Incidental Mutation 'R2410:Tmem255b'
| ID |
249952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem255b
|
| Ensembl Gene |
ENSMUSG00000038457 |
| Gene Name |
transmembrane protein 255B |
| Synonyms |
Fam70b, LOC272465 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R2410 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13485189-13518473 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13491278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 66
(I66V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167071]
[ENSMUST00000167505]
[ENSMUST00000210804]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167071
AA Change: I66V
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127421
Gene: ENSMUSG00000038457
AA Change: I66V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM70
|
1 |
68 |
8.2e-28 |
PFAM |
|
Pfam:FAM70
|
66 |
307 |
1.8e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167505
AA Change: I66V
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130504
Gene: ENSMUSG00000038457
AA Change: I66V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM70
|
6 |
328 |
6e-166 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211356
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Adgrf5 |
C |
A |
17: 43,766,157 (GRCm39) |
N1326K |
probably benign |
Het |
| Ciita |
A |
G |
16: 10,328,568 (GRCm39) |
E284G |
probably damaging |
Het |
| Ctbp2 |
T |
C |
7: 132,616,083 (GRCm39) |
Y284C |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,991,262 (GRCm39) |
D2368G |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,650,716 (GRCm39) |
V807I |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,439,240 (GRCm39) |
D491G |
probably damaging |
Het |
| Ero1a |
C |
T |
14: 45,542,723 (GRCm39) |
V101I |
possibly damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,895,111 (GRCm39) |
Y9H |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,496,453 (GRCm39) |
Y299C |
possibly damaging |
Het |
| Lamc1 |
G |
A |
1: 153,123,141 (GRCm39) |
T683M |
possibly damaging |
Het |
| Lrrc39 |
C |
T |
3: 116,374,899 (GRCm39) |
P327S |
probably benign |
Het |
| Marf1 |
A |
T |
16: 13,933,691 (GRCm39) |
F1566I |
probably benign |
Het |
| Me2 |
A |
T |
18: 73,924,183 (GRCm39) |
M343K |
probably damaging |
Het |
| Mlxip |
T |
A |
5: 123,581,132 (GRCm39) |
W260R |
probably damaging |
Het |
| Mrps17 |
T |
C |
5: 129,795,047 (GRCm39) |
V64A |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,974,899 (GRCm39) |
I156N |
possibly damaging |
Het |
| Phldb3 |
C |
T |
7: 24,323,719 (GRCm39) |
S450L |
probably benign |
Het |
| Pi4k2a |
A |
G |
19: 42,093,316 (GRCm39) |
E219G |
possibly damaging |
Het |
| Polr1a |
T |
C |
6: 71,951,866 (GRCm39) |
S1478P |
probably benign |
Het |
| Rab14 |
T |
C |
2: 35,076,762 (GRCm39) |
|
probably null |
Het |
| Rnf43 |
T |
C |
11: 87,623,085 (GRCm39) |
Y729H |
possibly damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Sorbs1 |
T |
A |
19: 40,361,959 (GRCm39) |
I142F |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,996,123 (GRCm39) |
D175G |
probably damaging |
Het |
| Zfp954 |
A |
T |
7: 7,120,808 (GRCm39) |
I74N |
probably benign |
Het |
|
| Other mutations in Tmem255b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Tmem255b
|
APN |
8 |
13,507,054 (GRCm39) |
missense |
probably benign |
|
|
IGL02635:Tmem255b
|
APN |
8 |
13,505,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02679:Tmem255b
|
APN |
8 |
13,507,055 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02945:Tmem255b
|
APN |
8 |
13,505,141 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03007:Tmem255b
|
APN |
8 |
13,507,066 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03146:Tmem255b
|
APN |
8 |
13,504,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2278:Tmem255b
|
UTSW |
8 |
13,501,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Tmem255b
|
UTSW |
8 |
13,501,048 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4498:Tmem255b
|
UTSW |
8 |
13,505,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Tmem255b
|
UTSW |
8 |
13,504,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6018:Tmem255b
|
UTSW |
8 |
13,505,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6073:Tmem255b
|
UTSW |
8 |
13,506,958 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6240:Tmem255b
|
UTSW |
8 |
13,504,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Tmem255b
|
UTSW |
8 |
13,507,096 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8231:Tmem255b
|
UTSW |
8 |
13,504,225 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9653:Tmem255b
|
UTSW |
8 |
13,506,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGGGTAATTAGCCCTCAG -3'
(R):5'- AACACTGGCCTGCGAACATG -3'
Sequencing Primer
(F):5'- CCTCAGCTCACCAATACCTTTC -3'
(R):5'- TTAGGGCCCTCTAACCAGCAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation