Incidental Mutation 'R6104:Tmem87a'
| ID |
485410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem87a
|
| Ensembl Gene |
ENSMUSG00000033808 |
| Gene Name |
transmembrane protein 87A |
| Synonyms |
A930025J12Rik |
| MMRRC Submission |
044254-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.266)
|
| Stock # |
R6104 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120185793-120234594 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120224905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 119
(S119P)
|
| 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 benign
Transcript: ENSMUST00000090042
AA Change: S119P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: S119P
| 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: S119P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: S119P
| 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: S119P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: S119P
| 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
|
| Meta Mutation Damage Score |
0.0682 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
T |
4: 106,613,094 (GRCm39) |
L327Q |
probably damaging |
Het |
| Atrip |
C |
T |
9: 108,894,632 (GRCm39) |
A432T |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,856,052 (GRCm39) |
T736A |
probably damaging |
Het |
| Cyp1b1 |
T |
A |
17: 80,017,634 (GRCm39) |
Y507F |
probably damaging |
Het |
| Desi2 |
G |
A |
1: 178,077,018 (GRCm39) |
R174H |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,402,860 (GRCm39) |
K1351N |
possibly damaging |
Het |
| Fads2b |
T |
A |
2: 85,338,693 (GRCm39) |
K149* |
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,497,161 (GRCm39) |
I535T |
probably damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
| Grm6 |
T |
A |
11: 50,750,144 (GRCm39) |
I466N |
possibly damaging |
Het |
| Il17a |
A |
G |
1: 20,802,498 (GRCm39) |
Y69C |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,715,474 (GRCm39) |
D938G |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,504,127 (GRCm39) |
D316G |
probably benign |
Het |
| Lrba |
C |
A |
3: 86,261,099 (GRCm39) |
A1485E |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,935,319 (GRCm39) |
T1483I |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,022,157 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
T |
A |
18: 74,833,750 (GRCm39) |
I842N |
probably benign |
Het |
| Nckap5l |
C |
T |
15: 99,321,869 (GRCm39) |
S1092N |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,265,250 (GRCm39) |
S273P |
probably damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,422,955 (GRCm39) |
N83D |
probably damaging |
Het |
| Oas3 |
T |
A |
5: 120,899,758 (GRCm39) |
I709F |
unknown |
Het |
| Or1p1 |
C |
A |
11: 74,180,192 (GRCm39) |
T240N |
probably damaging |
Het |
| Or8i2 |
T |
C |
2: 86,852,057 (GRCm39) |
Y277C |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,787,342 (GRCm39) |
D1310G |
probably benign |
Het |
| Ppfia1 |
A |
G |
7: 144,045,311 (GRCm39) |
S949P |
possibly damaging |
Het |
| Pxylp1 |
A |
C |
9: 96,706,800 (GRCm39) |
F461V |
possibly damaging |
Het |
| Rcn3 |
A |
G |
7: 44,740,947 (GRCm39) |
Y54H |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,843,606 (GRCm39) |
H242R |
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,519,407 (GRCm39) |
D735E |
possibly damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr2 |
G |
A |
13: 11,814,711 (GRCm39) |
T687M |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,624,744 (GRCm39) |
I526T |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,556,781 (GRCm39) |
V211A |
possibly damaging |
Het |
| Syt10 |
A |
T |
15: 89,711,067 (GRCm39) |
H155Q |
probably benign |
Het |
| Taar8b |
A |
T |
10: 23,968,135 (GRCm39) |
S20T |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,486,496 (GRCm39) |
I988F |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,666,084 (GRCm39) |
I202K |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,856,130 (GRCm39) |
S17P |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,578,931 (GRCm39) |
T614A |
probably benign |
Het |
| Vmn2r80 |
A |
C |
10: 78,984,854 (GRCm39) |
N69H |
probably benign |
Het |
| Xylb |
T |
A |
9: 119,193,573 (GRCm39) |
*66R |
probably null |
Het |
| Ylpm1 |
G |
A |
12: 85,076,404 (GRCm39) |
R1043H |
probably benign |
Het |
| Ythdf3 |
G |
A |
3: 16,259,325 (GRCm39) |
V491I |
possibly 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 |
|
R5884:Tmem87a
|
UTSW |
2 |
120,234,605 (GRCm39) |
unclassified |
probably benign |
|
|
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'- TCTCTTCTAGAAGACAGAACTAGCAG -3'
(R):5'- TGAGCAAAGACGATAATTCTGTGG -3'
Sequencing Primer
(F):5'- GAACTAGCAGACAAACAATGGAC -3'
(R):5'- TGCACTAGGATTGCAAGGACTCC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation