Incidental Mutation 'IGL02858:Tmcc1'
| ID |
362049 |
| 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: 0.367)
|
| Stock # |
IGL02858
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
115995572-116170447 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116110849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 148
(V148A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088896]
[ENSMUST00000173031]
[ENSMUST00000173110]
|
| AlphaFold |
Q69ZZ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032222
AA Change: V144A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032222
Gene: ENSMUSG00000030126
AA Change: V144A
| 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 benign
Transcript: ENSMUST00000088896
AA Change: V148A
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000086285
Gene: ENSMUSG00000030126
AA Change: V148A
| 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 |
unknown
Transcript: ENSMUST00000172909
AA Change: V5A
|
| SMART Domains |
Protein: ENSMUSP00000134407
Gene: ENSMUSG00000030126
AA Change: V5A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173031
AA Change: V148A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134148
Gene: ENSMUSG00000030126
AA Change: V148A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173110
AA Change: V148A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133794
Gene: ENSMUSG00000030126
AA Change: V148A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
156 |
167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204637
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,596,599 (GRCm39) |
V126A |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,119,130 (GRCm39) |
Y3546H |
possibly damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arhgap45 |
C |
A |
10: 79,853,768 (GRCm39) |
T94N |
probably benign |
Het |
| Arid1b |
T |
C |
17: 5,392,166 (GRCm39) |
S1899P |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 79,980,601 (GRCm39) |
V2E |
probably damaging |
Het |
| Calr |
A |
T |
8: 85,571,528 (GRCm39) |
V155E |
probably benign |
Het |
| Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cetn1 |
T |
C |
18: 9,619,422 (GRCm39) |
|
probably benign |
Het |
| Chl1 |
A |
T |
6: 103,618,949 (GRCm39) |
L6F |
probably damaging |
Het |
| Chrnb1 |
C |
T |
11: 69,675,935 (GRCm39) |
V436I |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,506,204 (GRCm39) |
E292G |
unknown |
Het |
| Ddx56 |
A |
G |
11: 6,217,667 (GRCm39) |
L18P |
probably damaging |
Het |
| Dhx36 |
A |
C |
3: 62,384,797 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,453,358 (GRCm39) |
R4376S |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,185,582 (GRCm39) |
D113V |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,512,118 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
T |
A |
4: 98,833,442 (GRCm39) |
K1920* |
probably null |
Het |
| Dysf |
A |
G |
6: 84,076,471 (GRCm39) |
D628G |
probably benign |
Het |
| Exoc3l2 |
A |
G |
7: 19,229,109 (GRCm39) |
I176V |
probably benign |
Het |
| Fcrl1 |
A |
G |
3: 87,292,012 (GRCm39) |
Y57C |
probably damaging |
Het |
| Fzd4 |
C |
T |
7: 89,057,162 (GRCm39) |
T403M |
probably damaging |
Het |
| Gpr171 |
A |
T |
3: 59,005,288 (GRCm39) |
N162K |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,206,924 (GRCm39) |
K132* |
probably null |
Het |
| Itgb2l |
A |
T |
16: 96,223,850 (GRCm39) |
W730R |
possibly damaging |
Het |
| Jmjd8 |
T |
C |
17: 26,049,134 (GRCm39) |
F230S |
probably damaging |
Het |
| Krt72 |
G |
A |
15: 101,690,556 (GRCm39) |
T232M |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,740,540 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
A |
C |
2: 31,900,384 (GRCm39) |
|
probably benign |
Het |
| Or11g7 |
A |
T |
14: 50,690,507 (GRCm39) |
|
probably benign |
Het |
| Or7d10 |
A |
G |
9: 19,831,747 (GRCm39) |
M81V |
probably damaging |
Het |
| Or8c20 |
A |
G |
9: 38,260,469 (GRCm39) |
Q24R |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,095,822 (GRCm39) |
Y113C |
probably damaging |
Het |
| Pdgfra |
T |
A |
5: 75,355,635 (GRCm39) |
S1048R |
probably damaging |
Het |
| Sall3 |
G |
T |
18: 81,012,728 (GRCm39) |
A1236E |
probably damaging |
Het |
| Sipa1 |
T |
C |
19: 5,705,736 (GRCm39) |
T411A |
probably damaging |
Het |
| Thsd7a |
T |
G |
6: 12,500,994 (GRCm39) |
D471A |
probably benign |
Het |
| Tm2d1 |
T |
A |
4: 98,263,192 (GRCm39) |
E100D |
probably damaging |
Het |
| Tubgcp6 |
A |
T |
15: 88,986,518 (GRCm39) |
Y19* |
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,783,203 (GRCm39) |
Y713C |
probably damaging |
Het |
| Uevld |
A |
G |
7: 46,605,377 (GRCm39) |
V39A |
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,484,003 (GRCm39) |
H732Q |
probably damaging |
Het |
| Zfp629 |
A |
T |
7: 127,209,484 (GRCm39) |
F775Y |
probably 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 |
|
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 |
2015-12-18 |
Incidental Mutation