Mutagenetix > Incidental Mutation

Incidental Mutation 'R0052:Pld4'

33062

Institutional Source

Beutler Lab

Gene Symbol

Pld4

Ensembl Gene

ENSMUSG00000052160

Gene Name

phospholipase D family member 4

Synonyms

thss

MMRRC Submission

038346-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0052 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112727089-112735420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112734291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 386 (F386I)

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: F386I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: F386I

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.2%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	T	C	19: 23,893,315 (GRCm39)	S438P	possibly damaging	Het
Atosa	A	G	9: 74,926,265 (GRCm39)		probably benign	Het
Atp2a1	A	G	7: 126,057,069 (GRCm39)		probably benign	Het
Axin2	T	C	11: 108,840,096 (GRCm39)	Y735H	probably damaging	Het
Bicd2	T	A	13: 49,528,790 (GRCm39)	L184Q	probably damaging	Het
Bub1	G	A	2: 127,650,959 (GRCm39)	T618I	probably benign	Het
Catsperg2	A	G	7: 29,424,445 (GRCm39)		probably benign	Het
Ccdc73	T	A	2: 104,759,915 (GRCm39)		probably benign	Het
Crybg3	A	T	16: 59,386,019 (GRCm39)		probably benign	Het
Dsp	A	G	13: 38,381,340 (GRCm39)	D2096G	possibly damaging	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Elp3	A	G	14: 65,768,975 (GRCm39)	*548Q	probably null	Het
Eno4	A	G	19: 58,956,985 (GRCm39)	D357G	probably damaging	Het
Fcrl2	A	T	3: 87,164,085 (GRCm39)	I348N	possibly damaging	Het
Fgl2	A	T	5: 21,580,347 (GRCm39)	S230C	probably damaging	Het
Ginm1	T	A	10: 7,655,070 (GRCm39)	E57D	possibly damaging	Het
Gtf3c1	A	T	7: 125,267,143 (GRCm39)		probably null	Het
Herc1	G	T	9: 66,307,438 (GRCm39)	G1044V	probably damaging	Het
Hmcn1	G	A	1: 150,553,157 (GRCm39)	T2511M	probably damaging	Het
Iba57	C	T	11: 59,049,727 (GRCm39)	A207T	probably benign	Het
Itga9	T	A	9: 118,465,617 (GRCm39)	I157N	probably damaging	Het
Kalrn	A	G	16: 34,177,541 (GRCm39)	L208P	probably damaging	Het
Kcnj10	A	G	1: 172,196,491 (GRCm39)	T2A	probably benign	Het
Kdm1b	T	A	13: 47,217,593 (GRCm39)	C351S	probably damaging	Het
Kif21a	T	C	15: 90,855,060 (GRCm39)	E700G	probably damaging	Het
Mmd	C	T	11: 90,150,824 (GRCm39)		probably benign	Het
Mocs3	C	T	2: 168,073,602 (GRCm39)	P350S	probably benign	Het
Morn3	T	C	5: 123,184,726 (GRCm39)	Y38C	probably damaging	Het
Nacc1	A	T	8: 85,402,854 (GRCm39)	V313D	probably benign	Het
Nbeal1	T	A	1: 60,267,771 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,163,992 (GRCm39)	K1989E	possibly damaging	Het
Nlrp3	C	T	11: 59,455,954 (GRCm39)	R917*	probably null	Het
Nlrp4b	T	A	7: 10,459,889 (GRCm39)	Y463*	probably null	Het
Perm1	A	T	4: 156,302,572 (GRCm39)	D372V	probably damaging	Het
Phf3	T	C	1: 30,847,848 (GRCm39)	T1232A	probably damaging	Het
Phldb3	G	A	7: 24,312,004 (GRCm39)	R106Q	probably benign	Het
Prex2	T	A	1: 11,230,380 (GRCm39)	L802Q	probably damaging	Het
Psd3	A	G	8: 68,335,631 (GRCm39)		probably null	Het
Ralgds	T	A	2: 28,434,400 (GRCm39)		probably null	Het
Rmdn2	A	G	17: 79,957,760 (GRCm39)	E16G	probably damaging	Het
Rnf111	A	T	9: 70,383,671 (GRCm39)	S87R	probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc9c1	A	G	16: 45,427,219 (GRCm39)		probably benign	Het
Slco3a1	A	T	7: 74,154,074 (GRCm39)	I166N	probably benign	Het
Snx5	A	T	2: 144,101,112 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,636,732 (GRCm39)	D741G	possibly damaging	Het
St8sia2	G	T	7: 73,593,038 (GRCm39)	Y339*	probably null	Het
St8sia2	A	T	7: 73,621,700 (GRCm39)	W86R	probably damaging	Het
Stk33	A	G	7: 108,878,876 (GRCm39)	L491P	possibly damaging	Het
Sult2a7	T	C	7: 14,199,133 (GRCm39)	Y298C	probably damaging	Het
Tdo2	T	A	3: 81,874,332 (GRCm39)	N210I	probably benign	Het
Thada	A	T	17: 84,762,586 (GRCm39)	N104K	probably damaging	Het
Timm8b	A	T	9: 50,516,330 (GRCm39)	D61V	possibly damaging	Het
Tshz1	G	A	18: 84,033,070 (GRCm39)	T446I	possibly damaging	Het
Ubap2l	T	C	3: 89,946,235 (GRCm39)	N123S	possibly damaging	Het
Vmn1r48	T	C	6: 90,013,246 (GRCm39)	E193G	possibly damaging	Het
Vmn1r69	C	T	7: 10,314,327 (GRCm39)	V135I	probably benign	Het
Vmn2r103	G	T	17: 20,031,903 (GRCm39)	G559V	probably benign	Het
Vmn2r26	T	A	6: 124,038,992 (GRCm39)	*856R	probably null	Het
Vmn2r88	A	G	14: 51,656,157 (GRCm39)	I798V	possibly damaging	Het
Vsir	C	T	10: 60,193,861 (GRCm39)	A108V	probably benign	Het
Zfp14	G	T	7: 29,737,753 (GRCm39)	Q411K	probably damaging	Het
Zfp236	A	T	18: 82,657,457 (GRCm39)	M762K	probably damaging	Het
Zfp462	G	A	4: 55,011,762 (GRCm39)	G1243S	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
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
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'- TCCTGGTTGGCAAGTCCTAGACAC -3'
(R):5'- TGTTGGAATGATTTCCCACAGGCAC -3'

Sequencing Primer
(F):5'- GTCCTAGACACAGTGTACCTG -3'
(R):5'- CAGGCACGATGAAGACTTTC -3'

Posted On

2013-05-09