Incidental Mutation 'IGL03306:Gpcpd1'
| ID |
416404 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpcpd1
|
| Ensembl Gene |
ENSMUSG00000027346 |
| Gene Name |
glycerophosphocholine phosphodiesterase 1 |
| Synonyms |
Prei4, 2310004G06Rik, 2310032D16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
IGL03306
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
132371002-132420173 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 132375993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028822]
[ENSMUST00000060955]
[ENSMUST00000110136]
[ENSMUST00000110142]
[ENSMUST00000145694]
[ENSMUST00000148833]
[ENSMUST00000149854]
|
| AlphaFold |
Q8C0L9 |
| Predicted Effect |
silent
Transcript: ENSMUST00000028822
|
| SMART Domains |
Protein: ENSMUSP00000028822
Gene: ENSMUSG00000027346
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDPD
|
142 |
432 |
1.3e-61 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000060955
|
| SMART Domains |
Protein: ENSMUSP00000062221
Gene: ENSMUSG00000027346
| Domain | Start | End | E-Value | Type |
|---|
|
CBM_2
|
3 |
110 |
3.78e-29 |
SMART |
|
low complexity region
|
142 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
175 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
326 |
615 |
5.3e-61 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110136
|
| SMART Domains |
Protein: ENSMUSP00000105763
Gene: ENSMUSG00000027346
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDPD
|
142 |
431 |
4.1e-59 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110142
|
| SMART Domains |
Protein: ENSMUSP00000105769
Gene: ENSMUSG00000027346
| Domain | Start | End | E-Value | Type |
|---|
|
CBM_2
|
3 |
110 |
3.78e-29 |
SMART |
|
low complexity region
|
142 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
175 |
N/A |
INTRINSIC |
|
Pfam:GDPD
|
326 |
615 |
6.1e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124632
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145694
|
| SMART Domains |
Protein: ENSMUSP00000116457
Gene: ENSMUSG00000027346
| Domain | Start | End | E-Value | Type |
|---|
|
CBM_2
|
3 |
110 |
3.78e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148833
|
| SMART Domains |
Protein: ENSMUSP00000116156
Gene: ENSMUSG00000027346
| Domain | Start | End | E-Value | Type |
|---|
|
CBM_2
|
3 |
99 |
1.02e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149854
|
| SMART Domains |
Protein: ENSMUSP00000116949
Gene: ENSMUSG00000027346
| Domain | Start | End | E-Value | Type |
|---|
|
CBM_2
|
3 |
94 |
5.54e-13 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
T |
A |
7: 76,239,252 (GRCm39) |
F584Y |
probably damaging |
Het |
| Amer2 |
C |
A |
14: 60,616,001 (GRCm39) |
D65E |
probably damaging |
Het |
| Arhgap28 |
A |
T |
17: 68,159,930 (GRCm39) |
L623Q |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,447,328 (GRCm39) |
T407A |
possibly damaging |
Het |
| Cmpk2 |
A |
G |
12: 26,521,442 (GRCm39) |
D238G |
possibly damaging |
Het |
| Fam169a |
C |
A |
13: 97,243,497 (GRCm39) |
Q176K |
possibly damaging |
Het |
| Fbxo17 |
T |
A |
7: 28,434,782 (GRCm39) |
I189N |
probably damaging |
Het |
| Gm5581 |
T |
A |
6: 131,145,044 (GRCm39) |
|
noncoding transcript |
Het |
| Lhx2 |
A |
G |
2: 38,244,628 (GRCm39) |
Y123C |
probably damaging |
Het |
| Llgl1 |
C |
A |
11: 60,602,180 (GRCm39) |
T741N |
possibly damaging |
Het |
| Macc1 |
A |
G |
12: 119,410,603 (GRCm39) |
Q457R |
probably benign |
Het |
| Mthfd2l |
A |
G |
5: 91,168,067 (GRCm39) |
T321A |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,153,837 (GRCm39) |
F271S |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,247,427 (GRCm39) |
V1959A |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,224,535 (GRCm39) |
D304G |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,185,104 (GRCm39) |
V841A |
probably damaging |
Het |
| Or10c1 |
A |
G |
17: 37,522,568 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or1j20 |
A |
T |
2: 36,760,537 (GRCm39) |
|
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 109,029,529 (GRCm39) |
|
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,353,194 (GRCm39) |
N995D |
possibly damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,127,717 (GRCm39) |
H92L |
probably damaging |
Het |
| Rasd1 |
T |
A |
11: 59,855,181 (GRCm39) |
I100F |
possibly damaging |
Het |
| Rbm26 |
T |
C |
14: 105,388,758 (GRCm39) |
T378A |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,078,386 (GRCm39) |
S805P |
possibly damaging |
Het |
| Smarcal1 |
G |
A |
1: 72,665,625 (GRCm39) |
V708I |
probably benign |
Het |
| Strn |
A |
G |
17: 78,974,652 (GRCm39) |
S408P |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,247,975 (GRCm39) |
N232S |
probably benign |
Het |
| Tmbim1 |
A |
G |
1: 74,332,225 (GRCm39) |
Y101H |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,935,895 (GRCm39) |
L614Q |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,826,149 (GRCm39) |
L171P |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,737,904 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gpcpd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00542:Gpcpd1
|
APN |
2 |
132,398,903 (GRCm39) |
splice site |
probably null |
|
|
IGL00672:Gpcpd1
|
APN |
2 |
132,372,468 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00676:Gpcpd1
|
APN |
2 |
132,395,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00832:Gpcpd1
|
APN |
2 |
132,388,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00931:Gpcpd1
|
APN |
2 |
132,380,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01309:Gpcpd1
|
APN |
2 |
132,392,244 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01960:Gpcpd1
|
APN |
2 |
132,381,818 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02110:Gpcpd1
|
APN |
2 |
132,372,530 (GRCm39) |
nonsense |
probably null |
|
|
IGL02267:Gpcpd1
|
APN |
2 |
132,410,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02570:Gpcpd1
|
APN |
2 |
132,389,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02588:Gpcpd1
|
APN |
2 |
132,376,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Baependi
|
UTSW |
2 |
132,386,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Gpcpd1
|
UTSW |
2 |
132,406,543 (GRCm39) |
splice site |
probably benign |
|
|
R1876:Gpcpd1
|
UTSW |
2 |
132,376,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4276:Gpcpd1
|
UTSW |
2 |
132,382,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4571:Gpcpd1
|
UTSW |
2 |
132,392,270 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4849:Gpcpd1
|
UTSW |
2 |
132,376,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Gpcpd1
|
UTSW |
2 |
132,388,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5060:Gpcpd1
|
UTSW |
2 |
132,386,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5081:Gpcpd1
|
UTSW |
2 |
132,389,622 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5148:Gpcpd1
|
UTSW |
2 |
132,376,110 (GRCm39) |
nonsense |
probably null |
|
|
R5189:Gpcpd1
|
UTSW |
2 |
132,395,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5344:Gpcpd1
|
UTSW |
2 |
132,400,597 (GRCm39) |
intron |
probably benign |
|
|
R5623:Gpcpd1
|
UTSW |
2 |
132,376,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6086:Gpcpd1
|
UTSW |
2 |
132,380,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:Gpcpd1
|
UTSW |
2 |
132,379,758 (GRCm39) |
intron |
probably benign |
|
|
R6885:Gpcpd1
|
UTSW |
2 |
132,395,994 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7223:Gpcpd1
|
UTSW |
2 |
132,375,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7261:Gpcpd1
|
UTSW |
2 |
132,410,619 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7900:Gpcpd1
|
UTSW |
2 |
132,376,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8120:Gpcpd1
|
UTSW |
2 |
132,395,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8494:Gpcpd1
|
UTSW |
2 |
132,386,355 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9594:Gpcpd1
|
UTSW |
2 |
132,388,848 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
X0018:Gpcpd1
|
UTSW |
2 |
132,376,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Gpcpd1
|
UTSW |
2 |
132,376,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Gpcpd1
|
UTSW |
2 |
132,386,315 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2016-08-02 |
Incidental Mutation