Incidental Mutation 'IGL01883:Rmc1'
| ID |
179056 |
| 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 # |
IGL01883
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
12301774-12323715 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12311296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 125
(V125I)
|
| 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: V125I
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000025276
Gene: ENSMUSG00000024410
AA Change: V125I
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
C |
A |
1: 58,177,442 (GRCm39) |
P219Q |
probably damaging |
Het |
| Arl2 |
A |
G |
19: 6,187,521 (GRCm39) |
L109P |
probably damaging |
Het |
| Bhlha9 |
T |
C |
11: 76,563,924 (GRCm39) |
S184P |
probably benign |
Het |
| C2cd3 |
G |
A |
7: 100,023,693 (GRCm39) |
R93H |
possibly damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,012,663 (GRCm39) |
F295L |
probably benign |
Het |
| Cpsf7 |
A |
T |
19: 10,503,387 (GRCm39) |
D6V |
possibly damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,157,393 (GRCm39) |
V285E |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm18025 |
T |
A |
12: 34,340,692 (GRCm39) |
I134F |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Kif11 |
A |
C |
19: 37,372,791 (GRCm39) |
T60P |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,131,204 (GRCm39) |
D521G |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,108,066 (GRCm39) |
L583P |
probably damaging |
Het |
| Ppp6r1 |
A |
T |
7: 4,642,986 (GRCm39) |
|
probably null |
Het |
| Snap91 |
A |
T |
9: 86,657,665 (GRCm39) |
W509R |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Tmem79 |
T |
C |
3: 88,237,145 (GRCm39) |
N353D |
probably damaging |
Het |
|
| Other mutations in Rmc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Rmc1
|
APN |
18 |
12,312,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2014-05-07 |
Incidental Mutation