Incidental Mutation 'IGL02501:Tmem87a'
| ID |
296049 |
| 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 # |
IGL02501
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120185793-120234594 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120234534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 3
(V3E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106357
(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 damaging
Transcript: ENSMUST00000090042
AA Change: V3E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: V3E
| 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 damaging
Transcript: ENSMUST00000090046
AA Change: V3E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: V3E
| 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 damaging
Transcript: ENSMUST00000110729
AA Change: V3E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: V3E
| 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: ENSMUST00000153660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154435
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154404
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
A |
T |
3: 37,137,489 (GRCm39) |
I307F |
probably damaging |
Het |
| Adam15 |
G |
A |
3: 89,247,769 (GRCm39) |
A789V |
possibly damaging |
Het |
| Bspry |
A |
G |
4: 62,414,672 (GRCm39) |
T422A |
probably benign |
Het |
| Btnl6 |
T |
A |
17: 34,734,648 (GRCm39) |
D38V |
possibly damaging |
Het |
| Cd59b |
G |
A |
2: 103,909,273 (GRCm39) |
C18Y |
probably damaging |
Het |
| Clstn1 |
T |
G |
4: 149,716,299 (GRCm39) |
I255R |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,613,999 (GRCm39) |
L99P |
possibly damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Emc1 |
A |
T |
4: 139,098,295 (GRCm39) |
T759S |
probably benign |
Het |
| Fndc1 |
C |
T |
17: 7,984,230 (GRCm39) |
G1232E |
unknown |
Het |
| Gjb3 |
C |
T |
4: 127,220,157 (GRCm39) |
G125D |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,938,693 (GRCm39) |
S594P |
possibly damaging |
Het |
| Hycc2 |
C |
A |
1: 58,579,350 (GRCm39) |
R229L |
probably damaging |
Het |
| Ildr1 |
T |
C |
16: 36,542,712 (GRCm39) |
S371P |
probably damaging |
Het |
| Kif1b |
T |
A |
4: 149,299,433 (GRCm39) |
R946W |
probably damaging |
Het |
| Lrp12 |
T |
C |
15: 39,741,300 (GRCm39) |
T472A |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,886,230 (GRCm39) |
D3031G |
probably benign |
Het |
| Med12l |
A |
T |
3: 59,169,397 (GRCm39) |
T1596S |
possibly damaging |
Het |
| Myom1 |
A |
C |
17: 71,379,076 (GRCm39) |
|
probably null |
Het |
| Nhlrc2 |
T |
A |
19: 56,559,086 (GRCm39) |
Y190* |
probably null |
Het |
| Nol4 |
A |
T |
18: 22,956,398 (GRCm39) |
N115K |
probably damaging |
Het |
| Nrg1 |
T |
A |
8: 32,308,291 (GRCm39) |
|
probably null |
Het |
| Or7g26 |
T |
A |
9: 19,229,999 (GRCm39) |
H56Q |
probably damaging |
Het |
| Oxld1 |
A |
C |
11: 120,347,714 (GRCm39) |
L161R |
probably damaging |
Het |
| Phex |
A |
G |
X: 155,969,271 (GRCm39) |
S568P |
probably damaging |
Het |
| Pkd1 |
T |
G |
17: 24,788,673 (GRCm39) |
S810R |
probably benign |
Het |
| Plin2 |
G |
T |
4: 86,582,723 (GRCm39) |
C84* |
probably null |
Het |
| Ppfia3 |
A |
T |
7: 45,004,362 (GRCm39) |
|
probably benign |
Het |
| Ptpn14 |
A |
G |
1: 189,582,587 (GRCm39) |
N478S |
probably benign |
Het |
| Pygl |
A |
G |
12: 70,237,908 (GRCm39) |
M801T |
probably benign |
Het |
| Recql5 |
A |
G |
11: 115,785,917 (GRCm39) |
Y619H |
probably benign |
Het |
| Scn3a |
C |
A |
2: 65,356,899 (GRCm39) |
D182Y |
possibly damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,016,785 (GRCm39) |
E316G |
possibly damaging |
Het |
| Shroom4 |
A |
G |
X: 6,495,998 (GRCm39) |
E386G |
possibly damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,634,432 (GRCm39) |
S24G |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,277,508 (GRCm39) |
I282V |
probably benign |
Het |
| Slc8b1 |
C |
T |
5: 120,658,918 (GRCm39) |
R148C |
probably damaging |
Het |
| Stag2 |
A |
G |
X: 41,360,202 (GRCm39) |
|
probably benign |
Het |
| Styx |
T |
A |
14: 45,609,922 (GRCm39) |
H195Q |
probably benign |
Het |
| Sufu |
A |
G |
19: 46,439,349 (GRCm39) |
I190V |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,145,341 (GRCm39) |
|
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,801,344 (GRCm39) |
I293T |
probably benign |
Het |
| Timp4 |
T |
A |
6: 115,223,444 (GRCm39) |
I160F |
probably damaging |
Het |
| Utp4 |
T |
A |
8: 107,632,873 (GRCm39) |
H285Q |
probably benign |
Het |
| Vrk1 |
T |
G |
12: 106,028,912 (GRCm39) |
S305A |
probably benign |
Het |
| Zfp329 |
G |
T |
7: 12,545,106 (GRCm39) |
H139Q |
possibly damaging |
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 |
|
IGL02314:Tmem87a
|
APN |
2 |
120,234,502 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
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