Incidental Mutation 'IGL00504:Pafah1b3'
ID |
5302 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pafah1b3
|
Ensembl Gene |
ENSMUSG00000005447 |
Gene Name |
platelet-activating factor acetylhydrolase, isoform 1b, subunit 3 |
Synonyms |
mus[g], Pafahg |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00504
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
24994473-24997377 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24995614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 115
(T115S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120379
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005578]
[ENSMUST00000005583]
[ENSMUST00000108410]
[ENSMUST00000148150]
[ENSMUST00000155118]
[ENSMUST00000164820]
[ENSMUST00000165239]
[ENSMUST00000169266]
[ENSMUST00000163320]
|
AlphaFold |
Q61205 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005578
|
SMART Domains |
Protein: ENSMUSP00000005578 Gene: ENSMUSG00000005442
Domain | Start | End | E-Value | Type |
PDB:4J2L|D
|
21 |
48 |
6e-12 |
PDB |
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
HMG
|
199 |
269 |
1.24e-17 |
SMART |
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
low complexity region
|
525 |
555 |
N/A |
INTRINSIC |
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
low complexity region
|
782 |
803 |
N/A |
INTRINSIC |
low complexity region
|
837 |
859 |
N/A |
INTRINSIC |
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
low complexity region
|
1065 |
1080 |
N/A |
INTRINSIC |
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1155 |
N/A |
INTRINSIC |
low complexity region
|
1223 |
1253 |
N/A |
INTRINSIC |
low complexity region
|
1280 |
1313 |
N/A |
INTRINSIC |
low complexity region
|
1405 |
1418 |
N/A |
INTRINSIC |
low complexity region
|
1483 |
1494 |
N/A |
INTRINSIC |
low complexity region
|
1524 |
1547 |
N/A |
INTRINSIC |
low complexity region
|
1568 |
1603 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000005583
AA Change: T115S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000005583 Gene: ENSMUSG00000005447 AA Change: T115S
Domain | Start | End | E-Value | Type |
Pfam:Lipase_GDSL_2
|
12 |
203 |
3.8e-13 |
PFAM |
Pfam:Lipase_GDSL
|
42 |
209 |
1.2e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108410
AA Change: T63S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000104048 Gene: ENSMUSG00000005447 AA Change: T63S
Domain | Start | End | E-Value | Type |
Pfam:Lipase_GDSL_2
|
4 |
151 |
1.2e-23 |
PFAM |
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140093
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148150
AA Change: T115S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000121250 Gene: ENSMUSG00000005447 AA Change: T115S
Domain | Start | End | E-Value | Type |
Pfam:Lipase_GDSL_2
|
43 |
143 |
5.5e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149634
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155118
AA Change: T115S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000120379 Gene: ENSMUSG00000005447 AA Change: T115S
Domain | Start | End | E-Value | Type |
Pfam:Lipase_GDSL_2
|
43 |
149 |
2.2e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170500
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167379
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164820
|
SMART Domains |
Protein: ENSMUSP00000130146 Gene: ENSMUSG00000005442
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165239
|
SMART Domains |
Protein: ENSMUSP00000128071 Gene: ENSMUSG00000005442
Domain | Start | End | E-Value | Type |
PDB:4J2L|D
|
21 |
48 |
5e-12 |
PDB |
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
HMG
|
199 |
269 |
1.24e-17 |
SMART |
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
low complexity region
|
525 |
555 |
N/A |
INTRINSIC |
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
low complexity region
|
782 |
803 |
N/A |
INTRINSIC |
low complexity region
|
837 |
859 |
N/A |
INTRINSIC |
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
low complexity region
|
1065 |
1080 |
N/A |
INTRINSIC |
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1153 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169266
|
SMART Domains |
Protein: ENSMUSP00000132351 Gene: ENSMUSG00000005442
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
low complexity region
|
33 |
73 |
N/A |
INTRINSIC |
low complexity region
|
151 |
165 |
N/A |
INTRINSIC |
Pfam:DUF4819
|
249 |
346 |
1.8e-23 |
PFAM |
low complexity region
|
351 |
367 |
N/A |
INTRINSIC |
low complexity region
|
403 |
427 |
N/A |
INTRINSIC |
low complexity region
|
445 |
457 |
N/A |
INTRINSIC |
low complexity region
|
462 |
475 |
N/A |
INTRINSIC |
low complexity region
|
618 |
633 |
N/A |
INTRINSIC |
low complexity region
|
673 |
685 |
N/A |
INTRINSIC |
low complexity region
|
724 |
734 |
N/A |
INTRINSIC |
low complexity region
|
740 |
751 |
N/A |
INTRINSIC |
low complexity region
|
779 |
786 |
N/A |
INTRINSIC |
low complexity region
|
858 |
883 |
N/A |
INTRINSIC |
low complexity region
|
898 |
911 |
N/A |
INTRINSIC |
PDB:4J2L|D
|
930 |
955 |
5e-10 |
PDB |
low complexity region
|
1013 |
1027 |
N/A |
INTRINSIC |
low complexity region
|
1031 |
1045 |
N/A |
INTRINSIC |
HMG
|
1106 |
1176 |
1.24e-17 |
SMART |
low complexity region
|
1322 |
1338 |
N/A |
INTRINSIC |
low complexity region
|
1380 |
1393 |
N/A |
INTRINSIC |
low complexity region
|
1415 |
1428 |
N/A |
INTRINSIC |
low complexity region
|
1432 |
1462 |
N/A |
INTRINSIC |
low complexity region
|
1474 |
1490 |
N/A |
INTRINSIC |
low complexity region
|
1552 |
1567 |
N/A |
INTRINSIC |
low complexity region
|
1636 |
1647 |
N/A |
INTRINSIC |
low complexity region
|
1689 |
1710 |
N/A |
INTRINSIC |
low complexity region
|
1744 |
1766 |
N/A |
INTRINSIC |
low complexity region
|
1846 |
1858 |
N/A |
INTRINSIC |
low complexity region
|
1971 |
1986 |
N/A |
INTRINSIC |
low complexity region
|
2024 |
2038 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2061 |
N/A |
INTRINSIC |
low complexity region
|
2129 |
2159 |
N/A |
INTRINSIC |
low complexity region
|
2186 |
2219 |
N/A |
INTRINSIC |
low complexity region
|
2311 |
2324 |
N/A |
INTRINSIC |
low complexity region
|
2389 |
2400 |
N/A |
INTRINSIC |
low complexity region
|
2430 |
2453 |
N/A |
INTRINSIC |
low complexity region
|
2474 |
2509 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163901
|
SMART Domains |
Protein: ENSMUSP00000127858 Gene: ENSMUSG00000005442
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
low complexity region
|
114 |
128 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163320
|
SMART Domains |
Protein: ENSMUSP00000126659 Gene: ENSMUSG00000005442
Domain | Start | End | E-Value | Type |
PDB:4J2L|D
|
21 |
48 |
6e-12 |
PDB |
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
HMG
|
199 |
269 |
1.24e-17 |
SMART |
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
low complexity region
|
525 |
555 |
N/A |
INTRINSIC |
low complexity region
|
567 |
583 |
N/A |
INTRINSIC |
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
low complexity region
|
729 |
740 |
N/A |
INTRINSIC |
low complexity region
|
782 |
803 |
N/A |
INTRINSIC |
low complexity region
|
837 |
859 |
N/A |
INTRINSIC |
low complexity region
|
939 |
951 |
N/A |
INTRINSIC |
low complexity region
|
1064 |
1079 |
N/A |
INTRINSIC |
low complexity region
|
1117 |
1131 |
N/A |
INTRINSIC |
low complexity region
|
1134 |
1154 |
N/A |
INTRINSIC |
low complexity region
|
1222 |
1252 |
N/A |
INTRINSIC |
low complexity region
|
1279 |
1312 |
N/A |
INTRINSIC |
low complexity region
|
1405 |
1418 |
N/A |
INTRINSIC |
low complexity region
|
1483 |
1494 |
N/A |
INTRINSIC |
low complexity region
|
1524 |
1547 |
N/A |
INTRINSIC |
low complexity region
|
1568 |
1603 |
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.] This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] PHENOTYPE: Homozygous null mice of both sexes are viable and fertile. However, in combination with homozygous disruptions in Pafah1b2, males become infertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atpaf2 |
T |
C |
11: 60,296,629 (GRCm39) |
D168G |
probably damaging |
Het |
Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
Cela3b |
A |
T |
4: 137,150,592 (GRCm39) |
V202E |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,386,295 (GRCm39) |
D145G |
probably damaging |
Het |
Cpsf6 |
A |
T |
10: 117,202,034 (GRCm39) |
|
probably benign |
Het |
Dock5 |
A |
G |
14: 68,024,338 (GRCm39) |
|
probably benign |
Het |
Folh1 |
T |
G |
7: 86,383,351 (GRCm39) |
R465S |
probably damaging |
Het |
Garem1 |
T |
A |
18: 21,281,714 (GRCm39) |
Q214L |
probably damaging |
Het |
Ldb2 |
T |
A |
5: 44,699,026 (GRCm39) |
|
probably null |
Het |
Lmln |
A |
G |
16: 32,903,435 (GRCm39) |
N283S |
probably benign |
Het |
Mical2 |
A |
G |
7: 111,981,352 (GRCm39) |
N508S |
possibly damaging |
Het |
Obsl1 |
C |
A |
1: 75,467,518 (GRCm39) |
G1419C |
probably benign |
Het |
Pcdhb5 |
C |
A |
18: 37,455,162 (GRCm39) |
A514E |
probably damaging |
Het |
Prl8a8 |
G |
T |
13: 27,693,593 (GRCm39) |
T144K |
probably damaging |
Het |
Rasgrp1 |
T |
A |
2: 117,136,272 (GRCm39) |
K105* |
probably null |
Het |
Rin1 |
T |
C |
19: 5,102,438 (GRCm39) |
S316P |
probably benign |
Het |
Serpinb3b |
A |
T |
1: 107,085,411 (GRCm39) |
F110Y |
probably benign |
Het |
Sh3bgrl2 |
C |
T |
9: 83,459,607 (GRCm39) |
P55L |
probably benign |
Het |
Slc10a2 |
T |
A |
8: 5,141,668 (GRCm39) |
S239C |
probably damaging |
Het |
Slc10a2 |
C |
A |
8: 5,141,667 (GRCm39) |
S239I |
probably benign |
Het |
Slc6a15 |
T |
C |
10: 103,225,002 (GRCm39) |
V30A |
probably benign |
Het |
Sncaip |
T |
G |
18: 53,018,035 (GRCm39) |
|
probably null |
Het |
Tcerg1l |
T |
C |
7: 137,811,533 (GRCm39) |
R554G |
probably damaging |
Het |
Tfap2b |
A |
G |
1: 19,284,250 (GRCm39) |
S35G |
possibly damaging |
Het |
Tor1a |
A |
G |
2: 30,857,202 (GRCm39) |
I116T |
probably damaging |
Het |
Tprg1l |
A |
G |
4: 154,242,890 (GRCm39) |
S188P |
probably damaging |
Het |
Tut4 |
G |
A |
4: 108,407,925 (GRCm39) |
R1398H |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,839,394 (GRCm39) |
V2050E |
possibly damaging |
Het |
Zfp280d |
T |
C |
9: 72,229,853 (GRCm39) |
C362R |
probably damaging |
Het |
|
Other mutations in Pafah1b3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01351:Pafah1b3
|
APN |
7 |
24,994,570 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01932:Pafah1b3
|
APN |
7 |
24,996,516 (GRCm39) |
missense |
probably benign |
0.02 |
R0626:Pafah1b3
|
UTSW |
7 |
24,996,554 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1426:Pafah1b3
|
UTSW |
7 |
24,996,560 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5056:Pafah1b3
|
UTSW |
7 |
24,994,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R7177:Pafah1b3
|
UTSW |
7 |
24,994,657 (GRCm39) |
missense |
probably benign |
0.06 |
R7367:Pafah1b3
|
UTSW |
7 |
24,995,491 (GRCm39) |
missense |
probably benign |
0.01 |
R9045:Pafah1b3
|
UTSW |
7 |
24,996,898 (GRCm39) |
unclassified |
probably benign |
|
R9381:Pafah1b3
|
UTSW |
7 |
24,994,699 (GRCm39) |
missense |
probably benign |
0.08 |
|
Posted On |
2012-04-20 |