Incidental Mutation 'R2399:Tmcc1'
| ID |
248629 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2399 (G1)
|
| Quality Score |
111 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
115995572-116170447 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
C to CAT
at 116019831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088896]
[ENSMUST00000172510]
[ENSMUST00000173110]
[ENSMUST00000173140]
[ENSMUST00000173548]
[ENSMUST00000204353]
|
| AlphaFold |
Q69ZZ6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032222
|
| SMART Domains |
Protein: ENSMUSP00000032222
Gene: ENSMUSG00000030126
| 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 null
Transcript: ENSMUST00000088896
|
| SMART Domains |
Protein: ENSMUSP00000086285
Gene: ENSMUSG00000030126
| 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 null
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 null
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 null
Transcript: ENSMUST00000173548
|
| SMART Domains |
Protein: ENSMUSP00000145456
Gene: ENSMUSG00000030126
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
48 |
457 |
1.5e-167 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204353
|
| SMART Domains |
Protein: ENSMUSP00000144971
Gene: ENSMUSG00000030126
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
52 |
461 |
8.3e-171 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,120,338 (GRCm39) |
E365G |
probably damaging |
Het |
| Abtb1 |
G |
A |
6: 88,815,720 (GRCm39) |
T221M |
possibly damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,835,785 (GRCm39) |
I510N |
probably benign |
Het |
| Atr |
T |
A |
9: 95,753,652 (GRCm39) |
H751Q |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,774,444 (GRCm39) |
D1650G |
probably benign |
Het |
| Cd93 |
A |
G |
2: 148,284,071 (GRCm39) |
I425T |
probably benign |
Het |
| Dpep2 |
A |
G |
8: 106,716,224 (GRCm39) |
S135P |
probably damaging |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Heatr4 |
T |
C |
12: 84,027,107 (GRCm39) |
H50R |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,650,358 (GRCm39) |
Y135H |
probably damaging |
Het |
| Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
T |
C |
16: 48,957,952 (GRCm39) |
I923T |
probably damaging |
Het |
| Or5b108 |
T |
A |
19: 13,168,709 (GRCm39) |
I226K |
probably benign |
Het |
| Or7e170 |
C |
T |
9: 19,795,220 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or7g16 |
T |
A |
9: 18,727,323 (GRCm39) |
D89V |
probably benign |
Het |
| Styxl1 |
C |
T |
5: 135,776,635 (GRCm39) |
E318K |
possibly damaging |
Het |
| Zc3h7a |
G |
A |
16: 10,965,265 (GRCm39) |
R623C |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,030,974 (GRCm39) |
K989E |
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 |
|
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 |
|
|
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'- CGCGTTAAAGTCATAAACTGGG -3'
(R):5'- GTAGGAGCCAACAGTACCAC -3'
Sequencing Primer
(F):5'- AAGAAATGTTGCATCTGTGTGTGATC -3'
(R):5'- AGTACCACTGGGGGCATTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation