Incidental Mutation 'R6496:Plcd1'
| ID |
523028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd1
|
| Ensembl Gene |
ENSMUSG00000010660 |
| Gene Name |
phospholipase C, delta 1 |
| Synonyms |
PLC-delta 1 |
| MMRRC Submission |
044628-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.391)
|
| Stock # |
R6496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118900595-118922570 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118901709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 605
(F605S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010804]
[ENSMUST00000051386]
[ENSMUST00000074734]
[ENSMUST00000126251]
[ENSMUST00000141185]
[ENSMUST00000214470]
[ENSMUST00000213464]
|
| AlphaFold |
Q8R3B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010804
AA Change: F579S
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660
AA Change: F579S
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
22 |
132 |
9.41e-10 |
SMART |
|
EFh
|
144 |
172 |
2.87e-2 |
SMART |
|
EFh
|
180 |
208 |
9.34e1 |
SMART |
|
Pfam:EF-hand_like
|
213 |
295 |
1.2e-23 |
PFAM |
|
PLCXc
|
296 |
440 |
5.47e-94 |
SMART |
|
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
|
PLCYc
|
492 |
609 |
1.22e-68 |
SMART |
|
C2
|
630 |
735 |
1.78e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051386
|
| SMART Domains |
Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
14 |
114 |
4.59e-13 |
SMART |
|
GEL
|
135 |
227 |
4.18e-16 |
SMART |
|
GEL
|
252 |
348 |
8.35e-25 |
SMART |
|
GEL
|
391 |
488 |
7.92e-17 |
SMART |
|
GEL
|
508 |
594 |
4.38e-19 |
SMART |
|
GEL
|
613 |
706 |
7.8e-16 |
SMART |
|
VHP
|
824 |
859 |
2.12e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074734
|
| SMART Domains |
Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
14 |
114 |
4.59e-13 |
SMART |
|
GEL
|
135 |
227 |
4.18e-16 |
SMART |
|
GEL
|
252 |
348 |
8.35e-25 |
SMART |
|
GEL
|
391 |
488 |
7.92e-17 |
SMART |
|
GEL
|
508 |
594 |
4.38e-19 |
SMART |
|
VHP
|
740 |
775 |
2.12e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126251
|
| SMART Domains |
Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:GEL
|
1 |
56 |
9e-21 |
BLAST |
|
GEL
|
63 |
149 |
4.38e-19 |
SMART |
|
GEL
|
168 |
261 |
7.8e-16 |
SMART |
|
VHP
|
357 |
392 |
2.12e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141185
|
| SMART Domains |
Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
7 |
104 |
7.92e-17 |
SMART |
|
GEL
|
124 |
210 |
4.38e-19 |
SMART |
|
GEL
|
229 |
322 |
7.8e-16 |
SMART |
|
VHP
|
440 |
475 |
2.12e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153630
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214470
AA Change: F605S
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214491
|
| Meta Mutation Damage Score |
0.9609 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (36/36) |
| 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 phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene show reduced body size and various abnormalities of the skin and hair including alopecia, epidermal hyperplasia, enlarged sebaceous glands, various kinds of cysts, and skin tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,545,217 (GRCm39) |
T79S |
probably benign |
Het |
| Atp2b1 |
T |
A |
10: 98,839,199 (GRCm39) |
C676S |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,371,003 (GRCm39) |
F1047L |
probably benign |
Het |
| B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
| Casp8ap2 |
A |
C |
4: 32,641,553 (GRCm39) |
H869P |
probably benign |
Het |
| Cdh26 |
G |
A |
2: 178,091,654 (GRCm39) |
G71D |
probably damaging |
Het |
| Col4a2 |
G |
T |
8: 11,452,993 (GRCm39) |
G187* |
probably null |
Het |
| Col4a2 |
G |
T |
8: 11,452,994 (GRCm39) |
G187V |
probably damaging |
Het |
| Dsn1 |
A |
G |
2: 156,847,187 (GRCm39) |
S84P |
probably damaging |
Het |
| Edaradd |
T |
A |
13: 12,493,323 (GRCm39) |
D123V |
probably damaging |
Het |
| Epb41l1 |
T |
C |
2: 156,375,716 (GRCm39) |
S611P |
possibly damaging |
Het |
| Fam217a |
G |
A |
13: 35,094,785 (GRCm39) |
R234* |
probably null |
Het |
| Gm17175 |
A |
G |
14: 51,810,534 (GRCm39) |
I31T |
probably benign |
Het |
| Jtb |
T |
C |
3: 90,141,264 (GRCm39) |
V80A |
possibly damaging |
Het |
| Kera |
T |
A |
10: 97,448,672 (GRCm39) |
N297K |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,477,652 (GRCm39) |
N472S |
probably benign |
Het |
| Lgmn |
T |
C |
12: 102,364,498 (GRCm39) |
T324A |
probably benign |
Het |
| Ndst3 |
A |
G |
3: 123,346,201 (GRCm39) |
I276T |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,857 (GRCm39) |
K125E |
probably damaging |
Het |
| Or10ag59 |
A |
C |
2: 87,405,460 (GRCm39) |
N11H |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,853,448 (GRCm39) |
S73T |
probably benign |
Het |
| Patj |
C |
A |
4: 98,304,989 (GRCm39) |
A281E |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,638 (GRCm39) |
E221G |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,258,789 (GRCm39) |
K698R |
probably null |
Het |
| Potefam1 |
T |
A |
2: 110,994,817 (GRCm39) |
H232L |
unknown |
Het |
| Psd |
G |
A |
19: 46,308,753 (GRCm39) |
R628C |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,176,633 (GRCm39) |
N1211S |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,679,065 (GRCm39) |
M177L |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,550,495 (GRCm39) |
S183P |
probably benign |
Het |
| Spata22 |
G |
A |
11: 73,231,189 (GRCm39) |
G148R |
probably damaging |
Het |
| Spata31f1a |
G |
T |
4: 42,848,424 (GRCm39) |
T1244K |
probably damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,251 (GRCm39) |
D18G |
probably damaging |
Het |
| Thoc7 |
T |
C |
14: 13,954,593 (GRCm38) |
N28S |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,700,858 (GRCm39) |
Y1055C |
probably damaging |
Het |
| Zfp874a |
A |
G |
13: 67,590,694 (GRCm39) |
V330A |
possibly damaging |
Het |
|
| Other mutations in Plcd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01621:Plcd1
|
APN |
9 |
118,905,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01634:Plcd1
|
APN |
9 |
118,902,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01992:Plcd1
|
APN |
9 |
118,905,053 (GRCm39) |
missense |
probably benign |
|
|
IGL02246:Plcd1
|
APN |
9 |
118,901,677 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02266:Plcd1
|
APN |
9 |
118,903,855 (GRCm39) |
splice site |
probably benign |
|
|
IGL02270:Plcd1
|
APN |
9 |
118,913,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02281:Plcd1
|
APN |
9 |
118,903,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02324:Plcd1
|
APN |
9 |
118,901,710 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02936:Plcd1
|
APN |
9 |
118,903,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03348:Plcd1
|
APN |
9 |
118,901,558 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0366:Plcd1
|
UTSW |
9 |
118,910,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1765:Plcd1
|
UTSW |
9 |
118,900,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3704:Plcd1
|
UTSW |
9 |
118,905,277 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5143:Plcd1
|
UTSW |
9 |
118,903,519 (GRCm39) |
nonsense |
probably null |
|
|
R5587:Plcd1
|
UTSW |
9 |
118,902,900 (GRCm39) |
missense |
probably benign |
|
|
R5877:Plcd1
|
UTSW |
9 |
118,905,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6043:Plcd1
|
UTSW |
9 |
118,901,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6103:Plcd1
|
UTSW |
9 |
118,901,109 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6338:Plcd1
|
UTSW |
9 |
118,904,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Plcd1
|
UTSW |
9 |
118,904,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:Plcd1
|
UTSW |
9 |
118,905,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6646:Plcd1
|
UTSW |
9 |
118,904,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6854:Plcd1
|
UTSW |
9 |
118,903,389 (GRCm39) |
splice site |
probably null |
|
|
R6955:Plcd1
|
UTSW |
9 |
118,900,924 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7382:Plcd1
|
UTSW |
9 |
118,903,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Plcd1
|
UTSW |
9 |
118,901,322 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7922:Plcd1
|
UTSW |
9 |
118,903,720 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8089:Plcd1
|
UTSW |
9 |
118,905,060 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9027:Plcd1
|
UTSW |
9 |
118,913,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9217:Plcd1
|
UTSW |
9 |
118,901,723 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9434:Plcd1
|
UTSW |
9 |
118,905,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9596:Plcd1
|
UTSW |
9 |
118,917,183 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9667:Plcd1
|
UTSW |
9 |
118,901,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9739:Plcd1
|
UTSW |
9 |
118,901,195 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTATCAGGCCATACCCAGACTC -3'
(R):5'- TGCACACACTCTCGTGACAC -3'
Sequencing Primer
(F):5'- AGACTCGGAGCTTCTTCGG -3'
(R):5'- TCTCGTGACACACCTATATTATACAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation