Incidental Mutation 'R5506:Rmc1'
| ID |
430948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rmc1
|
| Ensembl Gene |
ENSMUSG00000024410 |
| Gene Name |
regulator of MON1-CCZ1 |
| Synonyms |
3110002H16Rik |
| MMRRC Submission |
043067-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.734)
|
| Stock # |
R5506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
12301774-12323715 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 12322013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025276]
[ENSMUST00000025279]
[ENSMUST00000134046]
[ENSMUST00000138866]
|
| 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 |
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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,773,708 (GRCm39) |
G966W |
probably damaging |
Het |
| A930009A15Rik |
G |
T |
10: 115,414,267 (GRCm39) |
|
probably null |
Het |
| Cant1 |
G |
T |
11: 118,302,268 (GRCm39) |
H16Q |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,332,901 (GRCm39) |
V612F |
probably damaging |
Het |
| Cep112 |
A |
T |
11: 108,555,429 (GRCm39) |
E141D |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,438,564 (GRCm39) |
V173A |
probably benign |
Het |
| CN725425 |
A |
G |
15: 91,120,029 (GRCm39) |
D50G |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,496,506 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
A |
G |
9: 64,985,391 (GRCm39) |
|
probably null |
Het |
| Ecm1 |
G |
A |
3: 95,643,169 (GRCm39) |
T377I |
probably benign |
Het |
| Exosc8 |
A |
G |
3: 54,638,600 (GRCm39) |
|
probably benign |
Het |
| Fasn |
C |
T |
11: 120,700,336 (GRCm39) |
D2165N |
probably benign |
Het |
| Gab2 |
A |
G |
7: 96,952,320 (GRCm39) |
E571G |
probably damaging |
Het |
| Galnt5 |
C |
A |
2: 57,889,637 (GRCm39) |
H412Q |
probably benign |
Het |
| Galr1 |
T |
A |
18: 82,423,989 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Garin1b |
G |
A |
6: 29,319,297 (GRCm39) |
E34K |
probably damaging |
Het |
| Gnl2 |
C |
A |
4: 124,949,158 (GRCm39) |
|
probably benign |
Het |
| H2ac22 |
A |
C |
13: 21,971,081 (GRCm39) |
I103S |
probably damaging |
Het |
| H2ax |
T |
C |
9: 44,246,402 (GRCm39) |
V115A |
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,405,592 (GRCm39) |
N317S |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,507,804 (GRCm39) |
Y1254C |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,436,259 (GRCm39) |
D1302E |
probably benign |
Het |
| Mc2r |
A |
T |
18: 68,541,019 (GRCm39) |
Y91* |
probably null |
Het |
| Meis1 |
T |
G |
11: 18,891,747 (GRCm39) |
D267A |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,301,710 (GRCm39) |
K1108R |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myh3 |
T |
G |
11: 66,974,915 (GRCm39) |
D219E |
probably damaging |
Het |
| Niban2 |
G |
A |
2: 32,810,994 (GRCm39) |
V335M |
probably damaging |
Het |
| Or10g1b |
T |
C |
14: 52,628,084 (GRCm39) |
I49V |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,570 (GRCm39) |
L149P |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,111,817 (GRCm39) |
C1553R |
probably damaging |
Het |
| Plekhb1 |
C |
A |
7: 100,294,150 (GRCm39) |
|
probably null |
Het |
| Polr3d |
A |
T |
14: 70,678,199 (GRCm39) |
D165E |
possibly damaging |
Het |
| Prb1c |
T |
C |
6: 132,338,819 (GRCm39) |
N133S |
unknown |
Het |
| Psmb1 |
A |
G |
17: 15,710,478 (GRCm39) |
Y24H |
probably damaging |
Het |
| Rab11fip5 |
A |
G |
6: 85,351,119 (GRCm39) |
L131P |
probably damaging |
Het |
| Raph1 |
A |
T |
1: 60,532,657 (GRCm39) |
|
probably benign |
Het |
| Scgb2b27 |
T |
G |
7: 33,711,484 (GRCm39) |
|
probably benign |
Het |
| Serpina10 |
T |
C |
12: 103,592,920 (GRCm39) |
D264G |
probably damaging |
Het |
| Sftpb |
A |
G |
6: 72,281,651 (GRCm39) |
T15A |
possibly damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,052,739 (GRCm39) |
F674L |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,985,495 (GRCm39) |
N1648Y |
probably benign |
Het |
| Thsd7a |
G |
T |
6: 12,332,016 (GRCm39) |
N1265K |
possibly damaging |
Het |
| Trem2 |
T |
C |
17: 48,658,802 (GRCm39) |
L189P |
probably benign |
Het |
| Washc4 |
A |
T |
10: 83,417,201 (GRCm39) |
R865S |
probably damaging |
Het |
| Zfp536 |
A |
G |
7: 37,268,217 (GRCm39) |
S400P |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTTGGTTCTCAGTGGGAACG -3'
(R):5'- TGCTGTTGAAAGTCTCTGGAAG -3'
Sequencing Primer
(F):5'- AGCCATGGTCCAGTGACTCAG -3'
(R):5'- TGTTGAAAGTCTCTGGAAGTAAGAAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation