Incidental Mutation 'R5105:Tmem87b'
| ID |
401969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem87b
|
| Ensembl Gene |
ENSMUSG00000014353 |
| Gene Name |
transmembrane protein 87B |
| Synonyms |
2810431I02Rik, 2610301K12Rik |
| MMRRC Submission |
042693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
128660038-128696181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128673509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 251
(V251A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110325]
[ENSMUST00000152210]
|
| AlphaFold |
Q8BKU8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110325
AA Change: V266A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105954
Gene: ENSMUSG00000014353
AA Change: V266A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
|
Pfam:Lung_7-TM_R
|
174 |
459 |
3.7e-103 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143398
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152210
AA Change: V251A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119093
Gene: ENSMUSG00000014353
AA Change: V251A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Lung_7-TM_R
|
159 |
452 |
1.6e-97 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178354
AA Change: V266A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136169
Gene: ENSMUSG00000014353
AA Change: V266A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
|
Pfam:Lung_7-TM_R
|
174 |
467 |
1.4e-97 |
PFAM |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
96% (52/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may interact with human papillomavirus type 18 E6 oncogene. The protein is also likely to be involved in endosome-to-trans-Golgi network retrograde transport. The gene is expressed in adult and fetal tissues, including brain and heart. This gene is a component of the 2q13 deletion syndrome. Mutations in this gene may be associated with congenital heart defects. [provided by RefSeq, Aug 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btbd8 |
T |
G |
5: 107,658,337 (GRCm39) |
S1124A |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,830,941 (GRCm39) |
S445P |
probably damaging |
Het |
| Ccdc92 |
G |
A |
5: 124,912,858 (GRCm39) |
P224S |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,741,939 (GRCm39) |
V125A |
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,999,612 (GRCm39) |
C2159S |
probably benign |
Het |
| Col1a1 |
G |
T |
11: 94,833,211 (GRCm39) |
R404L |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,725,862 (GRCm39) |
M1382K |
possibly damaging |
Het |
| Cyp4a12b |
T |
C |
4: 115,290,958 (GRCm39) |
S329P |
probably damaging |
Het |
| Dclk1 |
T |
G |
3: 55,163,360 (GRCm39) |
S151A |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,894,864 (GRCm39) |
V202E |
probably benign |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,888,546 (GRCm39) |
E3050G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,584,366 (GRCm39) |
F590I |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 101,992,631 (GRCm39) |
Y63H |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,520,110 (GRCm39) |
E452G |
possibly damaging |
Het |
| Gpx3 |
A |
T |
11: 54,797,980 (GRCm39) |
T39S |
possibly damaging |
Het |
| Grin2b |
T |
A |
6: 135,709,439 (GRCm39) |
Y1369F |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,667,396 (GRCm39) |
N350K |
probably benign |
Het |
| Kdm5d |
A |
G |
Y: 941,752 (GRCm39) |
K1318E |
probably benign |
Het |
| Large1 |
A |
T |
8: 73,578,872 (GRCm39) |
Y444* |
probably null |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
| Lrrc47 |
A |
G |
4: 154,096,673 (GRCm39) |
Q156R |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,704,632 (GRCm39) |
L220P |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,355,814 (GRCm39) |
D273G |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,988,644 (GRCm39) |
I981F |
probably damaging |
Het |
| Or1q1 |
G |
A |
2: 36,887,469 (GRCm39) |
|
probably null |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or5aq1 |
A |
G |
2: 86,966,554 (GRCm39) |
I37T |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,462 (GRCm39) |
Y74H |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,853,694 (GRCm39) |
V46A |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,700,585 (GRCm39) |
T1784A |
probably damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,559,490 (GRCm39) |
V422A |
possibly damaging |
Het |
| Rlf |
G |
A |
4: 121,007,564 (GRCm39) |
T472I |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,318,313 (GRCm39) |
E417G |
probably damaging |
Het |
| Shisa2 |
A |
T |
14: 59,867,263 (GRCm39) |
T172S |
possibly damaging |
Het |
| Siglec1 |
T |
A |
2: 130,922,320 (GRCm39) |
Q585L |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,213,579 (GRCm39) |
M716K |
possibly damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Stxbp5l |
C |
A |
16: 36,962,734 (GRCm39) |
V774F |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,568,259 (GRCm39) |
F699S |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,649,471 (GRCm39) |
N560K |
probably benign |
Het |
| Trpv4 |
T |
A |
5: 114,764,981 (GRCm39) |
I678F |
probably damaging |
Het |
| Ttc3 |
A |
T |
16: 94,267,793 (GRCm39) |
H1935L |
possibly damaging |
Het |
| Vmn2r59 |
T |
A |
7: 41,696,529 (GRCm39) |
Y71F |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,003,415 (GRCm39) |
I2900T |
probably damaging |
Het |
| Zfp184 |
A |
G |
13: 22,143,799 (GRCm39) |
T502A |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,551 (GRCm39) |
I1019V |
probably benign |
Het |
|
| Other mutations in Tmem87b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01320:Tmem87b
|
APN |
2 |
128,673,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02224:Tmem87b
|
APN |
2 |
128,676,127 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03387:Tmem87b
|
APN |
2 |
128,665,019 (GRCm39) |
missense |
probably benign |
0.08 |
|
PIT4445001:Tmem87b
|
UTSW |
2 |
128,673,391 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0054:Tmem87b
|
UTSW |
2 |
128,673,361 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0054:Tmem87b
|
UTSW |
2 |
128,673,361 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0363:Tmem87b
|
UTSW |
2 |
128,673,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0750:Tmem87b
|
UTSW |
2 |
128,660,356 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1496:Tmem87b
|
UTSW |
2 |
128,668,313 (GRCm39) |
splice site |
probably null |
|
|
R1520:Tmem87b
|
UTSW |
2 |
128,681,176 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1766:Tmem87b
|
UTSW |
2 |
128,681,090 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1908:Tmem87b
|
UTSW |
2 |
128,673,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Tmem87b
|
UTSW |
2 |
128,673,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3840:Tmem87b
|
UTSW |
2 |
128,668,304 (GRCm39) |
nonsense |
probably null |
|
|
R4426:Tmem87b
|
UTSW |
2 |
128,688,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5159:Tmem87b
|
UTSW |
2 |
128,666,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5471:Tmem87b
|
UTSW |
2 |
128,693,240 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6550:Tmem87b
|
UTSW |
2 |
128,666,385 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7467:Tmem87b
|
UTSW |
2 |
128,691,071 (GRCm39) |
splice site |
probably null |
|
|
R7664:Tmem87b
|
UTSW |
2 |
128,690,974 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7696:Tmem87b
|
UTSW |
2 |
128,683,237 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7971:Tmem87b
|
UTSW |
2 |
128,692,250 (GRCm39) |
missense |
probably null |
1.00 |
|
R9110:Tmem87b
|
UTSW |
2 |
128,684,615 (GRCm39) |
nonsense |
probably null |
|
|
R9150:Tmem87b
|
UTSW |
2 |
128,687,401 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9162:Tmem87b
|
UTSW |
2 |
128,681,150 (GRCm39) |
missense |
probably benign |
|
|
R9495:Tmem87b
|
UTSW |
2 |
128,660,353 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9586:Tmem87b
|
UTSW |
2 |
128,660,260 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAAAAGGGTCAGAGGCTCAC -3'
(R):5'- TGCTTTACAAACTGAGCCACC -3'
Sequencing Primer
(F):5'- GGTCAGAGGCTCACACTGTTTC -3'
(R):5'- AAGCCTCCTAACATTCTCTTGTTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation