Incidental Mutation 'IGL01023:Tmcc1'
| ID |
53634 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmcc1
|
| Ensembl Gene |
ENSMUSG00000030126 |
| Gene Name |
transmembrane and coiled coil domains 1 |
| Synonyms |
3632431M01Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.302)
|
| Stock # |
IGL01023
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
115995572-116170447 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116019988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 128
(L128P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088896]
[ENSMUST00000172510]
[ENSMUST00000173110]
[ENSMUST00000173140]
[ENSMUST00000173548]
[ENSMUST00000204353]
|
| AlphaFold |
Q69ZZ6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000032222
AA Change: L488P
|
| SMART Domains |
Protein: ENSMUSP00000032222
Gene: ENSMUSG00000030126
AA Change: L488P
| 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: L448P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000086285
Gene: ENSMUSG00000030126
AA Change: L448P
| 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 damaging
Transcript: ENSMUST00000172510
AA Change: L128P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133665
Gene: ENSMUSG00000030126
AA Change: L128P
| 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 damaging
Transcript: ENSMUST00000173140
AA Change: L128P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134455
Gene: ENSMUSG00000030126
AA Change: L128P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
1 |
79 |
6.1e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173548
AA Change: L269P
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145456
Gene: ENSMUSG00000030126
AA Change: L269P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
48 |
457 |
1.5e-167 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204353
AA Change: L273P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144971
Gene: ENSMUSG00000030126
AA Change: L273P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
52 |
461 |
8.3e-171 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,471,649 (GRCm39) |
L1472P |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,906,809 (GRCm39) |
V1151M |
probably damaging |
Het |
| Crmp1 |
A |
T |
5: 37,433,657 (GRCm39) |
D286V |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,395,548 (GRCm39) |
I162F |
probably damaging |
Het |
| Fam24b |
A |
T |
7: 130,927,903 (GRCm39) |
C95* |
probably null |
Het |
| Fsd1 |
A |
G |
17: 56,295,245 (GRCm39) |
Y78C |
probably damaging |
Het |
| Galc |
C |
T |
12: 98,197,681 (GRCm39) |
V343I |
probably benign |
Het |
| Glis2 |
C |
T |
16: 4,429,514 (GRCm39) |
R214C |
probably damaging |
Het |
| Gm14406 |
A |
T |
2: 177,261,032 (GRCm39) |
C416S |
probably damaging |
Het |
| Gnat3 |
T |
C |
5: 18,208,826 (GRCm39) |
S177P |
probably damaging |
Het |
| Higd1a |
C |
T |
9: 121,678,749 (GRCm39) |
G80D |
possibly damaging |
Het |
| Hp1bp3 |
T |
C |
4: 137,967,940 (GRCm39) |
V421A |
possibly damaging |
Het |
| Ipo11 |
A |
T |
13: 107,033,767 (GRCm39) |
F238L |
probably benign |
Het |
| Med26 |
A |
T |
8: 73,249,718 (GRCm39) |
F460L |
possibly damaging |
Het |
| Or5as1 |
T |
A |
2: 86,980,169 (GRCm39) |
T279S |
possibly damaging |
Het |
| Osbp2 |
T |
C |
11: 3,813,387 (GRCm39) |
I161V |
probably benign |
Het |
| Prr5 |
T |
C |
15: 84,583,856 (GRCm39) |
V152A |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,218,844 (GRCm39) |
I1115K |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,810,690 (GRCm39) |
I708M |
probably benign |
Het |
| Robo3 |
T |
C |
9: 37,340,847 (GRCm39) |
T120A |
probably damaging |
Het |
| Setd2 |
C |
A |
9: 110,376,581 (GRCm39) |
S132* |
probably null |
Het |
| Slc9a1 |
A |
G |
4: 133,149,454 (GRCm39) |
E760G |
probably benign |
Het |
| Slco1a7 |
A |
G |
6: 141,700,155 (GRCm39) |
S126P |
probably benign |
Het |
| Stx16 |
A |
T |
2: 173,934,202 (GRCm39) |
H135L |
probably damaging |
Het |
| Tas2r131 |
A |
T |
6: 132,934,764 (GRCm39) |
L15Q |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,668,366 (GRCm39) |
W963R |
probably damaging |
Het |
| Tmem269 |
C |
A |
4: 119,066,511 (GRCm39) |
M182I |
probably benign |
Het |
| Tnfaip8l2 |
A |
G |
3: 95,047,726 (GRCm39) |
S46P |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,179 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,469 (GRCm39) |
E184K |
probably benign |
Het |
| Wfs1 |
A |
T |
5: 37,125,261 (GRCm39) |
C467* |
probably null |
Het |
| Zfp78 |
G |
A |
7: 6,378,587 (GRCm39) |
G77D |
possibly damaging |
Het |
|
| Other mutations in Tmcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation