Incidental Mutation 'IGL01418:Tmem87a'
ID |
278472 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem87a
|
Ensembl Gene |
ENSMUSG00000033808 |
Gene Name |
transmembrane protein 87A |
Synonyms |
A930025J12Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.266)
|
Stock # |
IGL01418
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
120185793-120234594 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120216351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 180
(T180A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106357
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090042]
[ENSMUST00000090046]
[ENSMUST00000110729]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090042
AA Change: T180A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000087496 Gene: ENSMUSG00000033808 AA Change: T180A
Domain | Start | End | E-Value | Type |
Pfam:Lung_7-TM_R
|
184 |
471 |
1.1e-87 |
PFAM |
low complexity region
|
480 |
486 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090046
AA Change: T180A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000087500 Gene: ENSMUSG00000033808 AA Change: T180A
Domain | Start | End | E-Value | Type |
Pfam:Lung_7-TM_R
|
185 |
472 |
1.5e-85 |
PFAM |
low complexity region
|
481 |
487 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110729
AA Change: T180A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000106357 Gene: ENSMUSG00000033808 AA Change: T180A
Domain | Start | End | E-Value | Type |
Pfam:Lung_7-TM_R
|
184 |
472 |
2.4e-86 |
PFAM |
low complexity region
|
481 |
487 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124806
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143182
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151740
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam7 |
T |
A |
14: 68,762,655 (GRCm39) |
H190L |
probably benign |
Het |
Apoo-ps |
T |
A |
13: 107,551,032 (GRCm39) |
|
noncoding transcript |
Het |
Asic1 |
T |
A |
15: 99,569,998 (GRCm39) |
N106K |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,479,524 (GRCm39) |
A214T |
probably damaging |
Het |
Cfap221 |
T |
A |
1: 119,912,801 (GRCm39) |
H91L |
possibly damaging |
Het |
Cnga4 |
A |
T |
7: 105,054,169 (GRCm39) |
M46L |
probably benign |
Het |
Ctcfl |
T |
C |
2: 172,960,124 (GRCm39) |
E153G |
probably benign |
Het |
Cubn |
C |
T |
2: 13,288,852 (GRCm39) |
V3374I |
probably benign |
Het |
Cyb561a3 |
T |
A |
19: 10,562,610 (GRCm39) |
H83Q |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 117,951,217 (GRCm39) |
W1126* |
probably null |
Het |
E130311K13Rik |
A |
C |
3: 63,827,683 (GRCm39) |
L141R |
possibly damaging |
Het |
Ercc5 |
A |
G |
1: 44,206,440 (GRCm39) |
K451R |
probably benign |
Het |
Fbxo34 |
T |
A |
14: 47,768,241 (GRCm39) |
C585S |
possibly damaging |
Het |
Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
Ifi214 |
T |
A |
1: 173,356,995 (GRCm39) |
N36I |
probably damaging |
Het |
Il17ra |
A |
G |
6: 120,452,542 (GRCm39) |
N242D |
probably benign |
Het |
Itpr1 |
T |
A |
6: 108,316,585 (GRCm39) |
|
probably null |
Het |
Lactb |
T |
C |
9: 66,875,045 (GRCm39) |
D349G |
possibly damaging |
Het |
Lrp2 |
C |
T |
2: 69,355,630 (GRCm39) |
V405I |
probably benign |
Het |
Map1b |
A |
T |
13: 99,568,338 (GRCm39) |
I1461K |
unknown |
Het |
Mdh2 |
T |
A |
5: 135,814,879 (GRCm39) |
I116N |
probably damaging |
Het |
Nek5 |
A |
C |
8: 22,585,285 (GRCm39) |
I364S |
probably damaging |
Het |
Nr2c1 |
A |
T |
10: 94,026,552 (GRCm39) |
M476L |
probably damaging |
Het |
Or10j2 |
T |
A |
1: 173,098,275 (GRCm39) |
C178S |
probably damaging |
Het |
Or1d2 |
T |
C |
11: 74,255,810 (GRCm39) |
V105A |
possibly damaging |
Het |
Or4k42 |
T |
C |
2: 111,319,984 (GRCm39) |
E173G |
probably benign |
Het |
Or5w19 |
T |
C |
2: 87,698,809 (GRCm39) |
V158A |
probably benign |
Het |
Pcdhb8 |
A |
G |
18: 37,489,029 (GRCm39) |
N236D |
probably damaging |
Het |
Phf10 |
C |
A |
17: 15,165,396 (GRCm39) |
V487L |
probably benign |
Het |
Pramel22 |
A |
T |
4: 143,381,887 (GRCm39) |
F270I |
probably benign |
Het |
Ptpn3 |
G |
A |
4: 57,270,156 (GRCm39) |
T2I |
probably damaging |
Het |
Rbl1 |
T |
C |
2: 156,994,812 (GRCm39) |
|
probably null |
Het |
Slc24a3 |
A |
G |
2: 145,482,169 (GRCm39) |
D609G |
probably damaging |
Het |
Slc25a40 |
A |
C |
5: 8,503,298 (GRCm39) |
*338Y |
probably null |
Het |
Slc5a8 |
G |
T |
10: 88,740,895 (GRCm39) |
C270F |
probably damaging |
Het |
Slfn8 |
T |
C |
11: 82,895,462 (GRCm39) |
D448G |
probably damaging |
Het |
Trim30c |
A |
G |
7: 104,031,541 (GRCm39) |
S425P |
possibly damaging |
Het |
Ubap1 |
A |
T |
4: 41,387,333 (GRCm39) |
R414S |
probably benign |
Het |
Vipas39 |
G |
A |
12: 87,296,171 (GRCm39) |
T274I |
probably benign |
Het |
Zfp507 |
T |
A |
7: 35,493,237 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Tmem87a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00491:Tmem87a
|
APN |
2 |
120,210,261 (GRCm39) |
splice site |
probably benign |
|
IGL00912:Tmem87a
|
APN |
2 |
120,234,417 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL01301:Tmem87a
|
APN |
2 |
120,211,250 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01413:Tmem87a
|
APN |
2 |
120,216,351 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02083:Tmem87a
|
APN |
2 |
120,227,861 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02150:Tmem87a
|
APN |
2 |
120,190,557 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02256:Tmem87a
|
APN |
2 |
120,208,377 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02314:Tmem87a
|
APN |
2 |
120,234,502 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02501:Tmem87a
|
APN |
2 |
120,234,534 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02550:Tmem87a
|
APN |
2 |
120,204,966 (GRCm39) |
splice site |
probably null |
|
IGL03082:Tmem87a
|
APN |
2 |
120,227,847 (GRCm39) |
missense |
possibly damaging |
0.81 |
Fugal
|
UTSW |
2 |
120,190,518 (GRCm39) |
critical splice donor site |
probably null |
|
Ingenuity
|
UTSW |
2 |
120,224,841 (GRCm39) |
critical splice donor site |
probably null |
|
ANU18:Tmem87a
|
UTSW |
2 |
120,211,250 (GRCm39) |
missense |
probably benign |
0.01 |
R0254:Tmem87a
|
UTSW |
2 |
120,205,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R0285:Tmem87a
|
UTSW |
2 |
120,224,905 (GRCm39) |
missense |
probably benign |
0.01 |
R0498:Tmem87a
|
UTSW |
2 |
120,224,946 (GRCm39) |
missense |
probably benign |
0.01 |
R0611:Tmem87a
|
UTSW |
2 |
120,205,929 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0632:Tmem87a
|
UTSW |
2 |
120,190,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R0787:Tmem87a
|
UTSW |
2 |
120,200,965 (GRCm39) |
missense |
probably benign |
0.22 |
R1599:Tmem87a
|
UTSW |
2 |
120,224,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R1977:Tmem87a
|
UTSW |
2 |
120,204,985 (GRCm39) |
missense |
probably benign |
0.02 |
R2059:Tmem87a
|
UTSW |
2 |
120,199,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R2396:Tmem87a
|
UTSW |
2 |
120,234,540 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
R2496:Tmem87a
|
UTSW |
2 |
120,224,859 (GRCm39) |
missense |
probably damaging |
0.96 |
R4478:Tmem87a
|
UTSW |
2 |
120,199,824 (GRCm39) |
nonsense |
probably null |
|
R4621:Tmem87a
|
UTSW |
2 |
120,227,905 (GRCm39) |
missense |
probably benign |
0.00 |
R4739:Tmem87a
|
UTSW |
2 |
120,190,518 (GRCm39) |
critical splice donor site |
probably null |
|
R5138:Tmem87a
|
UTSW |
2 |
120,202,026 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5314:Tmem87a
|
UTSW |
2 |
120,208,407 (GRCm39) |
missense |
probably damaging |
0.99 |
R5391:Tmem87a
|
UTSW |
2 |
120,193,358 (GRCm39) |
critical splice donor site |
probably null |
|
R5536:Tmem87a
|
UTSW |
2 |
120,227,911 (GRCm39) |
missense |
probably damaging |
0.96 |
R5618:Tmem87a
|
UTSW |
2 |
120,199,787 (GRCm39) |
missense |
probably benign |
0.44 |
R5642:Tmem87a
|
UTSW |
2 |
120,234,427 (GRCm39) |
missense |
probably benign |
0.00 |
R5884:Tmem87a
|
UTSW |
2 |
120,234,605 (GRCm39) |
unclassified |
probably benign |
|
R6104:Tmem87a
|
UTSW |
2 |
120,224,905 (GRCm39) |
missense |
probably benign |
0.01 |
R6158:Tmem87a
|
UTSW |
2 |
120,190,584 (GRCm39) |
splice site |
probably null |
|
R6195:Tmem87a
|
UTSW |
2 |
120,222,656 (GRCm39) |
splice site |
probably null |
|
R6233:Tmem87a
|
UTSW |
2 |
120,222,656 (GRCm39) |
splice site |
probably null |
|
R6261:Tmem87a
|
UTSW |
2 |
120,234,502 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6403:Tmem87a
|
UTSW |
2 |
120,211,252 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6405:Tmem87a
|
UTSW |
2 |
120,210,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R6540:Tmem87a
|
UTSW |
2 |
120,234,400 (GRCm39) |
missense |
probably benign |
0.00 |
R6583:Tmem87a
|
UTSW |
2 |
120,205,958 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6995:Tmem87a
|
UTSW |
2 |
120,193,409 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7081:Tmem87a
|
UTSW |
2 |
120,211,264 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7384:Tmem87a
|
UTSW |
2 |
120,202,004 (GRCm39) |
critical splice donor site |
probably null |
|
R7558:Tmem87a
|
UTSW |
2 |
120,204,991 (GRCm39) |
missense |
probably benign |
0.00 |
R7904:Tmem87a
|
UTSW |
2 |
120,210,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R8124:Tmem87a
|
UTSW |
2 |
120,222,676 (GRCm39) |
missense |
probably benign |
|
R8165:Tmem87a
|
UTSW |
2 |
120,200,959 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8259:Tmem87a
|
UTSW |
2 |
120,227,928 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8315:Tmem87a
|
UTSW |
2 |
120,234,441 (GRCm39) |
missense |
probably damaging |
0.99 |
R8971:Tmem87a
|
UTSW |
2 |
120,190,541 (GRCm39) |
missense |
|
|
R9124:Tmem87a
|
UTSW |
2 |
120,224,841 (GRCm39) |
critical splice donor site |
probably null |
|
R9157:Tmem87a
|
UTSW |
2 |
120,210,093 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9188:Tmem87a
|
UTSW |
2 |
120,233,244 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |