Incidental Mutation 'R5246:Tmcc1'
ID |
401151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmcc1
|
Ensembl Gene |
ENSMUSG00000030126 |
Gene Name |
transmembrane and coiled coil domains 1 |
Synonyms |
3632431M01Rik |
MMRRC Submission |
042817-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.302)
|
Stock # |
R5246 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
115995572-116170447 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116020381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 142
(V142A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088896]
[ENSMUST00000172510]
[ENSMUST00000173110]
[ENSMUST00000173140]
[ENSMUST00000173548]
[ENSMUST00000204353]
|
AlphaFold |
Q69ZZ6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000032222
AA Change: V357A
|
SMART Domains |
Protein: ENSMUSP00000032222 Gene: ENSMUSG00000030126 AA Change: V357A
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 |
probably damaging
Transcript: ENSMUST00000088896
AA Change: V317A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000086285 Gene: ENSMUSG00000030126 AA Change: V317A
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 |
probably benign
Transcript: ENSMUST00000172510
|
SMART Domains |
Protein: ENSMUSP00000133665 Gene: ENSMUSG00000030126
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
1 |
188 |
6.5e-95 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172909
|
SMART Domains |
Protein: ENSMUSP00000134407 Gene: ENSMUSG00000030126
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
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 |
probably benign
Transcript: ENSMUST00000173140
|
SMART Domains |
Protein: ENSMUSP00000134455 Gene: ENSMUSG00000030126
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
1 |
79 |
6.1e-20 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173548
AA Change: V138A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000145456 Gene: ENSMUSG00000030126 AA Change: V138A
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
48 |
457 |
1.5e-167 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000204353
AA Change: V142A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144971 Gene: ENSMUSG00000030126 AA Change: V142A
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
52 |
461 |
8.3e-171 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
T |
A |
10: 14,302,509 (GRCm39) |
Y968F |
probably damaging |
Het |
Bltp1 |
G |
A |
3: 37,102,199 (GRCm39) |
R1299Q |
probably damaging |
Het |
Brwd1 |
G |
A |
16: 95,803,757 (GRCm39) |
P2138S |
probably damaging |
Het |
Cdkl4 |
T |
A |
17: 80,846,913 (GRCm39) |
|
probably null |
Het |
Cep55 |
T |
A |
19: 38,058,119 (GRCm39) |
D237E |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,525,434 (GRCm39) |
S503T |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Efcab5 |
T |
C |
11: 77,079,671 (GRCm39) |
Y25C |
probably damaging |
Het |
Eif3c |
G |
A |
7: 126,156,410 (GRCm39) |
T444I |
possibly damaging |
Het |
Epb41l4b |
G |
T |
4: 57,040,989 (GRCm39) |
N491K |
probably damaging |
Het |
Gm9776 |
A |
T |
13: 94,495,065 (GRCm39) |
|
probably benign |
Het |
Lrcol1 |
A |
C |
5: 110,502,377 (GRCm39) |
E84D |
possibly damaging |
Het |
Lrp1b |
A |
G |
2: 41,360,952 (GRCm39) |
|
probably null |
Het |
Mup5 |
T |
A |
4: 61,752,874 (GRCm39) |
I50L |
probably benign |
Het |
Myo16 |
A |
T |
8: 10,612,212 (GRCm39) |
K1286* |
probably null |
Het |
Pramel22 |
G |
T |
4: 143,382,127 (GRCm39) |
P190T |
probably benign |
Het |
Prss46 |
T |
A |
9: 110,679,102 (GRCm39) |
V101D |
probably damaging |
Het |
Rint1 |
T |
A |
5: 24,005,809 (GRCm39) |
W164R |
probably damaging |
Het |
Rnf139 |
G |
A |
15: 58,771,552 (GRCm39) |
V526I |
probably damaging |
Het |
Rptn |
A |
T |
3: 93,304,140 (GRCm39) |
D491V |
probably damaging |
Het |
Rptn |
A |
G |
3: 93,305,036 (GRCm39) |
T790A |
possibly damaging |
Het |
Scn8a |
T |
C |
15: 100,908,938 (GRCm39) |
L802P |
probably damaging |
Het |
Scrib |
T |
C |
15: 75,936,646 (GRCm39) |
E435G |
probably benign |
Het |
Sdk1 |
C |
A |
5: 142,100,317 (GRCm39) |
T1449K |
possibly damaging |
Het |
Septin7 |
T |
A |
9: 25,210,832 (GRCm39) |
L289M |
probably damaging |
Het |
Spry1 |
A |
G |
3: 37,696,916 (GRCm39) |
Y53C |
probably damaging |
Het |
Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
Vmn2r45 |
T |
G |
7: 8,486,251 (GRCm39) |
T346P |
probably benign |
Het |
Wdr25 |
A |
G |
12: 108,993,382 (GRCm39) |
I533V |
probably benign |
Het |
Zfp292 |
A |
C |
4: 34,805,842 (GRCm39) |
Y2401D |
possibly damaging |
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 |
|
R1392:Tmcc1
|
UTSW |
6 |
115,999,071 (GRCm39) |
missense |
possibly damaging |
0.84 |
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 |
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'- TCCGAATCAGTGAGGCAATCTC -3'
(R):5'- TGCAGCAGAAGATCCTAAAGC -3'
Sequencing Primer
(F):5'- AATCTCTCTGGGTTTGGAGACGAC -3'
(R):5'- GCTGAGTACTTGAAGCTTGCCAAC -3'
|
Posted On |
2016-07-06 |