Incidental Mutation 'IGL02150:Tmem87a'
ID |
281953 |
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 # |
IGL02150
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
120185793-120234594 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120190557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 525
(W525R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090042]
[ENSMUST00000090046]
[ENSMUST00000110729]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090042
AA Change: W524R
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000087496 Gene: ENSMUSG00000033808 AA Change: W524R
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: W525R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000087500 Gene: ENSMUSG00000033808 AA Change: W525R
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
|
SMART Domains |
Protein: ENSMUSP00000106357 Gene: ENSMUSG00000033808
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankdd1a |
C |
T |
9: 65,420,001 (GRCm39) |
G92S |
probably damaging |
Het |
Arid1a |
A |
T |
4: 133,414,568 (GRCm39) |
M1221K |
unknown |
Het |
Arl10 |
G |
A |
13: 54,726,662 (GRCm39) |
V147M |
probably damaging |
Het |
Bbs4 |
T |
C |
9: 59,243,651 (GRCm39) |
N152S |
probably benign |
Het |
Cacna2d2 |
T |
G |
9: 107,404,515 (GRCm39) |
|
probably benign |
Het |
Capn9 |
A |
G |
8: 125,340,582 (GRCm39) |
E582G |
probably benign |
Het |
Cct2 |
A |
T |
10: 116,898,004 (GRCm39) |
L61Q |
probably damaging |
Het |
Clip4 |
A |
G |
17: 72,106,071 (GRCm39) |
I85V |
probably damaging |
Het |
Daam2 |
A |
T |
17: 49,797,332 (GRCm39) |
L151Q |
possibly damaging |
Het |
Dlst |
T |
A |
12: 85,177,807 (GRCm39) |
I400N |
possibly damaging |
Het |
Dock7 |
A |
T |
4: 98,968,089 (GRCm39) |
|
probably benign |
Het |
Dynlrb2 |
A |
G |
8: 117,242,449 (GRCm39) |
N93S |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,335,899 (GRCm39) |
T407A |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,077,517 (GRCm39) |
D891G |
possibly damaging |
Het |
Enpp4 |
A |
C |
17: 44,413,049 (GRCm39) |
S162A |
probably benign |
Het |
Epas1 |
A |
G |
17: 87,112,717 (GRCm39) |
D105G |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,846,204 (GRCm39) |
Y965* |
probably null |
Het |
Gcn1 |
T |
A |
5: 115,747,927 (GRCm39) |
I1778N |
probably damaging |
Het |
Gm14496 |
A |
C |
2: 181,633,140 (GRCm39) |
D41A |
probably damaging |
Het |
Gm7008 |
T |
A |
12: 40,273,257 (GRCm39) |
|
probably benign |
Het |
Hcfc2 |
G |
A |
10: 82,545,852 (GRCm39) |
S246N |
probably damaging |
Het |
Hectd1 |
T |
C |
12: 51,815,974 (GRCm39) |
N1366S |
probably damaging |
Het |
Lgmn |
T |
C |
12: 102,361,986 (GRCm39) |
R372G |
possibly damaging |
Het |
Map2k7 |
A |
G |
8: 4,293,818 (GRCm39) |
M153V |
possibly damaging |
Het |
Megf8 |
T |
A |
7: 25,045,842 (GRCm39) |
|
probably null |
Het |
Mgat4c |
A |
C |
10: 102,224,983 (GRCm39) |
E399A |
probably benign |
Het |
Myorg |
A |
G |
4: 41,499,183 (GRCm39) |
V149A |
possibly damaging |
Het |
Nfat5 |
C |
T |
8: 108,094,584 (GRCm39) |
Q942* |
probably null |
Het |
Notch4 |
A |
G |
17: 34,803,587 (GRCm39) |
E1502G |
probably damaging |
Het |
Optn |
A |
C |
2: 5,037,963 (GRCm39) |
I410M |
probably damaging |
Het |
Or6b9 |
G |
T |
7: 106,555,763 (GRCm39) |
P127T |
probably damaging |
Het |
Or8c17 |
A |
T |
9: 38,180,564 (GRCm39) |
I252L |
possibly damaging |
Het |
Ppp1ca |
G |
A |
19: 4,244,698 (GRCm39) |
|
probably benign |
Het |
Pramel5 |
C |
A |
4: 143,999,771 (GRCm39) |
L105F |
possibly damaging |
Het |
Rad54b |
T |
A |
4: 11,610,502 (GRCm39) |
N706K |
probably damaging |
Het |
Rgs11 |
A |
T |
17: 26,421,968 (GRCm39) |
T6S |
probably benign |
Het |
Sbf1 |
T |
C |
15: 89,179,683 (GRCm39) |
H1308R |
probably benign |
Het |
Scart2 |
G |
A |
7: 139,877,772 (GRCm39) |
G918D |
possibly damaging |
Het |
Sec31a |
T |
C |
5: 100,533,984 (GRCm39) |
|
probably benign |
Het |
Sh2d5 |
G |
A |
4: 137,985,553 (GRCm39) |
D334N |
probably benign |
Het |
Skint5 |
T |
A |
4: 113,742,988 (GRCm39) |
I360F |
unknown |
Het |
Slc12a1 |
G |
A |
2: 125,026,735 (GRCm39) |
D457N |
probably damaging |
Het |
Slco2a1 |
C |
T |
9: 102,962,017 (GRCm39) |
A563V |
probably damaging |
Het |
Snrnp35 |
G |
A |
5: 124,628,471 (GRCm39) |
A95T |
probably damaging |
Het |
Snx25 |
C |
A |
8: 46,569,318 (GRCm39) |
R193L |
possibly damaging |
Het |
Stxbp5 |
T |
G |
10: 9,638,565 (GRCm39) |
Q1078P |
probably damaging |
Het |
Tmc2 |
A |
T |
2: 130,082,073 (GRCm39) |
I419F |
probably damaging |
Het |
Trhde |
A |
T |
10: 114,428,013 (GRCm39) |
S428T |
probably damaging |
Het |
Trp73 |
G |
A |
4: 154,165,943 (GRCm39) |
A42V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,679,316 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
T |
2: 76,598,846 (GRCm39) |
V19356M |
probably damaging |
Het |
Vmn1r170 |
T |
A |
7: 23,306,465 (GRCm39) |
L289* |
probably null |
Het |
Vwa5b2 |
A |
T |
16: 20,423,576 (GRCm39) |
Q1163L |
probably benign |
Het |
Washc2 |
T |
A |
6: 116,208,593 (GRCm39) |
|
probably benign |
Het |
Wdr70 |
T |
G |
15: 8,112,030 (GRCm39) |
K71T |
possibly damaging |
Het |
Zbtb41 |
T |
C |
1: 139,368,186 (GRCm39) |
S625P |
possibly damaging |
Het |
Zfp518b |
A |
G |
5: 38,830,686 (GRCm39) |
S440P |
probably damaging |
Het |
Zfp518b |
A |
G |
5: 38,831,132 (GRCm39) |
V291A |
probably damaging |
Het |
Zmym2 |
G |
A |
14: 57,148,526 (GRCm39) |
|
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 |
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 |