Incidental Mutation 'R4638:Tmem198'
ID |
350776 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem198
|
Ensembl Gene |
ENSMUSG00000051703 |
Gene Name |
transmembrane protein 198 |
Synonyms |
A230078I05Rik, Tmem198-1, Tmem198a |
MMRRC Submission |
041900-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.439)
|
Stock # |
R4638 (G1)
|
Quality Score |
175 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
75456176-75462349 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 75456351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 2
(G2*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140795
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050899]
[ENSMUST00000079205]
[ENSMUST00000094818]
[ENSMUST00000113575]
[ENSMUST00000124042]
[ENSMUST00000138683]
[ENSMUST00000187411]
[ENSMUST00000148980]
|
AlphaFold |
Q8BG75 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050899
|
SMART Domains |
Protein: ENSMUSP00000057865 Gene: ENSMUSG00000051703
Domain | Start | End | E-Value | Type |
Pfam:DUF4203
|
40 |
236 |
7.2e-51 |
PFAM |
low complexity region
|
252 |
302 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000079205
|
SMART Domains |
Protein: ENSMUSP00000078199 Gene: ENSMUSG00000032997
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
Pfam:CHGN
|
262 |
761 |
5e-150 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000094818
|
SMART Domains |
Protein: ENSMUSP00000092412 Gene: ENSMUSG00000032997
Domain | Start | End | E-Value | Type |
Pfam:CHGN
|
100 |
599 |
3.3e-174 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113575
|
SMART Domains |
Protein: ENSMUSP00000109205 Gene: ENSMUSG00000051703
Domain | Start | End | E-Value | Type |
Pfam:DUF4203
|
39 |
237 |
2.2e-59 |
PFAM |
low complexity region
|
252 |
302 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124042
|
SMART Domains |
Protein: ENSMUSP00000122057 Gene: ENSMUSG00000032997
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138683
|
SMART Domains |
Protein: ENSMUSP00000117253 Gene: ENSMUSG00000032997
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000187411
AA Change: G2*
|
SMART Domains |
Protein: ENSMUSP00000140795 Gene: ENSMUSG00000051703 AA Change: G2*
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
Pfam:DUF4203
|
101 |
142 |
6.9e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148980
AA Change: R32L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000116977 Gene: ENSMUSG00000051703 AA Change: R32L
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
Pfam:DUF4203
|
119 |
150 |
6.6e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156499
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
91% (40/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
A |
G |
17: 84,999,369 (GRCm39) |
D155G |
probably damaging |
Het |
Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
B4galt7 |
T |
C |
13: 55,747,959 (GRCm39) |
|
probably benign |
Het |
Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
Krba1 |
T |
A |
6: 48,386,685 (GRCm39) |
L441* |
probably null |
Het |
Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
Lnpep |
G |
A |
17: 17,795,569 (GRCm39) |
T314I |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
Nek7 |
A |
T |
1: 138,472,038 (GRCm39) |
F34Y |
probably benign |
Het |
Or12e7 |
T |
C |
2: 87,288,327 (GRCm39) |
S273P |
possibly damaging |
Het |
Or2ag17 |
A |
T |
7: 106,390,205 (GRCm39) |
M1K |
probably null |
Het |
Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
Pth1r |
A |
G |
9: 110,556,141 (GRCm39) |
L244P |
possibly damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
Slc7a10 |
A |
G |
7: 34,897,355 (GRCm39) |
E262G |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
probably damaging |
Het |
|
Other mutations in Tmem198 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01451:Tmem198
|
APN |
1 |
75,461,014 (GRCm39) |
unclassified |
probably benign |
|
IGL03033:Tmem198
|
APN |
1 |
75,459,612 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1165:Tmem198
|
UTSW |
1 |
75,456,576 (GRCm39) |
intron |
probably benign |
|
R1876:Tmem198
|
UTSW |
1 |
75,461,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R5320:Tmem198
|
UTSW |
1 |
75,456,500 (GRCm39) |
missense |
probably benign |
|
R6369:Tmem198
|
UTSW |
1 |
75,456,387 (GRCm39) |
missense |
probably benign |
0.00 |
R6601:Tmem198
|
UTSW |
1 |
75,457,017 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7455:Tmem198
|
UTSW |
1 |
75,456,430 (GRCm39) |
missense |
unknown |
|
R8027:Tmem198
|
UTSW |
1 |
75,456,706 (GRCm39) |
intron |
probably benign |
|
R8163:Tmem198
|
UTSW |
1 |
75,459,671 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8502:Tmem198
|
UTSW |
1 |
75,459,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R9191:Tmem198
|
UTSW |
1 |
75,456,426 (GRCm39) |
missense |
unknown |
|
R9329:Tmem198
|
UTSW |
1 |
75,456,522 (GRCm39) |
missense |
probably damaging |
0.99 |
R9664:Tmem198
|
UTSW |
1 |
75,459,272 (GRCm39) |
missense |
possibly damaging |
0.71 |
Z1088:Tmem198
|
UTSW |
1 |
75,456,906 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- GATGACGTCAGAAGCAGCC -3'
(R):5'- AATTGTCCAAGATCTACCTGGG -3'
Sequencing Primer
(F):5'- CCTGCCAGGATGGTGCAC -3'
(R):5'- AAGATCTACCTGGGCCGGAG -3'
|
Posted On |
2015-10-08 |