Incidental Mutation 'IGL01094:Tmem217'
| ID |
53052 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem217
|
| Ensembl Gene |
ENSMUSG00000079580 |
| Gene Name |
transmembrane protein 217 |
| Synonyms |
4933413N12Rik, EG622644 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
29744981-29771359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29745566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 55
(R55G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114683]
[ENSMUST00000168339]
|
| AlphaFold |
Q14AF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114683
AA Change: R55G
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000110331
Gene: ENSMUSG00000079580
AA Change: R55G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4534
|
11 |
168 |
6.8e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168339
AA Change: R55G
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132463
Gene: ENSMUSG00000079580
AA Change: R55G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4534
|
11 |
168 |
5.3e-62 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
A |
T |
1: 177,612,508 (GRCm39) |
H80Q |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,847,959 (GRCm39) |
N456D |
probably damaging |
Het |
| Alpk2 |
T |
G |
18: 65,439,673 (GRCm39) |
E573D |
probably damaging |
Het |
| Axin2 |
G |
A |
11: 108,814,501 (GRCm39) |
V130M |
probably damaging |
Het |
| Cadm4 |
T |
C |
7: 24,202,184 (GRCm39) |
L341P |
possibly damaging |
Het |
| Col20a1 |
G |
A |
2: 180,641,559 (GRCm39) |
C625Y |
probably damaging |
Het |
| Col6a3 |
T |
G |
1: 90,731,655 (GRCm39) |
I1533L |
possibly damaging |
Het |
| Dusp10 |
A |
T |
1: 183,769,697 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
A |
6: 84,171,368 (GRCm39) |
I1837N |
probably damaging |
Het |
| Fbxw19 |
A |
G |
9: 109,322,614 (GRCm39) |
S119P |
probably benign |
Het |
| Il22ra1 |
C |
A |
4: 135,478,395 (GRCm39) |
P489T |
possibly damaging |
Het |
| Il7r |
A |
T |
15: 9,508,085 (GRCm39) |
N412K |
possibly damaging |
Het |
| Kdr |
A |
T |
5: 76,122,420 (GRCm39) |
Y502N |
probably benign |
Het |
| Med12l |
T |
A |
3: 59,001,076 (GRCm39) |
L713H |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,707,771 (GRCm39) |
|
probably benign |
Het |
| Or4a70 |
A |
G |
2: 89,324,182 (GRCm39) |
V158A |
probably benign |
Het |
| Piezo1 |
T |
A |
8: 123,208,877 (GRCm39) |
E2495D |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,325 (GRCm39) |
F2611L |
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,432,132 (GRCm39) |
C84R |
probably damaging |
Het |
| Prss3l |
A |
G |
6: 41,420,357 (GRCm39) |
V123A |
possibly damaging |
Het |
| Scfd2 |
G |
T |
5: 74,691,707 (GRCm39) |
P192T |
possibly damaging |
Het |
| Tm4sf19 |
A |
G |
16: 32,224,772 (GRCm39) |
N40S |
possibly damaging |
Het |
| Tmc2 |
T |
C |
2: 130,102,086 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,734,592 (GRCm39) |
D3205G |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,793,566 (GRCm39) |
N440D |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,055,838 (GRCm39) |
|
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,723 (GRCm39) |
H790Q |
probably damaging |
Het |
|
| Other mutations in Tmem217 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01695:Tmem217
|
APN |
17 |
29,745,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02081:Tmem217
|
APN |
17 |
29,745,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02704:Tmem217
|
APN |
17 |
29,745,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02804:Tmem217
|
APN |
17 |
29,745,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Tmem217
|
UTSW |
17 |
29,745,466 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0200:Tmem217
|
UTSW |
17 |
29,745,284 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0266:Tmem217
|
UTSW |
17 |
29,745,573 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0906:Tmem217
|
UTSW |
17 |
29,745,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3111:Tmem217
|
UTSW |
17 |
29,745,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3927:Tmem217
|
UTSW |
17 |
29,745,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5628:Tmem217
|
UTSW |
17 |
29,745,430 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5822:Tmem217
|
UTSW |
17 |
29,745,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6766:Tmem217
|
UTSW |
17 |
29,745,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8301:Tmem217
|
UTSW |
17 |
29,745,466 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9316:Tmem217
|
UTSW |
17 |
29,745,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9424:Tmem217
|
UTSW |
17 |
29,745,690 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9799:Tmem217
|
UTSW |
17 |
29,745,232 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2013-06-21 |
Incidental Mutation