Incidental Mutation 'R6648:Plcd4'
ID |
524330 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcd4
|
Ensembl Gene |
ENSMUSG00000026173 |
Gene Name |
phospholipase C, delta 4 |
Synonyms |
4921507K24Rik |
MMRRC Submission |
044769-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6648 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
74581175-74605137 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74591172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 189
(D189G)
|
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: D189G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027362 Gene: ENSMUSG00000026173 AA Change: D189G
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: D189G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000064413 Gene: ENSMUSG00000026173 AA Change: D189G
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: D189G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109376 Gene: ENSMUSG00000026173 AA Change: D189G
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: D189G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109378 Gene: ENSMUSG00000026173 AA Change: D189G
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: D189G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109379 Gene: ENSMUSG00000026173 AA Change: D189G
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
AA Change: D189G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000115322 Gene: ENSMUSG00000026173 AA Change: D189G
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
AA Change: D189G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000121732 Gene: ENSMUSG00000026173 AA Change: D189G
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
98% (42/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
T |
C |
17: 45,827,490 (GRCm39) |
Y511H |
probably damaging |
Het |
Arhgef38 |
A |
T |
3: 132,838,236 (GRCm39) |
I600N |
probably damaging |
Het |
Cacna1g |
A |
T |
11: 94,323,395 (GRCm39) |
C1270S |
probably damaging |
Het |
Ccar2 |
T |
G |
14: 70,376,674 (GRCm39) |
D890A |
probably benign |
Het |
Cep76 |
A |
T |
18: 67,752,804 (GRCm39) |
V548D |
probably benign |
Het |
Chat |
T |
G |
14: 32,176,651 (GRCm39) |
Q41P |
probably benign |
Het |
Ddx24 |
T |
A |
12: 103,374,634 (GRCm39) |
N850I |
probably benign |
Het |
Dst |
A |
G |
1: 34,301,122 (GRCm39) |
I5879V |
possibly damaging |
Het |
Ece1 |
A |
G |
4: 137,648,470 (GRCm39) |
T92A |
probably benign |
Het |
Ecrg4 |
T |
A |
1: 43,777,851 (GRCm39) |
F87I |
probably damaging |
Het |
Fpgs |
G |
T |
2: 32,574,799 (GRCm39) |
C439* |
probably null |
Het |
H2-Q4 |
A |
T |
17: 35,601,981 (GRCm39) |
E281V |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,252,299 (GRCm39) |
|
probably null |
Het |
Iqgap2 |
T |
C |
13: 95,818,719 (GRCm39) |
E679G |
probably benign |
Het |
Kif12 |
A |
T |
4: 63,089,554 (GRCm39) |
|
probably null |
Het |
Kif21b |
T |
C |
1: 136,080,135 (GRCm39) |
V557A |
probably benign |
Het |
Mki67 |
C |
G |
7: 135,299,169 (GRCm39) |
S1955T |
probably damaging |
Het |
Mybpc1 |
G |
A |
10: 88,358,861 (GRCm39) |
T1110M |
probably damaging |
Het |
Myh9 |
T |
C |
15: 77,650,972 (GRCm39) |
H1625R |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,466,710 (GRCm39) |
T704M |
probably damaging |
Het |
Or1ad6 |
G |
A |
11: 50,860,000 (GRCm39) |
D52N |
probably damaging |
Het |
Or5a21 |
A |
T |
19: 12,311,130 (GRCm39) |
M30K |
probably benign |
Het |
Osbpl9 |
C |
A |
4: 108,948,876 (GRCm39) |
Q91H |
possibly damaging |
Het |
Pcsk5 |
A |
T |
19: 17,553,185 (GRCm39) |
L665Q |
probably damaging |
Het |
Pgm5 |
T |
C |
19: 24,838,996 (GRCm39) |
D53G |
probably benign |
Het |
Plxnb1 |
A |
T |
9: 108,933,398 (GRCm39) |
Q676L |
probably benign |
Het |
Prss33 |
A |
G |
17: 24,053,676 (GRCm39) |
S134P |
probably benign |
Het |
Rln1 |
G |
T |
19: 29,309,521 (GRCm39) |
T86K |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,370,746 (GRCm39) |
A4785T |
possibly damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,148,111 (GRCm39) |
C1274R |
probably benign |
Het |
Slc35a5 |
A |
T |
16: 44,964,280 (GRCm39) |
F318I |
probably damaging |
Het |
Slc41a3 |
T |
C |
6: 90,596,490 (GRCm39) |
F20L |
probably damaging |
Het |
Socs4 |
T |
A |
14: 47,527,633 (GRCm39) |
N189K |
probably benign |
Het |
Tiam2 |
A |
T |
17: 3,557,148 (GRCm39) |
E1196V |
probably damaging |
Het |
Tmc3 |
T |
A |
7: 83,246,751 (GRCm39) |
V164D |
probably damaging |
Het |
Trim46 |
T |
C |
3: 89,142,549 (GRCm39) |
E623G |
possibly damaging |
Het |
Ubr4 |
C |
A |
4: 139,180,030 (GRCm39) |
C3403* |
probably null |
Het |
Vmn1r194 |
A |
T |
13: 22,428,694 (GRCm39) |
T104S |
probably benign |
Het |
Vmn2r112 |
A |
T |
17: 22,837,467 (GRCm39) |
I643F |
probably damaging |
Het |
Zfp1002 |
T |
C |
2: 150,097,097 (GRCm39) |
I111V |
probably benign |
Het |
Zmynd11 |
T |
G |
13: 9,763,057 (GRCm39) |
S95R |
probably benign |
Het |
Zswim4 |
C |
A |
8: 84,957,543 (GRCm39) |
R175L |
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 |
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 |
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 |
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'- ACCTGGGAAGATGACCCTTAC -3'
(R):5'- AATGAGTTCCAGAGCGAGGTC -3'
Sequencing Primer
(F):5'- TGCTTGCCACGTAAGAATAGGACTC -3'
(R):5'- CGAGGTCAGGAGCATGGTC -3'
|
Posted On |
2018-06-22 |