Incidental Mutation 'R0750:Tmem87b'
| ID |
70273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem87b
|
| Ensembl Gene |
ENSMUSG00000014353 |
| Gene Name |
transmembrane protein 87B |
| Synonyms |
2810431I02Rik, 2610301K12Rik |
| MMRRC Submission |
038930-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0750 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128660038-128696181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128660356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 33
(L33P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110325]
[ENSMUST00000152210]
|
| AlphaFold |
Q8BKU8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110325
AA Change: L33P
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105954
Gene: ENSMUSG00000014353
AA Change: L33P
| 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 |
possibly damaging
Transcript: ENSMUST00000152210
AA Change: L18P
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119093
Gene: ENSMUSG00000014353
AA Change: L18P
| 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 |
possibly damaging
Transcript: ENSMUST00000178354
AA Change: L33P
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136169
Gene: ENSMUSG00000014353
AA Change: L33P
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.3%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
T |
4: 156,251,394 (GRCm39) |
L1974* |
probably null |
Het |
| Brd4 |
T |
C |
17: 32,439,226 (GRCm39) |
E418G |
probably benign |
Het |
| Brip1 |
G |
A |
11: 85,952,325 (GRCm39) |
S1152L |
possibly damaging |
Het |
| Btrc |
T |
G |
19: 45,491,585 (GRCm39) |
F81C |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,157,642 (GRCm39) |
L585P |
probably damaging |
Het |
| Cfap46 |
T |
G |
7: 139,234,586 (GRCm39) |
E671D |
probably damaging |
Het |
| Dsg1a |
T |
C |
18: 20,473,210 (GRCm39) |
L761P |
probably benign |
Het |
| Ece2 |
G |
T |
16: 20,451,800 (GRCm39) |
V396L |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
CGGAGGAGGAGGAGGAGGA |
CGGAGGAGGAGGAGGA |
14: 119,376,119 (GRCm39) |
|
probably benign |
Het |
| Id2 |
A |
G |
12: 25,145,670 (GRCm39) |
S114P |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,861,839 (GRCm39) |
F1133S |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,275,707 (GRCm39) |
|
probably null |
Het |
| Krt35 |
A |
G |
11: 99,986,979 (GRCm39) |
S12P |
possibly damaging |
Het |
| Or5a1 |
T |
C |
19: 12,098,077 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,545,905 (GRCm39) |
F479S |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
| Tmed6 |
T |
C |
8: 107,788,401 (GRCm39) |
Y182C |
possibly damaging |
Het |
| Tmem174 |
G |
T |
13: 98,773,787 (GRCm39) |
N14K |
probably damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,299,812 (GRCm39) |
Y270C |
probably benign |
Het |
| Vps37d |
A |
T |
5: 135,103,294 (GRCm39) |
L116Q |
possibly damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,493 (GRCm39) |
S486G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCCTATTTCCTCTAACAGCGCC -3'
(R):5'- AGAGCCCTAGTGAATGTGCCCAAG -3'
Sequencing Primer
(F):5'- AGCGCCTATCCGCTTCAG -3'
(R):5'- TGAATGTGCCCAAGGCCAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation