Incidental Mutation 'R5146:Tmem101'
| ID |
395120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem101
|
| Ensembl Gene |
ENSMUSG00000020921 |
| Gene Name |
transmembrane protein 101 |
| Synonyms |
2610511E22Rik |
| MMRRC Submission |
042730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R5146 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102043372-102047230 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102045450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 133
(R133Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021296]
|
| AlphaFold |
Q91VP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021296
AA Change: R133Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021296
Gene: ENSMUSG00000020921
AA Change: R133Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM101
|
8 |
256 |
9.9e-122 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143986
|
| Meta Mutation Damage Score |
0.0600 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,289,799 (GRCm39) |
D1498G |
possibly damaging |
Het |
| Adcyap1r1 |
A |
G |
6: 55,461,957 (GRCm39) |
I329V |
probably benign |
Het |
| Ahnak2 |
A |
C |
12: 112,742,160 (GRCm39) |
H637Q |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,734,636 (GRCm39) |
D455G |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 109,922,042 (GRCm39) |
T45A |
probably damaging |
Het |
| Chil4 |
T |
A |
3: 106,110,150 (GRCm39) |
T315S |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,320,842 (GRCm39) |
V138A |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,246,204 (GRCm39) |
D1065G |
probably damaging |
Het |
| Cspp1 |
C |
T |
1: 10,145,101 (GRCm39) |
R296* |
probably null |
Het |
| Dnah17 |
A |
G |
11: 118,005,005 (GRCm39) |
M793T |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,699,491 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
G |
T |
13: 55,313,725 (GRCm39) |
L511F |
probably damaging |
Het |
| Gm14415 |
T |
C |
2: 176,796,024 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,082,378 (GRCm39) |
V91A |
probably damaging |
Het |
| Grin2b |
T |
A |
6: 135,756,340 (GRCm39) |
I462F |
probably damaging |
Het |
| Grwd1 |
A |
T |
7: 45,477,258 (GRCm39) |
F210I |
probably damaging |
Het |
| H2-T9 |
A |
G |
17: 36,439,907 (GRCm39) |
W76R |
probably damaging |
Het |
| Itfg1 |
T |
C |
8: 86,445,497 (GRCm39) |
*611W |
probably null |
Het |
| Kcna2 |
T |
C |
3: 107,012,814 (GRCm39) |
V465A |
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,782,024 (GRCm39) |
T1444A |
probably benign |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Oas1c |
A |
G |
5: 120,940,159 (GRCm39) |
S336P |
probably benign |
Het |
| Pirb |
T |
C |
7: 3,715,620 (GRCm39) |
|
probably benign |
Het |
| Pot1b |
A |
T |
17: 55,979,865 (GRCm39) |
Y330* |
probably null |
Het |
| Rnf20 |
A |
T |
4: 49,651,456 (GRCm39) |
M641L |
probably benign |
Het |
| Sppl2b |
T |
C |
10: 80,703,474 (GRCm39) |
*579Q |
probably null |
Het |
| Sumf1 |
G |
A |
6: 108,162,271 (GRCm39) |
P83S |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,700,707 (GRCm39) |
|
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,971 (GRCm39) |
Y750H |
probably damaging |
Het |
| Zfp873 |
A |
G |
10: 81,896,058 (GRCm39) |
Y300C |
probably damaging |
Het |
|
| Other mutations in Tmem101 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Tmem101
|
APN |
11 |
102,045,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01096:Tmem101
|
APN |
11 |
102,045,378 (GRCm39) |
splice site |
probably null |
|
|
IGL01593:Tmem101
|
APN |
11 |
102,046,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01814:Tmem101
|
APN |
11 |
102,044,284 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02451:Tmem101
|
APN |
11 |
102,044,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03238:Tmem101
|
APN |
11 |
102,046,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Tmem101
|
UTSW |
11 |
102,046,693 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0848:Tmem101
|
UTSW |
11 |
102,046,692 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1465:Tmem101
|
UTSW |
11 |
102,044,155 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1465:Tmem101
|
UTSW |
11 |
102,044,155 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1722:Tmem101
|
UTSW |
11 |
102,045,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Tmem101
|
UTSW |
11 |
102,044,222 (GRCm39) |
missense |
probably benign |
|
|
R2082:Tmem101
|
UTSW |
11 |
102,044,203 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4577:Tmem101
|
UTSW |
11 |
102,046,663 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4724:Tmem101
|
UTSW |
11 |
102,044,269 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4729:Tmem101
|
UTSW |
11 |
102,047,155 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5184:Tmem101
|
UTSW |
11 |
102,047,059 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7381:Tmem101
|
UTSW |
11 |
102,044,176 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8799:Tmem101
|
UTSW |
11 |
102,044,336 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9612:Tmem101
|
UTSW |
11 |
102,044,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAATCTCTTGGAGTCACCTTG -3'
(R):5'- CTTGGAATAGGCAAGAGGGTTC -3'
Sequencing Primer
(F):5'- GTGAAATTACTCACAAGGCCTTGCTC -3'
(R):5'- TTCATCAGATAGAACAGGACGTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation