Incidental Mutation 'IGL02397:Tmem214'
ID |
291729 |
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 # |
IGL02397
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,623,834 (GRCm39) |
N400S |
probably benign |
Het |
Adam12 |
T |
A |
7: 133,511,548 (GRCm39) |
|
probably benign |
Het |
Adam5 |
T |
C |
8: 25,234,149 (GRCm39) |
|
probably benign |
Het |
Amn |
A |
T |
12: 111,240,913 (GRCm39) |
Y139F |
possibly damaging |
Het |
Ano10 |
C |
A |
9: 122,090,458 (GRCm39) |
R285L |
probably damaging |
Het |
Atad2b |
A |
G |
12: 5,024,046 (GRCm39) |
Y57C |
probably damaging |
Het |
Brd8 |
T |
C |
18: 34,737,926 (GRCm39) |
K786R |
probably damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,525,162 (GRCm39) |
|
probably benign |
Het |
Card9 |
C |
T |
2: 26,242,341 (GRCm39) |
D532N |
probably damaging |
Het |
Cd22 |
T |
C |
7: 30,577,050 (GRCm39) |
T86A |
probably benign |
Het |
Cebpz |
A |
T |
17: 79,230,690 (GRCm39) |
D842E |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cspp1 |
A |
G |
1: 10,178,690 (GRCm39) |
N713S |
possibly damaging |
Het |
Eml5 |
T |
C |
12: 98,756,933 (GRCm39) |
T1899A |
probably benign |
Het |
Fpgs |
T |
C |
2: 32,575,801 (GRCm39) |
T381A |
probably damaging |
Het |
Frmd7 |
G |
A |
X: 49,984,775 (GRCm39) |
T465I |
possibly damaging |
Het |
Gm9837 |
A |
T |
11: 53,360,987 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
C |
A |
4: 116,860,333 (GRCm39) |
A816D |
possibly damaging |
Het |
Itpripl2 |
A |
G |
7: 118,089,519 (GRCm39) |
W347R |
probably damaging |
Het |
Kcnc3 |
A |
G |
7: 44,245,218 (GRCm39) |
T503A |
probably damaging |
Het |
Mmadhc |
T |
C |
2: 50,178,992 (GRCm39) |
E142G |
possibly damaging |
Het |
Nabp2 |
T |
A |
10: 128,244,192 (GRCm39) |
N138I |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,967,725 (GRCm39) |
V2902A |
possibly damaging |
Het |
Rbm8a2 |
T |
C |
1: 175,806,204 (GRCm39) |
D91G |
probably damaging |
Het |
Samd3 |
A |
T |
10: 26,109,474 (GRCm39) |
Y134F |
possibly damaging |
Het |
Slc11a2 |
A |
G |
15: 100,299,530 (GRCm39) |
F58S |
probably damaging |
Het |
Slitrk4 |
T |
C |
X: 63,316,290 (GRCm39) |
T126A |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,438,572 (GRCm39) |
P1547T |
probably benign |
Het |
Tecta |
T |
C |
9: 42,306,294 (GRCm39) |
S45G |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,689,729 (GRCm39) |
T1937A |
possibly damaging |
Het |
Trmt1l |
T |
A |
1: 151,315,282 (GRCm39) |
I156N |
probably damaging |
Het |
Vmn1r71 |
C |
T |
7: 10,482,199 (GRCm39) |
R163Q |
probably benign |
Het |
Ythdf2 |
C |
T |
4: 131,938,757 (GRCm39) |
G13D |
probably damaging |
Het |
Zbtb7c |
A |
T |
18: 76,270,047 (GRCm39) |
Y45F |
possibly damaging |
Het |
Zfc3h1 |
G |
A |
10: 115,243,890 (GRCm39) |
M740I |
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 |
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 |
2015-04-16 |