Incidental Mutation 'IGL01320:Tmem87b'
ID |
74004 |
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 # |
IGL01320
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
128660038-128696181 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 128673136 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 190
(G190V)
|
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: G205V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105954 Gene: ENSMUSG00000014353 AA Change: G205V
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: G190V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119093 Gene: ENSMUSG00000014353 AA Change: G190V
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: G205V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000136169 Gene: ENSMUSG00000014353 AA Change: G205V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
Pfam:Lung_7-TM_R
|
174 |
467 |
1.4e-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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,552,551 (GRCm39) |
E229G |
probably benign |
Het |
Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
Ankrd17 |
A |
T |
5: 90,407,988 (GRCm39) |
S1410T |
probably damaging |
Het |
Asb8 |
A |
G |
15: 98,039,159 (GRCm39) |
|
probably benign |
Het |
Bmal1 |
T |
C |
7: 112,902,614 (GRCm39) |
I421T |
probably damaging |
Het |
Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
Crnn |
T |
C |
3: 93,055,519 (GRCm39) |
S102P |
probably damaging |
Het |
Cyb5a |
T |
C |
18: 84,897,648 (GRCm39) |
I115T |
probably damaging |
Het |
Daw1 |
T |
C |
1: 83,175,901 (GRCm39) |
I213T |
possibly damaging |
Het |
Dcp1b |
T |
A |
6: 119,192,036 (GRCm39) |
S317R |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
E2f7 |
G |
A |
10: 110,589,954 (GRCm39) |
V36I |
probably benign |
Het |
Esrp1 |
A |
G |
4: 11,384,374 (GRCm39) |
I103T |
possibly damaging |
Het |
Hap1 |
G |
A |
11: 100,240,206 (GRCm39) |
T530I |
probably damaging |
Het |
Hps3 |
T |
C |
3: 20,084,633 (GRCm39) |
N185S |
probably benign |
Het |
Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
Lipn |
A |
G |
19: 34,062,040 (GRCm39) |
T332A |
probably benign |
Het |
Ltbp4 |
A |
G |
7: 27,027,784 (GRCm39) |
|
probably benign |
Het |
Ncor2 |
A |
G |
5: 125,186,991 (GRCm39) |
V11A |
probably benign |
Het |
Nipsnap2 |
C |
T |
5: 129,821,828 (GRCm39) |
T108M |
probably damaging |
Het |
Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
Or5w22 |
T |
A |
2: 87,362,629 (GRCm39) |
M84K |
probably benign |
Het |
Ppid |
A |
G |
3: 79,502,584 (GRCm39) |
E46G |
probably damaging |
Het |
Rrp12 |
A |
G |
19: 41,866,375 (GRCm39) |
L626P |
probably damaging |
Het |
Slc6a15 |
A |
T |
10: 103,240,606 (GRCm39) |
I410F |
probably benign |
Het |
Sorcs1 |
A |
G |
19: 50,276,517 (GRCm39) |
|
probably benign |
Het |
Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
St8sia5 |
A |
T |
18: 77,342,318 (GRCm39) |
T307S |
probably damaging |
Het |
Stac2 |
T |
C |
11: 97,930,921 (GRCm39) |
|
probably null |
Het |
Tiam2 |
T |
C |
17: 3,556,020 (GRCm39) |
L77P |
probably damaging |
Het |
Trav7-6 |
T |
C |
14: 53,954,565 (GRCm39) |
S32P |
possibly damaging |
Het |
Unc45b |
A |
G |
11: 82,803,219 (GRCm39) |
|
probably null |
Het |
Wnt1 |
C |
A |
15: 98,690,404 (GRCm39) |
D244E |
possibly damaging |
Het |
|
Other mutations in Tmem87b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-10-07 |