Incidental Mutation 'IGL02404:Tmem214'
ID |
292002 |
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 # |
IGL02404
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
T |
C |
15: 98,494,819 (GRCm39) |
I745V |
probably benign |
Het |
Alppl2 |
A |
G |
1: 87,016,585 (GRCm39) |
V163A |
possibly damaging |
Het |
Atad2b |
T |
A |
12: 4,991,972 (GRCm39) |
S190R |
probably benign |
Het |
Cep68 |
A |
G |
11: 20,190,004 (GRCm39) |
V336A |
possibly damaging |
Het |
Clcn4 |
A |
C |
7: 7,290,857 (GRCm39) |
N587K |
probably benign |
Het |
Clic1 |
A |
G |
17: 35,271,852 (GRCm39) |
E82G |
probably damaging |
Het |
Cnbd1 |
T |
C |
4: 18,895,047 (GRCm39) |
S232G |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,216,768 (GRCm39) |
I662T |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Daw1 |
A |
G |
1: 83,174,952 (GRCm39) |
T151A |
probably benign |
Het |
Dysf |
A |
G |
6: 84,093,043 (GRCm39) |
E1052G |
probably damaging |
Het |
Gpr12 |
G |
A |
5: 146,520,733 (GRCm39) |
A63V |
probably damaging |
Het |
Inmt |
C |
T |
6: 55,148,095 (GRCm39) |
R178Q |
possibly damaging |
Het |
Metap1 |
A |
T |
3: 138,195,069 (GRCm39) |
C22S |
probably damaging |
Het |
Mst1r |
A |
T |
9: 107,790,266 (GRCm39) |
|
probably benign |
Het |
Or2ag17 |
A |
C |
7: 106,389,566 (GRCm39) |
I214S |
probably damaging |
Het |
Phkb |
T |
C |
8: 86,604,744 (GRCm39) |
S58P |
possibly damaging |
Het |
Pigs |
T |
A |
11: 78,230,857 (GRCm39) |
I368N |
probably benign |
Het |
Plekhm1 |
C |
T |
11: 103,285,824 (GRCm39) |
D204N |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,764,431 (GRCm39) |
|
probably benign |
Het |
Rps4l |
A |
G |
6: 148,256,277 (GRCm39) |
|
probably benign |
Het |
Scn8a |
T |
A |
15: 100,937,611 (GRCm39) |
M1660K |
probably damaging |
Het |
Sec31b |
A |
C |
19: 44,523,227 (GRCm39) |
V23G |
probably damaging |
Het |
Sorcs3 |
T |
C |
19: 48,692,809 (GRCm39) |
|
probably benign |
Het |
Thap12 |
A |
G |
7: 98,359,340 (GRCm39) |
Y73C |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 129,540,888 (GRCm39) |
C254Y |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,770,322 (GRCm39) |
N2623I |
possibly damaging |
Het |
Ulk1 |
A |
T |
5: 110,944,100 (GRCm39) |
|
probably null |
Het |
Vps13d |
T |
C |
4: 144,875,305 (GRCm39) |
Y1734C |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,113,171 (GRCm39) |
D143G |
possibly damaging |
Het |
Wac |
A |
G |
18: 7,917,570 (GRCm39) |
T347A |
probably damaging |
Het |
Wdr62 |
G |
T |
7: 29,967,298 (GRCm39) |
R319S |
probably damaging |
Het |
Zfp668 |
T |
C |
7: 127,465,532 (GRCm39) |
K551E |
probably 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 |
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 |
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 |