Incidental Mutation 'IGL01455:Tmcc3'
ID |
84752 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmcc3
|
Ensembl Gene |
ENSMUSG00000020023 |
Gene Name |
transmembrane and coiled coil domains 3 |
Synonyms |
A230066D03Rik, LOC380656, C630016B22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01455
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
94147811-94426818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 94422617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 356
(I356F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065060]
[ENSMUST00000117460]
[ENSMUST00000117929]
[ENSMUST00000121471]
|
AlphaFold |
Q8R310 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065060
AA Change: I387F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000063264 Gene: ENSMUSG00000020023 AA Change: I387F
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
65 |
465 |
1.2e-160 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117460
AA Change: I356F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112669 Gene: ENSMUSG00000020023 AA Change: I356F
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117929
AA Change: I356F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112401 Gene: ENSMUSG00000020023 AA Change: I356F
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121471
AA Change: I356F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113122 Gene: ENSMUSG00000020023 AA Change: I356F
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146744
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184071
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,214,131 (GRCm39) |
D87G |
possibly damaging |
Het |
Adgra3 |
G |
A |
5: 50,144,899 (GRCm39) |
R565* |
probably null |
Het |
Akap12 |
C |
T |
10: 4,306,886 (GRCm39) |
T1232I |
probably damaging |
Het |
Arb2a |
A |
T |
13: 78,050,766 (GRCm39) |
|
probably benign |
Het |
B3gnt2 |
A |
T |
11: 22,787,042 (GRCm39) |
W49R |
probably damaging |
Het |
Ccdc112 |
T |
A |
18: 46,426,511 (GRCm39) |
K137N |
possibly damaging |
Het |
Ccdc117 |
G |
T |
11: 5,484,297 (GRCm39) |
T181K |
possibly damaging |
Het |
Cfh |
T |
C |
1: 140,033,277 (GRCm39) |
K756E |
possibly damaging |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Cyp2c29 |
T |
A |
19: 39,317,561 (GRCm39) |
I349K |
possibly damaging |
Het |
Dcaf15 |
T |
C |
8: 84,825,219 (GRCm39) |
T434A |
probably benign |
Het |
Entpd5 |
T |
C |
12: 84,441,451 (GRCm39) |
I106V |
probably benign |
Het |
Eps8l1 |
T |
A |
7: 4,481,922 (GRCm39) |
|
probably benign |
Het |
Erbin |
G |
T |
13: 103,995,895 (GRCm39) |
P269Q |
probably damaging |
Het |
Fbxw22 |
C |
T |
9: 109,214,062 (GRCm39) |
M251I |
probably benign |
Het |
Fgd4 |
T |
A |
16: 16,308,354 (GRCm39) |
T9S |
probably benign |
Het |
Haus8 |
T |
C |
8: 71,705,875 (GRCm39) |
I270V |
probably benign |
Het |
Herc4 |
T |
A |
10: 63,121,922 (GRCm39) |
|
probably null |
Het |
Hspg2 |
G |
A |
4: 137,281,128 (GRCm39) |
V3367M |
probably damaging |
Het |
Htr1f |
A |
T |
16: 64,746,385 (GRCm39) |
F302L |
probably damaging |
Het |
Inpp5f |
T |
C |
7: 128,279,773 (GRCm39) |
C458R |
probably damaging |
Het |
Klhl18 |
T |
C |
9: 110,261,511 (GRCm39) |
E411G |
probably damaging |
Het |
Krt20 |
A |
T |
11: 99,322,769 (GRCm39) |
F289I |
probably benign |
Het |
Mical1 |
T |
C |
10: 41,355,065 (GRCm39) |
|
probably null |
Het |
Nav1 |
T |
C |
1: 135,397,373 (GRCm39) |
D932G |
probably benign |
Het |
Nme4 |
A |
T |
17: 26,311,036 (GRCm39) |
D176E |
probably benign |
Het |
Nox4 |
C |
T |
7: 87,025,424 (GRCm39) |
S517L |
