Incidental Mutation 'IGL02314:Tmem87a'
| ID |
287953 |
| 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 # |
IGL02314
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120185793-120234594 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120234502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 14
(S14P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090042]
[ENSMUST00000090046]
[ENSMUST00000110729]
[ENSMUST00000135074]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000043755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090042
AA Change: S14P
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: S14P
| 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 |
possibly damaging
Transcript: ENSMUST00000090046
AA Change: S14P
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: S14P
| 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: S14P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: S14P
| 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: ENSMUST00000131523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135074
|
| SMART Domains |
Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
Pfam:Gal_mutarotas_2
|
221 |
292 |
2.3e-21 |
PFAM |
|
Pfam:Glyco_hydro_31
|
333 |
778 |
2.5e-137 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154435
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143409
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg2 |
T |
A |
4: 47,472,143 (GRCm39) |
K94* |
probably null |
Het |
| Axl |
A |
G |
7: 25,486,345 (GRCm39) |
F120L |
possibly damaging |
Het |
| Baz2b |
A |
G |
2: 59,792,571 (GRCm39) |
V519A |
probably benign |
Het |
| Cdk2 |
A |
T |
10: 128,539,595 (GRCm39) |
I99N |
probably damaging |
Het |
| Ces1b |
C |
A |
8: 93,791,524 (GRCm39) |
W358C |
possibly damaging |
Het |
| Cimap1b |
T |
G |
15: 89,262,372 (GRCm39) |
K82N |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,533,903 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
T |
G |
9: 105,874,355 (GRCm39) |
T2211P |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,125,265 (GRCm39) |
E438K |
probably benign |
Het |
| Dpy19l4 |
T |
A |
4: 11,267,720 (GRCm39) |
T407S |
possibly damaging |
Het |
| Dtx3 |
G |
A |
10: 127,026,828 (GRCm39) |
|
probably benign |
Het |
| Eif1ad14 |
T |
A |
12: 87,886,377 (GRCm39) |
Y84F |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,881,134 (GRCm39) |
L3246H |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,779 (GRCm39) |
D224V |
probably damaging |
Het |
| Fndc9 |
A |
T |
11: 46,129,122 (GRCm39) |
I214F |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,117,264 (GRCm39) |
I22N |
probably damaging |
Het |
| Gkn1 |
T |
C |
6: 87,326,103 (GRCm39) |
D29G |
probably benign |
Het |
| Gng11 |
T |
A |
6: 4,004,317 (GRCm39) |
M1K |
probably null |
Het |
| Hdac7 |
T |
C |
15: 97,706,885 (GRCm39) |
D237G |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,777,600 (GRCm39) |
Y199C |
probably damaging |
Het |
| Hgfac |
A |
T |
5: 35,198,941 (GRCm39) |
M1L |
probably benign |
Het |
| Hsd17b6 |
T |
C |
10: 127,833,777 (GRCm39) |
T35A |
probably damaging |
Het |
| Htr3a |
G |
A |
9: 48,815,927 (GRCm39) |
P170L |
probably damaging |
Het |
| Ighv12-3 |
A |
G |
12: 114,330,421 (GRCm39) |
S25P |
probably damaging |
Het |
| Jph2 |
A |
T |
2: 163,239,273 (GRCm39) |
N58K |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,836,275 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,740,638 (GRCm39) |
Y394* |
probably null |
Het |
| Macf1 |
G |
T |
4: 123,338,630 (GRCm39) |
T2248K |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,351,553 (GRCm39) |
|
probably benign |
Het |
| Map4k5 |
G |
A |
12: 69,865,213 (GRCm39) |
P524S |
probably benign |
Het |
| Mcf2l |
C |
T |
8: 13,051,851 (GRCm39) |
S359L |
probably damaging |
Het |
| Mdh1b |
C |
T |
1: 63,750,273 (GRCm39) |
|
probably null |
Het |
| Mfhas1 |
G |
A |
8: 36,055,927 (GRCm39) |
R134H |
probably damaging |
Het |
| Mogs |
A |
G |
6: 83,095,036 (GRCm39) |
T618A |
probably benign |
Het |
| Mybpc2 |
T |
A |
7: 44,171,812 (GRCm39) |
Q39H |
possibly damaging |
Het |
| Myoc |
C |
T |
1: 162,466,917 (GRCm39) |
R29W |
probably damaging |
Het |
| Nae1 |
A |
G |
8: 105,252,938 (GRCm39) |
M162T |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,805,532 (GRCm39) |
I126V |
probably benign |
Het |
| Nxnl2 |
C |
A |
13: 51,325,565 (GRCm39) |
F69L |
probably benign |
Het |
| Oca2 |
T |
A |
7: 56,006,899 (GRCm39) |
I662N |
probably benign |
Het |
| Or52b3 |
A |
T |
7: 102,204,318 (GRCm39) |
I276F |
probably damaging |
Het |
| Or5w8 |
A |
G |
2: 87,688,400 (GRCm39) |
N294D |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,099 (GRCm39) |
S217T |
probably damaging |
Het |
| Or7e176 |
A |
T |
9: 20,171,774 (GRCm39) |
I213L |
probably benign |
Het |
| Pcdhb14 |
G |
A |
18: 37,583,248 (GRCm39) |
E785K |
probably benign |
Het |
| Plb1 |
A |
C |
5: 32,438,492 (GRCm39) |
Y209S |
possibly damaging |
Het |
| Pramel24 |
T |
C |
4: 143,455,012 (GRCm39) |
S437P |
probably benign |
Het |
| Rab44 |
C |
A |
17: 29,358,327 (GRCm39) |
Q172K |
probably benign |
Het |
| Rnf214 |
A |
T |
9: 45,811,105 (GRCm39) |
V186E |
probably benign |
Het |
| Rps6ka1 |
C |
A |
4: 133,578,065 (GRCm39) |
G522W |
probably damaging |
Het |
| Samhd1 |
G |
T |
2: 156,976,948 (GRCm39) |
T21K |
probably damaging |
Het |
| Scly |
A |
G |
1: 91,246,763 (GRCm39) |
Y358C |
probably benign |
Het |
| Sfxn2 |
A |
G |
19: 46,571,026 (GRCm39) |
N29D |
possibly damaging |
Het |
| Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
| Slc44a5 |
G |
A |
3: 153,962,156 (GRCm39) |
S363N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,753,932 (GRCm39) |
|
probably benign |
Het |
| Tas1r3 |
A |
T |
4: 155,945,119 (GRCm39) |
C701S |
probably damaging |
Het |
| Trmt6 |
G |
A |
2: 132,647,378 (GRCm39) |
A486V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,727,091 (GRCm39) |
R1602* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,365,826 (GRCm39) |
M2227V |
probably benign |
Het |
| Vmn2r96 |
A |
T |
17: 18,804,221 (GRCm39) |
Q490H |
probably benign |
Het |
| Wdr19 |
G |
T |
5: 65,414,463 (GRCm39) |
A1279S |
probably benign |
Het |
| Zbtb7c |
G |
A |
18: 76,278,937 (GRCm39) |
R465H |
probably damaging |
Het |
| Zfp473 |
T |
C |
7: 44,383,353 (GRCm39) |
S326G |
probably benign |
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 |
|
IGL01418: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 |
|
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 |
Incidental Mutation