Incidental Mutation 'R5618:Tmem87a'
ID |
439618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem87a
|
Ensembl Gene |
ENSMUSG00000033808 |
Gene Name |
transmembrane protein 87A |
Synonyms |
A930025J12Rik |
MMRRC Submission |
043277-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.266)
|
Stock # |
R5618 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120185793-120234594 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 120199787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 452
(L452F)
|
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 benign
Transcript: ENSMUST00000090042
AA Change: L451F
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000087496 Gene: ENSMUSG00000033808 AA Change: L451F
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: L452F
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000087500 Gene: ENSMUSG00000033808 AA Change: L452F
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: L452F
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000106357 Gene: ENSMUSG00000033808 AA Change: L452F
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
G |
A |
5: 107,696,065 (GRCm39) |
W167* |
probably null |
Het |
Acvr1 |
C |
T |
2: 58,352,955 (GRCm39) |
R335Q |
probably damaging |
Het |
Atg7 |
A |
G |
6: 114,650,660 (GRCm39) |
D67G |
probably damaging |
Het |
Avil |
T |
C |
10: 126,846,446 (GRCm39) |
F417S |
possibly damaging |
Het |
AW551984 |
A |
T |
9: 39,502,000 (GRCm39) |
L702Q |
probably damaging |
Het |
Bcl7a |
A |
T |
5: 123,499,265 (GRCm39) |
N95Y |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,973,031 (GRCm39) |
D454G |
possibly damaging |
Het |
Cc2d2a |
A |
T |
5: 43,887,249 (GRCm39) |
Q1226H |
probably benign |
Het |
Cct5 |
A |
G |
15: 31,598,161 (GRCm39) |
S13P |
possibly damaging |
Het |
Clca3a1 |
C |
T |
3: 144,710,738 (GRCm39) |
E822K |
probably benign |
Het |
Csgalnact2 |
A |
T |
6: 118,103,277 (GRCm39) |
D228E |
probably damaging |
Het |
Defb12 |
A |
T |
8: 19,164,814 (GRCm39) |
M8K |
possibly damaging |
Het |
Dipk1b |
T |
C |
2: 26,524,887 (GRCm39) |
S96P |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,083,806 (GRCm39) |
D736G |
probably benign |
Het |
Exog |
G |
T |
9: 119,291,817 (GRCm39) |
D365Y |
probably damaging |
Het |
Fam222b |
T |
G |
11: 78,045,066 (GRCm39) |
V81G |
probably benign |
Het |
Fbl |
A |
G |
7: 27,878,411 (GRCm39) |
E301G |
probably damaging |
Het |
Fez1 |
A |
T |
9: 36,755,228 (GRCm39) |
N76Y |
probably damaging |
Het |
Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
H2-Q4 |
T |
A |
17: 35,598,901 (GRCm39) |
F57Y |
probably damaging |
Het |
Ift88 |
T |
C |
14: 57,718,965 (GRCm39) |
I650T |
possibly damaging |
Het |
Kif1b |
A |
T |
4: 149,354,346 (GRCm39) |
D231E |
possibly damaging |
Het |
Lig4 |
A |
T |
8: 10,022,021 (GRCm39) |
D586E |
probably benign |
Het |
Mlc1 |
C |
A |
15: 88,858,769 (GRCm39) |
L126F |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,754,253 (GRCm38) |
T1376A |
probably benign |
Het |
Ncoa6 |
A |
T |
2: 155,279,817 (GRCm39) |
D66E |
possibly damaging |
Het |
Or6ae1 |
A |
G |
7: 139,742,185 (GRCm39) |
V226A |
probably damaging |
Het |
Or8b44 |
C |
T |
9: 38,410,036 (GRCm39) |
Q24* |
probably null |
Het |
Pard6a |
T |
C |
8: 106,429,546 (GRCm39) |
V168A |
probably damaging |
Het |
Pmpcb |
A |
G |
5: 21,947,786 (GRCm39) |
N163S |
possibly damaging |
Het |
Pramel27 |
A |
T |
4: 143,577,263 (GRCm39) |
E15V |
possibly damaging |
Het |
Prdm2 |
C |
T |
4: 142,860,107 (GRCm39) |
C1061Y |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,627,476 (GRCm39) |
Y3378C |
probably damaging |
Het |
Sema6a |
A |
T |
18: 47,415,015 (GRCm39) |
V425E |
probably damaging |
Het |
Sema7a |
A |
T |
9: 57,867,566 (GRCm39) |
E439D |
possibly damaging |
Het |
Serpinf1 |
T |
A |
11: 75,301,010 (GRCm39) |
T402S |
possibly damaging |
Het |
Sf3a2 |
T |
C |
10: 80,640,410 (GRCm39) |
|
probably benign |
Het |
Skic3 |
T |
A |
13: 76,321,545 (GRCm39) |
S1346T |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,762,722 (GRCm39) |
D172E |
probably damaging |
Het |
Spag5 |
T |
G |
11: 78,194,906 (GRCm39) |
I71S |
probably benign |
Het |
Spata31d1d |
G |
A |
13: 59,874,214 (GRCm39) |
A1107V |
probably benign |
Het |
Svep1 |
A |
C |
4: 58,070,537 (GRCm39) |
S2416R |
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,969,221 (GRCm39) |
Y503C |
probably damaging |
Het |
Tlr9 |
A |
T |
9: 106,101,938 (GRCm39) |
I410F |
possibly damaging |
Het |
Tmprss11d |
A |
T |
5: 86,454,154 (GRCm39) |
M217K |
probably benign |
Het |
Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
Vmn2r80 |
T |
C |
10: 78,984,755 (GRCm39) |
Y36H |
probably benign |
Het |
Vmn2r87 |
A |
T |
10: 130,315,817 (GRCm39) |
F83Y |
probably damaging |
Het |
Vmp1 |
C |
T |
11: 86,554,388 (GRCm39) |
R75H |
probably benign |
Het |
Wapl |
T |
A |
14: 34,413,863 (GRCm39) |
Y242N |
possibly damaging |
Het |
Zfp473 |
T |
A |
7: 44,391,156 (GRCm39) |
D6V |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGTGTGTCTACCCATCTCCAC -3'
(R):5'- ACCTTTGCTCTAGCCACAGTAAG -3'
Sequencing Primer
(F):5'- TCTCCACTATGCAACACAGTCCTG -3'
(R):5'- TGCTCTAGCCACAGTAAGTATGAC -3'
|
Posted On |
2016-11-08 |