Incidental Mutation 'IGL01341:Tmem143'
| ID |
74862 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem143
|
| Ensembl Gene |
ENSMUSG00000002781 |
| Gene Name |
transmembrane protein 143 |
| Synonyms |
2310076O21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45546403-45566837 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45565558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 340
(Y340H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038876]
[ENSMUST00000069772]
[ENSMUST00000164119]
[ENSMUST00000209350]
[ENSMUST00000210297]
[ENSMUST00000210939]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038876
|
| SMART Domains |
Protein: ENSMUSP00000037289
Gene: ENSMUSG00000040212
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
1 |
156 |
7.2e-47 |
PFAM |
|
Pfam:Claudin_2
|
13 |
158 |
8.8e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069772
AA Change: Y340H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070405
Gene: ENSMUSG00000002781
AA Change: Y340H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3754
|
182 |
349 |
3.6e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107716
AA Change: Y335H
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103344
Gene: ENSMUSG00000002781
AA Change: Y335H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3754
|
221 |
344 |
3.8e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129600
AA Change: V46A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164119
|
| SMART Domains |
Protein: ENSMUSP00000132519
Gene: ENSMUSG00000040212
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
1 |
156 |
7.2e-47 |
PFAM |
|
Pfam:Claudin_2
|
13 |
158 |
8.8e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209292
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209350
AA Change: Y335H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211280
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210939
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,989,067 (GRCm39) |
H3450Q |
probably benign |
Het |
| Arcn1 |
A |
G |
9: 44,668,489 (GRCm39) |
I249T |
possibly damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,260,925 (GRCm39) |
R1450H |
probably damaging |
Het |
| Cdh26 |
A |
T |
2: 178,099,240 (GRCm39) |
D113V |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,047,189 (GRCm39) |
V141A |
probably damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Ctsll3 |
C |
T |
13: 60,946,813 (GRCm39) |
D269N |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,261 (GRCm39) |
I492T |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,635,701 (GRCm39) |
S489G |
probably damaging |
Het |
| Glra2 |
T |
C |
X: 164,107,562 (GRCm39) |
D46G |
probably damaging |
Het |
| Gm7094 |
A |
G |
1: 21,343,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
T |
C |
3: 63,922,861 (GRCm39) |
I608T |
probably damaging |
Het |
| Gzma |
A |
G |
13: 113,230,418 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
T |
A |
17: 35,601,978 (GRCm39) |
V280E |
probably damaging |
Het |
| Jak1 |
C |
T |
4: 101,032,290 (GRCm39) |
G439S |
probably damaging |
Het |
| Kars1 |
T |
C |
8: 112,721,606 (GRCm39) |
I556V |
probably benign |
Het |
| Kifc2 |
T |
C |
15: 76,547,098 (GRCm39) |
|
probably null |
Het |
| Kit |
T |
C |
5: 75,767,734 (GRCm39) |
I39T |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,975,371 (GRCm39) |
R702L |
possibly damaging |
Het |
| Marveld3 |
T |
A |
8: 110,675,049 (GRCm39) |
T256S |
possibly damaging |
Het |
| Nkd1 |
G |
A |
8: 89,318,180 (GRCm39) |
|
probably benign |
Het |
| Or5aq6 |
T |
A |
2: 86,923,643 (GRCm39) |
I33L |
probably benign |
Het |
| Or6c212 |
G |
A |
10: 129,558,747 (GRCm39) |
T222I |
possibly damaging |
Het |
| Pax2 |
A |
G |
19: 44,779,127 (GRCm39) |
S167G |
probably damaging |
Het |
| Pdlim3 |
T |
A |
8: 46,368,277 (GRCm39) |
D258E |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,173,691 (GRCm39) |
C393* |
probably null |
Het |
| Pxdn |
T |
C |
12: 30,052,486 (GRCm39) |
S888P |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
| Reln |
T |
A |
5: 22,174,077 (GRCm39) |
I2009F |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,427,653 (GRCm39) |
S627P |
probably benign |
Het |
| Slc2a8 |
T |
A |
2: 32,866,003 (GRCm39) |
Q39L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,560,663 (GRCm39) |
V29246A |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,336,427 (GRCm39) |
D1654G |
probably damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,811,294 (GRCm39) |
L484R |
possibly damaging |
Het |
| Zcchc8 |
A |
G |
5: 123,842,632 (GRCm39) |
V367A |
probably benign |
Het |
|
| Other mutations in Tmem143 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0137:Tmem143
|
UTSW |
7 |
45,547,086 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0587:Tmem143
|
UTSW |
7 |
45,556,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1450:Tmem143
|
UTSW |
7 |
45,556,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Tmem143
|
UTSW |
7 |
45,556,426 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1783:Tmem143
|
UTSW |
7 |
45,556,426 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1807:Tmem143
|
UTSW |
7 |
45,547,037 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1874:Tmem143
|
UTSW |
7 |
45,565,988 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4460:Tmem143
|
UTSW |
7 |
45,556,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6090:Tmem143
|
UTSW |
7 |
45,558,950 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7130:Tmem143
|
UTSW |
7 |
45,558,901 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7267:Tmem143
|
UTSW |
7 |
45,557,598 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8292:Tmem143
|
UTSW |
7 |
45,558,964 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8303:Tmem143
|
UTSW |
7 |
45,565,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9135:Tmem143
|
UTSW |
7 |
45,546,802 (GRCm39) |
intron |
probably benign |
|
|
R9508:Tmem143
|
UTSW |
7 |
45,565,630 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation