Incidental Mutation 'P0008:Mycbpap'
| ID |
7550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mycbpap
|
| Ensembl Gene |
ENSMUSG00000039110 |
| Gene Name |
MYCBP associated protein |
| Synonyms |
4932408B01Rik, AMAP-1 |
| MMRRC Submission |
038264-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.325)
|
| Stock # |
P0008 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94392173-94412568 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94394893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 270
(D270V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040692]
[ENSMUST00000093945]
[ENSMUST00000127305]
|
| AlphaFold |
Q5SUV2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000010224
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040692
AA Change: D270V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000047579
Gene: ENSMUSG00000039110
AA Change: D270V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MYCBPAP
|
6 |
85 |
2.3e-19 |
PFAM |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093945
AA Change: D788V
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091477
Gene: ENSMUSG00000039110
AA Change: D788V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
176 |
N/A |
INTRINSIC |
|
Pfam:MYCBPAP
|
184 |
602 |
3.7e-144 |
PFAM |
|
low complexity region
|
848 |
860 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123496
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127305
|
| SMART Domains |
Protein: ENSMUSP00000121390
Gene: ENSMUSG00000010080
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
18 |
144 |
1.3e-62 |
SMART |
|
low complexity region
|
167 |
190 |
N/A |
INTRINSIC |
|
UIM
|
202 |
221 |
2.11e-2 |
SMART |
|
UIM
|
229 |
248 |
5.27e-3 |
SMART |
|
low complexity region
|
269 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
618 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150526
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 86.8%
- 3x: 83.1%
- 10x: 72.7%
- 20x: 59.5%
|
| Validation Efficiency |
70% (420/599) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 9 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat3 |
T |
C |
10: 78,123,710 (GRCm39) |
N50S |
probably damaging |
Het |
| Cfap70 |
A |
T |
14: 20,466,600 (GRCm39) |
F550I |
probably damaging |
Het |
| Dmpk |
G |
A |
7: 18,821,987 (GRCm39) |
R315H |
possibly damaging |
Het |
| Dnah5 |
T |
A |
15: 28,302,533 (GRCm39) |
Y1597N |
probably damaging |
Het |
| Mocos |
A |
T |
18: 24,812,663 (GRCm39) |
Q519L |
probably benign |
Het |
| Pkp1 |
T |
C |
1: 135,803,421 (GRCm39) |
M712V |
probably benign |
Het |
| Sgtb |
T |
C |
13: 104,260,782 (GRCm39) |
V77A |
probably damaging |
Het |
| Srpk2 |
T |
C |
5: 23,718,976 (GRCm39) |
Y613C |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,744,178 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mycbpap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01313:Mycbpap
|
APN |
11 |
94,400,145 (GRCm39) |
splice site |
probably null |
|
|
IGL01372:Mycbpap
|
APN |
11 |
94,397,282 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01627:Mycbpap
|
APN |
11 |
94,405,430 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01645:Mycbpap
|
APN |
11 |
94,394,293 (GRCm39) |
splice site |
probably null |
|
|
IGL01712:Mycbpap
|
APN |
11 |
94,403,481 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02209:Mycbpap
|
APN |
11 |
94,400,708 (GRCm39) |
splice site |
probably benign |
|
|
IGL02377:Mycbpap
|
APN |
11 |
94,394,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Mycbpap
|
APN |
11 |
94,404,769 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03412:Mycbpap
|
APN |
11 |
94,398,927 (GRCm39) |
splice site |
probably null |
|
|
IGL03046:Mycbpap
|
UTSW |
11 |
94,396,543 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0053:Mycbpap
|
UTSW |
11 |
94,402,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Mycbpap
|
UTSW |
11 |
94,402,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Mycbpap
|
UTSW |
11 |
94,404,338 (GRCm39) |
splice site |
probably benign |
|
|
R0706:Mycbpap
|
UTSW |
11 |
94,404,612 (GRCm39) |
nonsense |
probably null |
|
|
R0791:Mycbpap
|
UTSW |
11 |
94,402,449 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1496:Mycbpap
|
UTSW |
11 |
94,396,387 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1522:Mycbpap
|
UTSW |
11 |
94,402,449 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1698:Mycbpap
|
UTSW |
11 |
94,398,969 (GRCm39) |
nonsense |
probably null |
|
|
R1796:Mycbpap
|
UTSW |
11 |
94,398,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1906:Mycbpap
|
UTSW |
11 |
94,396,447 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4115:Mycbpap
|
UTSW |
11 |
94,403,051 (GRCm39) |
splice site |
probably null |
|
|
R4930:Mycbpap
|
UTSW |
11 |
94,393,983 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4965:Mycbpap
|
UTSW |
11 |
94,395,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5323:Mycbpap
|
UTSW |
11 |
94,394,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5326:Mycbpap
|
UTSW |
11 |
94,398,572 (GRCm39) |
splice site |
probably null |
|
|
R5542:Mycbpap
|
UTSW |
11 |
94,398,572 (GRCm39) |
splice site |
probably null |
|
|
R5625:Mycbpap
|
UTSW |
11 |
94,396,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5841:Mycbpap
|
UTSW |
11 |
94,396,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Mycbpap
|
UTSW |
11 |
94,404,420 (GRCm39) |
missense |
probably benign |
|
|
R6065:Mycbpap
|
UTSW |
11 |
94,399,013 (GRCm39) |
splice site |
probably null |
|
|
R6192:Mycbpap
|
UTSW |
11 |
94,398,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Mycbpap
|
UTSW |
11 |
94,405,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7329:Mycbpap
|
UTSW |
11 |
94,400,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Mycbpap
|
UTSW |
11 |
94,394,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Mycbpap
|
UTSW |
11 |
94,405,359 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8485:Mycbpap
|
UTSW |
11 |
94,402,534 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8985:Mycbpap
|
UTSW |
11 |
94,404,722 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9116:Mycbpap
|
UTSW |
11 |
94,398,032 (GRCm39) |
intron |
probably benign |
|
|
R9173:Mycbpap
|
UTSW |
11 |
94,397,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9413:Mycbpap
|
UTSW |
11 |
94,392,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9428:Mycbpap
|
UTSW |
11 |
94,393,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mycbpap
|
UTSW |
11 |
94,400,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Protein Function and Prediction |
Mycbp-associated protein (Mycbpap; alternatively, Amap-1) associates with Amy1, a protein that binds to and stimulates the transcription of c-Myc (1).
|
| Expression/Localization |
Northern blot analysis of AMAP-1 detected transcripts in the testis; RT-PCR of mouse tissues confirmed the human study, and observed Amap-1 expression as early as 3 weeks and increases after spermatid expression (after 10 weeks) (2).
|
| References |
1. Taira, T., Maeda, J., Onishi, T., Kitaura, H., Yoshida, S., Kato, H., Ikeda, M., Tamai, K., Iguchi-Ariga, S. M., and Ariga, H. (1998) AMY-1, a Novel C-MYC Binding Protein that Stimulates Transcription Activity of C-MYC. Genes Cells. 3, 549-565.
2. Yukitake, H., Furusawa, M., Taira, T., Iguchi-Ariga, S. M., and Ariga, H. (2002) AMAP-1, a Novel Testis-Specific AMY-1-Binding Protein, is Differentially Expressed during the Course of Spermatogenesis. Biochim Biophys Acta. 1577, 126-132. |
| Posted On |
2012-10-04 |
| Science Writer |
Anne Murray |
Incidental Mutation