Incidental Mutation 'R3738:Pld4'
| ID |
270253 |
| 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 # |
R3738 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
112727089-112735420 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112734469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 410
(I410T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063888]
[ENSMUST00000101010]
[ENSMUST00000128258]
|
| AlphaFold |
Q8BG07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063888
AA Change: I410T
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: I410T
| 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 |
probably benign
Transcript: ENSMUST00000101010
|
| SMART Domains |
Protein: ENSMUSP00000098572
Gene: ENSMUSG00000072812
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
733 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128258
|
| SMART Domains |
Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
66 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
67 |
251 |
2.35e-83 |
PROSPERO |
|
low complexity region
|
285 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
389 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
413 |
597 |
2.35e-83 |
PROSPERO |
|
low complexity region
|
734 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
811 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
1170 |
1181 |
N/A |
INTRINSIC |
|
low complexity region
|
1351 |
1370 |
N/A |
INTRINSIC |
|
low complexity region
|
1523 |
1539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221811
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222886
|
| Meta Mutation Damage Score |
0.0894 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (47/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
| Abcb8 |
A |
G |
5: 24,605,619 (GRCm39) |
S168G |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,623,454 (GRCm39) |
|
probably benign |
Het |
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,666,800 (GRCm39) |
|
probably benign |
Het |
| Camk2d |
A |
G |
3: 126,565,488 (GRCm39) |
D136G |
probably damaging |
Het |
| Capn3 |
G |
A |
2: 120,315,768 (GRCm39) |
D227N |
possibly damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,098,026 (GRCm39) |
V1024A |
probably benign |
Het |
| Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
| Dlgap3 |
A |
G |
4: 127,089,399 (GRCm39) |
T332A |
probably damaging |
Het |
| Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
| Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,517,981 (GRCm39) |
Y335F |
possibly damaging |
Het |
| Gbp10 |
T |
A |
5: 105,372,324 (GRCm39) |
E145D |
possibly damaging |
Het |
| Ifi203 |
T |
A |
1: 173,757,040 (GRCm39) |
|
probably benign |
Het |
| Insig1 |
T |
A |
5: 28,276,701 (GRCm39) |
I89N |
probably damaging |
Het |
| Itpkc |
T |
A |
7: 26,927,029 (GRCm39) |
D295V |
possibly damaging |
Het |
| Jak1 |
T |
C |
4: 101,048,665 (GRCm39) |
|
probably benign |
Het |
| Kctd9 |
G |
A |
14: 67,971,737 (GRCm39) |
D157N |
possibly damaging |
Het |
| Kmt2c |
A |
C |
5: 25,610,381 (GRCm39) |
F242V |
probably benign |
Het |
| Lcorl |
A |
T |
5: 45,891,383 (GRCm39) |
N323K |
possibly damaging |
Het |
| Lin54 |
T |
C |
5: 100,607,665 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
| Myh9 |
G |
A |
15: 77,651,012 (GRCm39) |
R1612C |
probably damaging |
Het |
| Nr1d2 |
T |
A |
14: 18,211,804 (GRCm38) |
N433I |
possibly damaging |
Het |
| Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
| Or4c112 |
T |
C |
2: 88,853,954 (GRCm39) |
Y131C |
probably damaging |
Het |
| Or4l15 |
T |
C |
14: 50,198,013 (GRCm39) |
N172S |
possibly damaging |
Het |
| Pnma8b |
C |
T |
7: 16,680,521 (GRCm39) |
H502Y |
probably benign |
Het |
| Pramel12 |
T |
C |
4: 143,143,212 (GRCm39) |
|
probably benign |
Het |
| Rbbp8nl |
G |
T |
2: 179,923,041 (GRCm39) |
T184K |
probably benign |
Het |
| Saa4 |
T |
A |
7: 46,379,053 (GRCm39) |
N96Y |
possibly damaging |
Het |
| Serpinb6d |
T |
A |
13: 33,851,663 (GRCm39) |
V140E |
probably damaging |
Het |
| Ska3 |
A |
T |
14: 58,049,053 (GRCm39) |
M306K |
probably benign |
Het |
| Slfn4 |
T |
C |
11: 83,076,137 (GRCm39) |
M1T |
probably null |
Het |
| Sorcs1 |
T |
C |
19: 50,139,659 (GRCm39) |
I1168V |
probably benign |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
| Trim9 |
T |
C |
12: 70,297,969 (GRCm39) |
T579A |
probably damaging |
Het |
| Trpc2 |
G |
A |
7: 101,733,711 (GRCm39) |
S220N |
probably damaging |
Het |
| Ube2j1 |
A |
T |
4: 33,036,723 (GRCm39) |
M16L |
probably benign |
Het |
| Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
| Vmn2r62 |
G |
A |
7: 42,437,311 (GRCm39) |
P391L |
probably benign |
Het |
| Zfa-ps |
T |
A |
10: 52,420,636 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
probably damaging |
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 |
|
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 |
|
|
R6085:Pld4
|
UTSW |
12 |
112,733,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CTCAATAAGGGTGTGCATGTGC -3'
(R):5'- AAGCTGGGCTAAGTGTCTG -3'
Sequencing Primer
(F):5'- TCAGCTGCTGGTTCAACACAG -3'
(R):5'- TGGCTCCCAGGATATGTGAGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation