Incidental Mutation 'R6085:Pld4'
| ID |
482443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pld4
|
| Ensembl Gene |
ENSMUSG00000052160 |
| Gene Name |
phospholipase D family member 4 |
| Synonyms |
thss |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6085 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
112727089-112735420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112733320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 299
(T299A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063888]
|
| AlphaFold |
Q8BG07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063888
AA Change: T299A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: T299A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
|
PLDc
|
207 |
234 |
1.64e-10 |
SMART |
|
Pfam:PLDc_3
|
237 |
414 |
5.5e-41 |
PFAM |
|
PLDc
|
421 |
447 |
4.66e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221811
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222886
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: A spontaneous mutation that introduces a stop codon at residue 46 of 503 results in smaller body size and thin fur. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Boc |
G |
T |
16: 44,308,970 (GRCm39) |
D847E |
probably damaging |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,134,255 (GRCm39) |
I1051T |
unknown |
Het |
| Ciita |
A |
G |
16: 10,330,029 (GRCm39) |
E771G |
probably benign |
Het |
| Cul2 |
T |
C |
18: 3,431,508 (GRCm39) |
F638L |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,429,866 (GRCm39) |
Y293H |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
| Etv1 |
G |
A |
12: 38,904,194 (GRCm39) |
D285N |
probably damaging |
Het |
| Hs3st3a1 |
G |
A |
11: 64,327,004 (GRCm39) |
V38I |
possibly damaging |
Het |
| Ifit1bl2 |
A |
C |
19: 34,597,217 (GRCm39) |
F133C |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,615,156 (GRCm39) |
T1360I |
probably benign |
Het |
| Mgrn1 |
A |
G |
16: 4,738,240 (GRCm39) |
T265A |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,177,842 (GRCm39) |
V1075A |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,859,950 (GRCm39) |
Y35C |
|
Het |
| Prr5 |
T |
A |
15: 84,572,106 (GRCm39) |
I38N |
probably damaging |
Het |
| Slc25a47 |
A |
G |
12: 108,820,254 (GRCm39) |
Y86C |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,817,308 (GRCm39) |
I241M |
possibly damaging |
Het |
| Synrg |
A |
T |
11: 83,930,487 (GRCm39) |
E1276D |
possibly damaging |
Het |
| Taar7e |
T |
C |
10: 23,913,761 (GRCm39) |
F84L |
probably benign |
Het |
| Tssk1 |
G |
A |
16: 17,712,848 (GRCm39) |
C211Y |
possibly damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Xpo7 |
A |
T |
14: 70,934,051 (GRCm39) |
S236T |
probably benign |
Het |
|
| Other mutations in Pld4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00570:Pld4
|
APN |
12 |
112,729,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01839:Pld4
|
APN |
12 |
112,731,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01954:Pld4
|
APN |
12 |
112,734,355 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02253:Pld4
|
APN |
12 |
112,733,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Pld4
|
APN |
12 |
112,733,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03278:Pld4
|
APN |
12 |
112,733,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03349:Pld4
|
APN |
12 |
112,734,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
Lipodicum
|
UTSW |
12 |
112,731,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Pld4
|
UTSW |
12 |
112,734,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Pld4
|
UTSW |
12 |
112,734,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Pld4
|
UTSW |
12 |
112,734,291 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1078:Pld4
|
UTSW |
12 |
112,729,876 (GRCm39) |
missense |
probably benign |
|
|
R1756:Pld4
|
UTSW |
12 |
112,729,826 (GRCm39) |
splice site |
probably null |
|
|
R2006:Pld4
|
UTSW |
12 |
112,734,923 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2037:Pld4
|
UTSW |
12 |
112,734,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3738:Pld4
|
UTSW |
12 |
112,734,469 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4630:Pld4
|
UTSW |
12 |
112,731,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Pld4
|
UTSW |
12 |
112,730,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5008:Pld4
|
UTSW |
12 |
112,734,484 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5263:Pld4
|
UTSW |
12 |
112,731,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5310:Pld4
|
UTSW |
12 |
112,735,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Pld4
|
UTSW |
12 |
112,730,422 (GRCm39) |
nonsense |
probably null |
|
|
R5513:Pld4
|
UTSW |
12 |
112,728,988 (GRCm39) |
missense |
probably benign |
|
|
R5788:Pld4
|
UTSW |
12 |
112,730,551 (GRCm39) |
missense |
probably benign |
|
|
R6157:Pld4
|
UTSW |
12 |
112,734,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Pld4
|
UTSW |
12 |
112,731,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Pld4
|
UTSW |
12 |
112,730,549 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6962:Pld4
|
UTSW |
12 |
112,733,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7864:Pld4
|
UTSW |
12 |
112,731,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8792:Pld4
|
UTSW |
12 |
112,729,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Pld4
|
UTSW |
12 |
112,733,210 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9790:Pld4
|
UTSW |
12 |
112,734,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Pld4
|
UTSW |
12 |
112,734,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGCAATCATCTACAACTGC -3'
(R):5'- TAATCAGTGCTCTGGGTCTCTC -3'
Sequencing Primer
(F):5'- TGCAGCAACCTGGCTCAAG -3'
(R):5'- AGCCACAGTCTCTTGGCC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation