Incidental Mutation 'R1599:Tmem87a'
ID |
176005 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem87a
|
Ensembl Gene |
ENSMUSG00000033808 |
Gene Name |
transmembrane protein 87A |
Synonyms |
A930025J12Rik |
MMRRC Submission |
039636-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.266)
|
Stock # |
R1599 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120185793-120234594 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120224868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 131
(N131S)
|
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 damaging
Transcript: ENSMUST00000090042
AA Change: N131S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087496 Gene: ENSMUSG00000033808 AA Change: N131S
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 |
possibly damaging
Transcript: ENSMUST00000090046
AA Change: N131S
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000087500 Gene: ENSMUSG00000033808 AA Change: N131S
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: N131S
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000106357 Gene: ENSMUSG00000033808 AA Change: N131S
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 |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,197,033 (GRCm39) |
E202G |
probably damaging |
Het |
Adam23 |
A |
G |
1: 63,610,092 (GRCm39) |
D698G |
possibly damaging |
Het |
Adam3 |
T |
C |
8: 25,215,377 (GRCm39) |
D20G |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,071,797 (GRCm39) |
S114P |
probably damaging |
Het |
Adgrg6 |
T |
A |
10: 14,343,057 (GRCm39) |
R297* |
probably null |
Het |
Ahdc1 |
A |
T |
4: 132,792,247 (GRCm39) |
S1163C |
possibly damaging |
Het |
Axl |
A |
G |
7: 25,463,394 (GRCm39) |
Y619H |
probably damaging |
Het |
Bcl11a |
G |
T |
11: 24,113,887 (GRCm39) |
C410F |
probably damaging |
Het |
Brca2 |
C |
A |
5: 150,472,178 (GRCm39) |
S2359* |
probably null |
Het |
Calca |
A |
G |
7: 114,233,707 (GRCm39) |
S75P |
probably damaging |
Het |
Ccn2 |
A |
T |
10: 24,473,297 (GRCm39) |
R279W |
probably benign |
Het |
Ccpg1 |
T |
A |
9: 72,906,407 (GRCm39) |
Y54* |
probably null |
Het |
Cfap161 |
A |
T |
7: 83,425,287 (GRCm39) |
M268K |
possibly damaging |
Het |
Cfap61 |
T |
A |
2: 145,854,083 (GRCm39) |
V365E |
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,548,709 (GRCm39) |
I1000V |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,122,799 (GRCm39) |
D978E |
probably benign |
Het |
Cyth1 |
G |
A |
11: 118,068,047 (GRCm39) |
T297M |
probably damaging |
Het |
Dennd1b |
T |
G |
1: 139,095,468 (GRCm39) |
D505E |
probably benign |
Het |
Dgkd |
A |
G |
1: 87,809,608 (GRCm39) |
T99A |
possibly damaging |
Het |
Fam161a |
A |
T |
11: 22,971,093 (GRCm39) |
M180L |
probably benign |
Het |
Gar1 |
G |
T |
3: 129,624,253 (GRCm39) |
R80S |
probably benign |
Het |
Gm28042 |
T |
C |
2: 119,866,944 (GRCm39) |
S419P |
probably benign |
Het |
Gm5591 |
A |
C |
7: 38,219,794 (GRCm39) |
C360G |
probably benign |
Het |
Golga2 |
A |
G |
2: 32,193,185 (GRCm39) |
H427R |
probably benign |
Het |
Gpt2 |
A |
G |
8: 86,238,863 (GRCm39) |
Y232C |
probably damaging |
Het |
Hnrnpll |
T |
A |
17: 80,361,054 (GRCm39) |
H118L |
unknown |
Het |
Ice2 |
T |
A |
9: 69,318,724 (GRCm39) |
C303S |
probably null |
Het |
Ikzf3 |
C |
A |
11: 98,357,919 (GRCm39) |
G473C |
probably damaging |
Het |
Kansl3 |
A |
T |
1: 36,406,951 (GRCm39) |
D38E |
probably damaging |
Het |
Kcna6 |
A |
T |
6: 126,716,282 (GRCm39) |
D202E |
probably benign |
Het |
Klhl21 |
G |
A |
4: 152,096,757 (GRCm39) |
G341D |
