Incidental Mutation 'R6158:Tmem87a'
ID |
501885 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem87a
|
Ensembl Gene |
ENSMUSG00000033808 |
Gene Name |
transmembrane protein 87A |
Synonyms |
A930025J12Rik |
MMRRC Submission |
044305-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.266)
|
Stock # |
R6158 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120185793-120234594 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 120190584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090042]
[ENSMUST00000090046]
[ENSMUST00000110729]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000090042
|
SMART Domains |
Protein: ENSMUSP00000087496 Gene: ENSMUSG00000033808
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 null
Transcript: ENSMUST00000090046
|
SMART Domains |
Protein: ENSMUSP00000087500 Gene: ENSMUSG00000033808
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.5%
- 20x: 92.6%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,217,410 (GRCm39) |
V793A |
possibly damaging |
Het |
2900092C05Rik |
A |
G |
7: 12,246,599 (GRCm39) |
T32A |
probably benign |
Het |
Adprhl1 |
C |
T |
8: 13,274,977 (GRCm39) |
V594M |
possibly damaging |
Het |
Ano3 |
A |
T |
2: 110,496,220 (GRCm39) |
Y845N |
probably damaging |
Het |
Arhgap24 |
A |
T |
5: 103,040,778 (GRCm39) |
I575L |
probably benign |
Het |
Aurka |
A |
C |
2: 172,205,516 (GRCm39) |
|
probably null |
Het |
C1qtnf5 |
A |
T |
9: 44,020,267 (GRCm39) |
|
probably benign |
Het |
Cacnb2 |
A |
G |
2: 14,990,412 (GRCm39) |
D454G |
possibly damaging |
Het |
Chchd5 |
T |
C |
2: 128,972,437 (GRCm39) |
L87P |
probably damaging |
Het |
Col7a1 |
G |
T |
9: 108,793,671 (GRCm39) |
R1377L |
unknown |
Het |
Cpne8 |
A |
C |
15: 90,456,191 (GRCm39) |
S191A |
probably damaging |
Het |
Dhx30 |
A |
T |
9: 109,916,098 (GRCm39) |
I671N |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,495,642 (GRCm39) |
K1423N |
possibly damaging |
Het |
Dnm3 |
T |
C |
1: 162,148,556 (GRCm39) |
M272V |
probably damaging |
Het |
Fat4 |
A |
T |
3: 39,037,411 (GRCm39) |
S3688C |
possibly damaging |
Het |
Frmpd1 |
A |
T |
4: 45,285,401 (GRCm39) |
L1407F |
probably damaging |
Het |
Fry |
T |
C |
5: 150,378,037 (GRCm39) |
S410P |
probably damaging |
Het |
Gm11565 |
T |
A |
11: 99,805,744 (GRCm39) |
C45* |
probably null |
Het |
Gngt1 |
A |
T |
6: 3,994,311 (GRCm39) |
R30* |
probably null |
Het |
Htt |
T |
C |
5: 35,064,430 (GRCm39) |
I2943T |
possibly damaging |
Het |
Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
Lmo7 |
T |
A |
14: 102,137,573 (GRCm39) |
D247E |
probably benign |
Het |
Mastl |
G |
T |
2: 23,022,784 (GRCm39) |
N646K |
possibly damaging |
Het |
Mei4 |
G |
T |
9: 81,809,629 (GRCm39) |
L237F |
probably damaging |
Het |
Mettl27 |
C |
T |
5: 134,969,430 (GRCm39) |
P170S |
possibly damaging |
Het |
Mgam |
T |
A |
6: 40,734,648 (GRCm39) |
I896K |
probably damaging |
Het |
Mix23 |
T |
A |
16: 35,910,299 (GRCm39) |
V118D |
probably damaging |
Het |
Moxd1 |
T |
A |
10: 24,160,675 (GRCm39) |
C443S |
probably damaging |
Het |
Myo18b |
A |
T |
5: 113,022,038 (GRCm39) |
N451K |
probably benign |
Het |
Myo7b |
T |
C |
18: 32,121,602 (GRCm39) |
I768V |
probably benign |
Het |
Nos1 |
A |
C |
5: 118,005,639 (GRCm39) |
I120L |
probably benign |
Het |
Nsd1 |
T |
C |
13: 55,393,434 (GRCm39) |
V345A |
probably benign |
Het |
Or1j15 |
A |
T |
2: 36,459,128 (GRCm39) |
T173S |
probably benign |
Het |
Or2aj5 |
C |
A |
16: 19,424,675 (GRCm39) |
V248F |
probably damaging |
Het |
Or4c11c |
T |
C |
2: 88,661,490 (GRCm39) |
F10L |
probably damaging |
Het |
Or5t15 |
A |
G |
2: 86,681,859 (GRCm39) |
L61P |
possibly damaging |
Het |
Or8g50 |
C |
T |
9: 39,648,372 (GRCm39) |
T87I |
probably benign |
Het |
Pdzph1 |
T |
G |
17: 59,280,622 (GRCm39) |
Q553H |
probably damaging |
Het |
Piwil1 |
T |
A |
5: 128,824,940 (GRCm39) |
L546* |
probably null |
Het |
Pla2g4f |
T |
C |
2: 120,131,552 (GRCm39) |
T724A |
probably benign |
Het |
Ralgapa2 |
A |
T |
2: 146,266,596 (GRCm39) |
M660K |
possibly damaging |
Het |
Rgsl1 |
T |
C |
1: 153,679,767 (GRCm39) |
D103G |
possibly damaging |
Het |
Rnf186 |
A |
G |
4: 138,694,565 (GRCm39) |
D35G |
probably damaging |
Het |
Rock2 |
A |
G |
12: 17,004,919 (GRCm39) |
D424G |
probably benign |
Het |
Scg2 |
A |
T |
1: 79,413,117 (GRCm39) |
D495E |
probably damaging |
Het |
Slc39a2 |
G |
A |
14: 52,131,681 (GRCm39) |
|
probably null |
Het |
Snrnp48 |
T |
A |
13: 38,394,212 (GRCm39) |
Y100* |
probably null |
Het |
Spaca1 |
A |
G |
4: 34,029,176 (GRCm39) |
M99T |
probably damaging |
Het |
Specc1 |
T |
G |
11: 62,008,950 (GRCm39) |
F235L |
probably damaging |
Het |
St13 |
A |
T |
15: 81,283,802 (GRCm39) |
|
probably null |
Het |
Swap70 |
T |
A |
7: 109,869,230 (GRCm39) |
M341K |
probably damaging |
Het |
Synj2 |
A |
G |
17: 6,036,487 (GRCm39) |
D67G |
probably benign |
Het |
Tmem135 |
T |
A |
7: 88,805,652 (GRCm39) |
I251F |
probably benign |
Het |
Tom1l2 |
C |
T |
11: 60,123,753 (GRCm39) |
D128N |
probably damaging |
Het |
Tpx2 |
C |
A |
2: 152,715,024 (GRCm39) |
H82N |
probably benign |
Het |
Trip12 |
A |
T |
1: 84,738,733 (GRCm39) |
C738S |
possibly damaging |
Het |
Ttyh1 |
A |
G |
7: 4,128,561 (GRCm39) |
T153A |
probably benign |
Het |
Utrn |
C |
T |
10: 12,566,566 (GRCm39) |
G1199S |
probably benign |
Het |
Vmn1r8 |
T |
A |
6: 57,013,274 (GRCm39) |
N108K |
probably benign |
Het |
Vmn2r63 |
T |
A |
7: 42,583,104 (GRCm39) |
D37V |
probably damaging |
Het |
Vwce |
C |
T |
19: 10,621,585 (GRCm39) |
R206C |
possibly damaging |
Het |
Wrn |
G |
T |
8: 33,809,200 (GRCm39) |
F265L |
probably damaging |
Het |
Zfp472 |
T |
A |
17: 33,197,363 (GRCm39) |
C479* |
probably null |
Het |
Zfp831 |
A |
T |
2: 174,485,651 (GRCm39) |
T109S |
possibly damaging |
Het |
Znfx1 |
G |
T |
2: 166,898,646 (GRCm39) |
Q93K |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAAATATCATGCAAGTGAGTAGTCC -3'
(R):5'- GGAGATGTTAGCCAAAGGTATTTG -3'
Sequencing Primer
(F):5'- CCTCAGTTTCCCACTGAAA -3'
(R):5'- GGATAACGAAAGGCTGCTA -3'
|
Posted On |
2017-12-04 |