Incidental Mutation 'IGL01814:Tmem101'
ID |
154357 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem101
|
Ensembl Gene |
ENSMUSG00000020921 |
Gene Name |
transmembrane protein 101 |
Synonyms |
2610511E22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
IGL01814
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
102043372-102047230 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 102044284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 201
(T201M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021296]
[ENSMUST00000055409]
|
AlphaFold |
Q91VP7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021296
AA Change: T201M
PolyPhen 2
Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000021296 Gene: ENSMUSG00000020921 AA Change: T201M
Domain | Start | End | E-Value | Type |
Pfam:TMEM101
|
8 |
256 |
9.9e-122 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000055409
|
SMART Domains |
Protein: ENSMUSP00000050258 Gene: ENSMUSG00000048217
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
48 |
N/A |
INTRINSIC |
low complexity region
|
77 |
90 |
N/A |
INTRINSIC |
Pfam:NAT
|
349 |
514 |
3.5e-50 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129799
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136434
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143986
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147252
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
T |
A |
18: 67,538,544 (GRCm39) |
N738I |
probably benign |
Het |
B3galnt2 |
A |
G |
13: 14,161,938 (GRCm39) |
S1G |
probably damaging |
Het |
Btbd9 |
T |
C |
17: 30,518,509 (GRCm39) |
I484V |
probably benign |
Het |
Chd6 |
T |
C |
2: 160,901,849 (GRCm39) |
K8R |
probably benign |
Het |
Csmd1 |
A |
C |
8: 16,551,389 (GRCm39) |
L279R |
probably damaging |
Het |
Dmxl1 |
G |
T |
18: 49,997,935 (GRCm39) |
V708F |
probably damaging |
Het |
Dnajc24 |
C |
T |
2: 105,811,429 (GRCm39) |
G49R |
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,301,237 (GRCm39) |
M198T |
probably benign |
Het |
Dtx3l |
T |
A |
16: 35,751,872 (GRCm39) |
D683V |
probably benign |
Het |
Duox1 |
A |
G |
2: 122,176,753 (GRCm39) |
T1425A |
probably damaging |
Het |
Enpp3 |
G |
A |
10: 24,667,923 (GRCm39) |
P510S |
possibly damaging |
Het |
Iars2 |
G |
T |
1: 185,034,972 (GRCm39) |
Y590* |
probably null |
Het |
Itgb7 |
T |
C |
15: 102,131,852 (GRCm39) |
R244G |
possibly damaging |
Het |
Itpr2 |
T |
A |
6: 146,134,044 (GRCm39) |
R1820S |
probably benign |
Het |
Matn3 |
T |
C |
12: 9,002,091 (GRCm39) |
V101A |
probably damaging |
Het |
Neurod1 |
C |
T |
2: 79,285,003 (GRCm39) |
V127M |
probably damaging |
Het |
Or56a5 |
T |
C |
7: 104,792,811 (GRCm39) |
I236V |
possibly damaging |
Het |
Or9i1b |
T |
A |
19: 13,896,892 (GRCm39) |
C169* |
probably null |
Het |
Pde10a |
A |
G |
17: 9,147,939 (GRCm39) |
M1V |
probably null |
Het |
Pdk4 |
A |
G |
6: 5,491,828 (GRCm39) |
|
probably null |
Het |
Ptchd4 |
A |
T |
17: 42,814,177 (GRCm39) |
I693F |
possibly damaging |
Het |
Scml4 |
C |
T |
10: 42,811,041 (GRCm39) |
R194C |
probably damaging |
Het |
Slc24a4 |
T |
C |
12: 102,220,877 (GRCm39) |
V436A |
probably benign |
Het |
Slc9a3 |
C |
A |
13: 74,314,091 (GRCm39) |
R800S |
probably damaging |
Het |
Smchd1 |
C |
A |
17: 71,685,182 (GRCm39) |
M1415I |
probably benign |
Het |
Syndig1 |
T |
A |
2: 149,741,690 (GRCm39) |
I92N |
probably damaging |
Het |
Tchhl1 |
T |
C |
3: 93,377,656 (GRCm39) |
V120A |
possibly damaging |
Het |
Thumpd3 |
C |
T |
6: 113,040,112 (GRCm39) |
T332I |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,850,747 (GRCm39) |
T1106A |
probably damaging |
Het |
Ttc41 |
C |
T |
10: 86,566,890 (GRCm39) |
R519C |
probably damaging |
Het |
Xirp1 |
T |
A |
9: 119,846,985 (GRCm39) |
M633L |
probably damaging |
Het |
Zfp938 |
A |
T |
10: 82,062,052 (GRCm39) |
D189E |
probably benign |
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 |
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 |
R5146:Tmem101
|
UTSW |
11 |
102,045,450 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2014-02-04 |