Incidental Mutation 'IGL01894:Tmem184c'
| ID |
179340 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem184c
|
| Ensembl Gene |
ENSMUSG00000031617 |
| Gene Name |
transmembrane protein 184C |
| Synonyms |
Tmem34, 8430433H16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
IGL01894
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
78322611-78337327 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 78323775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 362
(C362*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034030]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034030
AA Change: C362*
|
| SMART Domains |
Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: C362*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Solute_trans_a
|
48 |
317 |
1.9e-101 |
PFAM |
|
low complexity region
|
373 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
415 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
422 |
485 |
1.18e-11 |
PROSPERO |
|
low complexity region
|
500 |
512 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
519 |
599 |
1.18e-11 |
PROSPERO |
|
low complexity region
|
600 |
621 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,324,865 (GRCm39) |
I530L |
probably benign |
Het |
| Adam3 |
T |
C |
8: 25,177,954 (GRCm39) |
D653G |
probably benign |
Het |
| Car13 |
T |
C |
3: 14,726,525 (GRCm39) |
F227S |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,417,747 (GRCm39) |
N300S |
probably benign |
Het |
| Fat3 |
C |
T |
9: 16,287,145 (GRCm39) |
V793I |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpa33 |
T |
A |
1: 165,992,785 (GRCm39) |
D299E |
probably benign |
Het |
| Kif5a |
C |
T |
10: 127,098,648 (GRCm39) |
V40I |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,705,121 (GRCm39) |
H1455R |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,122,828 (GRCm39) |
K751E |
possibly damaging |
Het |
| Nek5 |
T |
A |
8: 22,603,835 (GRCm39) |
H114L |
probably damaging |
Het |
| Nipal1 |
G |
A |
5: 72,820,882 (GRCm39) |
A37T |
probably benign |
Het |
| Or13a24 |
T |
C |
7: 140,154,683 (GRCm39) |
Y206H |
possibly damaging |
Het |
| Or5b101 |
G |
T |
19: 13,005,649 (GRCm39) |
L15I |
probably damaging |
Het |
| Or5b96 |
T |
C |
19: 12,867,007 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,504,175 (GRCm39) |
Y622H |
possibly damaging |
Het |
| Pknox2 |
G |
T |
9: 36,835,038 (GRCm39) |
H144N |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,559,397 (GRCm39) |
Y526C |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,227,557 (GRCm39) |
D54G |
probably damaging |
Het |
| Rpn2 |
C |
T |
2: 157,136,093 (GRCm39) |
T167I |
probably benign |
Het |
| Slc22a30 |
G |
T |
19: 8,364,021 (GRCm39) |
H218Q |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,113,664 (GRCm39) |
S878P |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wscd2 |
C |
T |
5: 113,710,357 (GRCm39) |
R294W |
probably damaging |
Het |
|
| Other mutations in Tmem184c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02024:Tmem184c
|
APN |
8 |
78,331,443 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02231:Tmem184c
|
APN |
8 |
78,331,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02736:Tmem184c
|
APN |
8 |
78,324,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02934:Tmem184c
|
APN |
8 |
78,324,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03046:Tmem184c
|
UTSW |
8 |
78,326,286 (GRCm39) |
nonsense |
probably null |
|
|
R0107:Tmem184c
|
UTSW |
8 |
78,323,702 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0107:Tmem184c
|
UTSW |
8 |
78,323,702 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0189:Tmem184c
|
UTSW |
8 |
78,324,441 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0564:Tmem184c
|
UTSW |
8 |
78,332,789 (GRCm39) |
splice site |
probably null |
|
|
R0946:Tmem184c
|
UTSW |
8 |
78,331,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1629:Tmem184c
|
UTSW |
8 |
78,332,791 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1629:Tmem184c
|
UTSW |
8 |
78,329,551 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2261:Tmem184c
|
UTSW |
8 |
78,323,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2261:Tmem184c
|
UTSW |
8 |
78,323,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Tmem184c
|
UTSW |
8 |
78,331,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3805:Tmem184c
|
UTSW |
8 |
78,323,504 (GRCm39) |
missense |
unknown |
|
|
R5418:Tmem184c
|
UTSW |
8 |
78,324,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5716:Tmem184c
|
UTSW |
8 |
78,333,036 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5934:Tmem184c
|
UTSW |
8 |
78,331,352 (GRCm39) |
nonsense |
probably null |
|
|
R5951:Tmem184c
|
UTSW |
8 |
78,325,291 (GRCm39) |
splice site |
probably null |
|
|
R6150:Tmem184c
|
UTSW |
8 |
78,323,069 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7206:Tmem184c
|
UTSW |
8 |
78,323,206 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7387:Tmem184c
|
UTSW |
8 |
78,324,559 (GRCm39) |
nonsense |
probably null |
|
|
R7899:Tmem184c
|
UTSW |
8 |
78,324,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7959:Tmem184c
|
UTSW |
8 |
78,329,532 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8100:Tmem184c
|
UTSW |
8 |
78,331,411 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8246:Tmem184c
|
UTSW |
8 |
78,336,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9800:Tmem184c
|
UTSW |
8 |
78,323,087 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2014-05-07 |
Incidental Mutation