Incidental Mutation 'R5138:Tmem87a'
ID |
396261 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem87a
|
Ensembl Gene |
ENSMUSG00000033808 |
Gene Name |
transmembrane protein 87A |
Synonyms |
A930025J12Rik |
MMRRC Submission |
042724-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.266)
|
Stock # |
R5138 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120185793-120234594 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120202026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 412
(T412A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106357
(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: T411A
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000087496 Gene: ENSMUSG00000033808 AA Change: T411A
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: T412A
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000087500 Gene: ENSMUSG00000033808 AA Change: T412A
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 |
possibly damaging
Transcript: ENSMUST00000110729
AA Change: T412A
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106357 Gene: ENSMUSG00000033808 AA Change: T412A
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 |
0.4018 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
97% (76/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
C |
A |
9: 46,218,119 (GRCm39) |
|
probably null |
Het |
Actr10 |
G |
A |
12: 71,008,653 (GRCm39) |
G362E |
probably damaging |
Het |
Aldh1a3 |
T |
C |
7: 66,057,600 (GRCm39) |
T278A |
probably damaging |
Het |
Arpp21 |
T |
A |
9: 112,008,152 (GRCm39) |
K116M |
probably damaging |
Het |
Arrdc3 |
T |
C |
13: 81,039,184 (GRCm39) |
Y72H |
probably damaging |
Het |
Atr |
T |
C |
9: 95,819,649 (GRCm39) |
V2212A |
probably benign |
Het |
Bcdin3d |
A |
G |
15: 99,368,932 (GRCm39) |
F89S |
possibly damaging |
Het |
Cacna1d |
C |
A |
14: 30,212,929 (GRCm39) |
A44S |
probably benign |
Het |
Cbx3 |
A |
G |
6: 51,452,269 (GRCm39) |
E28G |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,148,061 (GRCm39) |
F2722L |
probably damaging |
Het |
Clec11a |
A |
G |
7: 43,954,062 (GRCm39) |
V297A |
probably benign |
Het |
Clk2 |
C |
A |
3: 89,082,806 (GRCm39) |
|
probably benign |
Het |
Clybl |
T |
A |
14: 122,608,716 (GRCm39) |
C103S |
possibly damaging |
Het |
Col12a1 |
T |
A |
9: 79,551,248 (GRCm39) |
N2123Y |
probably damaging |
Het |
Corin |
G |
A |
5: 72,496,402 (GRCm39) |
P517L |
probably damaging |
Het |
Ddhd2 |
A |
T |
8: 26,217,726 (GRCm39) |
I717N |
probably damaging |
Het |
Derl2 |
C |
A |
11: 70,905,390 (GRCm39) |
G31* |
probably null |
Het |
Dgcr8 |
A |
G |
16: 18,095,941 (GRCm39) |
V523A |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,984,571 (GRCm39) |
S3090P |
probably damaging |
Het |
Dsp |
C |
A |
13: 38,367,274 (GRCm39) |
H641N |
probably benign |
Het |
Dsp |
A |
T |
13: 38,379,821 (GRCm39) |
T1590S |
possibly damaging |
Het |
Duox2 |
A |
T |
2: 122,128,012 (GRCm39) |
L57Q |
probably damaging |
Het |
Etfdh |
A |
T |
3: 79,530,880 (GRCm39) |
V47D |
probably benign |
Het |
Exoc1 |
T |
C |
5: 76,715,922 (GRCm39) |
Y823H |
probably damaging |
Het |
Fam81a |
C |
T |
9: 70,006,457 (GRCm39) |
R185K |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,811,768 (GRCm39) |
I2696V |
probably benign |
Het |
Glis1 |
GCACACA |
GCACA |
4: 107,480,302 (GRCm39) |
|
probably null |
Het |
Gtf3c1 |
A |
T |
7: 125,246,664 (GRCm39) |
N1548K |
probably benign |
Het |
H3c2 |
G |
A |
13: 23,936,613 (GRCm39) |
R84H |
probably damaging |
Het |
Hkdc1 |
A |
T |
10: 62,234,470 (GRCm39) |
I575N |
probably damaging |
Het |
Ifi208 |
A |
G |
1: 173,518,239 (GRCm39) |
I449V |
probably null |
Het |
Ino80 |
T |
C |
2: 119,213,902 (GRCm39) |
T1223A |
probably damaging |
Het |
Kctd9 |
T |
C |
14: 67,966,197 (GRCm39) |
|
probably null |
Het |
Khdrbs1 |
A |
G |
4: 129,635,647 (GRCm39) |
Y103H |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,707,693 (GRCm39) |
H1752R |
probably damaging |
Het |
Lrp5 |
T |
A |
19: 3,678,319 (GRCm39) |
Q512L |
probably benign |
Het |
Map2k5 |
T |
C |
9: 63,170,440 (GRCm39) |
T293A |
probably damaging |
Het |
Myo7a |
C |
A |
7: 97,732,806 (GRCm39) |
R657L |
probably damaging |
Het |
Myrfl |
A |
G |
10: 116,631,963 (GRCm39) |
|
probably null |
Het |
Nfatc2 |
G |
A |
2: 168,378,229 (GRCm39) |
H258Y |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,202,801 (GRCm39) |
L1336Q |
probably damaging |
Het |
Or10z1 |
A |
G |
1: 174,078,395 (GRCm39) |
S33P |
probably damaging |
Het |
Or4c113 |
T |
C |
2: 88,885,291 (GRCm39) |
I160V |
probably benign |
Het |
Or5an10 |
T |
C |
19: 12,276,140 (GRCm39) |
M119V |
possibly damaging |
Het |
Otog |
T |
A |
7: 45,899,430 (GRCm39) |
S244T |
possibly damaging |
Het |
Pcdh17 |
T |
G |
14: 84,684,649 (GRCm39) |
I372S |
probably damaging |
Het |
Pira13 |
A |
T |
7: 3,827,556 (GRCm39) |
Y200* |
probably null |
Het |
Plagl1 |
A |
G |
10: 13,003,919 (GRCm39) |
|
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,931,115 (GRCm39) |
F910S |
possibly damaging |
Het |
Prdm13 |
G |
A |
4: 21,679,507 (GRCm39) |
P328S |
unknown |
Het |
Prdm5 |
C |
T |
6: 65,833,086 (GRCm39) |
Q152* |
probably null |
Het |
Psat1 |
A |
G |
19: 15,892,312 (GRCm39) |
F216S |
possibly damaging |
Het |
Psg21 |
A |
T |
7: 18,390,453 (GRCm39) |
M1K |
probably null |
Het |
Rab11fip3 |
A |
T |
17: 26,210,000 (GRCm39) |
S994T |
probably benign |
Het |
Rax |
A |
G |
18: 66,071,389 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
A |
T |
15: 36,099,934 (GRCm39) |
S260R |
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,675,175 (GRCm39) |
H3317Q |
probably damaging |
Het |
Sc5d |
A |
G |
9: 42,166,811 (GRCm39) |
Y243H |
probably damaging |
Het |
Serpinf1 |
T |
C |
11: 75,305,854 (GRCm39) |
E178G |
probably damaging |
Het |
Slc15a3 |
A |
T |
19: 10,833,369 (GRCm39) |
Y462F |
probably damaging |
Het |
Slc9b1 |
G |
A |
3: 135,063,534 (GRCm39) |
|
probably benign |
Het |
Slit2 |
C |
T |
5: 48,439,309 (GRCm39) |
P1111S |
probably damaging |
Het |
Slit3 |
T |
C |
11: 35,479,812 (GRCm39) |
Y330H |
probably damaging |
Het |
Snw1 |
T |
C |
12: 87,507,205 (GRCm39) |
K204E |
probably benign |
Het |
Steap1 |
A |
G |
5: 5,786,486 (GRCm39) |
I317T |
probably damaging |
Het |
Sval2 |
A |
G |
6: 41,838,879 (GRCm39) |
N20S |
probably damaging |
Het |
Tfrc |
C |
A |
16: 32,434,027 (GRCm39) |
Y85* |
probably null |
Het |
Utp20 |
T |
C |
10: 88,583,239 (GRCm39) |
K2705E |
probably damaging |
Het |
Vmn1r230 |
A |
T |
17: 21,067,230 (GRCm39) |
K140* |
probably null |
Het |
Vmn2r62 |
A |
T |
7: 42,414,240 (GRCm39) |
H734Q |
possibly damaging |
Het |
Zbtb8os |
T |
A |
4: 129,240,719 (GRCm39) |
|
probably benign |
Het |
Zfp608 |
A |
T |
18: 55,024,871 (GRCm39) |
H1466Q |
probably damaging |
Het |
Zfp957 |
C |
T |
14: 79,450,362 (GRCm39) |
C479Y |
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 |
|
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'- GACCGCTCAGGCTAAGAATTTC -3'
(R):5'- GTCTGTAACTTTACAAGTATGCTCC -3'
Sequencing Primer
(F):5'- AACCCAGGTTCAGTTGCTAG -3'
(R):5'- GTATGCTCCTAGATCCTAAACCAGAG -3'
|
Posted On |
2016-06-21 |