Incidental Mutation 'R1392:Tmcc1'
| ID |
165973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmcc1
|
| Ensembl Gene |
ENSMUSG00000030126 |
| Gene Name |
transmembrane and coiled coil domains 1 |
| Synonyms |
3632431M01Rik |
| MMRRC Submission |
039454-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
R1392 (G1)
|
| Quality Score |
110 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
115995572-116170447 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 115999071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 323
(R323G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088896]
[ENSMUST00000172510]
[ENSMUST00000173110]
[ENSMUST00000173140]
[ENSMUST00000173548]
[ENSMUST00000204353]
|
| AlphaFold |
Q69ZZ6 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000032222
Gene: ENSMUSG00000030126
AA Change: R683G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
164 |
N/A |
INTRINSIC |
|
Pfam:Tmemb_cc2
|
268 |
677 |
9.7e-170 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088896
AA Change: R643G
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000086285
Gene: ENSMUSG00000030126
AA Change: R643G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
167 |
N/A |
INTRINSIC |
|
Pfam:Tmemb_cc2
|
227 |
636 |
2.3e-170 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172510
AA Change: R323G
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133665
Gene: ENSMUSG00000030126
AA Change: R323G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
1 |
188 |
6.5e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173110
|
| SMART Domains |
Protein: ENSMUSP00000133794
Gene: ENSMUSG00000030126
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173140
AA Change: R323G
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134455
Gene: ENSMUSG00000030126
AA Change: R323G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
1 |
79 |
6.1e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173548
AA Change: R464G
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145456
Gene: ENSMUSG00000030126
AA Change: R464G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
48 |
457 |
1.5e-167 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204353
AA Change: R468G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144971
Gene: ENSMUSG00000030126
AA Change: R468G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
52 |
461 |
8.3e-171 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.6%
- 10x: 94.0%
- 20x: 82.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Csf1 |
A |
G |
3: 107,663,946 (GRCm39) |
V74A |
probably benign |
Het |
| Hnrnpm |
A |
T |
17: 33,877,389 (GRCm39) |
S325T |
possibly damaging |
Het |
| Hunk |
T |
C |
16: 90,269,352 (GRCm39) |
S299P |
probably damaging |
Het |
| Kcnk4 |
C |
T |
19: 6,905,031 (GRCm39) |
V207I |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,368,800 (GRCm39) |
H520R |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,063 (GRCm39) |
F311L |
probably benign |
Het |
| Or1n1 |
A |
T |
2: 36,750,187 (GRCm39) |
Y58N |
probably damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,919 (GRCm39) |
L83P |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,638,880 (GRCm39) |
H607R |
possibly damaging |
Het |
| Rsad2 |
A |
G |
12: 26,495,439 (GRCm39) |
V352A |
probably benign |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,856 (GRCm39) |
L136P |
probably damaging |
Het |
| Spef2 |
C |
T |
15: 9,647,349 (GRCm39) |
V993I |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,464,472 (GRCm39) |
H67R |
possibly damaging |
Het |
| Tmt1b |
T |
C |
10: 128,796,567 (GRCm39) |
T81A |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,596,624 (GRCm39) |
S144T |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,830 (GRCm39) |
T239A |
probably benign |
Het |
|
| Other mutations in Tmcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01023:Tmcc1
|
APN |
6 |
116,019,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01580:Tmcc1
|
APN |
6 |
116,019,946 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02858:Tmcc1
|
APN |
6 |
116,110,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03226:Tmcc1
|
APN |
6 |
116,110,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Dominus_dei
|
UTSW |
6 |
116,111,198 (GRCm39) |
nonsense |
probably null |
|
|
FR4976:Tmcc1
|
UTSW |
6 |
116,170,341 (GRCm39) |
start gained |
probably benign |
|
|
IGL02988:Tmcc1
|
UTSW |
6 |
116,019,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Tmcc1
|
UTSW |
6 |
116,020,417 (GRCm39) |
missense |
|
|
|
R0522:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R0654:Tmcc1
|
UTSW |
6 |
116,019,951 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0721:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R1573:Tmcc1
|
UTSW |
6 |
116,110,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1644:Tmcc1
|
UTSW |
6 |
116,110,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2062:Tmcc1
|
UTSW |
6 |
116,020,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2065:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R2214:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R2240:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R2399:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R3683:Tmcc1
|
UTSW |
6 |
116,019,831 (GRCm39) |
frame shift |
probably null |
|
|
R3722:Tmcc1
|
UTSW |
6 |
116,110,783 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3926:Tmcc1
|
UTSW |
6 |
116,019,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4082:Tmcc1
|
UTSW |
6 |
116,020,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4155:Tmcc1
|
UTSW |
6 |
116,110,765 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4619:Tmcc1
|
UTSW |
6 |
116,020,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5246:Tmcc1
|
UTSW |
6 |
116,020,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Tmcc1
|
UTSW |
6 |
115,999,071 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6364:Tmcc1
|
UTSW |
6 |
116,020,722 (GRCm39) |
start gained |
probably benign |
|
|
R7238:Tmcc1
|
UTSW |
6 |
116,111,198 (GRCm39) |
nonsense |
probably null |
|
|
R7257:Tmcc1
|
UTSW |
6 |
116,084,299 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7603:Tmcc1
|
UTSW |
6 |
116,020,092 (GRCm39) |
nonsense |
probably null |
|
|
R7693:Tmcc1
|
UTSW |
6 |
116,001,843 (GRCm39) |
missense |
|
|
|
R7694:Tmcc1
|
UTSW |
6 |
116,110,805 (GRCm39) |
missense |
|
|
|
R7698:Tmcc1
|
UTSW |
6 |
116,020,763 (GRCm39) |
nonsense |
probably null |
|
|
R7798:Tmcc1
|
UTSW |
6 |
116,020,539 (GRCm39) |
missense |
|
|
|
R8158:Tmcc1
|
UTSW |
6 |
116,020,435 (GRCm39) |
missense |
|
|
|
R8808:Tmcc1
|
UTSW |
6 |
116,111,099 (GRCm39) |
missense |
|
|
|
R8808:Tmcc1
|
UTSW |
6 |
116,111,098 (GRCm39) |
missense |
|
|
|
R9222:Tmcc1
|
UTSW |
6 |
116,020,049 (GRCm39) |
missense |
|
|
|
R9369:Tmcc1
|
UTSW |
6 |
116,111,050 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9753:Tmcc1
|
UTSW |
6 |
115,999,071 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCACGGCAGGGAAAATCCAC -3'
(R):5'- CCGAAACCTTCTGGGCAAACTCATC -3'
Sequencing Primer
(F):5'- CAATTCAGAATGCCCTTCAGTGTG -3'
(R):5'- CTTCTGGGCAAACTCATCAATATC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation