Incidental Mutation 'IGL01351:Pafah1b3'
| ID |
75354 |
| 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 # |
IGL01351
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24994473-24997377 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24994570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 215
(R215C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005578]
[ENSMUST00000005583]
[ENSMUST00000108410]
[ENSMUST00000148150]
[ENSMUST00000155118]
[ENSMUST00000165239]
[ENSMUST00000164820]
[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 |
possibly damaging
Transcript: ENSMUST00000005583
AA Change: R215C
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000005583
Gene: ENSMUSG00000005447
AA Change: R215C
| 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: R163C
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000104048
Gene: ENSMUSG00000005447
AA Change: R163C
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121250
Gene: ENSMUSG00000005447
| 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 |
noncoding transcript
Transcript: ENSMUST00000167379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155118
|
| SMART Domains |
Protein: ENSMUSP00000120379
Gene: ENSMUSG00000005447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase_GDSL_2
|
43 |
149 |
2.2e-12 |
PFAM |
|
| 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: 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: 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: 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: 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,217,565 (GRCm39) |
S336P |
probably benign |
Het |
| Abca9 |
T |
C |
11: 110,039,729 (GRCm39) |
Y428C |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,466,011 (GRCm39) |
Q1165R |
probably damaging |
Het |
| Angel2 |
C |
A |
1: 190,665,310 (GRCm39) |
N80K |
probably benign |
Het |
| Bmp6 |
T |
C |
13: 38,653,610 (GRCm39) |
S226P |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,383,311 (GRCm39) |
T229A |
probably benign |
Het |
| Cdh12 |
G |
A |
15: 21,237,989 (GRCm39) |
V75M |
probably damaging |
Het |
| Cdh6 |
G |
T |
15: 13,034,326 (GRCm39) |
A778E |
possibly damaging |
Het |
| Corin |
A |
T |
5: 72,496,334 (GRCm39) |
C540S |
probably damaging |
Het |
| Cyfip1 |
C |
A |
7: 55,547,991 (GRCm39) |
Y530* |
probably null |
Het |
| Dock10 |
T |
G |
1: 80,570,876 (GRCm39) |
K327N |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,426,840 (GRCm39) |
|
probably benign |
Het |
| E2f8 |
T |
C |
7: 48,516,899 (GRCm39) |
T827A |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,668,136 (GRCm39) |
V305A |
possibly damaging |
Het |
| Fam170a |
T |
C |
18: 50,414,845 (GRCm39) |
W164R |
probably benign |
Het |
| Fbxw14 |
T |
C |
9: 109,103,640 (GRCm39) |
D24G |
possibly damaging |
Het |
| Gnmt |
T |
C |
17: 47,037,606 (GRCm39) |
D124G |
probably benign |
Het |
| Gpx5 |
T |
C |
13: 21,471,669 (GRCm39) |
D178G |
probably damaging |
Het |
| Gsdmd |
T |
A |
15: 75,736,186 (GRCm39) |
I105N |
probably damaging |
Het |
| Hps5 |
C |
T |
7: 46,410,856 (GRCm39) |
M1113I |
probably damaging |
Het |
| Hyal6 |
T |
C |
6: 24,734,178 (GRCm39) |
F37S |
probably damaging |
Het |
| Il17c |
C |
T |
8: 123,148,862 (GRCm39) |
T2I |
probably benign |
Het |
| Lyz1 |
A |
G |
10: 117,127,093 (GRCm39) |
C48R |
probably damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,946 (GRCm39) |
|
probably benign |
Het |
| Psmb4 |
A |
T |
3: 94,793,538 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,373,944 (GRCm39) |
V5009A |
probably benign |
Het |
| Sema6a |
T |
C |
18: 47,414,369 (GRCm39) |
K494E |
possibly damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,491,777 (GRCm39) |
V17A |
probably benign |
Het |
| Speg |
T |
A |
1: 75,387,920 (GRCm39) |
|
probably benign |
Het |
| Spint1 |
A |
G |
2: 119,076,936 (GRCm39) |
D340G |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,186,258 (GRCm39) |
E819G |
probably benign |
Het |
| Tctn3 |
T |
C |
19: 40,596,081 (GRCm39) |
I309V |
probably benign |
Het |
| Tex19.1 |
T |
A |
11: 121,038,072 (GRCm39) |
D143E |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,548 (GRCm39) |
I369V |
probably benign |
Het |
| Tm2d2 |
A |
G |
8: 25,510,573 (GRCm39) |
|
probably benign |
Het |
| Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,196 (GRCm39) |
Y2118C |
probably damaging |
Het |
| Zmynd15 |
C |
A |
11: 70,354,416 (GRCm39) |
N425K |
probably benign |
Het |
|
| Other mutations in Pafah1b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Pafah1b3
|
APN |
7 |
24,995,614 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
2013-10-07 |
Incidental Mutation