Incidental Mutation 'R4460:Tmem143'
| ID |
330105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem143
|
| Ensembl Gene |
ENSMUSG00000002781 |
| Gene Name |
transmembrane protein 143 |
| Synonyms |
2310076O21Rik |
| MMRRC Submission |
041719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4460 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45546403-45566837 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45556376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 97
(T97I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069772]
[ENSMUST00000209350]
[ENSMUST00000210503]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069772
AA Change: T132I
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070405
Gene: ENSMUSG00000002781
AA Change: T132I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3754
|
182 |
349 |
3.6e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107716
AA Change: T127I
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103344
Gene: ENSMUSG00000002781
AA Change: T127I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3754
|
221 |
344 |
3.8e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125809
AA Change: P119S
|
| Predicted Effect |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153045
AA Change: T154I
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000209292
AA Change: T131I
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209350
AA Change: T127I
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210503
AA Change: T97I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210044
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btbd8 |
A |
G |
5: 107,651,631 (GRCm39) |
T687A |
possibly damaging |
Het |
| C030048H21Rik |
A |
G |
2: 26,145,875 (GRCm39) |
|
probably null |
Het |
| Cav1 |
A |
G |
6: 17,306,471 (GRCm39) |
D8G |
probably damaging |
Het |
| Celf6 |
G |
A |
9: 59,510,327 (GRCm39) |
R103H |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,646,101 (GRCm39) |
I698V |
probably benign |
Het |
| Cts6 |
G |
C |
13: 61,343,272 (GRCm39) |
I316M |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,058,262 (GRCm39) |
R1496L |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,411,519 (GRCm39) |
Y1786H |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,852,281 (GRCm39) |
T1268I |
probably benign |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Ltk |
A |
G |
2: 119,586,094 (GRCm39) |
|
probably null |
Het |
| Med20 |
T |
C |
17: 47,929,842 (GRCm39) |
V93A |
probably benign |
Het |
| Mmp9 |
G |
T |
2: 164,790,958 (GRCm39) |
K115N |
probably damaging |
Het |
| Mroh5 |
A |
T |
15: 73,663,645 (GRCm39) |
D339E |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,138,870 (GRCm39) |
D493V |
probably damaging |
Het |
| Mx1 |
G |
T |
16: 97,255,281 (GRCm39) |
S113R |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,077,523 (GRCm39) |
H698L |
probably damaging |
Het |
| Nol9 |
T |
G |
4: 152,142,293 (GRCm39) |
L641R |
probably damaging |
Het |
| Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Prkn |
A |
T |
17: 12,280,533 (GRCm39) |
D463V |
probably damaging |
Het |
| Ptcd1 |
G |
T |
5: 145,096,316 (GRCm39) |
A259E |
probably benign |
Het |
| Ptov1 |
T |
C |
7: 44,515,000 (GRCm39) |
M204V |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,922,764 (GRCm39) |
S210P |
probably benign |
Het |
| Rgmb |
C |
A |
17: 16,027,888 (GRCm39) |
R277L |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,309,516 (GRCm39) |
E22G |
probably benign |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Ttn |
A |
C |
2: 76,644,991 (GRCm39) |
F12955V |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,255,971 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,852 (GRCm39) |
M211K |
probably damaging |
Het |
| Vmn2r121 |
G |
A |
X: 123,038,281 (GRCm39) |
P580S |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
probably damaging |
Het |
|
| Other mutations in Tmem143 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01341:Tmem143
|
APN |
7 |
45,565,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGTGGCAAGCGTAAC -3'
(R):5'- GATAGCCCTTGCCTGACAGG -3'
Sequencing Primer
(F):5'- GCGTAACACAGGGTAGCTTG -3'
(R):5'- TTCCTCTAGGCTAGCAAACATGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation