Incidental Mutation 'R5359:Pex11b'
| ID |
424223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex11b
|
| Ensembl Gene |
ENSMUSG00000028102 |
| Gene Name |
peroxisomal biogenesis factor 11 beta |
| Synonyms |
|
| MMRRC Submission |
042938-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5359 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
96542692-96552682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96551229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 224
(C224Y)
|
| 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 damaging
Transcript: ENSMUST00000048766
AA Change: C238Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037962
Gene: ENSMUSG00000028102
AA Change: C238Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX11
|
1 |
251 |
1.9e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118557
AA Change: C238Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113365
Gene: ENSMUSG00000028102
AA Change: C238Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000147821
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165842
AA Change: C224Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126631
Gene: ENSMUSG00000028102
AA Change: C224Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX11
|
3 |
237 |
8.9e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156015
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5b1 |
T |
A |
19: 5,619,126 (GRCm39) |
I182N |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,840,762 (GRCm39) |
C701* |
probably null |
Het |
| Bcr |
T |
A |
10: 75,001,917 (GRCm39) |
F940L |
probably damaging |
Het |
| Cav2 |
A |
T |
6: 17,287,064 (GRCm39) |
|
probably benign |
Het |
| Cdk2 |
T |
C |
10: 128,539,857 (GRCm39) |
|
probably benign |
Het |
| Clic4 |
G |
A |
4: 134,944,446 (GRCm39) |
A243V |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,838,296 (GRCm39) |
V99D |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,497,169 (GRCm39) |
E1110G |
probably damaging |
Het |
| Dhx30 |
T |
C |
9: 109,922,203 (GRCm39) |
N160D |
probably damaging |
Het |
| Dnai7 |
T |
G |
6: 145,142,618 (GRCm39) |
T120P |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,890,472 (GRCm39) |
M268T |
possibly damaging |
Het |
| Dspp |
T |
A |
5: 104,323,752 (GRCm39) |
D298E |
probably damaging |
Het |
| Elane |
A |
G |
10: 79,722,870 (GRCm39) |
E92G |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,211,704 (GRCm39) |
D197E |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,272,164 (GRCm39) |
|
probably null |
Het |
| Gm1968 |
A |
T |
16: 29,777,617 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
T |
A |
8: 111,265,004 (GRCm39) |
V2729E |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,416,707 (GRCm39) |
T106A |
probably benign |
Het |
| Kcnj6 |
G |
C |
16: 94,633,312 (GRCm39) |
Y248* |
probably null |
Het |
| Mllt3 |
A |
G |
4: 87,759,164 (GRCm39) |
S295P |
probably benign |
Het |
| Or2w1b |
A |
C |
13: 21,300,437 (GRCm39) |
T192P |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,599,121 (GRCm39) |
Y79C |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,974,178 (GRCm39) |
Y88C |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,480,354 (GRCm39) |
N99S |
probably benign |
Het |
| Pyroxd1 |
T |
G |
6: 142,307,717 (GRCm39) |
Y496D |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,689,565 (GRCm39) |
L68P |
probably damaging |
Het |
| Rgs13 |
T |
A |
1: 144,015,322 (GRCm39) |
M132L |
probably damaging |
Het |
| RP24-187P11.4 |
T |
G |
9: 109,349,944 (GRCm39) |
|
noncoding transcript |
Het |
| Rsph4a |
A |
G |
10: 33,784,232 (GRCm39) |
T285A |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,606,186 (GRCm39) |
|
probably null |
Het |
| Slc30a1 |
T |
A |
1: 191,641,865 (GRCm39) |
*504R |
probably null |
Het |
| Spcs1 |
T |
C |
14: 30,722,074 (GRCm39) |
R156G |
probably damaging |
Het |
| Supv3l1 |
A |
G |
10: 62,268,178 (GRCm39) |
F556L |
probably damaging |
Het |
| Thumpd2 |
C |
T |
17: 81,334,206 (GRCm39) |
V461M |
probably benign |
Het |
| Timm50 |
A |
G |
7: 28,007,592 (GRCm39) |
L158P |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,649,731 (GRCm39) |
|
silent |
Het |
| Ttn |
G |
A |
2: 76,726,147 (GRCm39) |
Q1807* |
probably null |
Het |
| Zdhhc14 |
A |
G |
17: 5,543,821 (GRCm39) |
I34V |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,394,814 (GRCm39) |
M506K |
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 |
|
|
IGL02319:Pex11b
|
APN |
3 |
96,550,885 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGTCTGCCACAACTG -3'
(R):5'- ATGAAGCCCAACTGCAGAGG -3'
Sequencing Primer
(F):5'- CACAACTGGCTTTGAAGTTTCG -3'
(R):5'- AGGAGCCTTCCCTTAGCACTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation