Incidental Mutation 'R8255:Gpaa1'
ID |
640626 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpaa1
|
Ensembl Gene |
ENSMUSG00000022561 |
Gene Name |
GPI anchor attachment protein 1 |
Synonyms |
mGAA1 |
MMRRC Submission |
067681-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8255 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76215494-76219099 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76217438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 292
(L292P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023221
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023221]
[ENSMUST00000059045]
[ENSMUST00000164972]
[ENSMUST00000169378]
[ENSMUST00000170121]
[ENSMUST00000172281]
|
AlphaFold |
Q9WTK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023221
AA Change: L292P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000023221 Gene: ENSMUSG00000022561 AA Change: L292P
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 |
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 |
silent
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 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: ENSMUST00000170121
|
SMART Domains |
Protein: ENSMUSP00000133173 Gene: ENSMUSG00000022561
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
22 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172281
AA Change: L232P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000132986 Gene: ENSMUSG00000022561 AA Change: L232P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:Gaa1
|
64 |
560 |
3e-205 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (46/46) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,415,850 (GRCm39) |
T648S |
possibly damaging |
Het |
Abca12 |
T |
A |
1: 71,359,058 (GRCm39) |
I583F |
probably benign |
Het |
Abca4 |
A |
T |
3: 121,948,926 (GRCm39) |
M1732L |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,740,398 (GRCm39) |
S1742P |
unknown |
Het |
Birc6 |
G |
A |
17: 74,969,775 (GRCm39) |
A4273T |
probably damaging |
Het |
Chd5 |
A |
G |
4: 152,463,880 (GRCm39) |
T1450A |
probably damaging |
Het |
Dhx32 |
T |
C |
7: 133,339,120 (GRCm39) |
N305S |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,698,589 (GRCm39) |
S2174P |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,161,101 (GRCm39) |
I3210F |
probably benign |
Het |
Gm12888 |
A |
G |
4: 121,181,994 (GRCm39) |
S33P |
probably damaging |
Het |
Gzmg |
T |
A |
14: 56,395,753 (GRCm39) |
R69W |
probably damaging |
Het |
Hat1 |
A |
G |
2: 71,239,347 (GRCm39) |
D40G |
probably damaging |
Het |
Hcrtr2 |
T |
A |
9: 76,140,203 (GRCm39) |
I362F |
probably damaging |
Het |
Hmmr |
T |
C |
11: 40,598,262 (GRCm39) |
E650G |
probably damaging |
Het |
Ifi35 |
A |
T |
11: 101,348,608 (GRCm39) |
M180L |
probably benign |
Het |
Ifi44 |
A |
T |
3: 151,451,619 (GRCm39) |
H162Q |
probably benign |
Het |
Il1rl2 |
T |
C |
1: 40,404,471 (GRCm39) |
F531L |
probably damaging |
Het |
Ipcef1 |
T |
G |
10: 6,870,007 (GRCm39) |
K182T |
probably benign |
Het |
Med27 |
C |
A |
2: 29,414,376 (GRCm39) |
|
probably null |
Het |
Med31 |
G |
A |
11: 72,106,294 (GRCm39) |
|
probably benign |
Het |
Moxd1 |
A |
G |
10: 24,099,700 (GRCm39) |
T67A |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,985,848 (GRCm39) |
E1266G |
probably damaging |
Het |
Nkx2-4 |
C |
A |
2: 146,925,924 (GRCm39) |
E313* |
probably null |
Het |
Nol6 |
G |
T |
4: 41,120,168 (GRCm39) |
R487S |
probably benign |
Het |
Or2v1 |
C |
A |
11: 49,025,307 (GRCm39) |
A96D |
probably benign |
Het |
Or2z8 |
T |
A |
8: 72,811,607 (GRCm39) |
F28I |
possibly damaging |
Het |
Or4k15c |
C |
T |
14: 50,321,329 (GRCm39) |
V270I |
noncoding transcript |
Het |
Or5p51 |
A |
G |
7: 107,444,368 (GRCm39) |
S191P |
probably damaging |
Het |
Rnf135 |
A |
G |
11: 80,084,713 (GRCm39) |
D162G |
probably benign |
Het |
Sdr42e1 |
G |
T |
8: 118,390,502 (GRCm39) |
N46K |
probably benign |
Het |
Skor2 |
T |
C |
18: 76,946,664 (GRCm39) |
S129P |
unknown |
Het |
Slc7a11 |
A |
T |
3: 50,382,177 (GRCm39) |
I190N |
probably damaging |
Het |
Smc5 |
A |
T |
19: 23,186,290 (GRCm39) |
F1056I |
|
Het |
Son |
A |
T |
16: 91,461,824 (GRCm39) |
Q2243L |
unknown |
Het |
Sult1a1 |
T |
A |
7: 126,274,280 (GRCm39) |
I101F |
possibly damaging |
Het |
Sult3a2 |
T |
C |
10: 33,655,747 (GRCm39) |
I77M |
probably benign |
Het |
Tas1r1 |
A |
T |
4: 152,116,774 (GRCm39) |
S287T |
probably benign |
Het |
Thbs3 |
A |
C |
3: 89,132,565 (GRCm39) |
T836P |
probably benign |
Het |
Tlcd3b |
G |
A |
7: 126,423,275 (GRCm39) |
V6M |
probably benign |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tnfrsf8 |
A |
T |
4: 145,041,653 (GRCm39) |
M1K |
probably null |
Het |
Vmn1r121 |
T |
G |
7: 20,831,679 (GRCm39) |
N254H |
probably benign |
Het |
Vmn1r179 |
C |
T |
7: 23,628,436 (GRCm39) |
A209V |
probably benign |
Het |
Wdr31 |
A |
T |
4: 62,381,634 (GRCm39) |
S66T |
probably benign |
Het |
Zbtb18 |
T |
C |
1: 177,275,003 (GRCm39) |
V121A |
probably damaging |
Het |
Zfp30 |
T |
A |
7: 29,488,826 (GRCm39) |
M82K |
probably benign |
Het |
Zzef1 |
A |
G |
11: 72,765,955 (GRCm39) |
Q1494R |
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 |
|
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 |
|
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 |
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'- TCAGCTGCCCAACCTTGATC -3'
(R):5'- GCTAGACATGACCTTGAACACG -3'
Sequencing Primer
(F):5'- TTCCAGACCTTCTGCCAGAAAGG -3'
(R):5'- CTAGACATGACCTTGAACACGGAAAG -3'
|
Posted On |
2020-07-28 |