Incidental Mutation 'R2214:Tmcc1'
ID |
241012 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmcc1
|
Ensembl Gene |
ENSMUSG00000030126 |
Gene Name |
transmembrane and coiled coil domains 1 |
Synonyms |
3632431M01Rik |
MMRRC Submission |
040216-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.302)
|
Stock # |
R2214 (G1)
|
Quality Score |
101 |
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
T |
C |
16: 30,926,946 (GRCm39) |
Y516C |
probably benign |
Het |
Adam22 |
C |
T |
5: 8,186,805 (GRCm39) |
|
probably null |
Het |
Akap8l |
T |
C |
17: 32,557,799 (GRCm39) |
|
probably null |
Het |
Casr |
T |
C |
16: 36,336,120 (GRCm39) |
Y63C |
probably damaging |
Het |
Ccdc178 |
T |
C |
18: 22,048,047 (GRCm39) |
D781G |
possibly damaging |
Het |
Col9a1 |
C |
A |
1: 24,247,283 (GRCm39) |
P168Q |
probably damaging |
Het |
Dnm2 |
T |
C |
9: 21,397,019 (GRCm39) |
|
probably null |
Het |
Dst |
C |
T |
1: 34,310,482 (GRCm39) |
T6325M |
probably damaging |
Het |
Ercc4 |
C |
A |
16: 12,927,888 (GRCm39) |
D19E |
probably damaging |
Het |
Gm1110 |
C |
A |
9: 26,813,786 (GRCm39) |
V198L |
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,396 (GRCm39) |
|
noncoding transcript |
Het |
Grm7 |
A |
T |
6: 111,335,958 (GRCm39) |
I790F |
probably damaging |
Het |
Habp2 |
A |
G |
19: 56,306,249 (GRCm39) |
D445G |
possibly damaging |
Het |
Kat7 |
G |
A |
11: 95,166,631 (GRCm39) |
T517I |
probably damaging |
Het |
Kbtbd11 |
T |
A |
8: 15,079,178 (GRCm39) |
D592E |
possibly damaging |
Het |
Lgals8 |
T |
A |
13: 12,469,713 (GRCm39) |
Q82L |
probably benign |
Het |
Lmtk3 |
A |
G |
7: 45,444,277 (GRCm39) |
|
probably benign |
Het |
Map2 |
A |
T |
1: 66,459,345 (GRCm39) |
D1530V |
probably damaging |
Het |
Map2k6 |
G |
A |
11: 110,387,167 (GRCm39) |
V180I |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 19,902,035 (GRCm39) |
|
probably null |
Het |
Mtor |
A |
G |
4: 148,623,327 (GRCm39) |
E2059G |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,673,953 (GRCm39) |
D660G |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,488,803 (GRCm39) |
V658E |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,953,487 (GRCm39) |
S1090T |
possibly damaging |
Het |
Nhlrc3 |
T |
C |
3: 53,363,875 (GRCm39) |
H217R |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,166,520 (GRCm39) |
I118F |
probably damaging |
Het |
Or14a259 |
T |
A |
7: 86,013,414 (GRCm39) |
I44F |
probably benign |
Het |
Or1e29 |
A |
T |
11: 73,667,655 (GRCm39) |
L166* |
probably null |
Het |
Or4p20 |
C |
T |
2: 88,253,461 (GRCm39) |
V303M |
probably benign |
Het |
Paxip1 |
T |
C |
5: 27,947,499 (GRCm39) |
Y1053C |
probably damaging |
Het |
Pfkfb4 |
T |
A |
9: 108,834,677 (GRCm39) |
F117I |
probably benign |
Het |
Pp2d1 |
T |
C |
17: 53,822,424 (GRCm39) |
Y214C |
probably benign |
Het |
Prr7 |
C |
A |
13: 55,620,613 (GRCm39) |
S207* |
probably null |
Het |
Ptprh |
T |
A |
7: 4,555,921 (GRCm39) |
Q715L |
possibly damaging |
Het |
Rasgrp1 |
A |
T |
2: 117,115,646 (GRCm39) |
D647E |
probably damaging |
Het |
Rnf20 |
T |
A |
4: 49,648,344 (GRCm39) |
M384K |
possibly damaging |
Het |
Rps6kb1 |
A |
T |
11: 86,424,896 (GRCm39) |
C37S |
possibly damaging |
Het |
Serpinb9f |
C |
A |
13: 33,518,592 (GRCm39) |
T364K |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,285,075 (GRCm39) |
A641T |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,035,719 (GRCm39) |
|
probably benign |
Het |
Stag3 |
C |
T |
5: 138,299,528 (GRCm39) |
S849L |
possibly damaging |
Het |
Syt15 |
A |
T |
14: 33,944,989 (GRCm39) |
S179C |
probably damaging |
Het |
Tapbp |
T |
C |
17: 34,139,300 (GRCm39) |
F90L |
possibly damaging |
Het |
Timm23 |
A |
T |
14: 31,920,944 (GRCm39) |
D49E |
probably damaging |
Het |
Tmem174 |
A |
C |
13: 98,773,757 (GRCm39) |
S24R |
possibly damaging |
Het |
Tmem63a |
A |
G |
1: 180,788,679 (GRCm39) |
S339G |
probably benign |
Het |
Tsc22d2 |
A |
G |
3: 58,323,627 (GRCm39) |
Y173C |
probably damaging |
Het |
Ubap2 |
A |
G |
4: 41,199,714 (GRCm39) |
|
probably null |
Het |
Upp1 |
T |
A |
11: 9,086,033 (GRCm39) |
V290E |
probably benign |
Het |
Uqcc4 |
T |
C |
17: 25,403,699 (GRCm39) |
V13A |
probably benign |
Het |
Usp17lb |
A |
T |
7: 104,490,639 (GRCm39) |
M96K |
probably benign |
Het |
Wdr20rt |
A |
G |
12: 65,274,187 (GRCm39) |
E449G |
probably damaging |
Het |
Zkscan8 |
A |
T |
13: 21,705,082 (GRCm39) |
S286T |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCGTTAAAGTCATAAACTGGG -3'
(R):5'- GTAGGAGCCAACAGTACCAC -3'
Sequencing Primer
(F):5'- AAGAAATGTTGCATCTGTGTGTGATC -3'
(R):5'- AGTACCACTGGGGGCATTG -3'
|
Posted On |
2014-10-15 |