Incidental Mutation 'IGL02209:Mycbpap'
ID |
284648 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mycbpap
|
Ensembl Gene |
ENSMUSG00000039110 |
Gene Name |
MYCBP associated protein |
Synonyms |
4932408B01Rik, AMAP-1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.325)
|
Stock # |
IGL02209
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
94392173-94412568 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 94400708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
Transcript: ENSMUST00000093945
|
SMART Domains |
Protein: ENSMUSP00000091477 Gene: ENSMUSG00000039110
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
C |
T |
17: 36,274,901 (GRCm39) |
R82Q |
probably damaging |
Het |
Acmsd |
A |
G |
1: 127,687,492 (GRCm39) |
Y258C |
probably damaging |
Het |
Anapc5 |
A |
G |
5: 122,938,676 (GRCm39) |
I366T |
possibly damaging |
Het |
Crkl |
C |
T |
16: 17,287,098 (GRCm39) |
T218I |
probably benign |
Het |
Egf |
A |
T |
3: 129,500,956 (GRCm39) |
I213K |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,360,491 (GRCm39) |
T33A |
probably benign |
Het |
Garnl3 |
T |
C |
2: 32,975,942 (GRCm39) |
D93G |
probably damaging |
Het |
Hook3 |
C |
T |
8: 26,560,293 (GRCm39) |
D311N |
probably damaging |
Het |
Iglv3 |
T |
C |
16: 19,060,420 (GRCm39) |
T4A |
probably benign |
Het |
Kctd17 |
A |
G |
15: 78,319,792 (GRCm39) |
N70S |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,752,448 (GRCm39) |
|
probably benign |
Het |
Lrif1 |
A |
C |
3: 106,639,045 (GRCm39) |
L18F |
probably damaging |
Het |
Mfsd1 |
A |
G |
3: 67,505,465 (GRCm39) |
|
probably benign |
Het |
Msh4 |
A |
G |
3: 153,594,499 (GRCm39) |
Y101H |
probably damaging |
Het |
Myt1 |
A |
G |
2: 181,439,027 (GRCm39) |
D183G |
probably benign |
Het |
Nppc |
T |
C |
1: 86,597,387 (GRCm39) |
*127W |
probably null |
Het |
Or10al3 |
G |
A |
17: 38,011,883 (GRCm39) |
M107I |
probably damaging |
Het |
Or1ak2 |
C |
T |
2: 36,827,517 (GRCm39) |
P129S |
probably damaging |
Het |
Or2n1e |
A |
G |
17: 38,586,123 (GRCm39) |
I154V |
probably benign |
Het |
Or51i2 |
T |
G |
7: 103,689,663 (GRCm39) |
L220R |
probably damaging |
Het |
Or8b3b |
T |
C |
9: 38,584,342 (GRCm39) |
K146E |
possibly damaging |
Het |
Pde5a |
A |
G |
3: 122,618,664 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,365,296 (GRCm39) |
V1139A |
probably damaging |
Het |
Pwwp2b |
G |
A |
7: 138,835,021 (GRCm39) |
R154Q |
probably damaging |
Het |
Satb2 |
C |
T |
1: 56,910,677 (GRCm39) |
V264I |
probably damaging |
Het |
Slc6a2 |
T |
A |
8: 93,720,688 (GRCm39) |
F435Y |
probably benign |
Het |
Stmn2 |
T |
C |
3: 8,625,321 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
G |
16: 90,784,307 (GRCm39) |
I277T |
probably damaging |
Het |
Trio |
C |
T |
15: 27,744,139 (GRCm39) |
A2598T |
probably damaging |
Het |
Tshz2 |
G |
A |
2: 169,726,684 (GRCm39) |
V427M |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,559,039 (GRCm39) |
S1405P |
probably damaging |
Het |
Vmn1r173 |
G |
A |
7: 23,402,586 (GRCm39) |
V274I |
probably benign |
Het |
Vmn2r116 |
T |
C |
17: 23,607,761 (GRCm39) |
F443S |
probably damaging |
Het |
Vps13d |
C |
A |
4: 144,882,671 (GRCm39) |
R974L |
probably damaging |
Het |
Wapl |
T |
A |
14: 34,399,218 (GRCm39) |
S96T |
possibly damaging |
Het |
Zfp516 |
A |
G |
18: 83,012,622 (GRCm39) |
D1125G |
probably benign |
Het |
Zfp692 |
C |
T |
11: 58,204,824 (GRCm39) |
R395* |
probably null |
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 |
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 |
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 |
2015-04-16 |