm38) |
L29H |
probably benign |
Het |
| Hexim2 |
A |
G |
11: 103,029,281 (GRCm39) |
E111G |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,128,899 (GRCm39) |
N586K |
possibly damaging |
Het |
| Kat6b |
A |
G |
14: 21,718,627 (GRCm39) |
D1102G |
probably benign |
Het |
| Kif27 |
A |
T |
13: 58,485,418 (GRCm39) |
M514K |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,428,616 (GRCm39) |
I660T |
probably damaging |
Het |
| Mki67 |
C |
A |
7: 135,309,549 (GRCm39) |
G301* |
probably null |
Het |
| Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
| Or1l4b |
T |
C |
2: 37,037,079 (GRCm39) |
F285S |
probably damaging |
Het |
| Or5b121 |
A |
C |
19: 13,507,214 (GRCm39) |
Y103S |
probably damaging |
Het |
| Or5b99 |
A |
G |
19: 12,976,683 (GRCm39) |
Y111C |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,488,526 (GRCm39) |
H68L |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,354,425 (GRCm39) |
V272A |
possibly damaging |
Het |
| Pstpip2 |
T |
C |
18: 77,959,259 (GRCm39) |
|
probably benign |
Het |
| Rdh14 |
G |
T |
12: 10,441,134 (GRCm39) |
G99W |
probably damaging |
Het |
| Sra1 |
A |
T |
18: 36,801,792 (GRCm39) |
S99R |
probably benign |
Het |
| Tbrg1 |
G |
T |
9: 37,562,337 (GRCm39) |
N280K |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,708,285 (GRCm39) |
|
probably null |
Het |
| Usp40 |
A |
T |
1: 87,931,960 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,646 (GRCm39) |
Y108F |
probably damaging |
Het |
| Zfp521 |
A |
G |
18: 13,979,559 (GRCm39) |
Y285H |
probably benign |
Het |
|
| Other mutations in Rmc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01883:Rmc1
|
APN |
18 |
12,311,296 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01956:Rmc1
|
APN |
18 |
12,322,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02828:Rmc1
|
APN |
18 |
12,322,278 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03147:Rmc1
|
APN |
18 |
12,302,286 (GRCm39) |
splice site |
probably benign |
|
|
R0147:Rmc1
|
UTSW |
18 |
12,322,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0357:Rmc1
|
UTSW |
18 |
12,312,266 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1108:Rmc1
|
UTSW |
18 |
12,314,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1422:Rmc1
|
UTSW |
18 |
12,314,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1939:Rmc1
|
UTSW |
18 |
12,313,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4300:Rmc1
|
UTSW |
18 |
12,321,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4826:Rmc1
|
UTSW |
18 |
12,318,836 (GRCm39) |
intron |
probably benign |
|
|
R5103:Rmc1
|
UTSW |
18 |
12,322,319 (GRCm39) |
missense |
probably benign |
|
|
R5345:Rmc1
|
UTSW |
18 |
12,312,234 (GRCm39) |
missense |
probably benign |
|
|
R5506:Rmc1
|
UTSW |
18 |
12,322,013 (GRCm39) |
unclassified |
probably benign |
|
|
R5566:Rmc1
|
UTSW |
18 |
12,313,749 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5574:Rmc1
|
UTSW |
18 |
12,318,063 (GRCm39) |
frame shift |
probably null |
|
|
R5632:Rmc1
|
UTSW |
18 |
12,304,640 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6331:Rmc1
|
UTSW |
18 |
12,313,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6765:Rmc1
|
UTSW |
18 |
12,309,203 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6978:Rmc1
|
UTSW |
18 |
12,318,804 (GRCm39) |
missense |
probably benign |
|
|
R7310:Rmc1
|
UTSW |
18 |
12,317,972 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7734:Rmc1
|
UTSW |
18 |
12,322,320 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7792:Rmc1
|
UTSW |
18 |
12,314,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7830:Rmc1
|
UTSW |
18 |
12,301,928 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7885:Rmc1
|
UTSW |
18 |
12,322,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8047:Rmc1
|
UTSW |
18 |
12,313,586 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8144:Rmc1
|
UTSW |
18 |
12,318,704 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8157:Rmc1
|
UTSW |
18 |
12,321,690 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8870:Rmc1
|
UTSW |
18 |
12,321,618 (GRCm39) |
missense |
probably benign |
|
|
R9457:Rmc1
|
UTSW |
18 |
12,312,303 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0062:Rmc1
|
UTSW |
18 |
12,312,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation