Incidental Mutation 'IGL03387:Tmem87b'
| ID |
420898 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem87b
|
| Ensembl Gene |
ENSMUSG00000014353 |
| Gene Name |
transmembrane protein 87B |
| Synonyms |
2810431I02Rik, 2610301K12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03387
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
128660038-128696181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128665019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 61
(V61A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110325]
[ENSMUST00000152210]
|
| AlphaFold |
Q8BKU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110325
AA Change: V61A
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105954
Gene: ENSMUSG00000014353
AA Change: V61A
| 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 |
probably benign
Transcript: ENSMUST00000152210
AA Change: V46A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000119093
Gene: ENSMUSG00000014353
AA Change: V46A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Lung_7-TM_R
|
159 |
452 |
1.6e-97 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
C |
13: 68,878,486 (GRCm39) |
I384S |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,087,273 (GRCm38) |
|
probably benign |
Het |
| Blm |
A |
T |
7: 80,143,895 (GRCm39) |
V848D |
probably damaging |
Het |
| Cul1 |
G |
T |
6: 47,478,143 (GRCm39) |
L175F |
probably damaging |
Het |
| Cyp4a29 |
A |
G |
4: 115,108,368 (GRCm39) |
H364R |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,465,483 (GRCm39) |
D1380G |
probably damaging |
Het |
| Det1 |
A |
T |
7: 78,493,372 (GRCm39) |
C211S |
possibly damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,559,200 (GRCm39) |
Y822H |
probably damaging |
Het |
| F5 |
A |
C |
1: 164,020,801 (GRCm39) |
Q1092P |
probably damaging |
Het |
| Fam117b |
A |
C |
1: 59,992,119 (GRCm39) |
Y256S |
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,728,796 (GRCm39) |
|
probably null |
Het |
| Galnt7 |
A |
G |
8: 57,979,212 (GRCm39) |
I637T |
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,317,671 (GRCm39) |
K120N |
unknown |
Het |
| Hes2 |
A |
G |
4: 152,244,269 (GRCm39) |
K18R |
probably damaging |
Het |
| Icam5 |
A |
T |
9: 20,945,097 (GRCm39) |
Q220L |
probably benign |
Het |
| Kdm8 |
G |
A |
7: 125,054,278 (GRCm39) |
A170T |
probably benign |
Het |
| Krt40 |
G |
A |
11: 99,430,711 (GRCm39) |
A321V |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,828,979 (GRCm39) |
V45D |
probably damaging |
Het |
| Mbip |
A |
G |
12: 56,382,597 (GRCm39) |
Y290H |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,354,195 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,051 (GRCm39) |
S300P |
probably benign |
Het |
| Nanog |
T |
C |
6: 122,688,731 (GRCm39) |
L104P |
probably damaging |
Het |
| Or10ak11 |
T |
C |
4: 118,687,238 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,457 (GRCm39) |
H104Q |
probably damaging |
Het |
| Or4f60 |
T |
A |
2: 111,902,007 (GRCm39) |
Y307F |
probably benign |
Het |
| Or52n2c |
A |
T |
7: 104,574,580 (GRCm39) |
N130K |
probably benign |
Het |
| Oxgr1 |
C |
A |
14: 120,260,199 (GRCm39) |
E3* |
probably null |
Het |
| Pam16 |
A |
T |
16: 4,434,671 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
T |
2: 134,655,606 (GRCm39) |
|
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 38,969,359 (GRCm39) |
V58E |
probably benign |
Het |
| Slc2a12 |
G |
T |
10: 22,541,134 (GRCm39) |
V330F |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,591,881 (GRCm39) |
E1247G |
possibly damaging |
Het |
| Supt5 |
A |
T |
7: 28,019,508 (GRCm39) |
C519S |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,221,922 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,180 (GRCm39) |
W294R |
possibly damaging |
Het |
| Tex21 |
A |
T |
12: 76,245,694 (GRCm39) |
M534K |
probably damaging |
Het |
| Tmem132c |
T |
C |
5: 127,640,784 (GRCm39) |
I985T |
probably benign |
Het |
| Trhr2 |
G |
A |
8: 123,085,220 (GRCm39) |
|
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,381,208 (GRCm39) |
D1209G |
probably benign |
Het |
| Uchl5 |
A |
G |
1: 143,677,940 (GRCm39) |
E148G |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,970,199 (GRCm39) |
I203V |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,931,148 (GRCm39) |
I799V |
possibly damaging |
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 |
|
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 |
|
R5105:Tmem87b
|
UTSW |
2 |
128,673,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation