Incidental Mutation 'R3805:Tmem184c'
ID |
274559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem184c
|
Ensembl Gene |
ENSMUSG00000031617 |
Gene Name |
transmembrane protein 184C |
Synonyms |
Tmem34, 8430433H16Rik |
MMRRC Submission |
040762-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.264)
|
Stock # |
R3805 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
78322611-78337327 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 78323504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 453
(D453Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034030
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034030]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000034030
AA Change: D453Y
|
SMART Domains |
Protein: ENSMUSP00000034030 Gene: ENSMUSG00000031617 AA Change: D453Y
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 |
|
Meta Mutation Damage Score |
0.0869 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Aebp2 |
GCGGCC |
GCGGCCGGCC |
6: 140,589,675 (GRCm39) |
|
probably null |
Het |
Ano5 |
T |
C |
7: 51,226,398 (GRCm39) |
F584L |
probably benign |
Het |
Ap1b1 |
T |
A |
11: 4,983,225 (GRCm39) |
|
probably null |
Het |
Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,397,819 (GRCm39) |
I553T |
possibly damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
Dhrs2 |
A |
T |
14: 55,472,205 (GRCm39) |
N32I |
probably benign |
Het |
Dnah1 |
A |
T |
14: 31,016,720 (GRCm39) |
M1599K |
possibly damaging |
Het |
Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
Fam169a |
G |
A |
13: 97,234,192 (GRCm39) |
V155I |
probably benign |
Het |
Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
Hdac3 |
A |
G |
18: 38,078,745 (GRCm39) |
|
probably null |
Het |
Herc3 |
C |
A |
6: 58,893,835 (GRCm39) |
H970Q |
probably damaging |
Het |
Htt |
A |
G |
5: 35,034,548 (GRCm39) |
|
probably null |
Het |
Ifit1 |
A |
G |
19: 34,625,556 (GRCm39) |
I231V |
probably damaging |
Het |
Lingo4 |
A |
G |
3: 94,309,407 (GRCm39) |
D115G |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
Map7d1 |
A |
T |
4: 126,131,084 (GRCm39) |
|
probably null |
Het |
Morf4l1 |
A |
G |
9: 89,977,196 (GRCm39) |
S203P |
probably benign |
Het |
Naaladl1 |
A |
G |
19: 6,164,895 (GRCm39) |
T628A |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,264,277 (GRCm39) |
C643* |
probably null |
Het |
Or4ac1-ps1 |
A |
T |
2: 88,370,700 (GRCm39) |
|
noncoding transcript |
Het |
Or4b1 |
T |
G |
2: 89,978,805 (GRCm39) |
|
probably benign |
Het |
Oxtr |
T |
C |
6: 112,454,147 (GRCm39) |
K39R |
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,566,625 (GRCm39) |
M24K |
probably damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,149,842 (GRCm39) |
F256L |
probably benign |
Het |
Robo4 |
A |
T |
9: 37,315,734 (GRCm39) |
D329V |
possibly damaging |
Het |
Rsph10b |
G |
A |
5: 143,895,206 (GRCm39) |
|
probably null |
Het |
Slc9b2 |
T |
C |
3: 135,030,349 (GRCm39) |
L222P |
probably damaging |
Het |
Speer4a1 |
C |
T |
5: 26,240,082 (GRCm39) |
E223K |
possibly damaging |
Het |
St18 |
T |
A |
1: 6,872,577 (GRCm39) |
L104H |
probably damaging |
Het |
Trpv1 |
A |
T |
11: 73,143,879 (GRCm39) |
N237I |
probably damaging |
Het |
Vmn2r77 |
T |
A |
7: 86,444,368 (GRCm39) |
L7* |
probably null |
Het |
|
Other mutations in Tmem184c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01894:Tmem184c
|
APN |
8 |
78,323,775 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGAAATTGGTCTCGGTGGAG -3'
(R):5'- TGAGCACTCGAGCCTACTTTC -3'
Sequencing Primer
(F):5'- GTAATGGTCTGTCTGTTAATCATGAC -3'
(R):5'- AACTTCTGGTTCTTCAAAGGTACC -3'
|
Posted On |
2015-04-02 |