Incidental Mutation 'IGL01313:Mycbpap'
| ID |
73757 |
| 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 # |
IGL01313
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
94392173-94412568 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 94400145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040692]
[ENSMUST00000093945]
|
| AlphaFold |
Q5SUV2 |
| Predicted Effect |
probably null
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: M384R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091477
Gene: ENSMUSG00000039110
AA Change: M384R
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,621,969 (GRCm39) |
|
probably null |
Het |
| Abca7 |
T |
A |
10: 79,838,957 (GRCm39) |
|
probably benign |
Het |
| Acvr1c |
T |
G |
2: 58,205,986 (GRCm39) |
Q41H |
probably benign |
Het |
| Apob |
A |
T |
12: 8,050,898 (GRCm39) |
N1041Y |
probably damaging |
Het |
| Asb5 |
A |
T |
8: 55,038,798 (GRCm39) |
|
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,516 (GRCm39) |
E835V |
probably benign |
Het |
| Ccdc73 |
A |
T |
2: 104,737,972 (GRCm39) |
M23L |
probably benign |
Het |
| Cep170b |
G |
A |
12: 112,702,086 (GRCm39) |
R293H |
probably damaging |
Het |
| Chd8 |
C |
A |
14: 52,448,032 (GRCm39) |
L316F |
probably damaging |
Het |
| Cldn13 |
T |
C |
5: 134,944,114 (GRCm39) |
S24G |
possibly damaging |
Het |
| Cnot10 |
A |
T |
9: 114,460,923 (GRCm39) |
N82K |
probably benign |
Het |
| Colec10 |
G |
A |
15: 54,323,157 (GRCm39) |
V127M |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,478 (GRCm39) |
S130G |
unknown |
Het |
| Ddx60 |
T |
A |
8: 62,435,560 (GRCm39) |
H904Q |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,362 (GRCm39) |
S435T |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,979,974 (GRCm39) |
N177S |
possibly damaging |
Het |
| F5 |
G |
T |
1: 164,021,181 (GRCm39) |
V1219L |
probably benign |
Het |
| Fam47c |
G |
T |
X: 77,781,454 (GRCm39) |
R12L |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,061,350 (GRCm39) |
I4311T |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,041,907 (GRCm39) |
V545A |
probably benign |
Het |
| Fhod3 |
G |
A |
18: 25,153,777 (GRCm39) |
E420K |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,589 (GRCm39) |
K162E |
probably damaging |
Het |
| Insl6 |
C |
A |
19: 29,298,953 (GRCm39) |
S153I |
possibly damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,141,708 (GRCm39) |
Y317C |
probably damaging |
Het |
| Lzts1 |
C |
A |
8: 69,591,759 (GRCm39) |
V130L |
probably benign |
Het |
| Mill1 |
T |
C |
7: 17,998,558 (GRCm39) |
I256T |
possibly damaging |
Het |
| Or6c65 |
A |
G |
10: 129,603,464 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pdia6 |
T |
A |
12: 17,320,542 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
C |
T |
1: 132,999,369 (GRCm39) |
Q406* |
probably null |
Het |
| Pkhd1 |
C |
A |
1: 20,271,248 (GRCm39) |
G3102C |
probably damaging |
Het |
| Polr3b |
T |
A |
10: 84,561,607 (GRCm39) |
I1122N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,653,371 (GRCm39) |
|
probably null |
Het |
| Samhd1 |
A |
G |
2: 156,958,321 (GRCm39) |
I300T |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,662,361 (GRCm39) |
I609F |
unknown |
Het |
| Slc27a3 |
G |
T |
3: 90,293,861 (GRCm39) |
T541K |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Sv2c |
C |
T |
13: 96,224,797 (GRCm39) |
V171M |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,075 (GRCm39) |
V2154A |
probably damaging |
Het |
| Thoc1 |
A |
T |
18: 9,987,158 (GRCm39) |
I433F |
probably benign |
Het |
| Thoc2 |
A |
T |
X: 40,916,223 (GRCm39) |
V865D |
probably benign |
Het |
| Trdn |
C |
A |
10: 33,076,216 (GRCm39) |
P282Q |
probably damaging |
Het |
| Twsg1 |
C |
A |
17: 66,255,699 (GRCm39) |
C25F |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,423,206 (GRCm39) |
I3155N |
probably damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,498,651 (GRCm39) |
Q420L |
probably damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,770,419 (GRCm39) |
R523K |
probably damaging |
Het |
|
| Other mutations in Mycbpap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation