Incidental Mutation 'R6472:Tmem163'
| ID |
516369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem163
|
| Ensembl Gene |
ENSMUSG00000026347 |
| Gene Name |
transmembrane protein 163 |
| Synonyms |
2610024A01Rik, SV31 |
| MMRRC Submission |
044605-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R6472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
127418079-127605758 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 127423471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 264
(F264V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027585]
[ENSMUST00000160616]
[ENSMUST00000185560]
|
| AlphaFold |
Q8C996 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027585
AA Change: F264V
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000027585
Gene: ENSMUSG00000026347
AA Change: F264V
| 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 |
probably benign
Transcript: ENSMUST00000160616
AA Change: F264V
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000124307
Gene: ENSMUSG00000026347
AA Change: F264V
| 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 |
probably benign
Transcript: ENSMUST00000185560
AA Change: F264V
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140828
Gene: ENSMUSG00000026347
AA Change: F264V
| 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 |
|
| Meta Mutation Damage Score |
0.0762 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.4%
|
| Validation Efficiency |
100% (30/30) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
T |
16: 90,852,891 (GRCm39) |
S82T |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,085,991 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,596,783 (GRCm39) |
Y1238H |
probably benign |
Het |
| Ccn3 |
A |
T |
15: 54,612,668 (GRCm39) |
T226S |
possibly damaging |
Het |
| Cdadc1 |
T |
C |
14: 59,823,491 (GRCm39) |
T334A |
probably damaging |
Het |
| Csrp3 |
G |
A |
7: 48,485,356 (GRCm39) |
T47I |
possibly damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,649 (GRCm39) |
R173H |
probably damaging |
Het |
| Fads6 |
T |
C |
11: 115,176,962 (GRCm39) |
T165A |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,975 (GRCm39) |
S566P |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,180,463 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
A |
G |
13: 12,449,111 (GRCm39) |
D1897G |
probably benign |
Het |
| Il2ra |
G |
A |
2: 11,686,780 (GRCm39) |
E204K |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,541,868 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Odr4 |
C |
T |
1: 150,257,273 (GRCm39) |
D230N |
probably benign |
Het |
| Or2a20 |
A |
G |
6: 43,194,293 (GRCm39) |
I149V |
probably benign |
Het |
| Or2aa1 |
G |
A |
11: 59,480,582 (GRCm39) |
T111I |
probably benign |
Het |
| Or7g22 |
T |
A |
9: 19,048,711 (GRCm39) |
C141S |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,534 (GRCm39) |
L184* |
probably null |
Het |
| Pappa2 |
T |
C |
1: 158,662,369 (GRCm39) |
D1202G |
probably damaging |
Het |
| Pcp4l1 |
A |
T |
1: 171,002,004 (GRCm39) |
I52N |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,846,067 (GRCm39) |
W665* |
probably null |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Snrpb2 |
A |
G |
2: 142,910,221 (GRCm39) |
K93R |
possibly damaging |
Het |
| Syt10 |
T |
G |
15: 89,698,761 (GRCm39) |
E194D |
probably benign |
Het |
| Trav3-1 |
G |
T |
14: 52,818,507 (GRCm39) |
E60D |
possibly damaging |
Het |
| Vmn1r237 |
G |
A |
17: 21,534,616 (GRCm39) |
S113N |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,246,610 (GRCm39) |
S651P |
possibly damaging |
Het |
| Wnt3 |
G |
A |
11: 103,699,100 (GRCm39) |
V69I |
possibly damaging |
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 |
|
R2289:Tmem163
|
UTSW |
1 |
127,423,477 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
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 |
|
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'- ACCCAGTTAGTTGGTCAATGTTTTG -3'
(R):5'- TGAAATGCTGACCTCATATCACT -3'
Sequencing Primer
(F):5'- CCATCTTTAGTGACCTACAGGGG -3'
(R):5'- AATGCTGACCTCATATCACTGTGTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation