Incidental Mutation 'IGL03033:Tmem198'
ID |
408547 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem198
|
Ensembl Gene |
ENSMUSG00000051703 |
Gene Name |
transmembrane protein 198 |
Synonyms |
A230078I05Rik, Tmem198-1, Tmem198a |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.439)
|
Stock # |
IGL03033
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
75456176-75462349 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75459612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 189
(D189G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109205
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050899]
[ENSMUST00000079205]
[ENSMUST00000094818]
[ENSMUST00000113567]
[ENSMUST00000113575]
[ENSMUST00000124042]
[ENSMUST00000138683]
[ENSMUST00000148980]
[ENSMUST00000187411]
|
AlphaFold |
Q8BG75 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050899
AA Change: D189G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000057865 Gene: ENSMUSG00000051703 AA Change: D189G
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 benign
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 benign
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: ENSMUST00000113567
|
SMART Domains |
Protein: ENSMUSP00000109197 Gene: ENSMUSG00000026211
Domain | Start | End | E-Value | Type |
IGc2
|
24 |
91 |
1.23e-12 |
SMART |
IGc2
|
140 |
216 |
2.33e-13 |
SMART |
IGc2
|
258 |
326 |
1.48e-6 |
SMART |
IG
|
347 |
427 |
9.49e-5 |
SMART |
IG
|
435 |
511 |
1.04e-1 |
SMART |
FN3
|
518 |
601 |
6.6e-2 |
SMART |
PDB:2E6Q|A
|
608 |
714 |
8e-57 |
PDB |
Blast:IG_like
|
622 |
711 |
3e-50 |
BLAST |
IG
|
723 |
804 |
3.79e-4 |
SMART |
IG
|
814 |
893 |
2.58e-6 |
SMART |
IGc2
|
911 |
977 |
1.12e-6 |
SMART |
IG
|
996 |
1075 |
1.27e-5 |
SMART |
IGc2
|
1094 |
1160 |
4.07e-4 |
SMART |
IGc2
|
1186 |
1252 |
9.49e-5 |
SMART |
IG
|
1274 |
1353 |
7.41e-7 |
SMART |
IG
|
1363 |
1444 |
1.15e-3 |
SMART |
IG
|
1454 |
1533 |
8.33e-1 |
SMART |
IGc2
|
1549 |
1615 |
8.72e-4 |
SMART |
IG
|
1633 |
1712 |
1e-3 |
SMART |
IG
|
1723 |
1802 |
3.82e-9 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113575
AA Change: D189G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109205 Gene: ENSMUSG00000051703 AA Change: D189G
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 |
noncoding transcript
Transcript: ENSMUST00000143496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156705
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154636
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156499
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148980
|
SMART Domains |
Protein: ENSMUSP00000116977 Gene: ENSMUSG00000051703
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
Pfam:DUF4203
|
119 |
150 |
6.6e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187411
|
SMART Domains |
Protein: ENSMUSP00000140795 Gene: ENSMUSG00000051703
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
Pfam:DUF4203
|
101 |
142 |
6.9e-10 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1l2 |
A |
T |
6: 48,909,452 (GRCm39) |
T566S |
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,585,003 (GRCm39) |
T405A |
probably benign |
Het |
Bicd2 |
G |
T |
13: 49,533,396 (GRCm39) |
V587L |
probably benign |
Het |
Bsn |
A |
T |
9: 107,993,192 (GRCm39) |
D853E |
probably damaging |
Het |
Cacna1i |
C |
A |
15: 80,246,440 (GRCm39) |
N611K |
probably damaging |
Het |
Capn11 |
A |
G |
17: 45,953,473 (GRCm39) |
L227P |
probably damaging |
Het |
Copb2 |
A |
G |
9: 98,452,426 (GRCm39) |
N70S |
probably benign |
Het |
Ddb1 |
T |
C |
19: 10,603,290 (GRCm39) |
V866A |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,208,826 (GRCm39) |
|
probably benign |
Het |
Ero1b |
A |
G |
13: 12,596,551 (GRCm39) |
Y117C |
probably damaging |
Het |
Esyt1 |
T |
G |
10: 128,352,252 (GRCm39) |
R758S |
probably benign |
Het |
Gm20441 |
A |
G |
10: 75,607,326 (GRCm39) |
F55S |
probably damaging |
Het |
Gm20547 |
A |
T |
17: 35,078,492 (GRCm39) |
M362K |
probably damaging |
Het |
Gucy1b2 |
A |
G |
14: 62,653,393 (GRCm39) |
V334A |
probably benign |
Het |
Hnrnph3 |
A |
T |
10: 62,853,958 (GRCm39) |
F53L |
probably benign |
Het |
Kcnk18 |
C |
T |
19: 59,223,616 (GRCm39) |
P254S |
probably benign |
Het |
Lrfn5 |
T |
A |
12: 61,886,833 (GRCm39) |
L207Q |
probably damaging |
Het |
Lrp3 |
T |
C |
7: 34,902,052 (GRCm39) |
M589V |
possibly damaging |
Het |
Nlrp1b |
A |
G |
11: 71,052,665 (GRCm39) |
V918A |
probably benign |
Het |
Nsg2 |
A |
G |
11: 31,951,836 (GRCm39) |
T29A |
probably damaging |
Het |
Or51b4 |
T |
A |
7: 103,530,724 (GRCm39) |
H242L |
probably damaging |
Het |
Pank4 |
C |
T |
4: 155,059,172 (GRCm39) |
T435I |
probably damaging |
Het |
Prom1 |
C |
T |
5: 44,163,502 (GRCm39) |
|
probably null |
Het |
Prr14 |
G |
T |
7: 127,071,135 (GRCm39) |
L3F |
probably damaging |
Het |
Rfx7 |
A |
T |
9: 72,440,271 (GRCm39) |
|
probably benign |
Het |
Rhbdl3 |
A |
G |
11: 80,237,653 (GRCm39) |
N295S |
probably damaging |
Het |
Ripk3 |
A |
G |
14: 56,024,622 (GRCm39) |
|
probably benign |
Het |
Ror1 |
A |
T |
4: 100,269,092 (GRCm39) |
N310I |
possibly damaging |
Het |
Rpl23a |
T |
C |
11: 78,072,408 (GRCm39) |
Y74C |
possibly damaging |
Het |
Rtp3 |
A |
T |
9: 110,815,162 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
T |
5: 124,514,213 (GRCm39) |
N1326K |
probably damaging |
Het |
Sepsecs |
T |
C |
5: 52,818,018 (GRCm39) |
N253S |
probably damaging |
Het |
Setd2 |
A |
C |
9: 110,380,343 (GRCm39) |
E1386A |
possibly damaging |
Het |
Sf3b3 |
T |
C |
8: 111,537,596 (GRCm39) |
I1211V |
possibly damaging |
Het |
Sh3tc2 |
G |
A |
18: 62,107,549 (GRCm39) |
V187M |
possibly damaging |
Het |
Slc30a6 |
G |
T |
17: 74,716,373 (GRCm39) |
E136* |
probably null |
Het |
Sptan1 |
T |
A |
2: 29,881,045 (GRCm39) |
V438E |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,832,667 (GRCm39) |
|
probably null |
Het |
Sult2a1 |
T |
A |
7: 13,566,635 (GRCm39) |
|
probably benign |
Het |
Tnfrsf8 |
C |
A |
4: 145,019,219 (GRCm39) |
L205F |
possibly damaging |
Het |
Vmn1r68 |
T |
A |
7: 10,262,074 (GRCm39) |
E8V |
probably damaging |
Het |
Wnk3 |
G |
A |
X: 150,059,924 (GRCm39) |
D742N |
probably damaging |
Het |
Xpc |
A |
T |
6: 91,468,297 (GRCm39) |
|
probably null |
Het |
Zfp113 |
A |
T |
5: 138,149,458 (GRCm39) |
|
probably benign |
Het |
Zfp120 |
A |
T |
2: 149,961,794 (GRCm39) |
D51E |
probably benign |
Het |
Zfp473 |
C |
T |
7: 44,382,522 (GRCm39) |
V603M |
probably benign |
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 |
|
R1165:Tmem198
|
UTSW |
1 |
75,456,576 (GRCm39) |
intron |
probably benign |
|
R1876:Tmem198
|
UTSW |
1 |
75,461,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R4638:Tmem198
|
UTSW |
1 |
75,456,351 (GRCm39) |
nonsense |
probably null |
|
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 |
|
Posted On |
2016-08-02 |