Mutagenetix > Incidental Mutation

Incidental Mutation 'R5788:Pld4'

448172

Institutional Source

Beutler Lab

Gene Symbol

Pld4

Ensembl Gene

ENSMUSG00000052160

Gene Name

phospholipase D family member 4

Synonyms

thss

MMRRC Submission

043382-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112727089-112735420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 112730551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 145 (I145L)

Ref Sequence

ENSEMBL: ENSMUSP00000067002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063888]

AlphaFold

Q8BG07

Predicted Effect

probably benign
Transcript: ENSMUST00000063888
AA Change: I145L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: I145L

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

Meta Mutation Damage Score

0.0971

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

98% (62/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	A	G	7: 131,045,328 (GRCm39)	Y420C	probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Amfr	T	A	8: 94,726,942 (GRCm39)	R90S	probably damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Ano5	G	A	7: 51,216,066 (GRCm39)	D348N	possibly damaging	Het
Atp8a2	T	A	14: 60,258,242 (GRCm39)	D440V	probably damaging	Het
Bahcc1	A	G	11: 120,177,178 (GRCm39)	D2022G	probably damaging	Het
Bicd1	T	C	6: 149,385,498 (GRCm39)	F77S	probably benign	Het
Ccdc66	C	T	14: 27,220,448 (GRCm39)	R255H	probably benign	Het
Ckm	A	G	7: 19,153,372 (GRCm39)	D152G	probably benign	Het
Cpsf7	T	G	19: 10,518,082 (GRCm39)	S431A	possibly damaging	Het
Csmd1	T	C	8: 16,251,980 (GRCm39)	T959A	probably damaging	Het
Dkk4	T	C	8: 23,115,347 (GRCm39)	C66R	probably damaging	Het
Espl1	T	A	15: 102,232,465 (GRCm39)	W2058R	probably damaging	Het
Evi5l	A	T	8: 4,256,800 (GRCm39)		probably benign	Het
Fancg	A	T	4: 43,007,130 (GRCm39)		probably benign	Het
Flg2	A	T	3: 93,108,296 (GRCm39)	H108L	probably benign	Het
Fzd2	A	T	11: 102,496,293 (GRCm39)	T246S	probably benign	Het
Gm10428	T	G	11: 62,644,107 (GRCm39)		probably benign	Het
Gm1988	T	A	7: 38,821,627 (GRCm39)		noncoding transcript	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm7133	A	T	1: 97,171,201 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,717,962 (GRCm39)	N710S	probably benign	Het
Hcn2	T	C	10: 79,552,945 (GRCm39)	V148A	possibly damaging	Het
Hephl1	A	G	9: 14,995,579 (GRCm39)	L483S	possibly damaging	Het
Hinfp	C	T	9: 44,209,105 (GRCm39)	E338K	possibly damaging	Het
Hsd17b4	G	A	18: 50,306,776 (GRCm39)	D494N	probably damaging	Het
Ipo4	C	T	14: 55,866,277 (GRCm39)	V801M	probably benign	Het
Kcns2	A	C	15: 34,839,000 (GRCm39)	Y121S	probably benign	Het
Kif1c	T	A	11: 70,599,654 (GRCm39)	L462H	probably damaging	Het
Lrrk2	T	G	15: 91,648,851 (GRCm39)	V1615G	possibly damaging	Het
Naca	G	A	10: 127,876,011 (GRCm39)		probably benign	Het
Naip6	G	T	13: 100,436,724 (GRCm39)	Q600K	probably benign	Het
Ndufs2	A	G	1: 171,066,954 (GRCm39)	Y135H	probably damaging	Het
Nwd2	T	C	5: 63,965,114 (GRCm39)	V1566A	probably benign	Het
Or52d13	C	T	7: 103,110,086 (GRCm39)	V110I	possibly damaging	Het
Or52n4b	T	C	7: 108,144,551 (GRCm39)	I271T	probably damaging	Het
Or5t17	A	G	2: 86,832,645 (GRCm39)	T111A	probably benign	Het
Or6c75	A	G	10: 129,336,779 (GRCm39)	M1V	probably null	Het
Or6c75	A	T	10: 129,336,763 (GRCm39)	L3F	probably benign	Het
Pcid2	C	T	8: 13,150,320 (GRCm39)		probably null	Het
Pogk	A	T	1: 166,236,580 (GRCm39)		probably benign	Het
Rhbg	C	T	3: 88,152,874 (GRCm39)	V280I	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rxfp3	A	G	15: 11,036,250 (GRCm39)	F374S	possibly damaging	Het
Son	A	G	16: 91,456,940 (GRCm39)		probably benign	Het
Specc1l	G	T	10: 75,112,755 (GRCm39)	R994L	probably damaging	Het
Tas2r135	T	A	6: 42,382,531 (GRCm39)	D23E	probably damaging	Het
Teddm2	A	T	1: 153,726,810 (GRCm39)	H21Q	probably benign	Het
Tet1	T	C	10: 62,675,737 (GRCm39)	T780A	possibly damaging	Het
Thbs1	T	A	2: 117,952,989 (GRCm39)	D866E	probably damaging	Het
Tmed4	A	G	11: 6,221,743 (GRCm39)	W198R	probably damaging	Het
Ttn	A	T	2: 76,749,575 (GRCm39)	C3825S	probably benign	Het
Uchl1	T	A	5: 66,833,754 (GRCm39)		probably benign	Het
Wsb2	A	G	5: 117,515,483 (GRCm39)	T363A	possibly damaging	Het
Zfp266	A	G	9: 20,417,332 (GRCm39)	Y19H	probably damaging	Het
Zkscan17	A	G	11: 59,378,086 (GRCm39)	C366R	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
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
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'- ATACAGCTTGGTCTGCCCTG -3'
(R):5'- AGATGACATCATGCATGCGC -3'

Sequencing Primer
(F):5'- GGGTTCTGTCCCTAGGCTC -3'
(R):5'- TGCTGCTGTCCCAAGAGTCAC -3'

Posted On

2016-12-15