Incidental Mutation 'R0787:Tmem87a'
| ID |
76887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem87a
|
| Ensembl Gene |
ENSMUSG00000033808 |
| Gene Name |
transmembrane protein 87A |
| Synonyms |
A930025J12Rik |
| MMRRC Submission |
038967-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R0787 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120355312-120404113 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120370484 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 425
(I425V)
|
| 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: I424V
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: I424V
| 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: I425V
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: I425V
| 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: I425V
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: I425V
| 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 |
0.0716 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610037L13Rik |
T |
A |
4: 107,890,129 |
L6Q |
probably damaging |
Het |
| 1700001F09Rik |
A |
T |
14: 43,345,493 |
|
probably null |
Het |
| Abca8a |
T |
A |
11: 110,042,988 |
Y1197F |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,798,516 |
|
probably null |
Het |
| Adamts16 |
A |
T |
13: 70,738,829 |
C979S |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 127,085,150 |
D523E |
unknown |
Het |
| Ankfy1 |
T |
A |
11: 72,760,296 |
I1024N |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,994,678 |
S379G |
probably null |
Het |
| Arhgap40 |
T |
C |
2: 158,547,790 |
S625P |
probably benign |
Het |
| Armc12 |
G |
C |
17: 28,538,766 |
A291P |
probably damaging |
Het |
| Armc9 |
A |
G |
1: 86,202,505 |
N524D |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,638,485 |
T2305K |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,047,635 |
N277S |
probably benign |
Het |
| E130311K13Rik |
A |
T |
3: 63,920,298 |
V129E |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,722,668 |
D79G |
possibly damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,494,090 |
E58G |
probably damaging |
Het |
| Fam217b |
T |
A |
2: 178,420,909 |
V222E |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,040,555 |
Y3913N |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,423,901 |
|
probably benign |
Het |
| Hltf |
A |
T |
3: 20,106,446 |
D759V |
probably damaging |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,569,499 |
|
probably benign |
Het |
| Isg15 |
C |
T |
4: 156,199,939 |
R44H |
probably benign |
Het |
| Itga4 |
C |
T |
2: 79,279,153 |
T232I |
probably benign |
Het |
| Kntc1 |
C |
A |
5: 123,796,104 |
H1399Q |
probably benign |
Het |
| Lig1 |
A |
C |
7: 13,299,069 |
K499Q |
probably benign |
Het |
| Lrrn3 |
C |
A |
12: 41,454,231 |
C29F |
probably damaging |
Het |
| Mtmr10 |
T |
C |
7: 64,300,615 |
I136T |
possibly damaging |
Het |
| Naip1 |
A |
G |
13: 100,426,096 |
Y854H |
probably benign |
Het |
| Olfr770 |
T |
C |
10: 129,133,526 |
N81D |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 93,886,757 |
A659V |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,615,630 |
|
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,334,549 |
V83A |
probably damaging |
Het |
| Pik3r1 |
A |
T |
13: 101,690,523 |
M326K |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,717,638 |
L287Q |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,076,177 |
D235G |
possibly damaging |
Het |
| Pkhd1l1 |
C |
A |
15: 44,529,264 |
P1665Q |
probably damaging |
Het |
| Ppp1r7 |
A |
G |
1: 93,364,956 |
T326A |
probably damaging |
Het |
| Prr22 |
A |
T |
17: 56,771,072 |
Y75F |
possibly damaging |
Het |
| Ptov1 |
A |
C |
7: 44,865,470 |
|
probably null |
Het |
| Rasal2 |
A |
G |
1: 157,158,696 |
S766P |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,792,976 |
T337A |
probably benign |
Het |
| St5 |
G |
T |
7: 109,525,620 |
R1068S |
possibly damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,449,209 |
I1168N |
probably damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,946,343 |
V1126A |
probably benign |
Het |
| Tep1 |
A |
T |
14: 50,829,230 |
S2304T |
possibly damaging |
Het |
| Tiam1 |
C |
A |
16: 89,789,561 |
R1446M |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,951,421 |
|
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,381,763 |
|
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,156,847 |
S573P |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 101,957,388 |
V191E |
probably damaging |
Het |
| Zdhhc3 |
A |
T |
9: 123,083,623 |
C153* |
probably null |
Het |
| Zfp407 |
A |
G |
18: 84,209,346 |
V2046A |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,209,022 |
V2154D |
probably damaging |
Het |
| Zfr |
T |
A |
15: 12,140,548 |
I227N |
unknown |
Het |
|
| Other mutations in Tmem87a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00491:Tmem87a
|
APN |
2 |
120,379,780 (GRCm38) |
splice site |
probably benign |
|
|
IGL00912:Tmem87a
|
APN |
2 |
120,403,936 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
IGL01301:Tmem87a
|
APN |
2 |
120,380,769 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01413:Tmem87a
|
APN |
2 |
120,385,870 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01418:Tmem87a
|
APN |
2 |
120,385,870 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02083:Tmem87a
|
APN |
2 |
120,397,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02150:Tmem87a
|
APN |
2 |
120,360,076 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02256:Tmem87a
|
APN |
2 |
120,377,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02314:Tmem87a
|
APN |
2 |
120,404,021 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
IGL02501:Tmem87a
|
APN |
2 |
120,404,053 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02550:Tmem87a
|
APN |
2 |
120,374,485 (GRCm38) |
splice site |
probably null |
|
|
IGL03082:Tmem87a
|
APN |
2 |
120,397,366 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
Fugal
|
UTSW |
2 |
120,360,037 (GRCm38) |
critical splice donor site |
probably null |
|
|
Ingenuity
|
UTSW |
2 |
120,394,360 (GRCm38) |
critical splice donor site |
probably null |
|
|
ANU18:Tmem87a
|
UTSW |
2 |
120,380,769 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0254:Tmem87a
|
UTSW |
2 |
120,375,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0285:Tmem87a
|
UTSW |
2 |
120,394,424 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0498:Tmem87a
|
UTSW |
2 |
120,394,465 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0611:Tmem87a
|
UTSW |
2 |
120,375,448 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R0632:Tmem87a
|
UTSW |
2 |
120,359,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1599:Tmem87a
|
UTSW |
2 |
120,394,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1977:Tmem87a
|
UTSW |
2 |
120,374,504 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2059:Tmem87a
|
UTSW |
2 |
120,369,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2396:Tmem87a
|
UTSW |
2 |
120,404,059 (GRCm38) |
start codon destroyed |
probably null |
0.02 |
|
R2496:Tmem87a
|
UTSW |
2 |
120,394,378 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4478:Tmem87a
|
UTSW |
2 |
120,369,343 (GRCm38) |
nonsense |
probably null |
|
|
R4621:Tmem87a
|
UTSW |
2 |
120,397,424 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4739:Tmem87a
|
UTSW |
2 |
120,360,037 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5138:Tmem87a
|
UTSW |
2 |
120,371,545 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5314:Tmem87a
|
UTSW |
2 |
120,377,926 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5391:Tmem87a
|
UTSW |
2 |
120,362,877 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5536:Tmem87a
|
UTSW |
2 |
120,397,430 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5618:Tmem87a
|
UTSW |
2 |
120,369,306 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5642:Tmem87a
|
UTSW |
2 |
120,403,946 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5884:Tmem87a
|
UTSW |
2 |
120,404,124 (GRCm38) |
unclassified |
probably benign |
|
|
R6104:Tmem87a
|
UTSW |
2 |
120,394,424 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6158:Tmem87a
|
UTSW |
2 |
120,360,103 (GRCm38) |
splice site |
probably null |
|
|
R6195:Tmem87a
|
UTSW |
2 |
120,392,175 (GRCm38) |
splice site |
probably null |
|
|
R6233:Tmem87a
|
UTSW |
2 |
120,392,175 (GRCm38) |
splice site |
probably null |
|
|
R6261:Tmem87a
|
UTSW |
2 |
120,404,021 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R6403:Tmem87a
|
UTSW |
2 |
120,380,771 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6405:Tmem87a
|
UTSW |
2 |
120,379,750 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6540:Tmem87a
|
UTSW |
2 |
120,403,919 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6583:Tmem87a
|
UTSW |
2 |
120,375,477 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6995:Tmem87a
|
UTSW |
2 |
120,362,928 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7081:Tmem87a
|
UTSW |
2 |
120,380,783 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7384:Tmem87a
|
UTSW |
2 |
120,371,523 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7558:Tmem87a
|
UTSW |
2 |
120,374,510 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7904:Tmem87a
|
UTSW |
2 |
120,379,717 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8124:Tmem87a
|
UTSW |
2 |
120,392,195 (GRCm38) |
missense |
probably benign |
|
|
R8165:Tmem87a
|
UTSW |
2 |
120,370,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8259:Tmem87a
|
UTSW |
2 |
120,397,447 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8315:Tmem87a
|
UTSW |
2 |
120,403,960 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8971:Tmem87a
|
UTSW |
2 |
120,360,060 (GRCm38) |
missense |
|
|
|
R9124:Tmem87a
|
UTSW |
2 |
120,394,360 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9157:Tmem87a
|
UTSW |
2 |
120,379,612 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9188:Tmem87a
|
UTSW |
2 |
120,402,763 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAAAAGAGGGCACTGCCTATG -3'
(R):5'- AGGGTTTCTGAAGCAGCCAGATG -3'
Sequencing Primer
(F):5'- tgggggtatggcttagtgg -3'
(R):5'- TTTCTGAAGCAGCCAGATGATAAAG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation