Incidental Mutation 'R6604:Tmem163'
| ID |
525511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem163
|
| Ensembl Gene |
ENSMUSG00000026347 |
| Gene Name |
transmembrane protein 163 |
| Synonyms |
2610024A01Rik, SV31 |
| MMRRC Submission |
044727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R6604 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
127418079-127605758 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127419347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 286
(M286T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027585]
[ENSMUST00000038361]
[ENSMUST00000160616]
[ENSMUST00000185560]
|
| AlphaFold |
Q8C996 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027585
AA Change: M286T
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027585
Gene: ENSMUSG00000026347
AA Change: M286T
| 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 |
probably benign
Transcript: ENSMUST00000038361
|
| SMART Domains |
Protein: ENSMUSP00000038359
Gene: ENSMUSG00000036155
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4525
|
2 |
138 |
3.4e-70 |
PFAM |
|
Pfam:Glyco_transf_18
|
171 |
725 |
9.8e-268 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160111
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160616
AA Change: M286T
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124307
Gene: ENSMUSG00000026347
AA Change: M286T
| 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: M286T
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140828
Gene: ENSMUSG00000026347
AA Change: M286T
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
A |
G |
15: 37,439,823 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
G |
11: 9,328,384 (GRCm39) |
F3486V |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,122,271 (GRCm39) |
L830P |
probably damaging |
Het |
| Aurkb |
T |
A |
11: 68,939,388 (GRCm39) |
L157* |
probably null |
Het |
| Bbs10 |
T |
G |
10: 111,136,965 (GRCm39) |
L693V |
possibly damaging |
Het |
| Dna2 |
G |
T |
10: 62,803,522 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,589,772 (GRCm39) |
L123* |
probably null |
Het |
| Ext1 |
A |
G |
15: 52,946,555 (GRCm39) |
F550L |
probably damaging |
Het |
| Gm5129 |
A |
G |
5: 29,940,765 (GRCm39) |
|
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,786,197 (GRCm39) |
Y332H |
probably damaging |
Het |
| Gpbp1l1 |
C |
T |
4: 116,430,702 (GRCm39) |
P58S |
probably benign |
Het |
| Grk4 |
A |
T |
5: 34,877,208 (GRCm39) |
D301V |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,851,797 (GRCm39) |
E106G |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,318,964 (GRCm39) |
|
probably null |
Het |
| Kcnj6 |
C |
A |
16: 94,563,504 (GRCm39) |
E313D |
probably damaging |
Het |
| Lmna |
A |
G |
3: 88,395,589 (GRCm39) |
V57A |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,221 (GRCm39) |
F226S |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,657,895 (GRCm39) |
|
probably null |
Het |
| Pgr |
A |
C |
9: 8,946,867 (GRCm39) |
T703P |
possibly damaging |
Het |
| Ppig |
T |
C |
2: 69,571,925 (GRCm39) |
S215P |
unknown |
Het |
| Pramel28 |
T |
C |
4: 143,692,567 (GRCm39) |
R145G |
probably benign |
Het |
| Rasgrp3 |
A |
C |
17: 75,810,110 (GRCm39) |
N270T |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,089,351 (GRCm39) |
K1305N |
unknown |
Het |
| Shc1 |
A |
G |
3: 89,329,186 (GRCm39) |
Y10C |
probably damaging |
Het |
| Slc12a1 |
G |
T |
2: 125,026,735 (GRCm39) |
D457Y |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,038,918 (GRCm39) |
Q544R |
possibly damaging |
Het |
| Socs5 |
T |
C |
17: 87,442,553 (GRCm39) |
Y498H |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,242,671 (GRCm39) |
D1472G |
probably benign |
Het |
| Tmem236 |
A |
G |
2: 14,179,512 (GRCm39) |
T38A |
probably benign |
Het |
| Vmn2r29 |
A |
T |
7: 7,234,858 (GRCm39) |
V676E |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,907,694 (GRCm39) |
V56A |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,189 (GRCm39) |
I810T |
possibly damaging |
Het |
| Zfp958 |
T |
C |
8: 4,678,245 (GRCm39) |
L90P |
probably 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 |
|
R6472:Tmem163
|
UTSW |
1 |
127,423,471 (GRCm39) |
missense |
probably benign |
0.09 |
|
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'- CCTAACATGTTTGATGGTGGGC -3'
(R):5'- TGTGGACAGAAGTAGTCATGGC -3'
Sequencing Primer
(F):5'- ATGTAGGGCAGGTCCAGC -3'
(R):5'- GCTAGCCTAGCCTATTCAGTGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation