Incidental Mutation 'IGL01733:Pex16'
| ID |
105584 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pex16
|
| Ensembl Gene |
ENSMUSG00000027222 |
| Gene Name |
peroxisomal biogenesis factor 16 |
| Synonyms |
peroxisome biogenesis factor 16 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.411)
|
| Stock # |
IGL01733
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
92205021-92211562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 92209173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 192
(P192S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028650]
[ENSMUST00000050312]
[ENSMUST00000054316]
[ENSMUST00000111279]
[ENSMUST00000111280]
[ENSMUST00000191292]
[ENSMUST00000176339]
|
| AlphaFold |
Q91XC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028650
AA Change: P192S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028650
Gene: ENSMUSG00000027222
AA Change: P192S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pex16
|
9 |
329 |
1.3e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050312
|
| SMART Domains |
Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
477 |
N/A |
INTRINSIC |
|
SH3
|
487 |
544 |
2.62e-11 |
SMART |
|
PTB
|
558 |
700 |
1.2e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054316
|
| SMART Domains |
Protein: ENSMUSP00000051464
Gene: ENSMUSG00000044916
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4733
|
4 |
97 |
7.7e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111279
|
| SMART Domains |
Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
|
SH3
|
478 |
535 |
2.62e-11 |
SMART |
|
PTB
|
549 |
691 |
1.2e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111280
|
| SMART Domains |
Protein: ENSMUSP00000106911
Gene: ENSMUSG00000044916
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154669
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189714
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191292
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176339
|
| SMART Domains |
Protein: ENSMUSP00000135619
Gene: ENSMUSG00000040434
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
| 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 is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
C |
T |
15: 91,075,817 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
G |
4: 40,175,738 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
C |
1: 146,390,541 (GRCm39) |
V29A |
probably benign |
Het |
| Brsk1 |
T |
C |
7: 4,709,071 (GRCm39) |
Y361H |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,157,869 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
A |
G |
8: 93,996,642 (GRCm39) |
I217T |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,586,454 (GRCm39) |
T1856S |
possibly damaging |
Het |
| Cuedc2 |
C |
A |
19: 46,321,112 (GRCm39) |
V7F |
probably damaging |
Het |
| Cyp2d34 |
C |
T |
15: 82,502,861 (GRCm39) |
V122M |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,436,899 (GRCm39) |
S949P |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,220,517 (GRCm39) |
R554W |
probably damaging |
Het |
| Fig4 |
A |
T |
10: 41,153,389 (GRCm39) |
N137K |
possibly damaging |
Het |
| Gpr155 |
C |
T |
2: 73,183,956 (GRCm39) |
|
probably null |
Het |
| Grk6 |
A |
C |
13: 55,599,204 (GRCm39) |
N168T |
possibly damaging |
Het |
| Hfe |
T |
G |
13: 23,890,848 (GRCm39) |
K97T |
possibly damaging |
Het |
| Hsd3b2 |
C |
T |
3: 98,623,801 (GRCm39) |
E26K |
probably damaging |
Het |
| Impg1 |
A |
G |
9: 80,249,206 (GRCm39) |
S666P |
probably damaging |
Het |
| Itpkb |
T |
G |
1: 180,160,734 (GRCm39) |
S287A |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,011,966 (GRCm39) |
D651G |
probably benign |
Het |
| Lemd3 |
C |
T |
10: 120,769,568 (GRCm39) |
W588* |
probably null |
Het |
| Lepr |
A |
G |
4: 101,622,279 (GRCm39) |
T404A |
probably benign |
Het |
| Metap1d |
A |
G |
2: 71,341,777 (GRCm39) |
I124V |
probably damaging |
Het |
| Mrpl33 |
T |
C |
5: 31,779,733 (GRCm39) |
V54A |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,755,935 (GRCm39) |
S205T |
possibly damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,155,622 (GRCm39) |
D877V |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,290,137 (GRCm39) |
V163A |
probably benign |
Het |
| Pakap |
G |
T |
4: 57,856,488 (GRCm39) |
V606L |
probably benign |
Het |
| Ptprq |
C |
A |
10: 107,498,460 (GRCm39) |
M872I |
probably benign |
Het |
| Ripor1 |
C |
T |
8: 106,342,378 (GRCm39) |
R150W |
possibly damaging |
Het |
| Spns2 |
A |
T |
11: 72,347,336 (GRCm39) |
V423E |
possibly damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Stoml3 |
A |
G |
3: 53,405,548 (GRCm39) |
I50V |
probably benign |
Het |
| Taar8c |
A |
G |
10: 23,977,155 (GRCm39) |
I219T |
possibly damaging |
Het |
| Ubap2 |
A |
C |
4: 41,195,862 (GRCm39) |
|
probably benign |
Het |
| Zfat |
T |
C |
15: 68,052,579 (GRCm39) |
D398G |
probably damaging |
Het |
|
| Other mutations in Pex16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Pex16
|
APN |
2 |
92,209,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02642:Pex16
|
APN |
2 |
92,206,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03350:Pex16
|
APN |
2 |
92,207,842 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0143:Pex16
|
UTSW |
2 |
92,210,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Pex16
|
UTSW |
2 |
92,206,032 (GRCm39) |
unclassified |
probably benign |
|
|
R0278:Pex16
|
UTSW |
2 |
92,211,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0375:Pex16
|
UTSW |
2 |
92,210,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Pex16
|
UTSW |
2 |
92,205,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Pex16
|
UTSW |
2 |
92,205,982 (GRCm39) |
nonsense |
probably null |
|
|
R4809:Pex16
|
UTSW |
2 |
92,206,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Pex16
|
UTSW |
2 |
92,209,544 (GRCm39) |
splice site |
probably null |
|
|
R4952:Pex16
|
UTSW |
2 |
92,209,405 (GRCm39) |
nonsense |
probably null |
|
|
R5382:Pex16
|
UTSW |
2 |
92,207,875 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8144:Pex16
|
UTSW |
2 |
92,205,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Pex16
|
UTSW |
2 |
92,209,366 (GRCm39) |
unclassified |
probably benign |
|
|
R9511:Pex16
|
UTSW |
2 |
92,209,559 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9712:Pex16
|
UTSW |
2 |
92,206,988 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-01-21 |
Incidental Mutation