Incidental Mutation 'R2289:Tmem163'
| ID |
244195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem163
|
| Ensembl Gene |
ENSMUSG00000026347 |
| Gene Name |
transmembrane protein 163 |
| Synonyms |
2610024A01Rik, SV31 |
| MMRRC Submission |
040288-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R2289 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
127418079-127605758 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127423477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 262
(T262S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027585]
[ENSMUST00000160616]
[ENSMUST00000185560]
|
| AlphaFold |
Q8C996 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027585
AA Change: T262S
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027585
Gene: ENSMUSG00000026347
AA Change: T262S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
89 |
111 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
transmembrane domain
|
223 |
242 |
N/A |
INTRINSIC |
|
transmembrane domain
|
246 |
268 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160111
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160616
AA Change: T262S
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124307
Gene: ENSMUSG00000026347
AA Change: T262S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
89 |
111 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
transmembrane domain
|
223 |
242 |
N/A |
INTRINSIC |
|
transmembrane domain
|
246 |
268 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162406
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185560
AA Change: T262S
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140828
Gene: ENSMUSG00000026347
AA Change: T262S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
89 |
111 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
transmembrane domain
|
223 |
242 |
N/A |
INTRINSIC |
|
transmembrane domain
|
246 |
268 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: This transgene is useful in conjunction during breeding with mice carrying floxed alleles to produce germline excision of specific loxP-flanked sequences. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp12a |
G |
A |
14: 56,610,719 (GRCm39) |
V288I |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,545,989 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cplx3 |
T |
A |
9: 57,520,941 (GRCm39) |
E220V |
possibly damaging |
Het |
| Cracdl |
T |
C |
1: 37,651,342 (GRCm39) |
K1175R |
possibly damaging |
Het |
| Dcaf10 |
T |
A |
4: 45,359,816 (GRCm39) |
W244R |
probably damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,595,172 (GRCm39) |
|
probably null |
Het |
| Dlg4 |
T |
A |
11: 69,917,752 (GRCm39) |
Y12N |
probably damaging |
Het |
| Fsd1l |
T |
A |
4: 53,696,931 (GRCm39) |
Y442N |
possibly damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Hcrt |
C |
A |
11: 100,652,745 (GRCm39) |
A90S |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,648,873 (GRCm39) |
V119D |
probably damaging |
Het |
| Klrh1 |
T |
C |
6: 129,745,140 (GRCm39) |
N152S |
probably null |
Het |
| Lmtk2 |
T |
A |
5: 144,112,924 (GRCm39) |
S1215T |
possibly damaging |
Het |
| Loxl2 |
G |
A |
14: 69,930,524 (GRCm39) |
E763K |
probably benign |
Het |
| Mcrip1 |
T |
C |
11: 120,435,530 (GRCm39) |
E35G |
probably damaging |
Het |
| Nle1 |
T |
A |
11: 82,793,879 (GRCm39) |
I386F |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 108,119,630 (GRCm39) |
I8V |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Pax8 |
T |
C |
2: 24,330,752 (GRCm39) |
D227G |
probably benign |
Het |
| Phf14 |
T |
C |
6: 12,047,845 (GRCm39) |
C885R |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 76,059,046 (GRCm39) |
C251G |
probably damaging |
Het |
| Samd13 |
C |
T |
3: 146,368,446 (GRCm39) |
A49T |
probably damaging |
Het |
| Snrpa1 |
T |
A |
7: 65,713,586 (GRCm39) |
V101E |
probably benign |
Het |
| Styx |
A |
G |
14: 45,592,404 (GRCm39) |
E20G |
possibly damaging |
Het |
| Thoc1 |
T |
C |
18: 9,984,488 (GRCm39) |
Y325H |
probably damaging |
Het |
| Tsr1 |
T |
G |
11: 74,790,111 (GRCm39) |
L102R |
probably damaging |
Het |
| Vash1 |
G |
C |
12: 86,726,952 (GRCm39) |
R64P |
probably damaging |
Het |
| Vps13b |
A |
C |
15: 35,572,251 (GRCm39) |
D956A |
probably damaging |
Het |
| Vrk1 |
G |
A |
12: 106,024,120 (GRCm39) |
G199S |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 33,102,334 (GRCm39) |
S333T |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,768 (GRCm39) |
Y140H |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,635,789 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tmem163 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01747:Tmem163
|
APN |
1 |
127,596,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02850:Tmem163
|
APN |
1 |
127,427,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0201:Tmem163
|
UTSW |
1 |
127,596,374 (GRCm39) |
splice site |
probably benign |
|
|
R1723:Tmem163
|
UTSW |
1 |
127,479,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Tmem163
|
UTSW |
1 |
127,605,246 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1836:Tmem163
|
UTSW |
1 |
127,605,246 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4907:Tmem163
|
UTSW |
1 |
127,447,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4912:Tmem163
|
UTSW |
1 |
127,419,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5076:Tmem163
|
UTSW |
1 |
127,428,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Tmem163
|
UTSW |
1 |
127,419,289 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5270:Tmem163
|
UTSW |
1 |
127,419,289 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5271:Tmem163
|
UTSW |
1 |
127,419,289 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5366:Tmem163
|
UTSW |
1 |
127,428,042 (GRCm39) |
splice site |
probably benign |
|
|
R5617:Tmem163
|
UTSW |
1 |
127,479,067 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5928:Tmem163
|
UTSW |
1 |
127,419,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6115:Tmem163
|
UTSW |
1 |
127,605,185 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6146:Tmem163
|
UTSW |
1 |
127,447,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6316:Tmem163
|
UTSW |
1 |
127,479,102 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6472:Tmem163
|
UTSW |
1 |
127,423,471 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6604:Tmem163
|
UTSW |
1 |
127,419,347 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6765:Tmem163
|
UTSW |
1 |
127,479,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Tmem163
|
UTSW |
1 |
127,479,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Tmem163
|
UTSW |
1 |
127,447,180 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7737:Tmem163
|
UTSW |
1 |
127,419,347 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9502:Tmem163
|
UTSW |
1 |
127,480,529 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTGACCCAGTTAGTTGGT -3'
(R):5'- AGACTATGAAATGCTGACCTCAT -3'
Sequencing Primer
(F):5'- CCATCTTTAGTGACCTACAGGGG -3'
(R):5'- GAAATGCTGACCTCATATCACTGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation