Incidental Mutation 'R1155:Tmem178'
ID |
101694 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem178
|
Ensembl Gene |
ENSMUSG00000024245 |
Gene Name |
transmembrane protein 178 |
Synonyms |
2810417M05Rik |
MMRRC Submission |
039228-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R1155 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
81252061-81309245 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 81308429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 275
(C275S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025092]
|
AlphaFold |
Q9CZ16 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025092
AA Change: C275S
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000025092 Gene: ENSMUSG00000024245 AA Change: C275S
Domain | Start | End | E-Value | Type |
Pfam:Claudin_2
|
16 |
277 |
1.1e-21 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.6%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased bone mass, osteopenia, and increased osteoclast differentiation under basal and inflammatory conditions. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
C |
11: 23,467,270 (GRCm39) |
E121G |
possibly damaging |
Het |
Abtb3 |
A |
T |
10: 85,465,155 (GRCm39) |
H665L |
probably damaging |
Het |
Adgrg1 |
G |
A |
8: 95,733,468 (GRCm39) |
V307I |
possibly damaging |
Het |
Cilp |
A |
G |
9: 65,176,869 (GRCm39) |
T42A |
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,722,047 (GRCm39) |
K1493M |
probably null |
Het |
Col6a6 |
A |
G |
9: 105,659,289 (GRCm39) |
V552A |
possibly damaging |
Het |
Cradd |
T |
C |
10: 95,158,586 (GRCm39) |
T54A |
probably benign |
Het |
Elfn2 |
A |
G |
15: 78,557,344 (GRCm39) |
I401T |
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Hoxc6 |
A |
G |
15: 102,919,279 (GRCm39) |
I172V |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,901,635 (GRCm39) |
L1112P |
possibly damaging |
Het |
Lipo4 |
T |
A |
19: 33,480,595 (GRCm39) |
I258F |
probably benign |
Het |
Morf4l1 |
A |
G |
9: 89,976,557 (GRCm39) |
V257A |
probably benign |
Het |
Or51a8 |
A |
T |
7: 102,549,819 (GRCm39) |
M82L |
probably benign |
Het |
Rnpepl1 |
T |
A |
1: 92,844,609 (GRCm39) |
M367K |
probably damaging |
Het |
Robo2 |
A |
G |
16: 73,831,996 (GRCm39) |
L228P |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,376,939 (GRCm39) |
E107D |
probably benign |
Het |
Shc1 |
A |
G |
3: 89,332,126 (GRCm39) |
I194V |
probably benign |
Het |
Slc25a46 |
A |
G |
18: 31,716,668 (GRCm39) |
I278T |
probably benign |
Het |
Tpsg1 |
A |
T |
17: 25,592,768 (GRCm39) |
Q40L |
possibly damaging |
Het |
Trank1 |
A |
G |
9: 111,196,038 (GRCm39) |
E1354G |
possibly damaging |
Het |
Vit |
T |
C |
17: 78,873,456 (GRCm39) |
I44T |
probably damaging |
Het |
Vstm5 |
T |
C |
9: 15,168,849 (GRCm39) |
S138P |
probably damaging |
Het |
|
Other mutations in Tmem178 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02249:Tmem178
|
APN |
17 |
81,297,235 (GRCm39) |
missense |
probably damaging |
0.99 |
R0603:Tmem178
|
UTSW |
17 |
81,252,488 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4169:Tmem178
|
UTSW |
17 |
81,252,232 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4503:Tmem178
|
UTSW |
17 |
81,293,693 (GRCm39) |
missense |
probably benign |
0.03 |
R4863:Tmem178
|
UTSW |
17 |
81,252,374 (GRCm39) |
missense |
probably benign |
0.00 |
R5919:Tmem178
|
UTSW |
17 |
81,297,187 (GRCm39) |
missense |
probably damaging |
0.99 |
R7442:Tmem178
|
UTSW |
17 |
81,252,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R7464:Tmem178
|
UTSW |
17 |
81,252,331 (GRCm39) |
missense |
probably benign |
|
R7986:Tmem178
|
UTSW |
17 |
81,308,273 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9757:Tmem178
|
UTSW |
17 |
81,308,289 (GRCm39) |
missense |
probably damaging |
1.00 |
X0003:Tmem178
|
UTSW |
17 |
81,293,617 (GRCm39) |
missense |
probably benign |
0.16 |
Z1177:Tmem178
|
UTSW |
17 |
81,252,503 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
|
Posted On |
2014-01-15 |