Incidental Mutation 'R3157:Plcd4'
ID |
263524 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcd4
|
Ensembl Gene |
ENSMUSG00000026173 |
Gene Name |
phospholipase C, delta 4 |
Synonyms |
4921507K24Rik |
MMRRC Submission |
040608-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3157 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
74581175-74605137 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 74590313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109379
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027362]
[ENSMUST00000067916]
[ENSMUST00000067916]
[ENSMUST00000113747]
[ENSMUST00000113747]
[ENSMUST00000113749]
[ENSMUST00000113749]
[ENSMUST00000113750]
[ENSMUST00000113750]
[ENSMUST00000141412]
[ENSMUST00000152707]
|
AlphaFold |
Q8K3R3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027362
|
SMART Domains |
Protein: ENSMUSP00000027362 Gene: ENSMUSG00000026173
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
2.6e-12 |
SMART |
EFh
|
138 |
166 |
9.97e-1 |
SMART |
EFh
|
174 |
202 |
1.83e1 |
SMART |
EFh
|
207 |
234 |
4.45e1 |
SMART |
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
PLCYc
|
538 |
654 |
1.26e-75 |
SMART |
C2
|
673 |
779 |
5.68e-20 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000067916
|
SMART Domains |
Protein: ENSMUSP00000064413 Gene: ENSMUSG00000026173
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
2.6e-12 |
SMART |
EFh
|
138 |
166 |
9.97e-1 |
SMART |
EFh
|
174 |
202 |
1.83e1 |
SMART |
EFh
|
207 |
234 |
4.45e1 |
SMART |
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
PLCYc
|
506 |
622 |
1.26e-75 |
SMART |
C2
|
641 |
747 |
5.68e-20 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000067916
|
SMART Domains |
Protein: ENSMUSP00000064413 Gene: ENSMUSG00000026173
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
2.6e-12 |
SMART |
EFh
|
138 |
166 |
9.97e-1 |
SMART |
EFh
|
174 |
202 |
1.83e1 |
SMART |
EFh
|
207 |
234 |
4.45e1 |
SMART |
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
PLCYc
|
506 |
622 |
1.26e-75 |
SMART |
C2
|
641 |
747 |
5.68e-20 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113745
|
SMART Domains |
Protein: ENSMUSP00000109374 Gene: ENSMUSG00000026173
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
2.6e-12 |
SMART |
EFh
|
138 |
166 |
9.97e-1 |
SMART |
EFh
|
174 |
202 |
1.83e1 |
SMART |
EFh
|
207 |
234 |
4.45e1 |
SMART |
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113747
|
SMART Domains |
Protein: ENSMUSP00000109376 Gene: ENSMUSG00000026173
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
2.6e-12 |
SMART |
EFh
|
138 |
166 |
9.97e-1 |
SMART |
EFh
|
174 |
202 |
1.83e1 |
SMART |
EFh
|
207 |
234 |
4.45e1 |
SMART |
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
PLCYc
|
506 |
622 |
1.26e-75 |
SMART |
C2
|
641 |
747 |
5.68e-20 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113747
|
SMART Domains |
Protein: ENSMUSP00000109376 Gene: ENSMUSG00000026173
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
2.6e-12 |
SMART |
EFh
|
138 |
166 |
9.97e-1 |
SMART |
EFh
|
174 |
202 |
1.83e1 |
SMART |
EFh
|
207 |
234 |
4.45e1 |
SMART |
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
PLCYc
|
506 |
622 |
1.26e-75 |
SMART |
C2
|
641 |
747 |
5.68e-20 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113749
|
SMART Domains |
Protein: ENSMUSP00000109378 Gene: ENSMUSG00000026173
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
2.6e-12 |
SMART |
EFh
|
138 |
166 |
9.97e-1 |
SMART |
EFh
|
174 |
202 |
1.83e1 |
SMART |
EFh
|
207 |
234 |
4.45e1 |
SMART |
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
PLCYc
|
538 |
654 |
1.26e-75 |
SMART |
C2
|
673 |
779 |
5.68e-20 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113749
|
SMART Domains |
Protein: ENSMUSP00000109378 Gene: ENSMUSG00000026173
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
2.6e-12 |
SMART |
EFh
|
138 |
166 |
9.97e-1 |
SMART |
EFh
|
174 |
202 |
1.83e1 |
SMART |
EFh
|
207 |
234 |
4.45e1 |
SMART |
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
PLCYc
|
538 |
654 |
1.26e-75 |
SMART |
C2
|
673 |
779 |
5.68e-20 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113750
|
SMART Domains |
Protein: ENSMUSP00000109379 Gene: ENSMUSG00000026173
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
