Incidental Mutation 'IGL02537:Plcd4'
ID |
297556 |
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 # |
IGL02537
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
74581175-74605137 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74595209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 361
(K361R)
|
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 benign
Transcript: ENSMUST00000027362
AA Change: K361R
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000027362 Gene: ENSMUSG00000026173 AA Change: K361R
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 benign
Transcript: ENSMUST00000067916
AA Change: K361R
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000064413 Gene: ENSMUSG00000026173 AA Change: K361R
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 benign
Transcript: ENSMUST00000113747
AA Change: K361R
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109376 Gene: ENSMUSG00000026173 AA Change: K361R
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 benign
Transcript: ENSMUST00000113749
AA Change: K361R
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109378 Gene: ENSMUSG00000026173 AA Change: K361R
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 benign
Transcript: ENSMUST00000113750
AA Change: K361R
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109379 Gene: ENSMUSG00000026173 AA Change: K361R
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 |
possibly damaging
Transcript: ENSMUST00000141412
AA Change: K361R
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000115322 Gene: ENSMUSG00000026173 AA Change: K361R
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 |
possibly damaging
Transcript: ENSMUST00000152707
AA Change: K361R
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000121732 Gene: ENSMUSG00000026173 AA Change: K361R
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Alx3 |
T |
A |
3: 107,512,175 (GRCm39) |
M271K |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,749,565 (GRCm39) |
E488G |
probably damaging |
Het |
Arsk |
T |
A |
13: 76,223,025 (GRCm39) |
R191* |
probably null |
Het |
B230217C12Rik |
T |
C |
11: 97,733,011 (GRCm39) |
S111P |
possibly damaging |
Het |
Bckdhb |
A |
G |
9: 83,871,194 (GRCm39) |
I158V |
probably benign |
Het |
Bub1 |
G |
A |
2: 127,643,267 (GRCm39) |
Q1026* |
probably null |
Het |
C8a |
A |
G |
4: 104,703,148 (GRCm39) |
M303T |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,274,596 (GRCm39) |
T905A |
probably benign |
Het |
Ciao3 |
C |
T |
17: 25,997,916 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,208,310 (GRCm39) |
K132* |
probably null |
Het |
Depdc5 |
T |
A |
5: 33,125,131 (GRCm39) |
L531Q |
probably damaging |
Het |
Dzip1 |
G |
A |
14: 119,146,988 (GRCm39) |
|
probably benign |
Het |
F5 |
C |
A |
1: 164,020,686 (GRCm39) |
L1054I |
probably benign |
Het |
Gm4353 |
A |
T |
7: 115,682,987 (GRCm39) |
I198N |
probably damaging |
Het |
Il1a |
T |
A |
2: 129,150,996 (GRCm39) |
E9V |
probably damaging |
Het |
Irag1 |
A |
T |
7: 110,470,680 (GRCm39) |
Y678* |
probably null |
Het |
Kif15 |
A |
G |
9: 122,822,914 (GRCm39) |
T432A |
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,490,326 (GRCm39) |
V276A |
probably benign |
Het |
Or2aj5 |
A |
T |
16: 19,424,549 (GRCm39) |
Y290N |
probably damaging |
Het |
Or4a74 |
A |
C |
2: 89,439,739 (GRCm39) |
S236A |
possibly damaging |
Het |
Or6n2 |
A |
T |
1: 173,897,020 (GRCm39) |
D52V |
possibly damaging |
Het |
Palld |
T |
C |
8: 62,137,968 (GRCm39) |
S596G |
probably benign |
Het |
Pdc |
A |
T |
1: 150,208,760 (GRCm39) |
D81V |
possibly damaging |
Het |
Plekhm1 |
T |
A |
11: 103,288,018 (GRCm39) |
D43V |
probably damaging |
Het |
Prpf31 |
G |
T |
7: 3,641,750 (GRCm39) |
G356C |
probably damaging |
Het |
Rbpj |
T |
A |
5: 53,799,485 (GRCm39) |
I100K |
probably damaging |
Het |
Rufy3 |
A |
G |
5: 88,788,521 (GRCm39) |
|
probably benign |
Het |
Slc40a1 |
C |
T |
1: 45,950,553 (GRCm39) |
V300I |
probably benign |
Het |
Slc6a12 |
A |
T |
6: 121,337,473 (GRCm39) |
I386F |
probably benign |
Het |
Strip1 |
C |
T |
3: 107,524,210 (GRCm39) |
R569H |
possibly damaging |
Het |
Tep1 |
A |
T |
14: 51,073,570 (GRCm39) |
D1996E |
probably damaging |
Het |
Tmem68 |
A |
G |
4: 3,569,649 (GRCm39) |
S14P |
possibly damaging |
Het |
Trav12-1 |
C |
A |
14: 53,775,980 (GRCm39) |
C44* |
probably null |
Het |
Uba1 |
G |
A |
X: 20,544,902 (GRCm39) |
R693H |
possibly damaging |
Het |
Ugt2b38 |
T |
C |
5: 87,569,590 (GRCm39) |
T246A |
possibly damaging |
Het |
Usp24 |
A |
G |
4: 106,249,564 (GRCm39) |
Y1427C |
probably damaging |
Het |
Vmn2r78 |
A |
T |
7: 86,603,496 (GRCm39) |
Y558F |
probably damaging |
Het |
Wdr54 |
A |
G |
6: 83,130,372 (GRCm39) |
W221R |
possibly damaging |
Het |
Xpo4 |
T |
C |
14: 57,831,290 (GRCm39) |
T773A |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zfp518a |
T |
A |
19: 40,903,874 (GRCm39) |
S1268T |
probably benign |
Het |
Znfx1 |
T |
C |
2: 166,898,087 (GRCm39) |
D279G |
probably benign |
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 |
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 |
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 |
2015-04-16 |