Incidental Mutation 'R6405:Tmem87a'
ID |
516242 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem87a
|
Ensembl Gene |
ENSMUSG00000033808 |
Gene Name |
transmembrane protein 87A |
Synonyms |
A930025J12Rik |
MMRRC Submission |
044550-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.266)
|
Stock # |
R6405 (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 120210231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 241
(Y241H)
|
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 damaging
Transcript: ENSMUST00000090042
AA Change: Y241H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000087496 Gene: ENSMUSG00000033808 AA Change: Y241H
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 damaging
Transcript: ENSMUST00000090046
AA Change: Y241H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000087500 Gene: ENSMUSG00000033808 AA Change: Y241H
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 damaging
Transcript: ENSMUST00000110729
AA Change: Y241H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106357 Gene: ENSMUSG00000033808 AA Change: Y241H
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,669,742 (GRCm39) |
V769A |
probably damaging |
Het |
Abca4 |
A |
G |
3: 121,967,311 (GRCm39) |
|
probably null |
Het |
Ahnak2 |
A |
T |
12: 112,739,771 (GRCm39) |
S628T |
probably damaging |
Het |
Ano8 |
T |
C |
8: 71,935,674 (GRCm39) |
T315A |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,159,784 (GRCm39) |
V267E |
probably benign |
Het |
Asnsd1 |
A |
T |
1: 53,387,154 (GRCm39) |
S158T |
probably damaging |
Het |
Asxl2 |
T |
A |
12: 3,543,758 (GRCm39) |
V309E |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Ccdc110 |
T |
A |
8: 46,394,734 (GRCm39) |
Y208* |
probably null |
Het |
Cfap157 |
G |
T |
2: 32,671,408 (GRCm39) |
Q133K |
probably damaging |
Het |
Cfap53 |
A |
G |
18: 74,492,677 (GRCm39) |
E467G |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,683,767 (GRCm39) |
I1688M |
probably damaging |
Het |
Cyp3a11 |
A |
T |
5: 145,799,230 (GRCm39) |
L319Q |
probably damaging |
Het |
Dchs2 |
A |
G |
3: 83,261,570 (GRCm39) |
I2613V |
probably benign |
Het |
Dhx35 |
T |
A |
2: 158,636,839 (GRCm39) |
W11R |
probably damaging |
Het |
Dscam |
C |
T |
16: 96,479,625 (GRCm39) |
G1174D |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Greb1l |
T |
A |
18: 10,501,076 (GRCm39) |
I402K |
probably benign |
Het |
Hectd3 |
A |
T |
4: 116,857,821 (GRCm39) |
M585L |
probably benign |
Het |
Inpp5k |
T |
C |
11: 75,524,004 (GRCm39) |
|
probably null |
Het |
Lalba |
T |
G |
15: 98,378,632 (GRCm39) |
|
probably null |
Het |
Lgals9 |
C |
A |
11: 78,862,211 (GRCm39) |
V125L |
probably benign |
Het |
Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
Or2g25 |
A |
G |
17: 37,971,014 (GRCm39) |
I70T |
possibly damaging |
Het |
Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Rab4b |
T |
A |
7: 26,872,379 (GRCm39) |
D94V |
probably damaging |
Het |
Rhpn2 |
A |
G |
7: 35,071,864 (GRCm39) |
E243G |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,415,994 (GRCm39) |
D1706G |
probably damaging |
Het |
Slc29a3 |
A |
T |
10: 60,551,805 (GRCm39) |
I413N |
probably damaging |
Het |
Slc7a9 |
T |
C |
7: 35,154,064 (GRCm39) |
L229P |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 36,755,686 (GRCm39) |
H104R |
probably benign |
Het |
Trpv5 |
G |
T |
6: 41,651,602 (GRCm39) |
T192K |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,134,595 (GRCm39) |
V2189A |
probably damaging |
Het |
Vmn2r106 |
A |
C |
17: 20,499,361 (GRCm39) |
S183R |
probably benign |
Het |
Vmn2r112 |
G |
T |
17: 22,837,216 (GRCm39) |
C559F |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,481,324 (GRCm39) |
D1031G |
possibly damaging |
Het |
Wnt5b |
T |
C |
6: 119,410,457 (GRCm39) |
S328G |
probably benign |
Het |
Zcchc7 |
T |
C |
4: 44,926,032 (GRCm39) |
Y344H |
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 |
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 |
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'- GGCACCTTTTAAAACATACCAGATTC -3'
(R):5'- GACAGTTATTTCTGTAGTCTGCCTC -3'
Sequencing Primer
(F):5'- ACATACCAGATTCTCCTTTGTATCGG -3'
(R):5'- GTAGTCTGCCTCTAGTCTACATC -3'
|
Posted On |
2018-05-04 |