Incidental Mutation 'R7959:Tmem184c'
| ID |
650006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem184c
|
| Ensembl Gene |
ENSMUSG00000031617 |
| Gene Name |
transmembrane protein 184C |
| Synonyms |
Tmem34, 8430433H16Rik |
| MMRRC Submission |
046003-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.264)
|
| Stock # |
R7959 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
78322611-78337327 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78329532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 176
(V176A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034030]
[ENSMUST00000141202]
[ENSMUST00000152168]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034030
AA Change: V176A
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: V176A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141202
|
| SMART Domains |
Protein: ENSMUSP00000120041
Gene: ENSMUSG00000031617
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152168
AA Change: V216A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114463
Gene: ENSMUSG00000031617
AA Change: V216A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
Pfam:Solute_trans_a
|
85 |
228 |
1.4e-49 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,988,013 (GRCm39) |
V3099A |
possibly damaging |
Het |
| Apba2 |
A |
G |
7: 64,345,571 (GRCm39) |
M254V |
probably benign |
Het |
| Bbs7 |
C |
T |
3: 36,657,085 (GRCm39) |
D248N |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,096,728 (GRCm39) |
I1457V |
probably benign |
Het |
| Cldn8 |
A |
G |
16: 88,359,829 (GRCm39) |
V32A |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,484,780 (GRCm39) |
P496T |
unknown |
Het |
| Cyp27a1 |
T |
A |
1: 74,776,236 (GRCm39) |
N417K |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,682,621 (GRCm39) |
D283G |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,933,627 (GRCm39) |
K4878E |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,774,737 (GRCm39) |
M746K |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,195,967 (GRCm39) |
Y556N |
unknown |
Het |
| Fsip2 |
T |
C |
2: 82,816,120 (GRCm39) |
I3951T |
possibly damaging |
Het |
| Gigyf1 |
C |
T |
5: 137,522,581 (GRCm39) |
T773I |
probably damaging |
Het |
| Heatr6 |
A |
T |
11: 83,672,189 (GRCm39) |
K1066* |
probably null |
Het |
| Mdfic |
T |
C |
6: 15,741,070 (GRCm39) |
S142P |
possibly damaging |
Het |
| Mettl16 |
A |
G |
11: 74,707,852 (GRCm39) |
I389V |
probably benign |
Het |
| Mia3 |
T |
C |
1: 183,125,760 (GRCm39) |
Y57C |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,544,239 (GRCm39) |
|
probably null |
Het |
| Or1e1 |
T |
C |
11: 73,244,744 (GRCm39) |
L55P |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,586,602 (GRCm39) |
*313W |
probably null |
Het |
| Or52a24 |
T |
A |
7: 103,382,015 (GRCm39) |
V294D |
probably damaging |
Het |
| Or8b1b |
T |
A |
9: 38,376,211 (GRCm39) |
S291R |
probably damaging |
Het |
| Or9s13 |
T |
A |
1: 92,548,029 (GRCm39) |
C134S |
probably damaging |
Het |
| Pierce1 |
A |
T |
2: 28,352,369 (GRCm39) |
N131K |
probably damaging |
Het |
| Plcxd1 |
A |
T |
5: 110,251,422 (GRCm39) |
I333F |
probably damaging |
Het |
| Plxna2 |
C |
A |
1: 194,493,270 (GRCm39) |
S1848R |
probably damaging |
Het |
| Plxna2 |
AT |
A |
1: 194,476,172 (GRCm39) |
|
probably null |
Het |
| Pnpla2 |
T |
A |
7: 141,037,406 (GRCm39) |
D136E |
probably benign |
Het |
| Polr1b |
T |
A |
2: 128,950,014 (GRCm39) |
F245I |
probably damaging |
Het |
| Prmt9 |
T |
A |
8: 78,287,594 (GRCm39) |
I245N |
probably damaging |
Het |
| Serhl |
A |
T |
15: 82,986,073 (GRCm39) |
D62V |
probably damaging |
Het |
| Sh3rf3 |
A |
T |
10: 58,842,925 (GRCm39) |
D297V |
probably damaging |
Het |
| Spata13 |
C |
T |
14: 60,993,679 (GRCm39) |
R1044* |
probably null |
Het |
| Strbp |
G |
A |
2: 37,530,906 (GRCm39) |
T116I |
probably benign |
Het |
| Supt5 |
T |
C |
7: 28,015,224 (GRCm39) |
D977G |
probably benign |
Het |
| Uhrf2 |
A |
G |
19: 30,063,660 (GRCm39) |
N541S |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,755,949 (GRCm39) |
F7Y |
possibly damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,169,040 (GRCm39) |
R697G |
probably benign |
Het |
| Zfp994 |
A |
G |
17: 22,421,761 (GRCm39) |
V18A |
probably damaging |
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 |
|
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 |
|
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'- GACCAGCCTTTCACTGTTAATC -3'
(R):5'- TTTCAAAATGGGCTTCAGGC -3'
Sequencing Primer
(F):5'- CTACCATTAGTTGCCATGAACGTGG -3'
(R):5'- GGCTTCAGGCTCCCTTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation