Incidental Mutation 'IGL00801:Tmem198b'
| ID |
14495 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem198b
|
| Ensembl Gene |
ENSMUSG00000047090 |
| Gene Name |
transmembrane protein 198b |
| Synonyms |
1110012D08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL00801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128635905-128640239 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 128639014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 43
(L43R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026410]
[ENSMUST00000026411]
[ENSMUST00000051011]
[ENSMUST00000139227]
[ENSMUST00000217745]
[ENSMUST00000218001]
[ENSMUST00000219404]
[ENSMUST00000218511]
[ENSMUST00000219508]
|
| AlphaFold |
Q8CFU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026410
|
| SMART Domains |
Protein: ENSMUSP00000026410
Gene: ENSMUSG00000025354
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
176 |
N/A |
INTRINSIC |
|
transmembrane domain
|
300 |
322 |
N/A |
INTRINSIC |
|
transmembrane domain
|
327 |
349 |
N/A |
INTRINSIC |
|
DnaJ
|
443 |
500 |
1.3e-21 |
SMART |
|
Pfam:Jiv90
|
532 |
621 |
5.9e-40 |
PFAM |
|
low complexity region
|
690 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026411
|
| SMART Domains |
Protein: ENSMUSP00000026411
Gene: ENSMUSG00000025355
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
26 |
81 |
6.7e-10 |
PFAM |
|
ZnMc
|
101 |
258 |
5.13e-43 |
SMART |
|
low complexity region
|
262 |
271 |
N/A |
INTRINSIC |
|
HX
|
293 |
335 |
8.97e-8 |
SMART |
|
HX
|
337 |
378 |
1e-5 |
SMART |
|
HX
|
380 |
427 |
1.87e-5 |
SMART |
|
HX
|
429 |
471 |
3.7e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051011
AA Change: L43R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050451
Gene: ENSMUSG00000047090
AA Change: L43R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4203
|
43 |
240 |
2.4e-47 |
PFAM |
|
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139227
AA Change: L43R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118082
Gene: ENSMUSG00000047090
AA Change: L43R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4203
|
42 |
96 |
4.5e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152966
|
| SMART Domains |
Protein: ENSMUSP00000117574
Gene: ENSMUSG00000047090
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4203
|
42 |
241 |
1.9e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219473
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218511
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219508
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218765
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing compared with wild-type littermates. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
C |
12: 72,928,160 (GRCm39) |
T524A |
possibly damaging |
Het |
| Abcb7 |
T |
C |
X: 103,339,584 (GRCm39) |
I562V |
possibly damaging |
Het |
| Anapc4 |
T |
A |
5: 53,014,553 (GRCm39) |
V472D |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,632,905 (GRCm39) |
Y511H |
probably damaging |
Het |
| Atxn3 |
A |
G |
12: 101,892,767 (GRCm39) |
S316P |
possibly damaging |
Het |
| B3galt1 |
A |
T |
2: 67,948,320 (GRCm39) |
T12S |
possibly damaging |
Het |
| Ccn1 |
T |
A |
3: 145,354,365 (GRCm39) |
D182V |
probably damaging |
Het |
| Cdc14a |
G |
T |
3: 116,088,493 (GRCm39) |
S394* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,719,775 (GRCm39) |
V2458A |
probably benign |
Het |
| Dapk1 |
C |
T |
13: 60,909,062 (GRCm39) |
T1225I |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,674,305 (GRCm39) |
K647R |
possibly damaging |
Het |
| Gabra5 |
C |
A |
7: 57,138,736 (GRCm39) |
W104L |
probably damaging |
Het |
| Gjb6 |
A |
T |
14: 57,361,498 (GRCm39) |
N254K |
possibly damaging |
Het |
| Golga4 |
T |
A |
9: 118,367,994 (GRCm39) |
L371Q |
probably damaging |
Het |
| Gucy2g |
C |
T |
19: 55,221,535 (GRCm39) |
R322Q |
probably benign |
Het |
| Hnf1b |
C |
T |
11: 83,746,750 (GRCm39) |
A122V |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,721,115 (GRCm39) |
L1089F |
probably damaging |
Het |
| Knop1 |
A |
G |
7: 118,451,867 (GRCm39) |
V284A |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,566,605 (GRCm39) |
E2039K |
unknown |
Het |
| Myof |
A |
G |
19: 37,974,521 (GRCm39) |
I206T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,319,526 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
G |
13: 49,815,704 (GRCm39) |
D586G |
probably benign |
Het |
| Nudt5 |
T |
C |
2: 5,871,168 (GRCm39) |
F166S |
probably damaging |
Het |
| Ociad1 |
T |
A |
5: 73,461,909 (GRCm39) |
Y87N |
probably damaging |
Het |
| Qtrt2 |
T |
C |
16: 43,701,552 (GRCm39) |
K3E |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,824,015 (GRCm39) |
V1627I |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,483,188 (GRCm39) |
M198L |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,918,097 (GRCm39) |
M574V |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,454 (GRCm39) |
D957G |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,961,557 (GRCm39) |
M627T |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,197 (GRCm39) |
F192S |
possibly damaging |
Het |
| Zfp961 |
T |
G |
8: 72,719,732 (GRCm39) |
M54R |
probably damaging |
Het |
|
| Other mutations in Tmem198b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02623:Tmem198b
|
APN |
10 |
128,638,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1636:Tmem198b
|
UTSW |
10 |
128,638,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2922:Tmem198b
|
UTSW |
10 |
128,638,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Tmem198b
|
UTSW |
10 |
128,637,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5013:Tmem198b
|
UTSW |
10 |
128,637,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Tmem198b
|
UTSW |
10 |
128,637,305 (GRCm39) |
missense |
probably benign |
|
|
R5107:Tmem198b
|
UTSW |
10 |
128,638,156 (GRCm39) |
missense |
probably benign |
|
|
R5818:Tmem198b
|
UTSW |
10 |
128,638,057 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5930:Tmem198b
|
UTSW |
10 |
128,637,323 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9205:Tmem198b
|
UTSW |
10 |
128,639,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Tmem198b
|
UTSW |
10 |
128,638,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9777:Tmem198b
|
UTSW |
10 |
128,638,273 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1176:Tmem198b
|
UTSW |
10 |
128,638,105 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2012-12-06 |
Incidental Mutation