Incidental Mutation 'R1953:Pex1'
ID |
217454 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pex1
|
Ensembl Gene |
ENSMUSG00000005907 |
Gene Name |
peroxisomal biogenesis factor 1 |
Synonyms |
peroxisome biogenesis factor 1, 5430414H02Rik, E330005K07Rik, ZWS1 |
MMRRC Submission |
039967-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R1953 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3680038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 952
(H952R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000140871]
|
AlphaFold |
Q5BL07 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006061
AA Change: H912R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907 AA Change: H912R
Domain | Start | End | E-Value | Type |
Pfam:PEX-2N
|
14 |
99 |
2.4e-53 |
PFAM |
Pfam:PEX-1N
|
103 |
179 |
8.6e-27 |
PFAM |
low complexity region
|
508 |
527 |
N/A |
INTRINSIC |
AAA
|
552 |
702 |
1.39e-10 |
SMART |
low complexity region
|
754 |
765 |
N/A |
INTRINSIC |
AAA
|
834 |
970 |
4.07e-17 |
SMART |
low complexity region
|
1024 |
1044 |
N/A |
INTRINSIC |
low complexity region
|
1051 |
1061 |
N/A |
INTRINSIC |
low complexity region
|
1065 |
1078 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121291
AA Change: H952R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907 AA Change: H952R
Domain | Start | End | E-Value | Type |
Pfam:PEX-2N
|
17 |
98 |
8.7e-38 |
PFAM |
Pfam:PEX-1N
|
104 |
179 |
1.4e-27 |
PFAM |
low complexity region
|
548 |
567 |
N/A |
INTRINSIC |
AAA
|
592 |
742 |
1.39e-10 |
SMART |
low complexity region
|
794 |
805 |
N/A |
INTRINSIC |
AAA
|
874 |
1010 |
4.07e-17 |
SMART |
low complexity region
|
1064 |
1084 |
N/A |
INTRINSIC |
low complexity region
|
1091 |
1101 |
N/A |
INTRINSIC |
low complexity region
|
1105 |
1118 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140871
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196692
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199632
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199650
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013] PHENOTYPE: Mice homozygous for a knock-in allele display premature death, postnatal growth retardation, fatty livers, a bile acid defect associated with intestinal lipid malabsorption and cholestasis, and a retinopathy associated with retinal cone cell degenerationand abnormal cone and rod electrophysiology. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted, other(2) Gene trapped(2)
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
A |
T |
11: 80,268,772 (GRCm39) |
D12E |
probably damaging |
Het |
Abca15 |
C |
T |
7: 119,960,655 (GRCm39) |
R706C |
probably damaging |
Het |
Actr1a |
G |
A |
19: 46,369,387 (GRCm39) |
S209F |
probably benign |
Het |
Adcy1 |
A |
G |
11: 7,028,991 (GRCm39) |
N247S |
probably benign |
Het |
Anapc4 |
T |
C |
5: 52,997,030 (GRCm39) |
L101S |
probably damaging |
Het |
Asap3 |
C |
T |
4: 135,954,767 (GRCm39) |
R60* |
probably null |
Het |
Ascc3 |
T |
C |
10: 50,721,726 (GRCm39) |
S2060P |
probably benign |
Het |
Atp9b |
G |
A |
18: 80,797,522 (GRCm39) |
T851I |
possibly damaging |
Het |
Borcs5 |
A |
G |
6: 134,687,230 (GRCm39) |
H196R |
unknown |
Het |
Bpifb9b |
A |
C |
2: 154,153,234 (GRCm39) |
D100A |
probably damaging |
Het |
Cant1 |
G |
C |
11: 118,299,609 (GRCm39) |
P247A |
probably damaging |
Het |
Capza3 |
A |
T |
6: 139,988,294 (GRCm39) |
I298L |
possibly damaging |
Het |
Cdh10 |
T |
C |
15: 18,966,997 (GRCm39) |
|
probably null |
Het |
Celsr3 |
T |
C |
9: 108,720,381 (GRCm39) |
V2551A |
probably benign |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Cmtr2 |
T |
C |
8: 110,948,551 (GRCm39) |
L287P |
probably damaging |
Het |
Crebbp |
G |
A |
16: 3,997,313 (GRCm39) |
T257I |
probably benign |
Het |
Crispld2 |
G |
A |
8: 120,742,035 (GRCm39) |
V128M |
probably damaging |
Het |
Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,859,332 (GRCm39) |
T2043A |
probably benign |
Het |
Dscaml1 |
C |
T |
9: 45,581,522 (GRCm39) |
T447I |
probably benign |
Het |
Eif2ak3 |
A |
G |
6: 70,869,538 (GRCm39) |
T742A |
probably benign |
Het |
Farp1 |
A |
G |
14: 121,492,894 (GRCm39) |
T499A |
probably benign |
Het |
Fcgr1 |
G |
A |
3: 96,194,386 (GRCm39) |
T167I |
probably damaging |
Het |
Fgd5 |
C |
A |
6: 92,001,611 (GRCm39) |
H935Q |
probably benign |
Het |
Fhl4 |
A |
T |
10: 84,934,171 (GRCm39) |
D203E |
probably benign |
Het |
Gapt |
T |
G |
13: 110,490,340 (GRCm39) |
T108P |
probably damaging |
Het |
Gpt2 |
A |
G |
8: 86,248,013 (GRCm39) |
T419A |
probably benign |
Het |
Gucy2c |
A |
G |
6: 136,681,291 (GRCm39) |
V907A |
probably damaging |
Het |
Hmbs |
T |
C |
9: 44,248,741 (GRCm39) |
D211G |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,086,438 (GRCm39) |
N174D |
probably damaging |
Het |
Itfg1 |
A |
G |
8: 86,557,860 (GRCm39) |
V170A |
probably benign |
Het |
Itga2b |
T |
A |
11: 102,349,009 (GRCm39) |
T732S |
probably benign |
Het |
Klhl3 |
A |
G |
13: 58,159,022 (GRCm39) |
Y546H |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,832,540 (GRCm39) |
H1670Y |
possibly damaging |
Het |
Mlst8 |
AT |
ATT |
17: 24,696,987 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
T |
C |
1: 60,273,999 (GRCm39) |
V409A |
probably damaging |
Het |
Nlgn1 |
T |
A |
3: 25,490,464 (GRCm39) |
D421V |
probably damaging |
Het |
Nlrp10 |
T |
C |
7: 108,524,325 (GRCm39) |
D385G |
probably benign |
Het |
Nr2e3 |
T |
A |
9: 59,857,079 (GRCm39) |
D30V |
probably benign |
Het |
Nyap1 |
A |
G |
5: 137,733,294 (GRCm39) |
S580P |
probably benign |
Het |
Or4c108 |
G |
A |
2: 88,804,224 (GRCm39) |
Q4* |
probably null |
Het |
Or4c12 |
A |
G |
2: 89,774,267 (GRCm39) |
L64P |
probably damaging |
Het |
Or4e2 |
T |
A |
14: 52,688,344 (GRCm39) |
V158E |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,410,849 (GRCm39) |
I1061F |
possibly damaging |
Het |
Pnkp |
C |
A |
7: 44,512,026 (GRCm39) |
R517S |
probably benign |
Het |
Polr2e |
T |
A |
10: 79,874,388 (GRCm39) |
E39D |
probably benign |
Het |
Pramel18 |
T |
C |
4: 101,767,312 (GRCm39) |
I187T |
probably benign |
Het |
Prokr1 |
T |
C |
6: 87,565,575 (GRCm39) |
Y90C |
probably benign |
Het |
Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
Rere |
G |
A |
4: 150,701,294 (GRCm39) |
E1225K |
probably damaging |
Het |
Rsl24d1 |
G |
T |
9: 73,021,896 (GRCm39) |
|
probably benign |
Het |
Selp |
A |
G |
1: 163,954,081 (GRCm39) |
N127S |
probably benign |
Het |
Slc22a18 |
C |
T |
7: 143,029,984 (GRCm39) |
T17I |
probably damaging |
Het |
Smad2 |
A |
G |
18: 76,395,776 (GRCm39) |
T72A |
possibly damaging |
Het |
Snx29 |
G |
A |
16: 11,217,647 (GRCm39) |
W149* |
probably null |
Het |
Stk31 |
G |
T |
6: 49,423,412 (GRCm39) |
|
probably null |
Het |
Sult1e1 |
T |
G |
5: 87,735,530 (GRCm39) |
|
probably null |
Het |
Syngap1 |
G |
A |
17: 27,163,661 (GRCm39) |
R41H |
possibly damaging |
Het |
Tbc1d17 |
T |
A |
7: 44,490,822 (GRCm39) |
|
probably null |
Het |
Tex55 |
G |
T |
16: 38,648,275 (GRCm39) |
T278K |
possibly damaging |
Het |
Tie1 |
A |
T |
4: 118,329,987 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Usp47 |
T |
A |
7: 111,692,083 (GRCm39) |
D848E |
probably benign |
Het |
Vmn1r72 |
A |
G |
7: 11,403,731 (GRCm39) |
L239P |
probably damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,283,122 (GRCm39) |
I272T |
probably benign |
Het |
Vwa1 |
C |
T |
4: 155,857,571 (GRCm39) |
V76M |
probably damaging |
Het |
Xrn1 |
G |
T |
9: 95,906,274 (GRCm39) |
|
probably null |
Het |
Zfp667 |
G |
T |
7: 6,308,087 (GRCm39) |
V252F |
probably benign |
Het |
Zranb3 |
A |
T |
1: 127,927,136 (GRCm39) |
V343D |
probably damaging |
Het |
|
Other mutations in Pex1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01287:Pex1
|
APN |
5 |
3,656,027 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01315:Pex1
|
APN |
5 |
3,659,975 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01671:Pex1
|
APN |
5 |
3,674,088 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01863:Pex1
|
APN |
5 |
3,656,066 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01933:Pex1
|
APN |
5 |
3,683,789 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01960:Pex1
|
APN |
5 |
3,677,588 (GRCm39) |
unclassified |
probably benign |
|
IGL02347:Pex1
|
APN |
5 |
3,653,350 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02374:Pex1
|
APN |
5 |
3,685,481 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02392:Pex1
|
APN |
5 |
3,655,952 (GRCm39) |
nonsense |
probably null |
|
IGL02597:Pex1
|
APN |
5 |
3,685,865 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02703:Pex1
|
APN |
5 |
3,665,120 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02815:Pex1
|
APN |
5 |
3,686,797 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02862:Pex1
|
APN |
5 |
3,655,424 (GRCm39) |
intron |
probably benign |
|
IGL03005:Pex1
|
APN |
5 |
3,680,292 (GRCm39) |
missense |
probably null |
0.96 |
E0370:Pex1
|
UTSW |
5 |
3,681,614 (GRCm39) |
splice site |
probably null |
|
F5493:Pex1
|
UTSW |
5 |
3,685,912 (GRCm39) |
critical splice donor site |
probably null |
|
R0014:Pex1
|
UTSW |
5 |
3,676,141 (GRCm39) |
unclassified |
probably benign |
|
R0014:Pex1
|
UTSW |
5 |
3,676,141 (GRCm39) |
unclassified |
probably benign |
|
R0401:Pex1
|
UTSW |
5 |
3,683,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R0480:Pex1
|
UTSW |
5 |
3,656,444 (GRCm39) |
splice site |
probably null |
|
R0555:Pex1
|
UTSW |
5 |
3,656,130 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0976:Pex1
|
UTSW |
5 |
3,683,943 (GRCm39) |
missense |
probably benign |
0.00 |
R1200:Pex1
|
UTSW |
5 |
3,656,411 (GRCm39) |
critical splice donor site |
probably null |
|
R1672:Pex1
|
UTSW |
5 |
3,676,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R1753:Pex1
|
UTSW |
5 |
3,680,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R1880:Pex1
|
UTSW |
5 |
3,655,770 (GRCm39) |
missense |
probably benign |
|
R2054:Pex1
|
UTSW |
5 |
3,653,341 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2081:Pex1
|
UTSW |
5 |
3,674,132 (GRCm39) |
critical splice donor site |
probably null |
|
R2237:Pex1
|
UTSW |
5 |
3,668,915 (GRCm39) |
critical splice donor site |
probably null |
|
R3946:Pex1
|
UTSW |
5 |
3,676,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R4528:Pex1
|
UTSW |
5 |
3,681,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R4579:Pex1
|
UTSW |
5 |
3,668,880 (GRCm39) |
missense |
probably benign |
0.03 |
R4585:Pex1
|
UTSW |
5 |
3,683,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R4586:Pex1
|
UTSW |
5 |
3,683,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R4656:Pex1
|
UTSW |
5 |
3,654,880 (GRCm39) |
critical splice donor site |
probably null |
|
R4789:Pex1
|
UTSW |
5 |
3,680,270 (GRCm39) |
missense |
probably damaging |
0.98 |
R4850:Pex1
|
UTSW |
5 |
3,674,426 (GRCm39) |
missense |
probably benign |
|
R4963:Pex1
|
UTSW |
5 |
3,659,924 (GRCm39) |
missense |
probably benign |
0.01 |
R5005:Pex1
|
UTSW |
5 |
3,672,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R5015:Pex1
|
UTSW |
5 |
3,670,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R5019:Pex1
|
UTSW |
5 |
3,672,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R5937:Pex1
|
UTSW |
5 |
3,674,487 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5942:Pex1
|
UTSW |
5 |
3,660,277 (GRCm39) |
missense |
probably benign |
0.04 |
R5995:Pex1
|
UTSW |
5 |
3,657,704 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6434:Pex1
|
UTSW |
5 |
3,680,196 (GRCm39) |
nonsense |
probably null |
|
R6552:Pex1
|
UTSW |
5 |
3,673,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R6777:Pex1
|
UTSW |
5 |
3,672,358 (GRCm39) |
missense |
probably benign |
0.01 |
R6877:Pex1
|
UTSW |
5 |
3,685,505 (GRCm39) |
missense |
probably benign |
0.19 |
R6948:Pex1
|
UTSW |
5 |
3,655,994 (GRCm39) |
missense |
probably benign |
0.00 |
R7317:Pex1
|
UTSW |
5 |
3,668,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R7408:Pex1
|
UTSW |
5 |
3,680,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R7658:Pex1
|
UTSW |
5 |
3,646,244 (GRCm39) |
unclassified |
probably benign |
|
R8062:Pex1
|
UTSW |
5 |
3,655,656 (GRCm39) |
missense |
probably benign |
|
R8354:Pex1
|
UTSW |
5 |
3,681,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R8366:Pex1
|
UTSW |
5 |
3,676,007 (GRCm39) |
missense |
probably benign |
0.00 |
R8482:Pex1
|
UTSW |
5 |
3,662,923 (GRCm39) |
missense |
probably benign |
0.00 |
R8673:Pex1
|
UTSW |
5 |
3,685,886 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8812:Pex1
|
UTSW |
5 |
3,681,614 (GRCm39) |
missense |
probably benign |
0.00 |
R9004:Pex1
|
UTSW |
5 |
3,662,914 (GRCm39) |
missense |
probably benign |
0.01 |
R9031:Pex1
|
UTSW |
5 |
3,686,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R9080:Pex1
|
UTSW |
5 |
3,655,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R9586:Pex1
|
UTSW |
5 |
3,676,047 (GRCm39) |
missense |
probably damaging |
0.98 |
R9655:Pex1
|
UTSW |
5 |
3,655,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R9758:Pex1
|
UTSW |
5 |
3,685,876 (GRCm39) |
missense |
probably damaging |
0.96 |
X0019:Pex1
|
UTSW |
5 |
3,655,653 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Pex1
|
UTSW |
5 |
3,680,270 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1088:Pex1
|
UTSW |
5 |
3,656,075 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCAAGAATTGGTTTAGACAGGAAG -3'
(R):5'- ATTTATCCAGTCTGCCAGGCC -3'
Sequencing Primer
(F):5'- GCATGTAATTTGCTTATGTACACAC -3'
(R):5'- TCGATCAAGTCAGGGCGAC -3'
|
Posted On |
2014-08-01 |