Incidental Mutation 'IGL02400:Tmem214'
| ID |
291859 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem214
|
| Ensembl Gene |
ENSMUSG00000038828 |
| Gene Name |
transmembrane protein 214 |
| Synonyms |
1110039B18Rik, 4921530J21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.575)
|
| Stock # |
IGL02400
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31026923-31034813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31030090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 296
(A296T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114716]
[ENSMUST00000201203]
|
| AlphaFold |
Q8BM55 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114716
AA Change: A251T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000110364
Gene: ENSMUSG00000038828
AA Change: A251T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
|
Pfam:DUF2359
|
172 |
638 |
8e-247 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201203
AA Change: A296T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000144615
Gene: ENSMUSG00000038828
AA Change: A296T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
|
Pfam:DUF2359
|
217 |
683 |
6.9e-246 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202951
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
A |
G |
10: 76,290,644 (GRCm39) |
I128V |
possibly damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,522,005 (GRCm39) |
Q674K |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,798,849 (GRCm39) |
N851K |
probably benign |
Het |
| Chrna7 |
A |
G |
7: 62,749,070 (GRCm39) |
C471R |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Egflam |
T |
A |
15: 7,276,534 (GRCm39) |
K544M |
probably benign |
Het |
| Erbb3 |
A |
C |
10: 128,415,393 (GRCm39) |
N385K |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,160,589 (GRCm39) |
R1388G |
probably damaging |
Het |
| Gm10720 |
C |
A |
9: 3,016,900 (GRCm39) |
|
probably null |
Het |
| Gm20489 |
A |
T |
X: 100,306,944 (GRCm39) |
N328K |
possibly damaging |
Het |
| Gm5828 |
G |
T |
1: 16,840,042 (GRCm39) |
|
noncoding transcript |
Het |
| Gnaq |
T |
C |
19: 16,293,492 (GRCm39) |
Y145H |
probably damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,083,938 (GRCm39) |
D148G |
probably damaging |
Het |
| Myc |
T |
G |
15: 61,861,760 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,635 (GRCm39) |
V144A |
probably benign |
Het |
| Or5m3b |
A |
T |
2: 85,872,420 (GRCm39) |
I254F |
probably benign |
Het |
| Or6c211 |
A |
G |
10: 129,505,752 (GRCm39) |
V212A |
probably damaging |
Het |
| Padi3 |
T |
G |
4: 140,516,179 (GRCm39) |
K567T |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,111,748 (GRCm39) |
T1576A |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,291,728 (GRCm39) |
R1316G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,620,130 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
G |
A |
10: 8,609,411 (GRCm39) |
R713* |
probably null |
Het |
| Tnfsf4 |
T |
A |
1: 161,223,276 (GRCm39) |
C42S |
possibly damaging |
Het |
| Tpp1 |
A |
G |
7: 105,396,238 (GRCm39) |
I487T |
possibly damaging |
Het |
| Trim43a |
T |
A |
9: 88,464,165 (GRCm39) |
N25K |
probably benign |
Het |
| Tuft1 |
T |
C |
3: 94,542,809 (GRCm39) |
|
probably benign |
Het |
| Usp46 |
T |
C |
5: 74,197,713 (GRCm39) |
H26R |
probably benign |
Het |
| Zfp560 |
A |
T |
9: 20,261,896 (GRCm39) |
I85N |
possibly damaging |
Het |
|
| Other mutations in Tmem214 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01083:Tmem214
|
APN |
5 |
31,033,437 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02119:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02123:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02124:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02126:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02186:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02395:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02396:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02397:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02403:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02404:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02539:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02544:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02934:Tmem214
|
APN |
5 |
31,028,888 (GRCm39) |
missense |
probably benign |
0.26 |
|
PIT4382001:Tmem214
|
UTSW |
5 |
31,028,795 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0501:Tmem214
|
UTSW |
5 |
31,029,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0519:Tmem214
|
UTSW |
5 |
31,027,012 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R0675:Tmem214
|
UTSW |
5 |
31,029,169 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1204:Tmem214
|
UTSW |
5 |
31,033,134 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1616:Tmem214
|
UTSW |
5 |
31,028,907 (GRCm39) |
nonsense |
probably null |
|
|
R2096:Tmem214
|
UTSW |
5 |
31,033,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2219:Tmem214
|
UTSW |
5 |
31,030,975 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5635:Tmem214
|
UTSW |
5 |
31,028,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6003:Tmem214
|
UTSW |
5 |
31,028,068 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6744:Tmem214
|
UTSW |
5 |
31,031,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7208:Tmem214
|
UTSW |
5 |
31,028,065 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8155:Tmem214
|
UTSW |
5 |
31,029,136 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8335:Tmem214
|
UTSW |
5 |
31,029,466 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9562:Tmem214
|
UTSW |
5 |
31,027,043 (GRCm39) |
nonsense |
probably null |
|
|
R9565:Tmem214
|
UTSW |
5 |
31,027,043 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation