Incidental Mutation 'IGL03147:Rmc1'
ID |
410960 |
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 # |
IGL03147 (G1)
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
12301774-12323715 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 12302286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025276
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025276]
|
AlphaFold |
Q8VC42 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025276
|
SMART Domains |
Protein: ENSMUSP00000025276 Gene: ENSMUSG00000024410
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 |
noncoding transcript
Transcript: ENSMUST00000155431
|
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
91% (39/43) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Acan |
A |
G |
7: 78,740,804 (GRCm39) |
E390G |
probably damaging |
Het |
Ano3 |
A |
G |
2: 110,527,763 (GRCm39) |
S552P |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 61,289,144 (GRCm39) |
S436G |
probably benign |
Het |
Chek2 |
A |
G |
5: 110,996,536 (GRCm39) |
D166G |
probably damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Deup1 |
A |
T |
9: 15,521,910 (GRCm39) |
M85K |
probably damaging |
Het |
Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
Exo1 |
A |
G |
1: 175,716,354 (GRCm39) |
Y157C |
probably damaging |
Het |
Ext1 |
T |
A |
15: 52,951,468 (GRCm39) |
I539F |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,748,917 (GRCm39) |
V1849A |
possibly damaging |
Het |
Gpr161 |
A |
G |
1: 165,144,877 (GRCm39) |
T389A |
probably benign |
Het |
Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
Mir205hg |
T |
A |
1: 193,189,768 (GRCm39) |
|
noncoding transcript |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Ncoa1 |
T |
A |
12: 4,309,342 (GRCm39) |
Y1318F |
probably damaging |
Het |
Or4c120 |
A |
G |
2: 89,001,316 (GRCm39) |
M80T |
probably benign |
Het |
Pml |
T |
C |
9: 58,137,326 (GRCm39) |
H491R |
possibly damaging |
Het |
Rbmxl2 |
T |
G |
7: 106,808,858 (GRCm39) |
S48A |
probably benign |
Het |
Rgs6 |
A |
G |
12: 83,138,620 (GRCm39) |
D318G |
probably damaging |
Het |
Sfi1 |
G |
A |
11: 3,136,080 (GRCm39) |
T84I |
possibly damaging |
Het |
Slc2a2 |
A |
G |
3: 28,773,519 (GRCm39) |
M275V |
possibly damaging |
Het |
Sp110 |
GC |
GCC |
1: 85,519,288 (GRCm39) |
|
probably null |
Het |
Specc1 |
T |
C |
11: 62,009,108 (GRCm39) |
V288A |
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,732,377 (GRCm39) |
V118I |
probably damaging |
Het |
St8sia2 |
C |
A |
7: 73,616,567 (GRCm39) |
C136F |
probably damaging |
Het |
Stmn3 |
A |
T |
2: 180,950,993 (GRCm39) |
I21N |
possibly damaging |
Het |
Trak2 |
G |
A |
1: 58,949,222 (GRCm39) |
T526M |
probably benign |
Het |
Ttn |
T |
A |
2: 76,542,311 (GRCm39) |
K25231N |
probably damaging |
Het |
Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
Vmn1r11 |
A |
T |
6: 57,114,650 (GRCm39) |
I68F |
probably damaging |
Het |
Zfr |
T |
A |
15: 12,140,638 (GRCm39) |
Y228* |
probably null |
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 |
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 |
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 |
2016-08-02 |