Incidental Mutation 'IGL01301:Tmem87a'
ID |
73239 |
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 # |
IGL01301
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
120185793-120234594 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120211250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 232
(I232V)
|
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: I232V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000087496 Gene: ENSMUSG00000033808 AA Change: I232V
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: I232V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000087500 Gene: ENSMUSG00000033808 AA Change: I232V
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: I232V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000106357 Gene: ENSMUSG00000033808 AA Change: I232V
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
C |
T |
17: 15,164,181 (GRCm39) |
|
probably null |
Het |
Acacb |
A |
T |
5: 114,384,559 (GRCm39) |
I2238L |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,358,710 (GRCm39) |
Y95C |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,551,425 (GRCm39) |
T1056A |
probably damaging |
Het |
B4galnt1 |
A |
G |
10: 127,005,648 (GRCm39) |
T250A |
possibly damaging |
Het |
Cela3b |
A |
T |
4: 137,151,154 (GRCm39) |
|
probably null |
Het |
Chst3 |
T |
C |
10: 60,021,654 (GRCm39) |
T398A |
probably damaging |
Het |
Cngb3 |
A |
G |
4: 19,425,625 (GRCm39) |
T478A |
probably damaging |
Het |
Cyp4a10 |
T |
C |
4: 115,375,652 (GRCm39) |
L45P |
probably damaging |
Het |
Defb21 |
A |
G |
2: 152,416,671 (GRCm39) |
E49G |
possibly damaging |
Het |
Dnajc1 |
T |
C |
2: 18,313,645 (GRCm39) |
T159A |
probably damaging |
Het |
Dnmbp |
A |
G |
19: 43,890,793 (GRCm39) |
S325P |
probably benign |
Het |
Fam91a1 |
T |
C |
15: 58,314,720 (GRCm39) |
F534L |
probably damaging |
Het |
Fermt2 |
T |
C |
14: 45,702,320 (GRCm39) |
E488G |
probably damaging |
Het |
Filip1 |
T |
C |
9: 79,726,462 (GRCm39) |
D719G |
possibly damaging |
Het |
Gad1-ps |
A |
G |
10: 99,281,013 (GRCm39) |
|
noncoding transcript |
Het |
Glra3 |
C |
A |
8: 56,393,997 (GRCm39) |
A36E |
probably benign |
Het |
Gm9884 |
T |
A |
1: 25,869,729 (GRCm39) |
|
probably benign |
Het |
Hectd2 |
T |
C |
19: 36,546,770 (GRCm39) |
|
probably benign |
Het |
Hnrnpm |
C |
T |
17: 33,888,142 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
A |
15: 91,651,542 (GRCm39) |
Y1733N |
probably damaging |
Het |
Mindy1 |
T |
C |
3: 95,195,701 (GRCm39) |
L148P |
probably damaging |
Het |
Mkrn2 |
C |
A |
6: 115,588,750 (GRCm39) |
Y164* |
probably null |
Het |
Msra |
T |
C |
14: 64,447,884 (GRCm39) |
Y135C |
probably damaging |
Het |
Ndst3 |
C |
T |
3: 123,342,565 (GRCm39) |
A749T |
probably damaging |
Het |
Ngdn |
G |
T |
14: 55,254,571 (GRCm39) |
A41S |
probably benign |
Het |
Nlrp12 |
A |
T |
7: 3,288,722 (GRCm39) |
S597T |
probably damaging |
Het |
Or5b99 |
A |
T |
19: 12,976,781 (GRCm39) |
I144F |
probably damaging |
Het |
Pabpc6 |
A |
G |
17: 9,886,899 (GRCm39) |
S551P |
probably benign |
Het |
Plekhg5 |
C |
T |
4: 152,197,010 (GRCm39) |
A752V |
probably benign |
Het |
Prpf4b |
T |
C |
13: 35,068,274 (GRCm39) |
S368P |
probably benign |
Het |
Pus7 |
A |
G |
5: 23,951,422 (GRCm39) |
|
probably null |
Het |
Rad23b |
T |
C |
4: 55,366,774 (GRCm39) |
|
probably benign |
Het |
Rgs13 |
T |
C |
1: 144,047,152 (GRCm39) |
|
probably benign |
Het |
Sfpq |
T |
C |
4: 126,920,553 (GRCm39) |
|
probably benign |
Het |
Slc9a9 |
T |
A |
9: 94,937,512 (GRCm39) |
S455T |
probably benign |
Het |
Slco1a1 |
A |
G |
6: 141,878,256 (GRCm39) |
|
probably benign |
Het |
Tmem26 |
A |
T |
10: 68,614,436 (GRCm39) |
N284Y |
probably damaging |
Het |
Trpm2 |
A |
G |
10: 77,759,818 (GRCm39) |
L1106P |
probably damaging |
Het |
Vmn1r18 |
T |
C |
6: 57,366,652 (GRCm39) |
|
probably benign |
Het |
Zfp213 |
G |
T |
17: 23,780,391 (GRCm39) |
A43D |
probably benign |
Het |
Zfp365 |
A |
G |
10: 67,745,184 (GRCm39) |
V198A |
probably damaging |
Het |
Zfp395 |
T |
A |
14: 65,632,200 (GRCm39) |
|
probably null |
Het |
Zfp618 |
G |
A |
4: 63,051,063 (GRCm39) |
V615M |
probably 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 |
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 |
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 |
2013-10-07 |