Incidental Mutation 'R0053:Mycbpap'
ID |
15931 |
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: 0.379)
|
Stock # |
R0053 (G1)
|
Quality Score |
|
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: 89.7%
- 3x: 87.2%
- 10x: 81.1%
- 20x: 72.5%
|
Validation Efficiency |
94% (72/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp10b |
A |
G |
11: 43,107,391 (GRCm39) |
|
probably benign |
Het |
AY761185 |
A |
T |
8: 21,434,546 (GRCm39) |
|
probably benign |
Het |
BC048671 |
G |
A |
6: 90,282,076 (GRCm39) |
V78I |
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 |
Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
Fbxw9 |
T |
A |
8: 85,791,083 (GRCm39) |
L250Q |
probably damaging |
Het |
Fry |
C |
A |
5: 150,384,842 (GRCm39) |
|
probably benign |
Het |
Gm19993 |
A |
G |
1: 19,905,272 (GRCm39) |
|
|
Het |
Gpr75 |
A |
T |
11: 30,842,571 (GRCm39) |
Q492L |
possibly damaging |
Het |
Hc |
C |
T |
2: 34,947,287 (GRCm39) |
E76K |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,007,865 (GRCm39) |
C1488R |
probably damaging |
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 |
Izumo3 |
A |
T |
4: 92,033,267 (GRCm39) |
Y110N |
probably damaging |
Het |
Katnbl1 |
A |
G |
2: 112,234,586 (GRCm39) |
R23G |
probably benign |
Het |
Kif7 |
A |
G |
7: 79,351,927 (GRCm39) |
V945A |
probably benign |
Het |
Lamb2 |
T |
A |
9: 108,363,936 (GRCm39) |
C987* |
probably null |
Het |
Mmp14 |
T |
A |
14: 54,676,109 (GRCm39) |
|
probably benign |
Het |
Nav3 |
A |
G |
10: 109,602,778 (GRCm39) |
|
probably benign |
Het |
Nr5a1 |
C |
T |
2: 38,584,178 (GRCm39) |
G414R |
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 |
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 |
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 |
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 |
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 |
Ttll9 |
A |
T |
2: 152,804,426 (GRCm39) |
|
probably benign |
Het |
Tyw5 |
G |
A |
1: 57,440,597 (GRCm39) |
T55M |
probably damaging |
Het |
Usp19 |
A |
G |
9: 108,374,369 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
A |
T |
5: 101,992,480 (GRCm39) |
M3384K |
probably damaging |
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 |
|
Posted On |
2013-01-08 |