probably damaging |
Het |
Klhl29 |
A |
T |
12: 5,143,538 (GRCm39) |
V497D |
probably damaging |
Het |
Kmt2b |
G |
A |
7: 30,270,000 (GRCm39) |
L2449F |
probably damaging |
Het |
Kmt5c |
A |
G |
7: 4,744,899 (GRCm39) |
E10G |
probably damaging |
Het |
Lama3 |
C |
T |
18: 12,583,457 (GRCm39) |
Q682* |
probably null |
Het |
Lamb3 |
T |
C |
1: 193,002,801 (GRCm39) |
V82A |
probably damaging |
Het |
Larp4b |
C |
T |
13: 9,172,186 (GRCm39) |
T2I |
probably damaging |
Het |
Man2a1 |
T |
C |
17: 64,986,826 (GRCm39) |
Y613H |
possibly damaging |
Het |
Mcm3 |
G |
A |
1: 20,890,422 (GRCm39) |
T4I |
probably benign |
Het |
Mki67 |
C |
T |
7: 135,301,663 (GRCm39) |
A1124T |
probably benign |
Het |
Mlh3 |
A |
T |
12: 85,315,143 (GRCm39) |
L348I |
probably damaging |
Het |
Mmrn1 |
G |
A |
6: 60,922,021 (GRCm39) |
M159I |
probably benign |
Het |
Muc5ac |
A |
T |
7: 141,352,640 (GRCm39) |
Q709L |
possibly damaging |
Het |
Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
Nosip |
A |
G |
7: 44,723,430 (GRCm39) |
N32S |
probably benign |
Het |
Npat |
T |
C |
9: 53,473,704 (GRCm39) |
Y499H |
possibly damaging |
Het |
Nt5c1b |
T |
A |
12: 10,440,024 (GRCm39) |
I522N |
probably damaging |
Het |
Or1j18 |
G |
T |
2: 36,625,001 (GRCm39) |
V223F |
probably benign |
Het |
Or2r3 |
T |
A |
6: 42,448,176 (GRCm39) |
K312M |
probably damaging |
Het |
Or52d3 |
A |
G |
7: 104,228,855 (GRCm39) |
M1V |
probably null |
Het |
Or7g32 |
T |
A |
9: 19,389,517 (GRCm39) |
T7S |
probably damaging |
Het |
Pappa2 |
A |
G |
1: 158,684,742 (GRCm39) |
F799S |
probably damaging |
Het |
Pate5 |
T |
C |
9: 35,750,333 (GRCm39) |
N113S |
probably benign |
Het |
Pcdha1 |
C |
T |
18: 37,318,290 (GRCm39) |
T941M |
probably damaging |
Het |
Pilrb2 |
A |
T |
5: 137,866,859 (GRCm39) |
F215I |
possibly damaging |
Het |
Pkd1l3 |
G |
T |
8: 110,363,016 (GRCm39) |
M1092I |
probably benign |
Het |
Ppp1r21 |
G |
T |
17: 88,880,055 (GRCm39) |
V491L |
probably benign |
Het |
Prickle2 |
T |
C |
6: 92,387,855 (GRCm39) |
T516A |
probably benign |
Het |
Prr27 |
G |
T |
5: 87,991,084 (GRCm39) |
R232L |
probably benign |
Het |
Rab3gap2 |
C |
T |
1: 184,983,223 (GRCm39) |
T454I |
probably benign |
Het |
Rgs11 |
C |
A |
17: 26,427,223 (GRCm39) |
H385N |
probably damaging |
Het |
S1pr5 |
T |
A |
9: 21,155,230 (GRCm39) |
T399S |
probably benign |
Het |
Sacs |
G |
A |
14: 61,441,087 (GRCm39) |
M1044I |
probably benign |
Het |
Sec31b |
T |
A |
19: 44,511,592 (GRCm39) |
Q603L |
possibly damaging |
Het |
Setx |
G |
A |
2: 29,030,385 (GRCm39) |
E275K |
probably benign |
Het |
Sh3tc1 |
G |
A |
5: 35,864,856 (GRCm39) |
P444S |
probably benign |
Het |
Shoc1 |
A |
T |
4: 59,072,349 (GRCm39) |
N622K |
possibly damaging |
Het |
Strn3 |
T |
A |
12: 51,699,549 (GRCm39) |
N208Y |
possibly damaging |
Het |
Tmprss13 |
T |
A |
9: 45,249,616 (GRCm39) |
W318R |
probably damaging |
Het |
Trabd2b |
T |
C |
4: 114,266,178 (GRCm39) |
V64A |
probably damaging |
Het |
Trafd1 |
A |
T |
5: 121,517,720 (GRCm39) |
N24K |
probably damaging |
Het |
Ttc41 |
T |
C |
10: 86,612,437 (GRCm39) |
S1237P |
probably benign |
Het |
Ttll1 |
A |
G |
15: 83,381,555 (GRCm39) |
V238A |
probably benign |
Het |
Vps50 |
T |
C |
6: 3,565,537 (GRCm39) |
S492P |
probably benign |
Het |
Zic1 |
T |
C |
9: 91,243,741 (GRCm39) |
I409V |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGGAAAGAAAGTGCAGCTTCCTTCA -3'
(R):5'- TGTGAGCAAAGACGATAATTCTGTGGT -3'
Sequencing Primer
(F):5'- GCAGCTTCCTTCATAGTATTGAG -3'
(R):5'- gactcctctccgcaccc -3'
|
Posted On |
2014-04-24 |