Incidental Mutation 'IGL02083:Tmem87a'
ID |
283431 |
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 # |
IGL02083
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
120185793-120234594 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120227861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 95
(N95K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087496
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090042]
[ENSMUST00000090046]
[ENSMUST00000110729]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090042
AA Change: N95K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000087496 Gene: ENSMUSG00000033808 AA Change: N95K
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: N95K
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000087500 Gene: ENSMUSG00000033808 AA Change: N95K
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: N95K
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000106357 Gene: ENSMUSG00000033808 AA Change: N95K
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
A |
C |
11: 69,780,336 (GRCm39) |
L36V |
possibly damaging |
Het |
Aoc1l1 |
G |
A |
6: 48,953,194 (GRCm39) |
G373D |
probably damaging |
Het |
Atp13a3 |
T |
C |
16: 30,166,524 (GRCm39) |
T540A |
possibly damaging |
Het |
Bend5 |
A |
C |
4: 111,316,964 (GRCm39) |
I376L |
probably benign |
Het |
Ccdc138 |
T |
C |
10: 58,380,736 (GRCm39) |
|
probably benign |
Het |
Cdh10 |
T |
A |
15: 18,986,975 (GRCm39) |
I402N |
possibly damaging |
Het |
Cfap44 |
T |
C |
16: 44,257,525 (GRCm39) |
V1020A |
probably damaging |
Het |
Chd2 |
A |
T |
7: 73,130,816 (GRCm39) |
S749T |
possibly damaging |
Het |
Enpp3 |
T |
A |
10: 24,652,692 (GRCm39) |
D755V |
probably damaging |
Het |
Fmo6 |
T |
A |
1: 162,748,033 (GRCm39) |
K344* |
probably null |
Het |
Gabbr1 |
A |
G |
17: 37,380,957 (GRCm39) |
T767A |
possibly damaging |
Het |
Gjd3 |
A |
G |
11: 98,873,587 (GRCm39) |
S86P |
probably damaging |
Het |
Grin1 |
A |
G |
2: 25,188,513 (GRCm39) |
V432A |
possibly damaging |
Het |
Igf2r |
A |
T |
17: 12,912,079 (GRCm39) |
C1849* |
probably null |
Het |
Jcad |
G |
T |
18: 4,680,266 (GRCm39) |
|
probably benign |
Het |
Mrgpra4 |
A |
T |
7: 47,630,808 (GRCm39) |
C264* |
probably null |
Het |
Naa80 |
G |
T |
9: 107,460,798 (GRCm39) |
R231L |
probably benign |
Het |
Napepld |
T |
C |
5: 21,881,065 (GRCm39) |
Y110C |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 26,963,117 (GRCm39) |
E474G |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,271,451 (GRCm39) |
D3034V |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,758,587 (GRCm39) |
T370A |
possibly damaging |
Het |
Ptger4 |
C |
T |
15: 5,272,655 (GRCm39) |
R13H |
probably benign |
Het |
Scg2 |
T |
A |
1: 79,413,941 (GRCm39) |
T261S |
probably benign |
Het |
Sfswap |
T |
C |
5: 129,616,855 (GRCm39) |
V433A |
probably benign |
Het |
Sipa1l3 |
A |
G |
7: 29,086,686 (GRCm39) |
Y635H |
probably damaging |
Het |
Sp5 |
C |
A |
2: 70,306,758 (GRCm39) |
P148T |
possibly damaging |
Het |
Tlr5 |
A |
G |
1: 182,801,449 (GRCm39) |
N251S |
possibly damaging |
Het |
Unc45b |
C |
T |
11: 82,813,745 (GRCm39) |
T384M |
probably damaging |
Het |
Unc5c |
T |
C |
3: 141,420,408 (GRCm39) |
L117P |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,873,684 (GRCm39) |
N57D |
probably damaging |
Het |
Zcchc8 |
G |
T |
5: 123,838,981 (GRCm39) |
T519K |
probably damaging |
Het |
Zfp729b |
G |
A |
13: 67,743,349 (GRCm39) |
T72I |
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 |
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 |