Incidental Mutation 'R9586:Tmem87b'
| ID |
722786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem87b
|
| Ensembl Gene |
ENSMUSG00000014353 |
| Gene Name |
transmembrane protein 87B |
| Synonyms |
2810431I02Rik, 2610301K12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
128660038-128696181 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 128660260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110325]
[ENSMUST00000152210]
|
| AlphaFold |
Q8BKU8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000110325
AA Change: M1K
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105954
Gene: ENSMUSG00000014353
AA Change: M1K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119093
Gene: ENSMUSG00000014353
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip5 |
C |
T |
6: 97,206,572 (GRCm39) |
A84V |
possibly damaging |
Het |
| Cep170 |
G |
A |
1: 176,563,463 (GRCm39) |
P716L |
possibly damaging |
Het |
| Chrm3 |
A |
T |
13: 9,927,480 (GRCm39) |
C519S |
probably damaging |
Het |
| Dnase1l3 |
A |
T |
14: 7,967,796 (GRCm38) |
V299D |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,582,975 (GRCm39) |
L386P |
probably damaging |
Het |
| Elmo3 |
A |
G |
8: 106,034,760 (GRCm39) |
Y382C |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,139,746 (GRCm39) |
L945P |
|
Het |
| Fstl4 |
A |
T |
11: 53,077,729 (GRCm39) |
I829L |
probably benign |
Het |
| Gm36210 |
T |
A |
7: 4,909,324 (GRCm39) |
R45* |
probably null |
Het |
| Homer2 |
C |
T |
7: 81,260,113 (GRCm39) |
R318Q |
probably benign |
Het |
| Ice2 |
G |
A |
9: 69,314,478 (GRCm39) |
E76K |
probably damaging |
Het |
| Ifi203 |
T |
A |
1: 173,754,623 (GRCm39) |
R703* |
probably null |
Het |
| Insyn2a |
T |
C |
7: 134,520,180 (GRCm39) |
T117A |
probably damaging |
Het |
| Lonp1 |
G |
A |
17: 56,924,839 (GRCm39) |
R523C |
probably damaging |
Het |
| Myh10 |
G |
A |
11: 68,703,820 (GRCm39) |
V1881I |
possibly damaging |
Het |
| Nfe2 |
T |
C |
15: 103,157,244 (GRCm39) |
D249G |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,932,635 (GRCm39) |
|
probably null |
Het |
| Oog3 |
A |
T |
4: 143,884,966 (GRCm39) |
C323* |
probably null |
Het |
| Ovgp1 |
A |
G |
3: 105,881,138 (GRCm39) |
R3G |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,676,047 (GRCm39) |
I838M |
probably damaging |
Het |
| Rps6kc1 |
C |
A |
1: 190,514,774 (GRCm39) |
M1006I |
probably benign |
Het |
| Rpusd1 |
A |
G |
17: 25,947,292 (GRCm39) |
T37A |
probably damaging |
Het |
| Sema6d |
C |
A |
2: 124,496,096 (GRCm39) |
R47S |
probably damaging |
Het |
| Serpini2 |
G |
A |
3: 75,166,891 (GRCm39) |
T122I |
probably benign |
Het |
| Slc10a7 |
A |
G |
8: 79,456,266 (GRCm39) |
I289M |
probably damaging |
Het |
| Slc25a37 |
G |
T |
14: 69,482,421 (GRCm39) |
N293K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,458,039 (GRCm39) |
A3281T |
probably benign |
Het |
| Stard13 |
A |
T |
5: 150,985,832 (GRCm39) |
N559K |
possibly damaging |
Het |
| Vmn1r199 |
C |
T |
13: 22,567,716 (GRCm39) |
R337C |
probably benign |
Het |
| Vmn1r55 |
T |
A |
7: 5,149,770 (GRCm39) |
N218Y |
probably benign |
Het |
| Vmn2r41 |
T |
G |
7: 8,141,742 (GRCm39) |
Q574P |
|
Het |
| Vmn2r45 |
T |
C |
7: 8,486,050 (GRCm39) |
N413D |
probably benign |
Het |
| Wdr33 |
T |
C |
18: 31,966,669 (GRCm39) |
S170P |
probably damaging |
Het |
| Zfp385a |
A |
T |
15: 103,241,580 (GRCm39) |
I20N |
probably damaging |
Het |
| Zfp493 |
A |
G |
13: 67,932,017 (GRCm39) |
S39G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCCTATTTCCTCTAACAGC -3'
(R):5'- CCTAGTGAATGTGCCCAAGG -3'
Sequencing Primer
(F):5'- CTCTAACAGCGCCTATCCG -3'
(R):5'- GTCCCTACAGAGCACTTACGTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation