Incidental Mutation 'IGL03337:Tmem213'
| ID |
417078 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem213
|
| Ensembl Gene |
ENSMUSG00000029829 |
| Gene Name |
transmembrane protein 213 |
| Synonyms |
D630002J15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL03337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
38086288-38092741 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 38086478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031851]
[ENSMUST00000040259]
[ENSMUST00000114908]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031851
AA Change: S45P
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031851
Gene: ENSMUSG00000029829
AA Change: S45P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM213
|
49 |
127 |
7.2e-45 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000040259
|
| SMART Domains |
Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
26 |
824 |
3.5e-293 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114908
|
| SMART Domains |
Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V_ATPase_I
|
27 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130816
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,995,930 (GRCm39) |
I1356V |
probably benign |
Het |
| Akr1b8 |
T |
C |
6: 34,331,209 (GRCm39) |
I15T |
probably benign |
Het |
| Arrdc3 |
G |
A |
13: 81,038,766 (GRCm39) |
V23I |
probably benign |
Het |
| Bmp6 |
G |
A |
13: 38,682,919 (GRCm39) |
V470I |
probably damaging |
Het |
| Cltc |
A |
T |
11: 86,594,509 (GRCm39) |
I1476N |
possibly damaging |
Het |
| Dclk2 |
A |
C |
3: 86,813,366 (GRCm39) |
I193M |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,290,287 (GRCm39) |
M1226V |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,818,328 (GRCm39) |
S38P |
probably damaging |
Het |
| Gm6455 |
A |
G |
5: 10,917,251 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv4-62 |
A |
T |
6: 69,376,946 (GRCm39) |
W68R |
probably damaging |
Het |
| Lbr |
C |
T |
1: 181,659,788 (GRCm39) |
G136R |
possibly damaging |
Het |
| Ldhb |
C |
T |
6: 142,439,882 (GRCm39) |
M219I |
probably benign |
Het |
| Lysmd2 |
A |
G |
9: 75,542,945 (GRCm39) |
D184G |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,221,790 (GRCm39) |
M150K |
probably damaging |
Het |
| Pdss2 |
T |
C |
10: 43,221,589 (GRCm39) |
V167A |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,506,304 (GRCm39) |
D1528E |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,405,173 (GRCm39) |
C757Y |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,851,278 (GRCm39) |
S929P |
probably damaging |
Het |
| Utp20 |
T |
A |
10: 88,590,428 (GRCm39) |
M2349L |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,810 (GRCm39) |
I278F |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,509 (GRCm39) |
N374S |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,381,918 (GRCm39) |
T1089A |
probably benign |
Het |
|
| Other mutations in Tmem213 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01924:Tmem213
|
APN |
6 |
38,086,373 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02969:Tmem213
|
APN |
6 |
38,092,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1864:Tmem213
|
UTSW |
6 |
38,086,487 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1865:Tmem213
|
UTSW |
6 |
38,086,487 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5557:Tmem213
|
UTSW |
6 |
38,086,466 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5809:Tmem213
|
UTSW |
6 |
38,092,589 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5999:Tmem213
|
UTSW |
6 |
38,086,386 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6209:Tmem213
|
UTSW |
6 |
38,092,517 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6230:Tmem213
|
UTSW |
6 |
38,091,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0067:Tmem213
|
UTSW |
6 |
38,086,469 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Posted On |
2016-08-02 |
Incidental Mutation