Mutagenetix > Incidental Mutation

Incidental Mutation 'R9791:Pld4'

734637

Institutional Source

Beutler Lab

Gene Symbol

Pld4

Ensembl Gene

ENSMUSG00000052160

Gene Name

phospholipase D family, member 4

Synonyms

thss

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9791 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112760655-112768990 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112768428 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 440 (T440A)

Ref Sequence

ENSEMBL: ENSMUSP00000067002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063888] [ENSMUST00000101010] [ENSMUST00000128258]

AlphaFold

Q8BG07

Predicted Effect

probably damaging
Transcript: ENSMUST00000063888
AA Change: T440A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: T440A

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	T	A	11: 97,775,768	I31F	probably benign	Het
Abcb1a	T	C	5: 8,698,604	Y312H	probably damaging	Het
Abcc10	A	T	17: 46,322,259	I549N	probably damaging	Het
Agpat2	A	G	2: 26,596,383	Y134H	probably damaging	Het
Alms1	A	G	6: 85,619,443	D417G	probably benign	Het
Apol11b	T	A	15: 77,635,275	I202F	probably benign	Het
Arap1	C	A	7: 101,388,169	Q468K	probably benign	Het
Arhgef4	T	C	1: 34,793,364		probably null	Het
Asap3	A	T	4: 136,234,603	N285I	probably damaging	Het
Aspm	A	T	1: 139,480,637	I2421F	probably damaging	Het
Banp	C	A	8: 121,974,546	D17E	probably benign	Het
Bsx	T	G	9: 40,877,609	V154G	probably damaging	Het
Cacnb1	T	C	11: 98,009,360	D324G	probably damaging	Het
Ccdc170	A	T	10: 4,533,957		probably null	Het
Ccdc187	T	C	2: 26,281,215	H417R	probably benign	Het
Cct4	T	A	11: 22,999,070	M272K	probably damaging	Het
Chd9	A	G	8: 91,033,789	E2054G	possibly damaging	Het
Ctnnal1	A	T	4: 56,844,584	S127T	possibly damaging	Het
Cttnbp2	T	A	6: 18,376,028	H1504L	probably benign	Het
Cyp4a29	T	A	4: 115,251,183	M368K	probably damaging	Het
Dhx32	A	G	7: 133,724,538	F527L	probably benign	Het
Foxk1	T	C	5: 142,401,984	V154A	probably damaging	Het
Frem3	G	A	8: 80,613,261	E728K	probably benign	Het
Gemin5	G	A	11: 58,130,020	Q1114*	probably null	Het
Gm11567	C	T	11: 99,879,448	R71C	unknown	Het
Gm13272	T	C	4: 88,780,205	V119A	probably benign	Het
Gpc6	T	A	14: 116,926,023	C30S	probably damaging	Het
Gprc6a	A	C	10: 51,615,299	F785V	probably damaging	Het
Hormad1	T	C	3: 95,587,382	V368A	probably benign	Het
Hsd17b4	G	A	18: 50,191,840		probably null	Het
Il17ra	C	T	6: 120,482,279	S797F	probably damaging	Het
Jmjd6	A	G	11: 116,842,612	S80P	probably benign	Het
Klhdc2	T	A	12: 69,300,221	N53K	probably benign	Het
Klhl30	C	T	1: 91,354,367	P230L	probably benign	Het
March1	C	A	8: 66,276,687	A46E	probably benign	Het
Mast4	T	C	13: 102,754,197	T1050A	probably benign	Het
Mpp7	T	C	18: 7,355,049	N459S	probably benign	Het
Mtfr1l	A	G	4: 134,530,752	V53A	probably benign	Het
Myh11	T	A	16: 14,208,128	E1326V		Het
Myh3	A	G	11: 67,101,179	E1850G	probably damaging	Het
Myo16	A	G	8: 10,569,925	D1492G	unknown	Het
Myo3b	C	A	2: 70,349,943	H1219Q	probably benign	Het
Nphp4	A	T	4: 152,562,148	Q1379L	probably null	Het
Olfr1500	A	G	19: 13,827,550	I282T	probably benign	Het
Olfr948	C	T	9: 39,319,519	V32I	probably benign	Het
Osbpl6	T	G	2: 76,555,017	L265R	probably damaging	Het
Prr14	T	C	7: 127,471,956	M1T	probably null	Het
Ptger4	A	T	15: 5,243,697	M1K	probably null	Het
Ptpn22	A	T	3: 103,888,526	T608S	possibly damaging	Het
S1pr2	A	G	9: 20,968,023	W170R	probably damaging	Het
Specc1l	A	G	10: 75,230,769	I17M	probably benign	Het
Sptbn4	C	G	7: 27,372,237	G1601R	probably damaging	Het
Sqor	C	T	2: 122,784,992	P11L	probably benign	Het
Stac2	T	C	11: 98,043,623	D85G	probably benign	Het
Svs2	G	A	2: 164,236,998	Q330*	probably null	Het
Taar7e	A	G	10: 24,037,656	I15V	probably benign	Het
Tcf4	A	T	18: 69,636,936	Y275F	probably damaging	Het
Tenm4	A	G	7: 96,888,839	N1873S	probably damaging	Het
Tert	T	A	13: 73,627,529	V133D	probably benign	Het
Tfap2a	T	A	13: 40,717,182	N410I	probably damaging	Het
Tjp3	A	T	10: 81,273,860	D836E	probably benign	Het
Tox3	A	T	8: 90,248,578	M475K	unknown	Het
Traf4	A	T	11: 78,160,153	D392E	probably damaging	Het
Vav2	A	G	2: 27,291,813	L338P	probably damaging	Het
Vmn1r81	T	C	7: 12,260,186	N165S	probably benign	Het
Vmn2r9	A	T	5: 108,847,543	V413E	probably damaging	Het
Wdr7	A	T	18: 63,777,988	D817V	probably damaging	Het
Zbtb38	G	A	9: 96,688,647	S128L	probably damaging	Het
Zfhx4	T	A	3: 5,399,862	H1718Q	probably damaging	Het
Zfp945	G	A	17: 22,852,254	H245Y	probably benign	Het

Other mutations in Pld4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Pld4	APN	12	112763491	missense	probably benign	0.01
IGL01839:Pld4	APN	12	112765079	missense	probably damaging	1.00
IGL01954:Pld4	APN	12	112767921	critical splice donor site	probably null
IGL02253:Pld4	APN	12	112766707	missense	probably damaging	1.00
IGL03149:Pld4	APN	12	112766829	missense	probably benign	0.00
IGL03278:Pld4	APN	12	112766731	missense	probably damaging	0.98
IGL03349:Pld4	APN	12	112767879	missense	probably benign	0.01
Lipodicum	UTSW	12	112765064	missense	probably damaging	1.00
PIT4403001:Pld4	UTSW	12	112767822	missense	probably damaging	1.00
PIT4468001:Pld4	UTSW	12	112767822	missense	probably damaging	1.00
R0052:Pld4	UTSW	12	112767857	missense	probably benign	0.03
R1078:Pld4	UTSW	12	112763442	missense	probably benign
R1756:Pld4	UTSW	12	112763392	splice site	probably null
R2006:Pld4	UTSW	12	112768489	missense	possibly damaging	0.89
R2037:Pld4	UTSW	12	112768558	missense	probably damaging	1.00
R3738:Pld4	UTSW	12	112768035	missense	probably benign	0.07
R4630:Pld4	UTSW	12	112765064	missense	probably damaging	1.00
R4911:Pld4	UTSW	12	112764517	missense	probably benign	0.01
R5008:Pld4	UTSW	12	112768050	missense	possibly damaging	0.89
R5263:Pld4	UTSW	12	112765031	missense	probably damaging	1.00
R5310:Pld4	UTSW	12	112768612	missense	probably damaging	1.00
R5386:Pld4	UTSW	12	112763988	nonsense	probably null
R5513:Pld4	UTSW	12	112762554	missense	probably benign
R5788:Pld4	UTSW	12	112764117	missense	probably benign
R6085:Pld4	UTSW	12	112766886	missense	probably benign	0.01
R6157:Pld4	UTSW	12	112768101	missense	probably damaging	1.00
R6702:Pld4	UTSW	12	112765051	missense	probably damaging	1.00
R6767:Pld4	UTSW	12	112764115	missense	possibly damaging	0.51
R6962:Pld4	UTSW	12	112766854	missense	probably benign	0.00
R7864:Pld4	UTSW	12	112765123	missense	probably damaging	1.00
R8792:Pld4	UTSW	12	112763490	missense	probably benign	0.00
R8826:Pld4	UTSW	12	112766776	missense	possibly damaging	0.95
R9790:Pld4	UTSW	12	112768428	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACACTTAGCCCAGCTTGC -3'
(R):5'- CTTGTCTGTCTAGGTCCATAGC -3'

Sequencing Primer
(F):5'- AGCTTGCCAGGTGAAGTC -3'
(R):5'- TAGCATAGTGGGAACTCCAGTCTC -3'

Posted On

2022-11-14