Incidental Mutation 'R4347:Gpihbp1'
| ID |
328379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpihbp1
|
| Ensembl Gene |
ENSMUSG00000022579 |
| Gene Name |
GPI-anchored HDL-binding protein 1 |
| Synonyms |
GPI-HBP1, 1110002J19Rik |
| MMRRC Submission |
041102-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4347 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
75468479-75470062 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to G
at 75470017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glycine
at position 124
(*124G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023243]
[ENSMUST00000189874]
[ENSMUST00000189944]
|
| AlphaFold |
Q9D1N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023243
|
| SMART Domains |
Protein: ENSMUSP00000023243
Gene: ENSMUSG00000022579
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
48 |
N/A |
INTRINSIC |
|
LU
|
61 |
148 |
8.32e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186934
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189874
AA Change: L105R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139792
Gene: ENSMUSG00000022579
AA Change: L105R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
48 |
N/A |
INTRINSIC |
|
Blast:LU
|
61 |
107 |
9e-19 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189944
AA Change: *124G
|
| SMART Domains |
Protein: ENSMUSP00000139511
Gene: ENSMUSG00000022579
AA Change: *124G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
48 |
N/A |
INTRINSIC |
|
Blast:LU
|
61 |
97 |
4e-18 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190119
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit milky plasma due to increased triglyceride and cholesterol levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
C |
T |
11: 3,840,122 (GRCm39) |
V92M |
probably damaging |
Het |
| 4930503E14Rik |
C |
A |
14: 44,408,635 (GRCm39) |
R66S |
probably damaging |
Het |
| Abca5 |
A |
T |
11: 110,190,794 (GRCm39) |
I772N |
probably damaging |
Het |
| Acox1 |
T |
C |
11: 116,089,487 (GRCm39) |
N15S |
probably benign |
Het |
| Arhgap28 |
C |
T |
17: 68,180,137 (GRCm39) |
V233I |
probably benign |
Het |
| Chil4 |
T |
C |
3: 106,110,144 (GRCm39) |
I317V |
probably benign |
Het |
| Dvl3 |
G |
A |
16: 20,350,049 (GRCm39) |
R645H |
possibly damaging |
Het |
| Efl1 |
A |
T |
7: 82,347,174 (GRCm39) |
M567L |
probably damaging |
Het |
| Gal3st2b |
C |
T |
1: 93,867,530 (GRCm39) |
T59I |
probably damaging |
Het |
| Gm7135 |
T |
A |
1: 97,276,035 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv10-96 |
T |
A |
6: 68,609,164 (GRCm39) |
R44W |
probably benign |
Het |
| Igkv13-84 |
T |
A |
6: 68,916,760 (GRCm39) |
I19K |
probably benign |
Het |
| Kcnab1 |
A |
G |
3: 65,204,896 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
C |
A |
4: 149,331,691 (GRCm39) |
G545C |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,650,279 (GRCm39) |
S1328P |
possibly damaging |
Het |
| Nrp1 |
T |
C |
8: 129,207,472 (GRCm39) |
|
probably null |
Het |
| Olfml1 |
C |
T |
7: 107,167,040 (GRCm39) |
P23L |
probably benign |
Het |
| Plekhh2 |
G |
A |
17: 84,927,130 (GRCm39) |
A1457T |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,990,531 (GRCm39) |
I40V |
possibly damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,010,055 (GRCm39) |
T185A |
possibly damaging |
Het |
| Srek1 |
C |
T |
13: 103,885,267 (GRCm39) |
G396D |
probably null |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Trim3 |
C |
T |
7: 105,268,594 (GRCm39) |
G120D |
probably damaging |
Het |
| Usp5 |
T |
A |
6: 124,798,158 (GRCm39) |
Q409L |
probably damaging |
Het |
| Vim |
T |
G |
2: 13,580,329 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gpihbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01505:Gpihbp1
|
APN |
15 |
75,469,977 (GRCm39) |
intron |
probably benign |
|
|
IGL02108:Gpihbp1
|
APN |
15 |
75,469,461 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03303:Gpihbp1
|
APN |
15 |
75,469,827 (GRCm39) |
nonsense |
probably null |
|
|
R0056:Gpihbp1
|
UTSW |
15 |
75,468,982 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0970:Gpihbp1
|
UTSW |
15 |
75,469,795 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5009:Gpihbp1
|
UTSW |
15 |
75,469,570 (GRCm39) |
intron |
probably benign |
|
|
R7900:Gpihbp1
|
UTSW |
15 |
75,469,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8047:Gpihbp1
|
UTSW |
15 |
75,469,627 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8797:Gpihbp1
|
UTSW |
15 |
75,469,828 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9095:Gpihbp1
|
UTSW |
15 |
75,469,641 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9159:Gpihbp1
|
UTSW |
15 |
75,469,830 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9608:Gpihbp1
|
UTSW |
15 |
75,469,612 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGGTGGCAAGTTTAGC -3'
(R):5'- TAGACAGCTGGATCTGAGGC -3'
Sequencing Primer
(F):5'- CAGGTTGTCAAGGCTGCTCATC -3'
(R):5'- GATCTGAGGCTGACATGTTACCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation