Incidental Mutation 'IGL01836:Tmem106c'
ID |
154966 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem106c
|
Ensembl Gene |
ENSMUSG00000052369 |
Gene Name |
transmembrane protein 106C |
Synonyms |
D15Ertd405e |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
IGL01836
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
97862081-97868156 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 97867567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 250
(S250R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064200]
[ENSMUST00000229428]
[ENSMUST00000229433]
[ENSMUST00000230072]
[ENSMUST00000231144]
|
AlphaFold |
Q80VP8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064200
AA Change: S250R
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000069764 Gene: ENSMUSG00000052369 AA Change: S250R
Domain | Start | End | E-Value | Type |
Pfam:DUF1356
|
15 |
246 |
2.3e-105 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229428
AA Change: S250R
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229433
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230005
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230072
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230144
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230361
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231079
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231144
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh6a |
A |
G |
3: 138,019,097 (GRCm39) |
|
probably benign |
Het |
Atp1a1 |
C |
T |
3: 101,498,730 (GRCm39) |
G188R |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,522,311 (GRCm38) |
Y618H |
probably damaging |
Het |
Dot1l |
T |
C |
10: 80,621,700 (GRCm39) |
S451P |
probably benign |
Het |
Dpysl4 |
G |
A |
7: 138,676,089 (GRCm39) |
V294I |
possibly damaging |
Het |
Ehmt1 |
T |
A |
2: 24,753,232 (GRCm39) |
|
probably null |
Het |
Eps8 |
C |
T |
6: 137,460,539 (GRCm39) |
|
probably null |
Het |
Gm7247 |
T |
A |
14: 51,602,853 (GRCm39) |
I63K |
probably damaging |
Het |
Gsdme |
T |
A |
6: 50,199,769 (GRCm39) |
D270V |
probably damaging |
Het |
Kel |
T |
A |
6: 41,674,372 (GRCm39) |
T353S |
possibly damaging |
Het |
Krt73 |
T |
C |
15: 101,704,331 (GRCm39) |
H403R |
probably benign |
Het |
Mrnip |
A |
G |
11: 50,090,675 (GRCm39) |
T280A |
probably benign |
Het |
Or1j14 |
C |
T |
2: 36,417,837 (GRCm39) |
Q138* |
probably null |
Het |
Pkdrej |
A |
G |
15: 85,705,159 (GRCm39) |
L259P |
probably damaging |
Het |
Plod2 |
T |
C |
9: 92,488,551 (GRCm39) |
|
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,593,356 (GRCm39) |
S415P |
probably benign |
Het |
Rag1 |
A |
T |
2: 101,472,239 (GRCm39) |
F968I |
probably damaging |
Het |
Rreb1 |
T |
C |
13: 38,115,433 (GRCm39) |
S931P |
probably damaging |
Het |
Sec23a |
T |
C |
12: 59,018,073 (GRCm39) |
I618V |
probably damaging |
Het |
Smtnl1 |
A |
T |
2: 84,645,714 (GRCm39) |
F386I |
probably damaging |
Het |
Sppl2b |
C |
T |
10: 80,697,220 (GRCm39) |
T30I |
probably benign |
Het |
Srf |
T |
C |
17: 46,860,108 (GRCm39) |
|
probably benign |
Het |
Tbc1d22b |
A |
G |
17: 29,818,932 (GRCm39) |
T429A |
probably damaging |
Het |
Tcf20 |
A |
T |
15: 82,739,356 (GRCm39) |
D698E |
probably damaging |
Het |
Tmprss3 |
A |
G |
17: 31,410,018 (GRCm39) |
S199P |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,492,060 (GRCm39) |
|
probably benign |
Het |
Zfp595 |
A |
G |
13: 67,480,525 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Tmem106c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01102:Tmem106c
|
APN |
15 |
97,864,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R0165:Tmem106c
|
UTSW |
15 |
97,866,020 (GRCm39) |
unclassified |
probably benign |
|
R1808:Tmem106c
|
UTSW |
15 |
97,866,548 (GRCm39) |
splice site |
probably null |
|
R4930:Tmem106c
|
UTSW |
15 |
97,862,909 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7336:Tmem106c
|
UTSW |
15 |
97,867,512 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7976:Tmem106c
|
UTSW |
15 |
97,865,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R8957:Tmem106c
|
UTSW |
15 |
97,867,481 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Tmem106c
|
UTSW |
15 |
97,865,072 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Tmem106c
|
UTSW |
15 |
97,862,818 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Posted On |
2014-02-04 |