Incidental Mutation 'IGL01956:Rmc1'
| ID |
181104 |
| 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? |
Probably essential
(E-score: 0.754)
|
| Stock # |
IGL01956
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
12301774-12323715 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12322407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 620
(N620S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025276]
[ENSMUST00000025279]
[ENSMUST00000134046]
[ENSMUST00000138866]
|
| AlphaFold |
Q8VC42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025276
AA Change: N620S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025276
Gene: ENSMUSG00000024410
AA Change: N620S
| 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 |
probably benign
Transcript: ENSMUST00000025279
|
| SMART Domains |
Protein: ENSMUSP00000025279
Gene: ENSMUSG00000024413
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
15 |
N/A |
INTRINSIC |
|
Pfam:NPC1_N
|
22 |
267 |
1.6e-79 |
PFAM |
|
transmembrane domain
|
269 |
291 |
N/A |
INTRINSIC |
|
transmembrane domain
|
353 |
375 |
N/A |
INTRINSIC |
|
Pfam:Patched
|
436 |
896 |
3.5e-52 |
PFAM |
|
Pfam:MMPL
|
648 |
794 |
6.3e-8 |
PFAM |
|
Pfam:Sterol-sensing
|
649 |
803 |
2.7e-56 |
PFAM |
|
Pfam:Patched
|
1023 |
1252 |
2.9e-33 |
PFAM |
|
low complexity region
|
1259 |
1273 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000134756
|
| 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: ENSMUST00000139151
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153233
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153352
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
T |
5: 89,825,770 (GRCm39) |
G1022D |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,594,549 (GRCm39) |
H4155R |
possibly damaging |
Het |
| Akna |
A |
T |
4: 63,297,527 (GRCm39) |
D842E |
probably benign |
Het |
| Cacng5 |
T |
C |
11: 107,773,735 (GRCm39) |
E88G |
possibly damaging |
Het |
| Fbxw18 |
G |
A |
9: 109,522,425 (GRCm39) |
P148L |
probably damaging |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Iho1 |
T |
C |
9: 108,294,518 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,150,158 (GRCm39) |
|
probably null |
Het |
| Nudcd1 |
A |
G |
15: 44,263,612 (GRCm39) |
Y277H |
probably damaging |
Het |
| Nvl |
A |
G |
1: 180,962,509 (GRCm39) |
S154P |
probably benign |
Het |
| Or6c206 |
T |
A |
10: 129,096,911 (GRCm39) |
I27N |
possibly damaging |
Het |
| Pah |
G |
A |
10: 87,374,061 (GRCm39) |
E76K |
probably benign |
Het |
| Peli1 |
T |
A |
11: 21,098,501 (GRCm39) |
I412N |
probably damaging |
Het |
| Slc18a2 |
T |
C |
19: 59,275,608 (GRCm39) |
|
probably benign |
Het |
| Stx1a |
T |
C |
5: 135,066,323 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
G |
A |
12: 76,144,748 (GRCm39) |
D1566N |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,420,755 (GRCm39) |
E433D |
probably benign |
Het |
| Tas2r102 |
G |
A |
6: 132,739,416 (GRCm39) |
W108* |
probably null |
Het |
| Trappc11 |
A |
G |
8: 47,981,036 (GRCm39) |
V135A |
possibly damaging |
Het |
| Unk |
T |
C |
11: 115,947,160 (GRCm39) |
S598P |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp729a |
A |
T |
13: 67,769,805 (GRCm39) |
H141Q |
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 |
|
IGL01883:Rmc1
|
APN |
18 |
12,311,296 (GRCm39) |
missense |
probably benign |
0.03 |
|
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