2.6e-12 |
SMART |
EFh
|
138 |
166 |
9.97e-1 |
SMART |
EFh
|
174 |
202 |
1.83e1 |
SMART |
EFh
|
207 |
234 |
4.45e1 |
SMART |
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
PLCYc
|
506 |
622 |
1.26e-75 |
SMART |
C2
|
641 |
747 |
7.16e-17 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113750
|
SMART Domains |
Protein: ENSMUSP00000109379 Gene: ENSMUSG00000026173
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
2.6e-12 |
SMART |
EFh
|
138 |
166 |
9.97e-1 |
SMART |
EFh
|
174 |
202 |
1.83e1 |
SMART |
EFh
|
207 |
234 |
4.45e1 |
SMART |
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
PLCYc
|
506 |
622 |
1.26e-75 |
SMART |
C2
|
641 |
747 |
7.16e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141412
|
SMART Domains |
Protein: ENSMUSP00000115322 Gene: ENSMUSG00000026173
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
2.6e-12 |
SMART |
EFh
|
138 |
166 |
9.97e-1 |
SMART |
EFh
|
174 |
202 |
1.83e1 |
SMART |
EFh
|
207 |
234 |
4.45e1 |
SMART |
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152707
|
SMART Domains |
Protein: ENSMUSP00000121732 Gene: ENSMUSG00000026173
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
2.6e-12 |
SMART |
EFh
|
138 |
166 |
9.97e-1 |
SMART |
EFh
|
174 |
202 |
1.83e1 |
SMART |
EFh
|
207 |
234 |
4.45e1 |
SMART |
PLCXc
|
290 |
435 |
2.03e-79 |
SMART |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185411
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
98% (47/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [provided by RefSeq, Jan 2011] PHENOTYPE: Males homozygous for a targeted null mutation are subfertile or sterile. Sperm from mutant males fail to initiate the acrosome reaction. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
A |
T |
13: 8,747,669 (GRCm39) |
K408N |
probably benign |
Het |
Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
Ap1g2 |
A |
T |
14: 55,336,731 (GRCm39) |
I747N |
probably damaging |
Het |
Arhgap27 |
T |
A |
11: 103,224,663 (GRCm39) |
|
probably null |
Het |
Bmp1 |
G |
T |
14: 70,729,547 (GRCm39) |
N541K |
possibly damaging |
Het |
Cacna1c |
T |
A |
6: 118,728,485 (GRCm39) |
T320S |
probably benign |
Het |
Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
D630003M21Rik |
A |
C |
2: 158,037,392 (GRCm39) |
|
probably benign |
Het |
Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,127,195 (GRCm39) |
Y1058H |
probably benign |
Het |
Dscam |
T |
C |
16: 96,479,710 (GRCm39) |
T1146A |
probably benign |
Het |
Fnip2 |
T |
C |
3: 79,474,901 (GRCm39) |
T4A |
probably damaging |
Het |
Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
Gxylt1 |
A |
G |
15: 93,142,913 (GRCm39) |
I384T |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,290,267 (GRCm39) |
N2367D |
probably damaging |
Het |
Hydin |
A |
G |
8: 110,994,005 (GRCm39) |
K13R |
unknown |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Kcns1 |
G |
A |
2: 164,006,865 (GRCm39) |
A366V |
probably damaging |
Het |
Kif5a |
A |
T |
10: 127,081,310 (GRCm39) |
I208N |
probably damaging |
Het |
Klrb1c |
G |
T |
6: 128,761,702 (GRCm39) |
T134K |
possibly damaging |
Het |
Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
Mgat4d |
T |
C |
8: 84,081,450 (GRCm39) |
Y68H |
probably benign |
Het |
Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
Ncapg |
T |
A |
5: 45,833,400 (GRCm39) |
D295E |
probably benign |
Het |
Npas2 |
C |
T |
1: 39,386,690 (GRCm39) |
T653M |
possibly damaging |
Het |
Nps |
A |
G |
7: 134,873,989 (GRCm39) |
D53G |
probably benign |
Het |
Ociad1 |
A |
T |
5: 73,467,688 (GRCm39) |
R155* |
probably null |
Het |
Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
Pcdha2 |
A |
G |
18: 37,073,145 (GRCm39) |
T259A |
probably damaging |
Het |
Pced1a |
A |
G |
2: 130,261,687 (GRCm39) |
M322T |
probably benign |
Het |
Pcgf6 |
T |
C |
19: 47,028,475 (GRCm39) |
|
probably benign |
Het |
Pigg |
C |
T |
5: 108,462,014 (GRCm39) |
T115I |
probably damaging |
Het |
Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
Rasal2 |
A |
G |
1: 156,986,225 (GRCm39) |
|
probably benign |
Het |
Rec8 |
A |
G |
14: 55,862,763 (GRCm39) |
E574G |
probably damaging |
Het |
Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
Slc16a8 |
T |
C |
15: 79,136,375 (GRCm39) |
I276V |
probably damaging |
Het |
Slc8a3 |
C |
A |
12: 81,361,766 (GRCm39) |
R351L |
probably damaging |
Het |
Slc9b1 |
G |
A |
3: 135,077,606 (GRCm39) |
G100E |
probably damaging |
Het |
Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
Synpr |
C |
T |
14: 13,493,614 (GRCm38) |
A64V |
possibly damaging |
Het |
Tmem132a |
C |
T |
19: 10,836,901 (GRCm39) |
W680* |
probably null |
Het |
Tpt1 |
G |
A |
14: 76,083,840 (GRCm39) |
|
probably benign |
Het |
Trav18 |
A |
G |
14: 54,069,152 (GRCm39) |
T65A |
probably benign |
Het |
Ttll4 |
T |
C |
1: 74,736,770 (GRCm39) |
L1165P |
possibly damaging |
Het |
|
Other mutations in Plcd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00489:Plcd4
|
APN |
1 |
74,591,274 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01806:Plcd4
|
APN |
1 |
74,591,192 (GRCm39) |
missense |
probably benign |
0.42 |
IGL02537:Plcd4
|
APN |
1 |
74,595,209 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02574:Plcd4
|
APN |
1 |
74,603,539 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Plcd4
|
APN |
1 |
74,596,967 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03350:Plcd4
|
APN |
1 |
74,588,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R0415:Plcd4
|
UTSW |
1 |
74,591,256 (GRCm39) |
missense |
probably damaging |
0.99 |
R1699:Plcd4
|
UTSW |
1 |
74,587,394 (GRCm39) |
missense |
probably benign |
0.01 |
R1852:Plcd4
|
UTSW |
1 |
74,588,520 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2120:Plcd4
|
UTSW |
1 |
74,603,584 (GRCm39) |
missense |
probably benign |
0.00 |
R2125:Plcd4
|
UTSW |
1 |
74,604,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R3023:Plcd4
|
UTSW |
1 |
74,587,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R4535:Plcd4
|
UTSW |
1 |
74,602,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R4581:Plcd4
|
UTSW |
1 |
74,587,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R4863:Plcd4
|
UTSW |
1 |
74,604,961 (GRCm39) |
splice site |
probably null |
|
R4911:Plcd4
|
UTSW |
1 |
74,603,572 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4987:Plcd4
|
UTSW |
1 |
74,587,118 (GRCm39) |
unclassified |
probably benign |
|
R5102:Plcd4
|
UTSW |
1 |
74,604,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R5752:Plcd4
|
UTSW |
1 |
74,587,131 (GRCm39) |
splice site |
probably null |
|
R5887:Plcd4
|
UTSW |
1 |
74,590,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R6318:Plcd4
|
UTSW |
1 |
74,602,753 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6648:Plcd4
|
UTSW |
1 |
74,591,172 (GRCm39) |
missense |
probably benign |
0.00 |
R6796:Plcd4
|
UTSW |
1 |
74,601,229 (GRCm39) |
missense |
probably benign |
0.03 |
R6920:Plcd4
|
UTSW |
1 |
74,604,994 (GRCm39) |
unclassified |
probably benign |
|
R7047:Plcd4
|
UTSW |
1 |
74,591,148 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7121:Plcd4
|
UTSW |
1 |
74,604,524 (GRCm39) |
missense |
probably benign |
|
R7134:Plcd4
|
UTSW |
1 |
74,593,662 (GRCm39) |
missense |
probably benign |
0.05 |
R7270:Plcd4
|
UTSW |
1 |
74,593,838 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7344:Plcd4
|
UTSW |
1 |
74,593,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R7363:Plcd4
|
UTSW |
1 |
74,590,231 (GRCm39) |
missense |
probably null |
0.99 |
R7749:Plcd4
|
UTSW |
1 |
74,604,292 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7980:Plcd4
|
UTSW |
1 |
74,604,464 (GRCm39) |
missense |
probably benign |
0.00 |
R8240:Plcd4
|
UTSW |
1 |
74,593,660 (GRCm39) |
missense |
probably benign |
0.38 |
R8762:Plcd4
|
UTSW |
1 |
74,591,213 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9000:Plcd4
|
UTSW |
1 |
74,601,024 (GRCm39) |
nonsense |
probably null |
|
R9114:Plcd4
|
UTSW |
1 |
74,591,307 (GRCm39) |
missense |
possibly damaging |
0.60 |
R9162:Plcd4
|
UTSW |
1 |
74,601,362 (GRCm39) |
missense |
probably benign |
0.00 |
R9252:Plcd4
|
UTSW |
1 |
74,588,359 (GRCm39) |
missense |
probably damaging |
0.97 |
R9579:Plcd4
|
UTSW |
1 |
74,596,948 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Plcd4
|
UTSW |
1 |
74,596,951 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Plcd4
|
UTSW |
1 |
74,587,285 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTTGGGAGAGAAACTGGCAAC -3'
(R):5'- CCTTCTAACAAGATTAAGGGGCC -3'
Sequencing Primer
(F):5'- GTTCAATGGATGAGCACACAC -3'
(R):5'- TTCTAACAAGATTAAGGGGCCAGAGC -3'
|
Posted On |
2015-02-05 |