Incidental Mutation 'IGL01083:Tmem214'
| ID |
51063 |
| 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: 0.546)
|
| Stock # |
IGL01083
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31026923-31034813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31033437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 557
(V557M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114716]
[ENSMUST00000201203]
|
| AlphaFold |
Q8BM55 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046349
AA Change: V557M
PolyPhen 2
Score 0.010 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037484
Gene: ENSMUSG00000038828
AA Change: V557M
| 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 |
probably benign
Transcript: ENSMUST00000114716
AA Change: V512M
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110364
Gene: ENSMUSG00000038828
AA Change: V512M
| 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: V557M
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144615
Gene: ENSMUSG00000038828
AA Change: V557M
| 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: ENSMUST00000202774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202951
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
C |
15: 64,659,191 (GRCm39) |
D533G |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,283,298 (GRCm39) |
V136A |
possibly damaging |
Het |
| Aggf1 |
A |
G |
13: 95,492,917 (GRCm39) |
V564A |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,186 (GRCm39) |
T570A |
probably benign |
Het |
| Bicdl2 |
A |
G |
17: 23,887,105 (GRCm39) |
Q464R |
probably damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Chd8 |
C |
A |
14: 52,458,877 (GRCm39) |
R792L |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,802,755 (GRCm39) |
I844F |
possibly damaging |
Het |
| Dock4 |
G |
A |
12: 40,838,380 (GRCm39) |
|
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,096,769 (GRCm39) |
T166A |
probably benign |
Het |
| Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,291,680 (GRCm39) |
Y590C |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,927,871 (GRCm39) |
E441G |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,031,678 (GRCm39) |
S107G |
probably damaging |
Het |
| Klra9 |
A |
G |
6: 130,166,729 (GRCm39) |
L45P |
possibly damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,189,525 (GRCm39) |
Y299C |
probably damaging |
Het |
| Myo5b |
T |
A |
18: 74,866,974 (GRCm39) |
|
probably benign |
Het |
| Obscn |
G |
A |
11: 58,926,919 (GRCm39) |
T5532M |
probably damaging |
Het |
| Or5ac25 |
G |
A |
16: 59,182,198 (GRCm39) |
P128S |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,991,841 (GRCm39) |
S165P |
probably benign |
Het |
| Pramel17 |
T |
A |
4: 101,692,729 (GRCm39) |
M424L |
probably benign |
Het |
| Prokr1 |
A |
T |
6: 87,565,766 (GRCm39) |
H26Q |
probably benign |
Het |
| Prrc2a |
G |
T |
17: 35,375,177 (GRCm39) |
R1158S |
possibly damaging |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,549 (GRCm39) |
W680R |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,582,191 (GRCm39) |
|
probably benign |
Het |
| Sars1 |
A |
G |
3: 108,334,174 (GRCm39) |
L528P |
probably damaging |
Het |
| Serpinb3b |
T |
A |
1: 107,085,473 (GRCm39) |
L89F |
possibly damaging |
Het |
| Slc38a6 |
T |
C |
12: 73,335,267 (GRCm39) |
V70A |
possibly damaging |
Het |
| Son |
G |
A |
16: 91,454,279 (GRCm39) |
E1009K |
probably damaging |
Het |
| Thoc3 |
A |
C |
13: 54,615,633 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
A |
11: 105,112,050 (GRCm39) |
C88S |
probably benign |
Het |
| Tmem182 |
T |
A |
1: 40,844,977 (GRCm39) |
F21Y |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,493,463 (GRCm39) |
T527A |
probably benign |
Het |
|
| Other mutations in Tmem214 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02400: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 |
2013-06-21 |
Incidental Mutation