Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4403001:Pld4'

555491

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) question?

Stock #

PIT4403001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112727089-112735420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 112734256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 374 (L374R)

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: L374R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160
AA Change: L374R

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: 92.7%
3x: 90.5%
10x: 84.9%
20x: 73.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh4	T	C	3: 138,129,939 (GRCm39)	V255A	probably damaging	Het
Ahnak	T	C	19: 8,983,540 (GRCm39)	I1608T	possibly damaging	Het
Atm	A	T	9: 53,412,282 (GRCm39)	D955E	probably benign	Het
Cacybp	A	G	1: 160,033,764 (GRCm39)	S113P	probably damaging	Het
Cenpu	C	T	8: 47,015,564 (GRCm39)	P160S	possibly damaging	Het
Clstn3	C	T	6: 124,434,982 (GRCm39)	G348D	probably damaging	Het
Cmtr1	T	G	17: 29,917,047 (GRCm39)		probably null	Het
Dlgap2	T	C	8: 14,881,528 (GRCm39)	S867P	probably damaging	Het
Fbn1	A	T	2: 125,184,831 (GRCm39)	C1654S	probably damaging	Het
Fbxl3	G	A	14: 103,332,900 (GRCm39)	T26M	possibly damaging	Het
Garnl3	A	T	2: 32,880,770 (GRCm39)	L874Q	probably damaging	Het
Gcm2	A	G	13: 41,256,315 (GRCm39)	V478A	probably benign	Het
Gm1527	T	C	3: 28,972,134 (GRCm39)	I417T	possibly damaging	Het
Grip1	A	G	10: 119,765,833 (GRCm39)	E55G	probably damaging	Het
Ighv1-4	A	G	12: 114,450,824 (GRCm39)	S95P	probably damaging	Het
Jak3	C	T	8: 72,136,993 (GRCm39)	T723I	probably benign	Het
Jup	A	G	11: 100,268,913 (GRCm39)		probably null	Het
Kcng3	A	G	17: 83,895,611 (GRCm39)	L285S	probably damaging	Het
Kmt2b	G	A	7: 30,285,114 (GRCm39)	P593S	probably damaging	Het
Matcap1	T	C	8: 106,011,376 (GRCm39)	N253D	probably benign	Het
Mstn	T	C	1: 53,100,944 (GRCm39)	M7T	probably benign	Het
Myh2	A	T	11: 67,077,533 (GRCm39)	K889N	probably benign	Het
Myo5a	A	G	9: 75,124,805 (GRCm39)	T1787A	probably damaging	Het
Nlrp14	A	T	7: 106,784,099 (GRCm39)	Q607L	possibly damaging	Het
Ntf3	C	T	6: 126,078,789 (GRCm39)	R239Q	probably damaging	Het
Nup85	G	T	11: 115,472,646 (GRCm39)	R492L	probably damaging	Het
Ogfod3	A	C	11: 121,087,561 (GRCm39)		probably null	Het
Or1j18	T	A	2: 36,624,930 (GRCm39)	I199K	probably damaging	Het
Or4c115	T	A	2: 88,927,420 (GRCm39)	M284L	probably benign	Het
Or4k40	A	T	2: 111,251,165 (GRCm39)	F44I	probably benign	Het
Or52h2	A	G	7: 103,838,667 (GRCm39)	V249A	probably benign	Het
Or8d1	T	C	9: 38,766,676 (GRCm39)	I106T	probably benign	Het
Oxct2a	A	T	4: 123,216,237 (GRCm39)	D381E	probably damaging	Het
Pcdh20	G	C	14: 88,704,462 (GRCm39)	P946R	probably damaging	Het
Pdgfc	C	T	3: 81,082,268 (GRCm39)	P154S	probably damaging	Het
Phkg1	T	C	5: 129,894,772 (GRCm39)	T260A	probably benign	Het
Plekhj1	C	T	10: 80,632,293 (GRCm39)	D150N	unknown	Het
Plppr1	T	G	4: 49,337,648 (GRCm39)	N316K	probably benign	Het
Pola2	A	C	19: 6,009,074 (GRCm39)	S95A	possibly damaging	Het
Polq	G	A	16: 36,880,949 (GRCm39)	D1038N	probably benign	Het
Prim1	A	T	10: 127,858,745 (GRCm39)	I218L	probably benign	Het
Prkcz	A	G	4: 155,377,613 (GRCm39)		probably null	Het
Ptgr1	T	C	4: 58,968,794 (GRCm39)	K282E	probably benign	Het
Rbm5	A	G	9: 107,637,535 (GRCm39)	M132T	probably damaging	Het
Scn2a	C	T	2: 65,542,252 (GRCm39)	T785M	probably damaging	Het
Setx	A	G	2: 29,023,967 (GRCm39)	E141G	probably damaging	Het
Slc24a2	A	G	4: 86,950,523 (GRCm39)	F425L	probably benign	Het
Smarcc2	A	T	10: 128,298,893 (GRCm39)	H92L	probably damaging	Het
Tatdn1	C	G	15: 58,777,596 (GRCm39)	E220Q	probably damaging	Het
Tmc7	C	A	7: 118,146,623 (GRCm39)	Q488H	probably benign	Het
Tmc7	T	G	7: 118,146,624 (GRCm39)	Q488P	possibly damaging	Het
Tmem45b	C	T	9: 31,338,188 (GRCm39)	D264N	probably benign	Het
Tmtc4	A	C	14: 123,210,641 (GRCm39)	S72R	probably benign	Het
Tnc	C	A	4: 63,882,904 (GRCm39)	D1906Y	probably damaging	Het
Ubac1	A	T	2: 25,896,609 (GRCm39)	M302K	probably benign	Het
Ubox5	A	G	2: 130,442,597 (GRCm39)	I30T	probably damaging	Het
Vwce	A	G	19: 10,615,461 (GRCm39)	N114S	possibly damaging	Het
Xpo5	T	A	17: 46,550,495 (GRCm39)	D992E	probably benign	Het
Zfhx2	G	A	14: 55,312,437 (GRCm39)	P86S	probably benign	Het
Zfp335	T	C	2: 164,735,636 (GRCm39)	H1106R	possibly damaging	Het
Zfp653	T	A	9: 21,977,053 (GRCm39)	Q166L	probably damaging	Het
Zp3r	T	A	1: 130,510,609 (GRCm39)	N436I	possibly 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
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
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'- AGTATTTCCCTACCACGCGC -3'
(R):5'- CAGGCACGATGAAGACTTTCTTTG -3'

Sequencing Primer
(F):5'- ACCATGCCAGGTGGGTCTG -3'
(R):5'- CGATGAAGACTTTCTTTGGGGATTAG -3'

Posted On

2019-06-07