possibly damaging |
Het |
Or1j13 |
A |
T |
2: 36,369,368 (GRCm39) |
L258H |
probably damaging |
Het |
Pate8 |
T |
A |
9: 36,492,659 (GRCm39) |
H82L |
probably benign |
Het |
Pip5k1a |
T |
C |
3: 94,975,471 (GRCm39) |
D333G |
probably benign |
Het |
Polb |
T |
C |
8: 23,143,088 (GRCm39) |
Y36C |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,030,877 (GRCm39) |
I953T |
possibly damaging |
Het |
Sptb |
A |
T |
12: 76,659,686 (GRCm39) |
D1071E |
probably damaging |
Het |
Stxbp3-ps |
T |
C |
19: 9,535,371 (GRCm39) |
|
noncoding transcript |
Het |
Tmem262 |
G |
T |
19: 6,130,189 (GRCm39) |
R6L |
probably damaging |
Het |
Tnks |
C |
A |
8: 35,408,054 (GRCm39) |
V225L |
probably damaging |
Het |
|
Other mutations in Tmcc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01347:Tmcc3
|
APN |
10 |
94,418,147 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02376:Tmcc3
|
APN |
10 |
94,414,429 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03073:Tmcc3
|
APN |
10 |
94,414,813 (GRCm39) |
missense |
probably benign |
0.40 |
IGL03348:Tmcc3
|
APN |
10 |
94,414,942 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0131:Tmcc3
|
UTSW |
10 |
94,381,437 (GRCm39) |
splice site |
probably benign |
|
R0360:Tmcc3
|
UTSW |
10 |
94,414,407 (GRCm39) |
missense |
probably benign |
|
R0840:Tmcc3
|
UTSW |
10 |
94,414,633 (GRCm39) |
missense |
probably benign |
0.05 |
R1994:Tmcc3
|
UTSW |
10 |
94,414,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1995:Tmcc3
|
UTSW |
10 |
94,414,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2184:Tmcc3
|
UTSW |
10 |
94,418,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R2197:Tmcc3
|
UTSW |
10 |
94,414,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R2273:Tmcc3
|
UTSW |
10 |
94,414,777 (GRCm39) |
missense |
probably damaging |
0.97 |
R2274:Tmcc3
|
UTSW |
10 |
94,414,777 (GRCm39) |
missense |
probably damaging |
0.97 |
R3763:Tmcc3
|
UTSW |
10 |
94,415,179 (GRCm39) |
missense |
probably benign |
0.42 |
R4690:Tmcc3
|
UTSW |
10 |
94,381,419 (GRCm39) |
utr 5 prime |
probably benign |
|
R4763:Tmcc3
|
UTSW |
10 |
94,415,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R4816:Tmcc3
|
UTSW |
10 |
94,414,646 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5385:Tmcc3
|
UTSW |
10 |
94,415,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R6177:Tmcc3
|
UTSW |
10 |
94,418,249 (GRCm39) |
missense |
probably damaging |
0.97 |
R6636:Tmcc3
|
UTSW |
10 |
94,414,286 (GRCm39) |
missense |
probably benign |
0.14 |
R6898:Tmcc3
|
UTSW |
10 |
94,387,034 (GRCm39) |
splice site |
probably null |
|
R7128:Tmcc3
|
UTSW |
10 |
94,266,496 (GRCm39) |
start gained |
probably benign |
|
R7313:Tmcc3
|
UTSW |
10 |
94,266,434 (GRCm39) |
start gained |
probably benign |
|
R7320:Tmcc3
|
UTSW |
10 |
94,414,357 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7456:Tmcc3
|
UTSW |
10 |
94,418,174 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7874:Tmcc3
|
UTSW |
10 |
94,386,889 (GRCm39) |
critical splice donor site |
probably null |
|
R7876:Tmcc3
|
UTSW |
10 |
94,414,397 (GRCm39) |
missense |
probably benign |
0.03 |
R8098:Tmcc3
|
UTSW |
10 |
94,415,078 (GRCm39) |
missense |
probably benign |
0.00 |
R8274:Tmcc3
|
UTSW |
10 |
94,422,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R8276:Tmcc3
|
UTSW |
10 |
94,418,170 (GRCm39) |
missense |
probably damaging |
0.97 |
R8939:Tmcc3
|
UTSW |
10 |
94,381,483 (GRCm39) |
intron |
probably benign |
|
R9418:Tmcc3
|
UTSW |
10 |
94,415,087 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Posted On |
2013-11-11 |