Incidental Mutation 'R0094:Gypa'
| ID |
64008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gypa
|
| Ensembl Gene |
ENSMUSG00000051839 |
| Gene Name |
glycophorin A |
| Synonyms |
GPA, CD235a |
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
84 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
81220674-81237414 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81227560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 69
(H69Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063359]
|
| AlphaFold |
P14220 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000063359
AA Change: H69Q
|
| SMART Domains |
Protein: ENSMUSP00000070836
Gene: ENSMUSG00000051839
AA Change: H69Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycophorin_A
|
43 |
162 |
2.5e-53 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile; however, mutant erythrocytes had a reduced percentage of O-linked glycoproteins in the membranes, and were sensitive to hypoosmotic stress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ap5z1 |
G |
A |
5: 142,462,567 (GRCm39) |
V626M |
probably benign |
Het |
| Cacna2d3 |
C |
T |
14: 28,892,460 (GRCm39) |
|
probably null |
Het |
| Cfap77 |
A |
T |
2: 28,874,446 (GRCm39) |
V128D |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
| Dcdc2b |
T |
C |
4: 129,504,104 (GRCm39) |
|
probably null |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Dtx1 |
A |
G |
5: 120,820,689 (GRCm39) |
Y455H |
probably damaging |
Het |
| Frmpd1 |
C |
A |
4: 45,284,899 (GRCm39) |
S1240* |
probably null |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mroh7 |
C |
T |
4: 106,560,381 (GRCm39) |
G641E |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,230,864 (GRCm39) |
N370K |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rfc4 |
G |
T |
16: 22,934,178 (GRCm39) |
Q208K |
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
| Sirpb1c |
G |
T |
3: 15,892,922 (GRCm39) |
T94K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,828,770 (GRCm39) |
N1136K |
probably damaging |
Het |
| Spp2 |
T |
A |
1: 88,348,402 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,819 (GRCm39) |
H134R |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,661,722 (GRCm39) |
R698G |
probably benign |
Het |
|
| Other mutations in Gypa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Gypa
|
APN |
8 |
81,231,408 (GRCm39) |
splice site |
probably benign |
|
|
IGL02283:Gypa
|
APN |
8 |
81,220,721 (GRCm39) |
splice site |
probably benign |
|
|
R0067:Gypa
|
UTSW |
8 |
81,229,710 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0563:Gypa
|
UTSW |
8 |
81,236,089 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0685:Gypa
|
UTSW |
8 |
81,223,331 (GRCm39) |
splice site |
probably benign |
|
|
R0729:Gypa
|
UTSW |
8 |
81,223,421 (GRCm39) |
missense |
unknown |
|
|
R0850:Gypa
|
UTSW |
8 |
81,222,974 (GRCm39) |
missense |
unknown |
|
|
R1299:Gypa
|
UTSW |
8 |
81,223,382 (GRCm39) |
missense |
unknown |
|
|
R2435:Gypa
|
UTSW |
8 |
81,233,397 (GRCm39) |
splice site |
probably null |
|
|
R4998:Gypa
|
UTSW |
8 |
81,222,964 (GRCm39) |
missense |
unknown |
|
|
R5121:Gypa
|
UTSW |
8 |
81,222,977 (GRCm39) |
missense |
unknown |
|
|
R6295:Gypa
|
UTSW |
8 |
81,222,969 (GRCm39) |
missense |
unknown |
|
|
R6827:Gypa
|
UTSW |
8 |
81,231,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8171:Gypa
|
UTSW |
8 |
81,236,092 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8200:Gypa
|
UTSW |
8 |
81,220,695 (GRCm39) |
missense |
unknown |
|
|
R9043:Gypa
|
UTSW |
8 |
81,222,946 (GRCm39) |
missense |
unknown |
|
|
Z1177:Gypa
|
UTSW |
8 |
81,227,627 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCCATGCAGTCTAAGTCTGGTG -3'
(R):5'- ATCATTCGAGGTCTGTAGGGGAGC -3'
Sequencing Primer
(F):5'- GGTGAAATACAATCATGCCGTCTG -3'
(R):5'- ACAGCAGGAACCTGTGC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation