Incidental Mutation 'IGL03412:Mycbpap'
| ID |
421866 |
| 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 # |
IGL03412
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
94392173-94412568 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 94398927 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 null
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: ENSMUST00000139432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151993
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,455,390 (GRCm39) |
R736* |
probably null |
Het |
| Agpat2 |
T |
C |
2: 26,483,673 (GRCm39) |
T255A |
probably benign |
Het |
| Akap3 |
G |
A |
6: 126,841,688 (GRCm39) |
M102I |
probably benign |
Het |
| Cd300lb |
C |
A |
11: 114,819,206 (GRCm39) |
R5M |
probably damaging |
Het |
| Chrna5 |
A |
T |
9: 54,911,719 (GRCm39) |
D69V |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,249,508 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
A |
T |
10: 59,725,895 (GRCm39) |
H60L |
probably benign |
Het |
| Dnal1 |
T |
A |
12: 84,182,441 (GRCm39) |
M1K |
probably null |
Het |
| Exoc7 |
C |
T |
11: 116,180,101 (GRCm39) |
V655M |
possibly damaging |
Het |
| Fastkd3 |
A |
G |
13: 68,731,840 (GRCm39) |
R54G |
probably benign |
Het |
| Fbln2 |
G |
A |
6: 91,248,763 (GRCm39) |
D1143N |
probably damaging |
Het |
| Flii |
C |
T |
11: 60,613,466 (GRCm39) |
V174M |
probably damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,979,375 (GRCm39) |
I388M |
probably damaging |
Het |
| Il20rb |
A |
G |
9: 100,357,049 (GRCm39) |
V27A |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,049,344 (GRCm39) |
S320P |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,359,396 (GRCm39) |
S114G |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,552,239 (GRCm39) |
V397A |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,016,746 (GRCm39) |
V356D |
probably damaging |
Het |
| Mcpt9 |
T |
G |
14: 56,265,484 (GRCm39) |
T72P |
probably damaging |
Het |
| Mmd |
T |
C |
11: 90,148,429 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
G |
A |
15: 4,973,854 (GRCm39) |
R1124Q |
probably benign |
Het |
| Mvp |
T |
C |
7: 126,592,735 (GRCm39) |
D392G |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,080,395 (GRCm39) |
H1203R |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,281,726 (GRCm39) |
C816* |
probably null |
Het |
| Or4a70 |
T |
A |
2: 89,324,555 (GRCm39) |
I34F |
probably benign |
Het |
| Or5an6 |
A |
T |
19: 12,371,743 (GRCm39) |
T39S |
probably damaging |
Het |
| Pcdh12 |
C |
T |
18: 38,416,568 (GRCm39) |
V186M |
probably benign |
Het |
| Pik3c2a |
C |
T |
7: 116,017,074 (GRCm39) |
E228K |
probably benign |
Het |
| Plcz1 |
A |
C |
6: 139,961,823 (GRCm39) |
Y243D |
probably damaging |
Het |
| Rspo3 |
T |
A |
10: 29,411,270 (GRCm39) |
I19F |
possibly damaging |
Het |
| Slc2a12 |
T |
C |
10: 22,540,868 (GRCm39) |
L241P |
probably damaging |
Het |
| Slc4a10 |
G |
A |
2: 62,080,887 (GRCm39) |
|
probably benign |
Het |
| Snai2 |
A |
T |
16: 14,525,120 (GRCm39) |
T209S |
possibly damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,203,848 (GRCm39) |
D549G |
probably damaging |
Het |
| Srsf12 |
G |
A |
4: 33,230,929 (GRCm39) |
R141Q |
probably damaging |
Het |
| Stab1 |
T |
G |
14: 30,876,364 (GRCm39) |
E908D |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,494,074 (GRCm39) |
M634L |
probably benign |
Het |
| Tex21 |
A |
G |
12: 76,291,780 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
C |
A |
17: 24,816,042 (GRCm39) |
R1715L |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,726,480 (GRCm39) |
I693V |
probably benign |
Het |
| Vmn1r5 |
A |
T |
6: 56,962,918 (GRCm39) |
M198L |
possibly damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,085,007 (GRCm39) |
Y251H |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,862 (GRCm39) |
I651T |
probably benign |
Het |
| Wdr3 |
G |
T |
3: 100,059,293 (GRCm39) |
T342K |
probably benign |
Het |
| Zbtb44 |
A |
G |
9: 30,964,763 (GRCm39) |
T58A |
probably benign |
Het |
| Zeb2 |
A |
G |
2: 44,892,720 (GRCm39) |
|
probably benign |
Het |
| Zmym2 |
C |
T |
14: 57,197,176 (GRCm39) |
Q1315* |
probably null |
Het |
| Zmym6 |
T |
C |
4: 126,986,731 (GRCm39) |
I137T |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation