Incidental Mutation 'R1335:Smco2'
| ID |
156843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smco2
|
| Ensembl Gene |
ENSMUSG00000030292 |
| Gene Name |
single-pass membrane protein with coiled-coil domains 2 |
| Synonyms |
1700023A16Rik |
| MMRRC Submission |
039400-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1335 (G1)
|
| Quality Score |
198 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
146751608-146772902 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 146763585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032433]
|
| AlphaFold |
Q9DA21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032433
|
| SMART Domains |
Protein: ENSMUSP00000032433
Gene: ENSMUSG00000030292
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMCO5
|
1 |
121 |
3.6e-14 |
PFAM |
|
Pfam:TMCO5
|
142 |
346 |
2.5e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205239
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.7%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Cd209d |
T |
A |
8: 3,922,027 (GRCm39) |
D185V |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,262,875 (GRCm39) |
Y1484C |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,850,878 (GRCm39) |
V549A |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,178,043 (GRCm39) |
V3604M |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,119,286 (GRCm39) |
W489R |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,833,285 (GRCm39) |
I230F |
probably damaging |
Het |
| Gm19965 |
A |
G |
1: 116,732,349 (GRCm39) |
K64R |
possibly damaging |
Het |
| Gpr141 |
T |
G |
13: 19,936,034 (GRCm39) |
Y247S |
possibly damaging |
Het |
| Ivd |
A |
T |
2: 118,699,923 (GRCm39) |
H52L |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,885,929 (GRCm39) |
H260R |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,763,516 (GRCm39) |
|
probably null |
Het |
| Mtarc1 |
C |
T |
1: 184,536,138 (GRCm39) |
R98Q |
probably benign |
Het |
| Ndrg3 |
T |
C |
2: 156,787,928 (GRCm39) |
|
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,803 (GRCm39) |
Y72H |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,287 (GRCm39) |
N359I |
probably damaging |
Het |
| Phf24 |
G |
A |
4: 42,934,657 (GRCm39) |
V98I |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,641,629 (GRCm39) |
G270W |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Prss51 |
T |
G |
14: 64,333,620 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
C |
T |
5: 92,599,205 (GRCm39) |
|
probably null |
Het |
| Simc1 |
ACCA |
ACCANNNNNNNNNNNNNNNNNNCCA |
13: 54,673,078 (GRCm39) |
|
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,487,853 (GRCm39) |
Y192N |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,182,123 (GRCm39) |
D724G |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Sytl4 |
GAAAAAA |
GAAAAA |
X: 132,861,875 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,695,600 (GRCm39) |
T508A |
probably benign |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,080 (GRCm39) |
S251P |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,929,073 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Smco2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01959:Smco2
|
APN |
6 |
146,763,208 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03082:Smco2
|
APN |
6 |
146,761,542 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0256:Smco2
|
UTSW |
6 |
146,763,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:Smco2
|
UTSW |
6 |
146,772,633 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R1144:Smco2
|
UTSW |
6 |
146,772,638 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R2508:Smco2
|
UTSW |
6 |
146,761,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4560:Smco2
|
UTSW |
6 |
146,772,674 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4701:Smco2
|
UTSW |
6 |
146,763,440 (GRCm39) |
intron |
probably benign |
|
|
R4987:Smco2
|
UTSW |
6 |
146,757,590 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5322:Smco2
|
UTSW |
6 |
146,772,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Smco2
|
UTSW |
6 |
146,772,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7023:Smco2
|
UTSW |
6 |
146,760,354 (GRCm39) |
nonsense |
probably null |
|
|
R7090:Smco2
|
UTSW |
6 |
146,772,711 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7220:Smco2
|
UTSW |
6 |
146,760,363 (GRCm39) |
missense |
probably benign |
|
|
R7635:Smco2
|
UTSW |
6 |
146,761,507 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8011:Smco2
|
UTSW |
6 |
146,769,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8060:Smco2
|
UTSW |
6 |
146,768,283 (GRCm39) |
missense |
probably benign |
|
|
RF015:Smco2
|
UTSW |
6 |
146,754,161 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGTGTACCAAACAGACCTTAGCC -3'
(R):5'- GGTCACAGTCAGCGTCTTGCTTTC -3'
Sequencing Primer
(F):5'- GACCTTAGCCAGAGGAAGACC -3'
(R):5'- CGTCTTGCTTTCTAAGGACATGG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation