Incidental Mutation 'R5884:Tmem87a'
ID |
454552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem87a
|
Ensembl Gene |
ENSMUSG00000033808 |
Gene Name |
transmembrane protein 87A |
Synonyms |
A930025J12Rik |
MMRRC Submission |
044087-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.266)
|
Stock # |
R5884 (G1)
|
Quality Score |
170 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120185793-120234594 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 120234605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116898
(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 benign
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 benign
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: ENSMUST00000131523
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154574
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154435
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154404
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143409
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143182
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151740
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154963
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 95.6%
- 20x: 82.8%
|
Validation Efficiency |
96% (66/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bmp5 |
T |
C |
9: 75,805,836 (GRCm39) |
M446T |
probably damaging |
Het |
Cacna1g |
C |
T |
11: 94,328,693 (GRCm39) |
A1052T |
probably damaging |
Het |
Cand1 |
C |
T |
10: 119,049,670 (GRCm39) |
A359T |
possibly damaging |
Het |
Ccne2 |
A |
T |
4: 11,199,411 (GRCm39) |
T271S |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,461,142 (GRCm39) |
T546A |
probably damaging |
Het |
Ces1g |
A |
G |
8: 94,033,558 (GRCm39) |
S455P |
probably benign |
Het |
Dnah11 |
A |
T |
12: 118,141,269 (GRCm39) |
C496S |
probably benign |
Het |
Dtx3l |
C |
G |
16: 35,752,603 (GRCm39) |
E668Q |
probably benign |
Het |
Dysf |
T |
A |
6: 84,163,063 (GRCm39) |
F1579I |
probably damaging |
Het |
Emx2 |
T |
G |
19: 59,452,461 (GRCm39) |
D248E |
probably damaging |
Het |
Eri2 |
A |
C |
7: 119,371,552 (GRCm39) |
*275E |
probably null |
Het |
F5 |
G |
A |
1: 164,023,215 (GRCm39) |
R1591H |
probably benign |
Het |
Fabp3 |
A |
G |
4: 130,206,131 (GRCm39) |
T41A |
probably benign |
Het |
Fam89a |
C |
T |
8: 125,478,508 (GRCm39) |
R14H |
probably damaging |
Het |
Gbe1 |
T |
A |
16: 70,325,763 (GRCm39) |
|
probably null |
Het |
Golga3 |
A |
G |
5: 110,364,761 (GRCm39) |
E1211G |
probably damaging |
Het |
Gpa33 |
T |
C |
1: 165,980,329 (GRCm39) |
S131P |
probably damaging |
Het |
Hyal6 |
T |
C |
6: 24,743,368 (GRCm39) |
Y355H |
probably damaging |
Het |
Ide |
A |
T |
19: 37,249,552 (GRCm39) |
|
probably null |
Het |
Ighv5-21 |
A |
T |
12: 114,283,806 (GRCm39) |
|
probably benign |
Het |
Iglc1 |
A |
T |
16: 18,880,741 (GRCm39) |
|
probably benign |
Het |
Impa1 |
A |
T |
3: 10,381,284 (GRCm39) |
N199K |
probably damaging |
Het |
Irx5 |
A |
C |
8: 93,087,258 (GRCm39) |
T397P |
possibly damaging |
Het |
Lonp2 |
A |
G |
8: 87,368,254 (GRCm39) |
Y356C |
probably damaging |
Het |
Matn4 |
A |
T |
2: 164,246,528 (GRCm39) |
|
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Nav2 |
T |
A |
7: 49,246,917 (GRCm39) |
Y2147* |
probably null |
Het |
Nek5 |
C |
T |
8: 22,578,817 (GRCm39) |
|
probably null |
Het |
Omt2b |
A |
G |
9: 78,235,839 (GRCm39) |
M55V |
probably benign |
Het |
Or5d37 |
A |
G |
2: 87,924,140 (GRCm39) |
Y47H |
probably damaging |
Het |
Or6z1 |
C |
A |
7: 6,504,842 (GRCm39) |
V128L |
probably benign |
Het |
Or9g8 |
T |
A |
2: 85,607,399 (GRCm39) |
I157K |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,852,207 (GRCm39) |
H796Q |
probably damaging |
Het |
Pex2 |
T |
C |
3: 5,626,359 (GRCm39) |
E150G |
probably benign |
Het |
Poglut2 |
T |
C |
1: 44,156,260 (GRCm39) |
N109S |
probably benign |
Het |
Psmb2 |
T |
A |
4: 126,578,014 (GRCm39) |
V64E |
possibly damaging |
Het |
Psmd6 |
C |
T |
14: 14,116,526 (GRCm38) |
R63H |
probably damaging |
Het |
Ptprd |
A |
G |
4: 75,900,927 (GRCm39) |
Y1061H |
probably damaging |
Het |
Rab23 |
A |
G |
1: 33,763,967 (GRCm39) |
|
probably benign |
Het |
Rad51ap2 |
GAAAAGGAAACTATTTAAAA |
GAAAA |
12: 11,507,534 (GRCm39) |
|
probably benign |
Het |
Reg1 |
C |
T |
6: 78,405,200 (GRCm39) |
S141L |
possibly damaging |
Het |
Rock1 |
A |
T |
18: 10,099,361 (GRCm39) |
I680K |
probably benign |
Het |
Sez6l2 |
A |
G |
7: 126,569,328 (GRCm39) |
|
probably benign |
Het |
Slc34a2 |
A |
T |
5: 53,226,722 (GRCm39) |
Q615L |
possibly damaging |
Het |
Slu7 |
A |
G |
11: 43,334,245 (GRCm39) |
K424E |
probably benign |
Het |
Tctn2 |
A |
T |
5: 124,741,895 (GRCm39) |
|
noncoding transcript |
Het |
Trappc4 |
A |
G |
9: 44,315,385 (GRCm39) |
F198L |
probably damaging |
Het |
Usp33 |
C |
T |
3: 152,073,967 (GRCm39) |
T271I |
probably benign |
Het |
Vmn1r15 |
T |
A |
6: 57,235,993 (GRCm39) |
I287K |
probably damaging |
Het |
Vmn2r75 |
A |
C |
7: 85,814,578 (GRCm39) |
I305R |
probably benign |
Het |
Wdr26 |
T |
C |
1: 181,015,106 (GRCm39) |
|
probably benign |
Het |
Zzz3 |
T |
C |
3: 152,156,295 (GRCm39) |
S684P |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTATCTGCAGCAAACACGGG -3'
(R):5'- ACTGAGTTCCTTTAAGGGCTG -3'
Sequencing Primer
(F):5'- TGCGCCCCTAAAAGAAG -3'
(R):5'- TTCCTTTAAGGGCTGGAAGAAC -3'
|
Posted On |
2017-02-10 |