Incidental Mutation 'IGL02812:Plcd4'
ID |
360626 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plcd4
|
Ensembl Gene |
ENSMUSG00000026173 |
Gene Name |
phospholipase C, delta 4 |
Synonyms |
4921507K24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02812
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
74581175-74605137 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 74596967 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 403
(L403Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121732
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027362]
[ENSMUST00000067916]
[ENSMUST00000113747]
[ENSMUST00000113749]
[ENSMUST00000113750]
[ENSMUST00000141412]
[ENSMUST00000152707]
|
AlphaFold |
Q8K3R3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027362
AA Change: L403Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027362 Gene: ENSMUSG00000026173 AA Change: L403Q
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 damaging
Transcript: ENSMUST00000067916
AA Change: L403Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064413 Gene: ENSMUSG00000026173 AA Change: L403Q
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 damaging
Transcript: ENSMUST00000113747
AA Change: L403Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109376 Gene: ENSMUSG00000026173 AA Change: L403Q
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 damaging
Transcript: ENSMUST00000113749
AA Change: L403Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109378 Gene: ENSMUSG00000026173 AA Change: L403Q
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 damaging
Transcript: ENSMUST00000113750
AA Change: L403Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109379 Gene: ENSMUSG00000026173 AA Change: L403Q
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 damaging
Transcript: ENSMUST00000141412
AA Change: L403Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115322 Gene: ENSMUSG00000026173 AA Change: L403Q
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 damaging
Transcript: ENSMUST00000152707
AA Change: L403Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121732 Gene: ENSMUSG00000026173 AA Change: L403Q
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: ENSMUST00000189956
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
T |
10: 79,841,881 (GRCm39) |
V1005L |
possibly damaging |
Het |
Abcc9 |
A |
G |
6: 142,643,516 (GRCm39) |
S11P |
possibly damaging |
Het |
Acsl1 |
A |
T |
8: 46,945,873 (GRCm39) |
E2V |
possibly damaging |
Het |
Aox3 |
G |
A |
1: 58,205,055 (GRCm39) |
V757I |
probably benign |
Het |
Aqp4 |
T |
C |
18: 15,530,632 (GRCm39) |
|
probably null |
Het |
Arhgef7 |
A |
G |
8: 11,831,245 (GRCm39) |
|
probably benign |
Het |
Armc9 |
T |
A |
1: 86,172,293 (GRCm39) |
D2E |
probably damaging |
Het |
Celsr2 |
G |
A |
3: 108,321,429 (GRCm39) |
P461L |
probably benign |
Het |
Cep170 |
T |
C |
1: 176,570,080 (GRCm39) |
D1339G |
probably damaging |
Het |
Clk1 |
T |
A |
1: 58,453,635 (GRCm39) |
N317I |
probably damaging |
Het |
Comp |
G |
A |
8: 70,829,337 (GRCm39) |
G305S |
possibly damaging |
Het |
Depdc5 |
G |
A |
5: 33,050,712 (GRCm39) |
|
probably benign |
Het |
Dse |
T |
C |
10: 34,059,712 (GRCm39) |
E131G |
probably damaging |
Het |
Ecpas |
T |
A |
4: 58,864,343 (GRCm39) |
|
probably benign |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Epha2 |
A |
G |
4: 141,046,230 (GRCm39) |
|
probably benign |
Het |
Fam243 |
A |
G |
16: 92,117,616 (GRCm39) |
I224T |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,087,592 (GRCm39) |
|
probably benign |
Het |
Gbp9 |
T |
C |
5: 105,231,624 (GRCm39) |
N321D |
probably damaging |
Het |
Gm5884 |
A |
G |
6: 128,622,738 (GRCm39) |
|
noncoding transcript |
Het |
Gp2 |
A |
T |
7: 119,051,452 (GRCm39) |
N254K |
probably benign |
Het |
Hgh1 |
T |
A |
15: 76,253,754 (GRCm39) |
|
probably null |
Het |
Inpp5f |
A |
G |
7: 128,284,030 (GRCm39) |
N543S |
probably damaging |
Het |
Ints7 |
T |
C |
1: 191,351,853 (GRCm39) |
V854A |
probably damaging |
Het |
Itgb1bp1 |
T |
G |
12: 21,320,879 (GRCm39) |
|
probably benign |
Het |
Lrrtm4 |
A |
T |
6: 79,998,947 (GRCm39) |
N120Y |
probably damaging |
Het |
Map3k5 |
T |
C |
10: 19,900,782 (GRCm39) |
S319P |
probably damaging |
Het |
Mc4r |
A |
G |
18: 66,992,318 (GRCm39) |
L265S |
probably damaging |
Het |
Morc1 |
T |
C |
16: 48,378,869 (GRCm39) |
|
probably benign |
Het |
Mre11a |
T |
A |
9: 14,701,966 (GRCm39) |
|
probably null |
Het |
Msh4 |
T |
C |
3: 153,607,037 (GRCm39) |
|
probably benign |
Het |
Mterf4 |
A |
G |
1: 93,232,455 (GRCm39) |
L132P |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,368,005 (GRCm39) |
E255V |
probably benign |
Het |
Myot |
T |
C |
18: 44,479,127 (GRCm39) |
V288A |
probably damaging |
Het |
Nipa2 |
T |
C |
7: 55,592,766 (GRCm39) |
Y53C |
probably damaging |
Het |
Npas1 |
T |
A |
7: 16,190,041 (GRCm39) |
I502F |
probably damaging |
Het |
Or12j5 |
C |
T |
7: 140,083,533 (GRCm39) |
V280M |
probably damaging |
Het |
Or2y1d |
T |
A |
11: 49,321,749 (GRCm39) |
W149R |
probably damaging |
Het |
Osbp2 |
A |
G |
11: 3,664,637 (GRCm39) |
V565A |
probably benign |
Het |
Otof |
A |
G |
5: 30,531,426 (GRCm39) |
S1666P |
probably benign |
Het |
Per3 |
A |
C |
4: 151,108,927 (GRCm39) |
S476A |
probably damaging |
Het |
Pja2 |
T |
C |
17: 64,604,789 (GRCm39) |
N465D |
probably damaging |
Het |
Pla2g4c |
T |
C |
7: 13,082,290 (GRCm39) |
F512S |
probably damaging |
Het |
Psg26 |
T |
C |
7: 18,209,080 (GRCm39) |
T443A |
probably benign |
Het |
Snapc4 |
T |
A |
2: 26,259,384 (GRCm39) |
T589S |
probably benign |
Het |
Spag8 |
G |
A |
4: 43,651,755 (GRCm39) |
R404W |
probably damaging |
Het |
Tdrd7 |
A |
G |
4: 45,994,406 (GRCm39) |
D268G |
probably benign |
Het |
Tfap2d |
A |
G |
1: 19,213,151 (GRCm39) |
H325R |
possibly damaging |
Het |
Vmn1r59 |
C |
T |
7: 5,457,176 (GRCm39) |
V195I |
probably damaging |
Het |
Vmn1r67 |
G |
A |
7: 10,180,945 (GRCm39) |
E70K |
probably benign |
Het |
Wdr18 |
T |
A |
10: 79,796,898 (GRCm39) |
N91K |
possibly damaging |
Het |
Zbtb7b |
T |
C |
3: 89,287,081 (GRCm39) |
T463A |
probably 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 |
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 |
R3157:Plcd4
|
UTSW |
1 |
74,590,313 (GRCm39) |
splice site |
probably null |
|
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 |
|
Posted On |
2015-12-18 |