Incidental Mutation 'R0053:Mycbpap'
| ID |
218414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mycbpap
|
| Ensembl Gene |
ENSMUSG00000039110 |
| Gene Name |
MYCBP associated protein |
| Synonyms |
4932408B01Rik, AMAP-1 |
| MMRRC Submission |
038347-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.325)
|
| Stock # |
R0053 (G1)
|
| Quality Score |
78 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94392173-94412568 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94402562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 258
(Y258H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040692]
[ENSMUST00000093945]
|
| AlphaFold |
Q5SUV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040692
|
| SMART Domains |
Protein: ENSMUSP00000047579
Gene: ENSMUSG00000039110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MYCBPAP
|
6 |
85 |
2.3e-19 |
PFAM |
|
low complexity region
|
330 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093945
AA Change: Y258H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091477
Gene: ENSMUSG00000039110
AA Change: Y258H
| 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 |
noncoding transcript
Transcript: ENSMUST00000151993
|
| Meta Mutation Damage Score |
0.2053 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.5%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
A |
T |
2: 163,574,212 (GRCm39) |
V148D |
probably damaging |
Het |
| Alpi |
T |
C |
1: 87,026,512 (GRCm39) |
D493G |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,107,391 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
A |
T |
8: 21,434,546 (GRCm39) |
|
probably benign |
Het |
| Cadm1 |
C |
T |
9: 47,710,712 (GRCm39) |
T205I |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,322,318 (GRCm39) |
I413V |
possibly damaging |
Het |
| Cblb |
C |
T |
16: 51,963,164 (GRCm39) |
T369I |
probably damaging |
Het |
| Ccdc54 |
T |
A |
16: 50,410,597 (GRCm39) |
N223I |
probably benign |
Het |
| Cdc25c |
A |
G |
18: 34,868,488 (GRCm39) |
V294A |
probably benign |
Het |
| Cep170 |
A |
T |
1: 176,609,946 (GRCm39) |
S122T |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,967,451 (GRCm39) |
N849D |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,505,023 (GRCm39) |
W2051R |
probably benign |
Het |
| Dpp3 |
A |
G |
19: 4,973,154 (GRCm39) |
C147R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
| Fbxw9 |
T |
A |
8: 85,791,083 (GRCm39) |
L250Q |
probably damaging |
Het |
| Gpr75 |
A |
T |
11: 30,842,571 (GRCm39) |
Q492L |
possibly damaging |
Het |
| Gramd4 |
T |
A |
15: 86,014,339 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,007,865 (GRCm39) |
C1488R |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Inava |
C |
T |
1: 136,155,288 (GRCm39) |
V106I |
probably benign |
Het |
| Insr |
A |
G |
8: 3,205,683 (GRCm39) |
S1369P |
probably damaging |
Het |
| Insrr |
A |
C |
3: 87,707,759 (GRCm39) |
D67A |
probably damaging |
Het |
| Irf2 |
T |
A |
8: 47,271,886 (GRCm39) |
Y158N |
probably benign |
Het |
| Katnbl1 |
A |
G |
2: 112,234,586 (GRCm39) |
R23G |
probably benign |
Het |
| Lamb2 |
T |
A |
9: 108,363,936 (GRCm39) |
C987* |
probably null |
Het |
| Lzts2 |
T |
C |
19: 45,014,746 (GRCm39) |
|
probably benign |
Het |
| Mmp14 |
T |
A |
14: 54,676,109 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,602,778 (GRCm39) |
|
probably benign |
Het |
| Or10j7 |
T |
C |
1: 173,011,845 (GRCm39) |
D52G |
probably benign |
Het |
| Or4c100 |
T |
A |
2: 88,356,507 (GRCm39) |
N193K |
probably damaging |
Het |
| Parp10 |
T |
A |
15: 76,126,446 (GRCm39) |
L247F |
probably damaging |
Het |
| Pcsk6 |
C |
T |
7: 65,633,451 (GRCm39) |
|
probably benign |
Het |
| Pgap3 |
A |
T |
11: 98,281,924 (GRCm39) |
V129D |
probably benign |
Het |
| Pibf1 |
A |
G |
14: 99,377,993 (GRCm39) |
Y373C |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,136,835 (GRCm39) |
E310G |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,586,892 (GRCm39) |
D385G |
probably damaging |
Het |
| Pole |
A |
T |
5: 110,441,206 (GRCm39) |
D220V |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,351,105 (GRCm39) |
F533I |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,229,088 (GRCm39) |
D711E |
probably benign |
Het |
| Rufy1 |
A |
T |
11: 50,292,292 (GRCm39) |
M499K |
probably benign |
Het |
| Scn1a |
T |
G |
2: 66,130,119 (GRCm39) |
D1232A |
probably benign |
Het |
| Sec23ip |
T |
C |
7: 128,346,891 (GRCm39) |
L49P |
probably damaging |
Het |
| Sf3b1 |
G |
A |
1: 55,039,532 (GRCm39) |
Q698* |
probably null |
Het |
| Shprh |
A |
T |
10: 11,070,116 (GRCm39) |
|
probably null |
Het |
| Snd1 |
C |
A |
6: 28,745,334 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,862,644 (GRCm39) |
A2260T |
possibly damaging |
Het |
| Stpg2 |
A |
G |
3: 138,918,082 (GRCm39) |
Q60R |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,363 (GRCm39) |
H687R |
possibly damaging |
Het |
| Tgfb3 |
A |
T |
12: 86,124,603 (GRCm39) |
I35N |
probably damaging |
Het |
| Tnks2 |
T |
C |
19: 36,852,765 (GRCm39) |
S166P |
probably damaging |
Het |
| Tyw5 |
G |
A |
1: 57,440,597 (GRCm39) |
T55M |
probably damaging |
Het |
| Usp19 |
A |
G |
9: 108,374,369 (GRCm39) |
|
probably null |
Het |
| Zfp13 |
A |
T |
17: 23,795,122 (GRCm39) |
I483N |
probably damaging |
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 |
|
P0008:Mycbpap
|
UTSW |
11 |
94,394,893 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTAGGCACAAGGAGCTAACAGA -3'
(R):5'- TGAGAACAAAACATTGTTGAGTGCCCA -3'
Sequencing Primer
(F):5'- tcatagaaacaccaccaaagaac -3'
(R):5'- CACTCTTCTTCCAGTGGGAC -3'
|
| Posted On |
2014-08-06 |
Incidental Mutation