Incidental Mutation 'R5804:Gpaa1'
| ID |
448421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpaa1
|
| Ensembl Gene |
ENSMUSG00000022561 |
| Gene Name |
GPI anchor attachment protein 1 |
| Synonyms |
mGAA1 |
| MMRRC Submission |
043211-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5804 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76215494-76219099 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76216826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 170
(F170S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023221]
[ENSMUST00000059045]
[ENSMUST00000164972]
[ENSMUST00000172281]
[ENSMUST00000170121]
[ENSMUST00000169378]
[ENSMUST00000165279]
[ENSMUST00000230512]
|
| AlphaFold |
Q9WTK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023221
AA Change: F170S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023221
Gene: ENSMUSG00000022561
AA Change: F170S
| 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: ENSMUST00000074205
|
| 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 |
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 |
probably damaging
Transcript: ENSMUST00000172281
AA Change: F110S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132986
Gene: ENSMUSG00000022561
AA Change: F110S
| 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: ENSMUST00000170121
|
| SMART Domains |
Protein: ENSMUSP00000133173
Gene: ENSMUSG00000022561
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169378
|
| SMART Domains |
Protein: ENSMUSP00000128507
Gene: ENSMUSG00000022561
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
32 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000230818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230683
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
T |
16: 8,396,100 (GRCm39) |
R19* |
probably null |
Het |
| Abcb9 |
A |
G |
5: 124,218,118 (GRCm39) |
M406T |
probably benign |
Het |
| Ager |
A |
G |
17: 34,817,157 (GRCm39) |
E32G |
probably damaging |
Het |
| Cdk10 |
T |
A |
8: 123,955,579 (GRCm39) |
|
probably null |
Het |
| Cfap97d1 |
A |
G |
11: 101,881,640 (GRCm39) |
N112S |
probably damaging |
Het |
| Ctsl |
A |
T |
13: 64,514,302 (GRCm39) |
Y259N |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,207,965 (GRCm39) |
|
probably null |
Het |
| Dse |
T |
A |
10: 34,029,375 (GRCm39) |
I572F |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,517,247 (GRCm39) |
|
probably null |
Het |
| Gatm |
T |
A |
2: 122,433,083 (GRCm39) |
Y193F |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,620,155 (GRCm39) |
L363P |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,138,951 (GRCm39) |
P64S |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,026,455 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
C |
10: 14,009,519 (GRCm39) |
K1725N |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,550,098 (GRCm39) |
C2695* |
probably null |
Het |
| Hmgcr |
G |
A |
13: 96,802,695 (GRCm39) |
T68M |
probably damaging |
Het |
| Igsf21 |
A |
T |
4: 139,755,385 (GRCm39) |
D423E |
possibly damaging |
Het |
| Jag1 |
T |
C |
2: 136,930,124 (GRCm39) |
N751S |
probably benign |
Het |
| Klrc2 |
A |
T |
6: 129,637,436 (GRCm39) |
N28K |
possibly damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,727,423 (GRCm39) |
D29V |
possibly damaging |
Het |
| Mtcl1 |
A |
C |
17: 66,650,132 (GRCm39) |
S1329A |
probably benign |
Het |
| Nin |
C |
T |
12: 70,092,375 (GRCm39) |
V645I |
possibly damaging |
Het |
| Or4c127 |
T |
C |
2: 89,833,332 (GRCm39) |
I194T |
possibly damaging |
Het |
| Or51i1 |
T |
C |
7: 103,671,439 (GRCm39) |
I29V |
probably benign |
Het |
| Or8s2 |
T |
A |
15: 98,276,215 (GRCm39) |
M259L |
probably benign |
Het |
| Or9g4 |
T |
A |
2: 85,504,682 (GRCm39) |
D271V |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,407,027 (GRCm39) |
H426L |
probably benign |
Het |
| Poteg |
A |
G |
8: 27,946,826 (GRCm39) |
D238G |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,778,474 (GRCm39) |
F386L |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,380,905 (GRCm39) |
I96F |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,840,077 (GRCm39) |
|
probably null |
Het |
| Slc16a4 |
A |
T |
3: 107,206,280 (GRCm39) |
M117L |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,689,506 (GRCm39) |
N372S |
possibly damaging |
Het |
| Stmn4 |
G |
A |
14: 66,593,748 (GRCm39) |
G47D |
probably benign |
Het |
| Tex26 |
A |
G |
5: 149,386,612 (GRCm39) |
N137S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,747,163 (GRCm39) |
I4629F |
probably benign |
Het |
| Ubash3a |
G |
A |
17: 31,427,206 (GRCm39) |
|
probably null |
Het |
| Ube3d |
T |
C |
9: 86,307,401 (GRCm39) |
I233V |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,297,369 (GRCm39) |
T680S |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,826,640 (GRCm39) |
T2846I |
probably benign |
Het |
| Zbtb22 |
TGGACCCGGGAC |
TGGACCCGGGACCCGGGAC |
17: 34,137,593 (GRCm39) |
|
probably null |
Het |
| Zfp41 |
C |
T |
15: 75,490,557 (GRCm39) |
P170S |
probably damaging |
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 |
|
|
IGL02430:Gpaa1
|
APN |
15 |
76,216,388 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGCTTTCCCATCAACTC -3'
(R):5'- GACCGCGGTTTACTTTGAAAG -3'
Sequencing Primer
(F):5'- CATCAACTCTTTGTGCAGATGG -3'
(R):5'- ACCGCGGTTTACTTTGAAAGAGATG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation