Incidental Mutation 'IGL02110:Gpcpd1'
| ID |
280087 |
| 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: 0.936)
|
| Stock # |
IGL02110
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
132371002-132420173 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 132372530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 657
(C657*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028822]
[ENSMUST00000060955]
[ENSMUST00000110136]
[ENSMUST00000110142]
[ENSMUST00000145694]
[ENSMUST00000149854]
[ENSMUST00000148833]
|
| AlphaFold |
Q8C0L9 |
| Predicted Effect |
probably benign
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
AA Change: C657*
|
| SMART Domains |
Protein: ENSMUSP00000062221
Gene: ENSMUSG00000027346
AA Change: C657*
| 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
AA Change: C473*
|
| SMART Domains |
Protein: ENSMUSP00000105763
Gene: ENSMUSG00000027346
AA Change: C473*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDPD
|
142 |
431 |
4.1e-59 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110142
AA Change: C657*
|
| SMART Domains |
Protein: ENSMUSP00000105769
Gene: ENSMUSG00000027346
AA Change: C657*
| 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: ENSMUST00000149854
|
| SMART Domains |
Protein: ENSMUSP00000116949
Gene: ENSMUSG00000027346
| Domain | Start | End | E-Value | Type |
|---|
|
CBM_2
|
3 |
94 |
5.54e-13 |
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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
A |
G |
15: 77,598,548 (GRCm39) |
|
probably null |
Het |
| Arhgef40 |
C |
T |
14: 52,226,862 (GRCm39) |
T302M |
probably damaging |
Het |
| Bap1 |
T |
C |
14: 30,979,371 (GRCm39) |
L458P |
probably damaging |
Het |
| Bbs12 |
A |
G |
3: 37,373,336 (GRCm39) |
E43G |
probably benign |
Het |
| Bod1l |
C |
T |
5: 41,973,796 (GRCm39) |
C2506Y |
probably damaging |
Het |
| Ccdc170 |
A |
G |
10: 4,491,885 (GRCm39) |
|
probably null |
Het |
| Chpf2 |
A |
G |
5: 24,796,710 (GRCm39) |
E552G |
probably damaging |
Het |
| Comp |
T |
A |
8: 70,826,289 (GRCm39) |
I23N |
probably benign |
Het |
| Cxcl2 |
T |
C |
5: 91,052,211 (GRCm39) |
|
probably benign |
Het |
| Dctn5 |
T |
C |
7: 121,734,374 (GRCm39) |
F73L |
probably damaging |
Het |
| Ddx5 |
T |
C |
11: 106,675,835 (GRCm39) |
E285G |
probably damaging |
Het |
| Ddx60 |
T |
G |
8: 62,470,281 (GRCm39) |
|
probably null |
Het |
| Dhcr24 |
T |
A |
4: 106,430,998 (GRCm39) |
I229N |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,450,739 (GRCm39) |
T3897I |
possibly damaging |
Het |
| Dvl2 |
T |
A |
11: 69,898,842 (GRCm39) |
|
probably benign |
Het |
| Dytn |
A |
T |
1: 63,686,632 (GRCm39) |
V346E |
possibly damaging |
Het |
| Eepd1 |
T |
C |
9: 25,514,698 (GRCm39) |
|
probably benign |
Het |
| Fbln2 |
G |
T |
6: 91,211,084 (GRCm39) |
A343S |
probably benign |
Het |
| Flywch1 |
T |
C |
17: 23,982,066 (GRCm39) |
|
probably null |
Het |
| Gckr |
A |
T |
5: 31,456,082 (GRCm39) |
T81S |
possibly damaging |
Het |
| Gm6139 |
T |
A |
5: 129,700,656 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
A |
G |
18: 10,515,271 (GRCm39) |
I89V |
probably damaging |
Het |
| Hdac4 |
G |
A |
1: 91,912,127 (GRCm39) |
P421S |
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,753,082 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,374,039 (GRCm39) |
L669P |
probably benign |
Het |
| Mios |
A |
G |
6: 8,215,565 (GRCm39) |
R254G |
probably damaging |
Het |
| Mmp19 |
A |
G |
10: 128,630,727 (GRCm39) |
N116D |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,401,453 (GRCm39) |
C566* |
probably null |
Het |
| Nadsyn1 |
T |
C |
7: 143,367,164 (GRCm39) |
Y141C |
probably damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,116,491 (GRCm39) |
|
noncoding transcript |
Het |
| Nob1 |
A |
T |
8: 108,142,804 (GRCm39) |
*160R |
probably null |
Het |
| Or10ac1 |
A |
G |
6: 42,515,113 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or1f12 |
T |
A |
13: 21,722,112 (GRCm39) |
Q21L |
possibly damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,697 (GRCm39) |
T228A |
probably benign |
Het |
| Or4k45 |
C |
T |
2: 111,395,252 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or51s1 |
C |
T |
7: 102,558,402 (GRCm39) |
V215I |
probably benign |
Het |
| Or56b1b |
C |
A |
7: 108,164,286 (GRCm39) |
A239S |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,298,994 (GRCm39) |
D658G |
possibly damaging |
Het |
| Pitx2 |
T |
G |
3: 129,012,466 (GRCm39) |
S299A |
probably damaging |
Het |
| Plekha7 |
C |
A |
7: 115,753,863 (GRCm39) |
|
probably null |
Het |
| Ptgfr |
A |
G |
3: 151,541,097 (GRCm39) |
V137A |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,167,108 (GRCm39) |
|
probably benign |
Het |
| Rasl2-9 |
C |
T |
7: 5,128,346 (GRCm39) |
A195T |
probably benign |
Het |
| Ripor3 |
T |
A |
2: 167,836,626 (GRCm39) |
Q121L |
possibly damaging |
Het |
| Sgsh |
G |
T |
11: 119,243,632 (GRCm39) |
A30E |
probably damaging |
Het |
| Sis |
G |
T |
3: 72,836,032 (GRCm39) |
C852* |
probably null |
Het |
| Slc17a9 |
A |
G |
2: 180,374,369 (GRCm39) |
|
probably benign |
Het |
| Slco6b1 |
A |
T |
1: 96,915,607 (GRCm39) |
|
noncoding transcript |
Het |
| Smarca2 |
A |
G |
19: 26,650,140 (GRCm39) |
Y704C |
possibly damaging |
Het |
| Spata6 |
A |
T |
4: 111,642,003 (GRCm39) |
H291L |
possibly damaging |
Het |
| Stra8 |
T |
C |
6: 34,907,289 (GRCm39) |
|
probably benign |
Het |
| Taldo1 |
T |
C |
7: 140,982,647 (GRCm39) |
|
probably benign |
Het |
| Tmco6 |
T |
C |
18: 36,868,219 (GRCm39) |
|
probably benign |
Het |
| Tmpo |
A |
C |
10: 90,998,727 (GRCm39) |
S353R |
probably damaging |
Het |
| Tpr |
A |
T |
1: 150,311,493 (GRCm39) |
Q1757L |
probably damaging |
Het |
| Ubn1 |
T |
C |
16: 4,899,754 (GRCm39) |
|
probably benign |
Het |
| Vmn2r83 |
T |
C |
10: 79,327,534 (GRCm39) |
V714A |
possibly damaging |
Het |
| Zfp407 |
G |
T |
18: 84,577,165 (GRCm39) |
A1316D |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,803,938 (GRCm39) |
I2560N |
probably damaging |
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 |
|
|
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 |
|
IGL03306:Gpcpd1
|
APN |
2 |
132,375,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation