Incidental Mutation 'IGL02430:Gpaa1'
| ID |
293083 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpaa1
|
| Ensembl Gene |
ENSMUSG00000022561 |
| Gene Name |
GPI anchor attachment protein 1 |
| Synonyms |
mGAA1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76215494-76219099 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76216388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 36
(S36P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023221]
[ENSMUST00000059045]
[ENSMUST00000164972]
[ENSMUST00000165279]
[ENSMUST00000170121]
[ENSMUST00000169378]
[ENSMUST00000172281]
[ENSMUST00000230512]
|
| AlphaFold |
Q9WTK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023221
AA Change: S95P
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000023221
Gene: ENSMUSG00000022561
AA Change: S95P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
81 |
N/A |
INTRINSIC |
|
Pfam:Gaa1
|
125 |
615 |
3.8e-155 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059045
|
| SMART Domains |
Protein: ENSMUSP00000050940
Gene: ENSMUSG00000034259
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_PH
|
21 |
152 |
5.1e-37 |
PFAM |
|
Pfam:RNase_PH_C
|
155 |
220 |
1.9e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164680
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164972
|
| SMART Domains |
Protein: ENSMUSP00000127108
Gene: ENSMUSG00000022561
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165179
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165279
|
| SMART Domains |
Protein: ENSMUSP00000127955
Gene: ENSMUSG00000022562
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydant_A_N
|
9 |
53 |
8.2e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170121
AA Change: S36P
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133173
Gene: ENSMUSG00000022561
AA Change: S36P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169378
AA Change: S46P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128507
Gene: ENSMUSG00000022561
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
32 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172281
AA Change: S35P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000132986
Gene: ENSMUSG00000022561
AA Change: S35P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Gaa1
|
64 |
560 |
3e-205 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167515
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168948
|
| SMART Domains |
Protein: ENSMUSP00000126326
Gene: ENSMUSG00000022561
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gaa1
|
1 |
129 |
1.9e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230818
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap33 |
T |
C |
7: 30,222,185 (GRCm39) |
E1249G |
probably benign |
Het |
| C8a |
G |
A |
4: 104,674,719 (GRCm39) |
T540I |
probably damaging |
Het |
| Clcnkb |
C |
A |
4: 141,136,701 (GRCm39) |
W388L |
possibly damaging |
Het |
| Cnbp |
A |
T |
6: 87,822,160 (GRCm39) |
Y114* |
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,710,530 (GRCm39) |
V337A |
probably benign |
Het |
| Cyp2e1 |
A |
G |
7: 140,350,139 (GRCm39) |
K275E |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,178 (GRCm39) |
V414A |
probably benign |
Het |
| Ebf1 |
G |
A |
11: 44,815,403 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
C |
T |
17: 37,367,200 (GRCm39) |
R198* |
probably null |
Het |
| Hipk1 |
A |
G |
3: 103,667,971 (GRCm39) |
V532A |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,266,469 (GRCm39) |
C217S |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
| Ltbp2 |
T |
A |
12: 84,846,175 (GRCm39) |
Y925F |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,027,797 (GRCm39) |
I871V |
probably benign |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,409 (GRCm39) |
S168P |
possibly damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,608 (GRCm39) |
I211V |
probably benign |
Het |
| Or5p70 |
A |
T |
7: 107,994,929 (GRCm39) |
I201F |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,966,096 (GRCm39) |
N754K |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,470,810 (GRCm39) |
M442K |
probably benign |
Het |
| Pole3 |
T |
C |
4: 62,443,056 (GRCm39) |
N28S |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,767,477 (GRCm39) |
Y242C |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,325,477 (GRCm39) |
K4E |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,266,735 (GRCm39) |
T774S |
probably benign |
Het |
| Selp |
C |
A |
1: 163,953,952 (GRCm39) |
P84Q |
probably damaging |
Het |
| Sh3bp4 |
T |
A |
1: 89,080,885 (GRCm39) |
W901R |
probably null |
Het |
| Slc6a20b |
A |
G |
9: 123,426,305 (GRCm39) |
Y527H |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,068,601 (GRCm39) |
|
probably null |
Het |
| Spidr |
C |
T |
16: 15,932,774 (GRCm39) |
D169N |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,630 (GRCm39) |
L183P |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,817,143 (GRCm39) |
T233I |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,856,667 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,464,634 (GRCm39) |
I231N |
probably damaging |
Het |
| Ubl3 |
A |
T |
5: 148,488,766 (GRCm39) |
D8E |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,150,295 (GRCm39) |
I465M |
probably damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,499,158 (GRCm39) |
I251T |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,172,085 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,238,140 (GRCm39) |
Y195H |
probably damaging |
Het |
| Wdr27 |
A |
C |
17: 15,122,062 (GRCm39) |
S615A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,245,792 (GRCm39) |
L114H |
possibly damaging |
Het |
| Zfp523 |
T |
C |
17: 28,414,113 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gpaa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01869:Gpaa1
|
APN |
15 |
76,217,198 (GRCm39) |
missense |
probably benign |
|
|
IGL02040:Gpaa1
|
APN |
15 |
76,218,495 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02162:Gpaa1
|
APN |
15 |
76,216,353 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02951:Gpaa1
|
APN |
15 |
76,217,019 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4466001:Gpaa1
|
UTSW |
15 |
76,218,940 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4472001:Gpaa1
|
UTSW |
15 |
76,218,940 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0137:Gpaa1
|
UTSW |
15 |
76,218,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Gpaa1
|
UTSW |
15 |
76,216,233 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0760:Gpaa1
|
UTSW |
15 |
76,216,119 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1681:Gpaa1
|
UTSW |
15 |
76,215,653 (GRCm39) |
missense |
probably benign |
|
|
R1691:Gpaa1
|
UTSW |
15 |
76,216,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2124:Gpaa1
|
UTSW |
15 |
76,217,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4165:Gpaa1
|
UTSW |
15 |
76,216,667 (GRCm39) |
unclassified |
probably benign |
|
|
R4166:Gpaa1
|
UTSW |
15 |
76,216,667 (GRCm39) |
unclassified |
probably benign |
|
|
R4775:Gpaa1
|
UTSW |
15 |
76,218,891 (GRCm39) |
splice site |
probably null |
|
|
R4844:Gpaa1
|
UTSW |
15 |
76,216,508 (GRCm39) |
unclassified |
probably benign |
|
|
R5007:Gpaa1
|
UTSW |
15 |
76,215,868 (GRCm39) |
nonsense |
probably null |
|
|
R5331:Gpaa1
|
UTSW |
15 |
76,216,511 (GRCm39) |
unclassified |
probably benign |
|
|
R5804:Gpaa1
|
UTSW |
15 |
76,216,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Gpaa1
|
UTSW |
15 |
76,216,471 (GRCm39) |
unclassified |
probably benign |
|
|
R6221:Gpaa1
|
UTSW |
15 |
76,218,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7408:Gpaa1
|
UTSW |
15 |
76,217,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8255:Gpaa1
|
UTSW |
15 |
76,217,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8309:Gpaa1
|
UTSW |
15 |
76,216,160 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9376:Gpaa1
|
UTSW |
15 |
76,218,826 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9402:Gpaa1
|
UTSW |
15 |
76,216,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Gpaa1
|
UTSW |
15 |
76,216,742 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2015-04-16 |
Incidental Mutation