Incidental Mutation 'IGL02319:Pex11b'
ID |
288183 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pex11b
|
Ensembl Gene |
ENSMUSG00000028102 |
Gene Name |
peroxisomal biogenesis factor 11 beta |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02319
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
96542692-96552682 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 96550885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126631
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029744]
[ENSMUST00000048766]
[ENSMUST00000118557]
[ENSMUST00000119365]
[ENSMUST00000137564]
[ENSMUST00000165842]
[ENSMUST00000156015]
|
AlphaFold |
Q9Z210 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029744
|
SMART Domains |
Protein: ENSMUSP00000029744 Gene: ENSMUSG00000090210
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Int_alpha
|
37 |
93 |
9.03e-3 |
SMART |
VWA
|
165 |
355 |
9.6e-43 |
SMART |
Int_alpha
|
427 |
481 |
2.01e0 |
SMART |
Int_alpha
|
482 |
539 |
5.14e-7 |
SMART |
Int_alpha
|
545 |
600 |
5.34e-14 |
SMART |
Int_alpha
|
607 |
652 |
8.75e0 |
SMART |
transmembrane domain
|
1123 |
1145 |
N/A |
INTRINSIC |
low complexity region
|
1153 |
1166 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000048766
|
SMART Domains |
Protein: ENSMUSP00000037962 Gene: ENSMUSG00000028102
Domain | Start | End | E-Value | Type |
Pfam:PEX11
|
1 |
251 |
1.9e-76 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118557
|
SMART Domains |
Protein: ENSMUSP00000113365 Gene: ENSMUSG00000028102
Domain | Start | End | E-Value | Type |
Pfam:PEX11
|
1 |
251 |
8.3e-77 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119365
|
SMART Domains |
Protein: ENSMUSP00000112393 Gene: ENSMUSG00000090210
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Int_alpha
|
37 |
93 |
9.03e-3 |
SMART |
VWA
|
165 |
355 |
9.6e-43 |
SMART |
Int_alpha
|
427 |
481 |
2.01e0 |
SMART |
Int_alpha
|
482 |
539 |
5.14e-7 |
SMART |
Int_alpha
|
545 |
600 |
5.34e-14 |
SMART |
Int_alpha
|
607 |
652 |
8.75e0 |
SMART |
transmembrane domain
|
1122 |
1144 |
N/A |
INTRINSIC |
low complexity region
|
1152 |
1165 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137564
|
SMART Domains |
Protein: ENSMUSP00000121011 Gene: ENSMUSG00000106447
Domain | Start | End | E-Value | Type |
Pfam:PEX11
|
1 |
172 |
4.5e-57 |
PFAM |
low complexity region
|
186 |
204 |
N/A |
INTRINSIC |
Int_alpha
|
222 |
278 |
9.03e-3 |
SMART |
Blast:VWA
|
292 |
345 |
3e-7 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144962
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165842
|
SMART Domains |
Protein: ENSMUSP00000126631 Gene: ENSMUSG00000028102
Domain | Start | End | E-Value | Type |
Pfam:PEX11
|
3 |
237 |
8.9e-69 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147821
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156015
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012] PHENOTYPE: Mice homozygous for disruptions in this gene die within the first day of life. Various abnormalities develop as a result of peroxisomal abnormalities. The condition is similar to Zellweger Syndrome. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
T |
C |
10: 106,784,611 (GRCm39) |
Y537C |
probably damaging |
Het |
Ambra1 |
A |
G |
2: 91,717,265 (GRCm39) |
H854R |
probably damaging |
Het |
Atf7ip |
A |
G |
6: 136,570,116 (GRCm39) |
N981S |
probably benign |
Het |
Atp6v1d |
A |
G |
12: 78,908,230 (GRCm39) |
S2P |
probably damaging |
Het |
Cd59a |
A |
T |
2: 103,944,373 (GRCm39) |
I74F |
possibly damaging |
Het |
Chek2 |
T |
C |
5: 111,014,877 (GRCm39) |
Y449H |
possibly damaging |
Het |
Ctif |
C |
T |
18: 75,654,944 (GRCm39) |
|
probably benign |
Het |
Dnaaf3 |
T |
C |
7: 4,526,946 (GRCm39) |
E403G |
probably damaging |
Het |
Dock1 |
T |
G |
7: 134,374,178 (GRCm39) |
V608G |
possibly damaging |
Het |
Fcf1 |
T |
C |
12: 85,017,982 (GRCm39) |
|
probably null |
Het |
Fgf17 |
T |
G |
14: 70,874,183 (GRCm39) |
Q202P |
possibly damaging |
Het |
Hnrnpm |
A |
T |
17: 33,868,924 (GRCm39) |
L501Q |
probably damaging |
Het |
Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
Klra6 |
A |
T |
6: 130,002,177 (GRCm39) |
S2R |
probably damaging |
Het |
Krtap19-9b |
T |
A |
16: 88,729,002 (GRCm39) |
Y33F |
unknown |
Het |
Lpcat4 |
G |
A |
2: 112,074,229 (GRCm39) |
V264M |
probably damaging |
Het |
Lyzl6 |
T |
C |
11: 103,525,862 (GRCm39) |
Y86C |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,939,005 (GRCm39) |
K1669E |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,893,159 (GRCm39) |
V1558A |
probably damaging |
Het |
Or51a42 |
A |
G |
7: 103,708,140 (GRCm39) |
I223T |
probably damaging |
Het |
Or51l14 |
G |
A |
7: 103,101,474 (GRCm39) |
C310Y |
probably benign |
Het |
Or5b105 |
A |
G |
19: 13,080,026 (GRCm39) |
I214T |
probably benign |
Het |
Or8b47 |
T |
A |
9: 38,435,166 (GRCm39) |
I46N |
probably damaging |
Het |
Rbm5 |
A |
T |
9: 107,621,064 (GRCm39) |
L689* |
probably null |
Het |
Rd3 |
G |
T |
1: 191,715,452 (GRCm39) |
G76C |
probably null |
Het |
Rgs16 |
A |
T |
1: 153,617,852 (GRCm39) |
I121F |
probably damaging |
Het |
Tmem30a |
A |
T |
9: 79,681,485 (GRCm39) |
M264K |
probably damaging |
Het |
Traf2 |
T |
C |
2: 25,426,695 (GRCm39) |
E127G |
probably damaging |
Het |
Trmt11 |
A |
T |
10: 30,436,869 (GRCm39) |
D290E |
probably damaging |
Het |
Wdr35 |
C |
A |
12: 9,077,480 (GRCm39) |
|
probably benign |
Het |
Wnk2 |
A |
G |
13: 49,214,914 (GRCm39) |
S1211P |
possibly damaging |
Het |
|
Other mutations in Pex11b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01874:Pex11b
|
APN |
3 |
96,550,883 (GRCm39) |
splice site |
probably null |
|
R2061:Pex11b
|
UTSW |
3 |
96,543,037 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4569:Pex11b
|
UTSW |
3 |
96,551,330 (GRCm39) |
utr 3 prime |
probably benign |
|
R4664:Pex11b
|
UTSW |
3 |
96,551,151 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4665:Pex11b
|
UTSW |
3 |
96,551,151 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5359:Pex11b
|
UTSW |
3 |
96,551,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R7367:Pex11b
|
UTSW |
3 |
96,543,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R7617:Pex11b
|
UTSW |
3 |
96,544,107 (GRCm39) |
critical splice donor site |
probably null |
|
R8176:Pex11b
|
UTSW |
3 |
96,551,027 (GRCm39) |
missense |
probably benign |
0.00 |
R9136:Pex11b
|
UTSW |
3 |
96,551,259 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Pex11b
|
UTSW |
3 |
96,544,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |