Incidental Mutation 'R5596:Tmcc2'
ID |
437808 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmcc2
|
Ensembl Gene |
ENSMUSG00000042066 |
Gene Name |
transmembrane and coiled-coil domains 2 |
Synonyms |
1110063G11Rik |
MMRRC Submission |
043148-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
R5596 (G1)
|
Quality Score |
189 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
132284053-132319019 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132288221 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 489
(N489D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045473]
[ENSMUST00000132435]
[ENSMUST00000142609]
|
AlphaFold |
Q80W04 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045473
AA Change: N489D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038369 Gene: ENSMUSG00000042066 AA Change: N489D
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
low complexity region
|
89 |
99 |
N/A |
INTRINSIC |
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
low complexity region
|
164 |
183 |
N/A |
INTRINSIC |
low complexity region
|
253 |
267 |
N/A |
INTRINSIC |
Pfam:Tmemb_cc2
|
283 |
694 |
6.3e-178 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125439
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132435
AA Change: N411D
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118844 Gene: ENSMUSG00000042066 AA Change: N411D
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
low complexity region
|
86 |
105 |
N/A |
INTRINSIC |
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
Pfam:Tmemb_cc2
|
203 |
617 |
1.1e-193 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138717
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142609
AA Change: N254D
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115721 Gene: ENSMUSG00000042066 AA Change: N254D
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
Pfam:Tmemb_cc2
|
46 |
460 |
2.2e-194 |
PFAM |
|
Meta Mutation Damage Score |
0.1380 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.9%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
G |
7: 120,000,972 (GRCm39) |
M1503V |
possibly damaging |
Het |
Abraxas1 |
A |
T |
5: 100,966,403 (GRCm39) |
V53D |
probably damaging |
Het |
Bub1b |
T |
C |
2: 118,461,463 (GRCm39) |
S672P |
probably damaging |
Het |
C1qtnf7 |
A |
T |
5: 43,673,313 (GRCm39) |
|
probably benign |
Het |
Cacng7 |
A |
T |
7: 3,415,420 (GRCm39) |
I262F |
probably benign |
Het |
Capzb |
T |
G |
4: 139,006,738 (GRCm39) |
|
probably benign |
Het |
Ccdc149 |
A |
G |
5: 52,561,493 (GRCm39) |
V229A |
probably damaging |
Het |
Cfap69 |
A |
G |
5: 5,676,020 (GRCm39) |
L225P |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,268,095 (GRCm39) |
T685A |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,611,041 (GRCm39) |
T177M |
probably damaging |
Het |
Creb3l3 |
T |
G |
10: 80,920,881 (GRCm39) |
D383A |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,395,578 (GRCm39) |
I16F |
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,343,754 (GRCm39) |
A2385S |
probably damaging |
Het |
Enox1 |
A |
G |
14: 77,816,493 (GRCm39) |
I158V |
probably benign |
Het |
Erich3 |
A |
T |
3: 154,433,033 (GRCm39) |
T139S |
probably damaging |
Het |
Fam186b |
A |
T |
15: 99,169,170 (GRCm39) |
S926T |
possibly damaging |
Het |
Gjd2 |
C |
A |
2: 113,841,965 (GRCm39) |
V171F |
possibly damaging |
Het |
Helz2 |
A |
T |
2: 180,879,082 (GRCm39) |
|
probably benign |
Het |
Herc1 |
T |
TTN |
9: 66,341,345 (GRCm39) |
|
probably benign |
Het |
Impg1 |
A |
T |
9: 80,252,500 (GRCm39) |
V483E |
probably benign |
Het |
Irx4 |
A |
G |
13: 73,415,799 (GRCm39) |
N196S |
probably damaging |
Het |
Kcnip1 |
T |
C |
11: 33,580,597 (GRCm39) |
D213G |
probably damaging |
Het |
Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
Med12l |
T |
A |
3: 59,159,771 (GRCm39) |
N1273K |
probably benign |
Het |
Musk |
T |
C |
4: 58,373,036 (GRCm39) |
C654R |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,115,951 (GRCm39) |
S274T |
noncoding transcript |
Het |
Omd |
A |
G |
13: 49,745,814 (GRCm39) |
H408R |
probably benign |
Het |
Pbld2 |
C |
T |
10: 62,907,791 (GRCm39) |
A219V |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,381,025 (GRCm39) |
T333S |
probably damaging |
Het |
Pramel32 |
C |
T |
4: 88,548,292 (GRCm39) |
E38K |
probably damaging |
Het |
Ptpn1 |
T |
C |
2: 167,816,683 (GRCm39) |
I246T |
probably damaging |
Het |
Sap18b |
G |
T |
8: 96,551,998 (GRCm39) |
A3S |
unknown |
Het |
Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
Sstr4 |
G |
T |
2: 148,237,652 (GRCm39) |
V88F |
possibly damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
Tnxb |
T |
A |
17: 34,907,778 (GRCm39) |
V1274E |
probably damaging |
Het |
Ube3b |
T |
A |
5: 114,544,221 (GRCm39) |
|
probably null |
Het |
Vwa5a |
A |
T |
9: 38,633,874 (GRCm39) |
I26F |
probably damaging |
Het |
|
Other mutations in Tmcc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00816:Tmcc2
|
APN |
1 |
132,308,436 (GRCm39) |
missense |
probably benign |
|
IGL01991:Tmcc2
|
APN |
1 |
132,288,830 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02259:Tmcc2
|
APN |
1 |
132,288,898 (GRCm39) |
missense |
probably benign |
|
IGL02310:Tmcc2
|
APN |
1 |
132,286,645 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02551:Tmcc2
|
APN |
1 |
132,285,317 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03301:Tmcc2
|
APN |
1 |
132,288,557 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03347:Tmcc2
|
APN |
1 |
132,285,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Tmcc2
|
UTSW |
1 |
132,308,444 (GRCm39) |
missense |
probably benign |
0.10 |
R0233:Tmcc2
|
UTSW |
1 |
132,288,389 (GRCm39) |
missense |
probably damaging |
0.99 |
R0233:Tmcc2
|
UTSW |
1 |
132,288,389 (GRCm39) |
missense |
probably damaging |
0.99 |
R1146:Tmcc2
|
UTSW |
1 |
132,285,493 (GRCm39) |
small deletion |
probably benign |
|
R1146:Tmcc2
|
UTSW |
1 |
132,285,493 (GRCm39) |
small deletion |
probably benign |
|
R1538:Tmcc2
|
UTSW |
1 |
132,308,718 (GRCm39) |
missense |
probably damaging |
0.98 |
R2428:Tmcc2
|
UTSW |
1 |
132,288,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R3907:Tmcc2
|
UTSW |
1 |
132,288,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R4890:Tmcc2
|
UTSW |
1 |
132,308,517 (GRCm39) |
missense |
probably benign |
0.43 |
R5364:Tmcc2
|
UTSW |
1 |
132,285,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R5567:Tmcc2
|
UTSW |
1 |
132,285,543 (GRCm39) |
missense |
probably benign |
0.01 |
R5916:Tmcc2
|
UTSW |
1 |
132,285,429 (GRCm39) |
missense |
probably damaging |
0.98 |
R5931:Tmcc2
|
UTSW |
1 |
132,285,493 (GRCm39) |
small deletion |
probably benign |
|
R6278:Tmcc2
|
UTSW |
1 |
132,286,720 (GRCm39) |
missense |
probably damaging |
0.99 |
R7404:Tmcc2
|
UTSW |
1 |
132,288,759 (GRCm39) |
missense |
probably damaging |
0.98 |
R7806:Tmcc2
|
UTSW |
1 |
132,288,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R7848:Tmcc2
|
UTSW |
1 |
132,288,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R7903:Tmcc2
|
UTSW |
1 |
132,288,199 (GRCm39) |
missense |
probably benign |
0.00 |
R9458:Tmcc2
|
UTSW |
1 |
132,286,747 (GRCm39) |
missense |
probably damaging |
1.00 |
RF012:Tmcc2
|
UTSW |
1 |
132,288,756 (GRCm39) |
missense |
probably damaging |
1.00 |
X0052:Tmcc2
|
UTSW |
1 |
132,288,071 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTTGTGAAGCCAGGAGGTAC -3'
(R):5'- TCATTCGCAACAAGTTCGGC -3'
Sequencing Primer
(F):5'- AGCGCTCTTCTTGCAGG -3'
(R):5'- AACAAGTTCGGCAGTGCC -3'
|
Posted On |
2016-10-26 |