Incidental Mutation 'R3684:Tmem127'
| ID |
269459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem127
|
| Ensembl Gene |
ENSMUSG00000034850 |
| Gene Name |
transmembrane protein 127 |
| Synonyms |
2310003P10Rik |
| MMRRC Submission |
040682-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
127089868-127103028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127090652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 56
(I56N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003759]
[ENSMUST00000035871]
[ENSMUST00000172636]
[ENSMUST00000174030]
[ENSMUST00000174288]
[ENSMUST00000174503]
[ENSMUST00000174863]
|
| AlphaFold |
Q8BGP5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003759
|
| SMART Domains |
Protein: ENSMUSP00000003759
Gene: ENSMUSG00000003662
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
44 |
6.73e-6 |
SMART |
|
WD40
|
49 |
89 |
4.27e-8 |
SMART |
|
WD40
|
94 |
133 |
5.22e-12 |
SMART |
|
WD40
|
139 |
178 |
6.04e-8 |
SMART |
|
WD40
|
183 |
222 |
9.22e-13 |
SMART |
|
WD40
|
240 |
280 |
8.04e-4 |
SMART |
|
WD40
|
291 |
332 |
5.26e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035871
AA Change: I56N
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000035434
Gene: ENSMUSG00000034850
AA Change: I56N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Blast:Sec63
|
37 |
179 |
3e-98 |
BLAST |
|
low complexity region
|
202 |
216 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143575
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172636
|
| SMART Domains |
Protein: ENSMUSP00000134199
Gene: ENSMUSG00000003662
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
44 |
6.73e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174030
|
| SMART Domains |
Protein: ENSMUSP00000134189
Gene: ENSMUSG00000003662
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
44 |
6.73e-6 |
SMART |
|
WD40
|
49 |
89 |
4.27e-8 |
SMART |
|
WD40
|
94 |
133 |
5.22e-12 |
SMART |
|
WD40
|
139 |
178 |
6.04e-8 |
SMART |
|
WD40
|
183 |
222 |
9.22e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174288
|
| SMART Domains |
Protein: ENSMUSP00000134629
Gene: ENSMUSG00000034850
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Sec63
|
1 |
95 |
1e-60 |
BLAST |
|
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174503
AA Change: I56N
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133701
Gene: ENSMUSG00000034850
AA Change: I56N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Blast:Sec63
|
37 |
124 |
8e-37 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174863
|
| SMART Domains |
Protein: ENSMUSP00000134159
Gene: ENSMUSG00000003662
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
44 |
6.73e-6 |
SMART |
|
WD40
|
49 |
89 |
4.27e-8 |
SMART |
|
WD40
|
94 |
133 |
5.22e-12 |
SMART |
|
WD40
|
139 |
176 |
1.38e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2010]
PHENOTYPE: Lysosomal activity and endosomal fusion mediated by Rab5 were affected in mouse embryonic fibroblasts of homozygous null mutants [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
C |
T |
14: 68,819,447 (GRCm39) |
V17I |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,802,453 (GRCm39) |
S1782P |
probably damaging |
Het |
| Btbd9 |
T |
A |
17: 30,553,281 (GRCm39) |
N394Y |
probably damaging |
Het |
| Calb2 |
A |
G |
8: 110,883,620 (GRCm39) |
Y35H |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,622,687 (GRCm39) |
T588A |
probably benign |
Het |
| Cfap126 |
T |
C |
1: 170,941,600 (GRCm39) |
S32P |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
| Dok3 |
A |
G |
13: 55,672,306 (GRCm39) |
S154P |
probably damaging |
Het |
| Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
| Gldn |
G |
A |
9: 54,245,624 (GRCm39) |
E392K |
possibly damaging |
Het |
| Gls |
A |
T |
1: 52,205,452 (GRCm39) |
D447E |
probably damaging |
Het |
| Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Jchain |
G |
A |
5: 88,670,398 (GRCm39) |
P74S |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,910 (GRCm39) |
V236A |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,325,260 (GRCm39) |
S954P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,021,098 (GRCm39) |
N1725S |
probably benign |
Het |
| Ppcdc |
C |
T |
9: 57,328,408 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
A |
G |
13: 76,087,600 (GRCm39) |
I129T |
probably damaging |
Het |
| Sfxn2 |
A |
G |
19: 46,579,592 (GRCm39) |
R252G |
probably benign |
Het |
| Sh2d2a |
C |
A |
3: 87,759,027 (GRCm39) |
|
probably null |
Het |
| Sh3gl1 |
T |
C |
17: 56,325,953 (GRCm39) |
K159E |
possibly damaging |
Het |
| Slc7a9 |
A |
G |
7: 35,152,926 (GRCm39) |
T115A |
probably benign |
Het |
| Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,078,718 (GRCm39) |
D1020V |
probably damaging |
Het |
| Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
| Traj7 |
A |
G |
14: 54,448,938 (GRCm39) |
|
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,184,620 (GRCm39) |
F627L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,510,937 (GRCm39) |
N514I |
possibly damaging |
Het |
| Uvrag |
A |
T |
7: 98,637,427 (GRCm39) |
C341S |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,189,531 (GRCm39) |
D459G |
probably benign |
Het |
|
| Other mutations in Tmem127 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Tmem127
|
APN |
2 |
127,099,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02108:Tmem127
|
APN |
2 |
127,099,026 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02556:Tmem127
|
APN |
2 |
127,097,922 (GRCm39) |
splice site |
probably null |
|
|
R0070:Tmem127
|
UTSW |
2 |
127,098,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0070:Tmem127
|
UTSW |
2 |
127,098,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0765:Tmem127
|
UTSW |
2 |
127,099,069 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1696:Tmem127
|
UTSW |
2 |
127,090,627 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1827:Tmem127
|
UTSW |
2 |
127,098,094 (GRCm39) |
splice site |
probably null |
|
|
R1828:Tmem127
|
UTSW |
2 |
127,098,094 (GRCm39) |
splice site |
probably null |
|
|
R3498:Tmem127
|
UTSW |
2 |
127,098,040 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3950:Tmem127
|
UTSW |
2 |
127,090,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Tmem127
|
UTSW |
2 |
127,098,065 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8831:Tmem127
|
UTSW |
2 |
127,098,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATTCCCGCAGTCCTTTGG -3'
(R):5'- TTGACAAATGACTGCCTCTGG -3'
Sequencing Primer
(F):5'- GTTGCTCTCCACCTGGGTACAG -3'
(R):5'- GGCTATCTATACTTCAGCCAGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation