Incidental Mutation 'R9217:Plcd1'
| ID |
699262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcd1
|
| Ensembl Gene |
ENSMUSG00000010660 |
| Gene Name |
phospholipase C, delta 1 |
| Synonyms |
PLC-delta 1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
R9217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
118900595-118922570 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 118901723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149813
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010804]
[ENSMUST00000051386]
[ENSMUST00000074734]
[ENSMUST00000126251]
[ENSMUST00000141185]
[ENSMUST00000213464]
[ENSMUST00000214470]
|
| AlphaFold |
Q8R3B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010804
|
| SMART Domains |
Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660
| 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 |
probably benign
Transcript: ENSMUST00000213464
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214470
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
97% (59/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
C |
6: 92,808,967 (GRCm39) |
V98A |
unknown |
Het |
| Abca15 |
A |
T |
7: 119,987,439 (GRCm39) |
M1242L |
probably benign |
Het |
| Abcb9 |
G |
A |
5: 124,214,090 (GRCm39) |
R576C |
possibly damaging |
Het |
| Abl2 |
A |
G |
1: 156,452,902 (GRCm39) |
S146G |
probably damaging |
Het |
| Aga |
G |
A |
8: 53,966,627 (GRCm39) |
G60S |
probably damaging |
Het |
| Amigo1 |
T |
A |
3: 108,095,944 (GRCm39) |
V481D |
probably damaging |
Het |
| Ano5 |
C |
A |
7: 51,243,415 (GRCm39) |
P846Q |
probably damaging |
Het |
| Ccdc62 |
C |
A |
5: 124,092,470 (GRCm39) |
T485K |
probably benign |
Het |
| Cd177 |
A |
T |
7: 24,445,550 (GRCm39) |
I631K |
possibly damaging |
Het |
| Chil6 |
T |
A |
3: 106,313,411 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,717,441 (GRCm39) |
S1283P |
probably damaging |
Het |
| Cpt1a |
G |
A |
19: 3,425,111 (GRCm39) |
V493I |
probably benign |
Het |
| Dcbld1 |
T |
A |
10: 52,138,028 (GRCm39) |
D97E |
probably benign |
Het |
| Decr1 |
G |
A |
4: 15,930,969 (GRCm39) |
P121L |
probably damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,729,578 (GRCm39) |
L661Q |
probably benign |
Het |
| Eif2d |
A |
G |
1: 131,085,972 (GRCm39) |
M156V |
possibly damaging |
Het |
| Ermn |
A |
T |
2: 57,938,010 (GRCm39) |
I201K |
probably damaging |
Het |
| Etfbkmt |
T |
C |
6: 149,045,663 (GRCm39) |
C6R |
probably benign |
Het |
| Evx2 |
A |
T |
2: 74,488,109 (GRCm39) |
|
probably null |
Het |
| Fam222a |
T |
C |
5: 114,748,905 (GRCm39) |
S34P |
probably benign |
Het |
| Fmo6 |
A |
T |
1: 162,748,046 (GRCm39) |
D339E |
probably benign |
Het |
| Fubp1 |
T |
C |
3: 151,923,873 (GRCm39) |
S142P |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
A |
T |
4: 155,625,033 (GRCm39) |
Q75L |
probably damaging |
Het |
| Gucy2e |
C |
T |
11: 69,126,778 (GRCm39) |
A232T |
possibly damaging |
Het |
| Haspin |
A |
T |
11: 73,026,936 (GRCm39) |
C718S |
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,738,707 (GRCm39) |
P175L |
possibly damaging |
Het |
| Jph1 |
T |
A |
1: 17,167,632 (GRCm39) |
Q66L |
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,386,944 (GRCm39) |
D206Y |
possibly damaging |
Het |
| Klf14 |
T |
C |
6: 30,935,470 (GRCm39) |
T55A |
probably benign |
Het |
| Lclat1 |
T |
C |
17: 73,494,879 (GRCm39) |
M125T |
probably damaging |
Het |
| Lgr5 |
T |
A |
10: 115,423,349 (GRCm39) |
Q17L |
probably benign |
Het |
| Lrmda |
A |
G |
14: 22,648,361 (GRCm39) |
I64V |
unknown |
Het |
| Lrrc15 |
A |
G |
16: 30,092,415 (GRCm39) |
L308P |
probably damaging |
Het |
| Lyst |
C |
A |
13: 13,871,245 (GRCm39) |
Q2661K |
probably benign |
Het |
| Map3k21 |
T |
A |
8: 126,638,027 (GRCm39) |
D204E |
possibly damaging |
Het |
| Msln |
T |
C |
17: 25,970,125 (GRCm39) |
I277V |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,835,138 (GRCm39) |
T1389M |
probably damaging |
Het |
| Or8c10 |
A |
G |
9: 38,279,268 (GRCm39) |
Y132C |
probably damaging |
Het |
| Plce1 |
C |
T |
19: 38,748,551 (GRCm39) |
R1761C |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,103,414 (GRCm39) |
L964P |
probably damaging |
Het |
| Prss43 |
T |
C |
9: 110,656,564 (GRCm39) |
S84P |
possibly damaging |
Het |
| Rffl |
T |
C |
11: 82,703,633 (GRCm39) |
T97A |
possibly damaging |
Het |
| Riok2 |
G |
C |
17: 17,598,057 (GRCm39) |
G48A |
possibly damaging |
Het |
| Sec24a |
A |
G |
11: 51,617,331 (GRCm39) |
M488T |
probably benign |
Het |
| Setdb2 |
C |
T |
14: 59,646,881 (GRCm39) |
D545N |
possibly damaging |
Het |
| Slc39a4 |
T |
A |
15: 76,498,126 (GRCm39) |
H400L |
possibly damaging |
Het |
| St7 |
T |
A |
6: 17,846,271 (GRCm39) |
F175I |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,299,324 (GRCm39) |
D977V |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,534,646 (GRCm39) |
T1801I |
probably damaging |
Het |
| Terf1 |
C |
T |
1: 15,883,295 (GRCm39) |
T136I |
probably damaging |
Het |
| Tnnt1 |
T |
C |
7: 4,513,381 (GRCm39) |
S42G |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 21,000,822 (GRCm39) |
V287A |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,230,467 (GRCm39) |
I870K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,574,389 (GRCm39) |
N25501K |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,485,715 (GRCm39) |
W1662R |
probably damaging |
Het |
| Wdr47 |
T |
A |
3: 108,525,890 (GRCm39) |
C138S |
probably damaging |
Het |
| Zfp458 |
A |
G |
13: 67,408,298 (GRCm39) |
S6P |
probably damaging |
Het |
| Zfp668 |
A |
C |
7: 127,465,804 (GRCm39) |
L460* |
probably null |
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 |
|
R6496:Plcd1
|
UTSW |
9 |
118,901,709 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
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 |
2022-02-07 |
Incidental Mutation