Mutagenetix > Incidental Mutation

Incidental Mutation 'R6345:Plcxd1'

514099

Institutional Source

Beutler Lab

Gene Symbol

Plcxd1

Ensembl Gene

ENSMUSG00000064247

Gene Name

phosphatidylinositol-specific phospholipase C, X domain containing 1

Synonyms

LOC231597, A330045H12Rik

MMRRC Submission

044499-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110247835-110253819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110248165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 38 (V38A)

Ref Sequence

ENSEMBL: ENSMUSP00000083892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077220] [ENSMUST00000086687] [ENSMUST00000112534] [ENSMUST00000135409] [ENSMUST00000141066]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000077220

SMART Domains

Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434

Domain	Start	End	E-Value	Type
low complexity region	50	83	N/A	INTRINSIC
Pfam:GTP-bdg_N	107	198	9.1e-15	PFAM
Pfam:GTP-bdg_M	200	279	1.9e-17	PFAM
Pfam:MMR_HSR1	286	404	3.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086687
AA Change: V38A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247
AA Change: V38A

Domain	Start	End	E-Value	Type
SCOP:d2ptd__	48	355	1e-70	SMART
PDB:1AOD\|A	57	228	1e-12	PDB
Blast:PLCXc	70	228	8e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000112534

SMART Domains

Protein: ENSMUSP00000108153
Gene: ENSMUSG00000064247

Domain	Start	End	E-Value	Type
SCOP:d2ptd__	1	111	2e-21	SMART
PDB:1AOD\|A	7	95	3e-6	PDB
Blast:PLCXc	15	121	4e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127628

Predicted Effect

probably benign
Transcript: ENSMUST00000135409

SMART Domains

Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434

Domain	Start	End	E-Value	Type
low complexity region	162	173	N/A	INTRINSIC
coiled coil region	185	218	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199496

Predicted Effect

probably benign
Transcript: ENSMUST00000141066

SMART Domains

Protein: ENSMUSP00000119248
Gene: ENSMUSG00000064247

Domain	Start	End	E-Value	Type
SCOP:d2ptd__	1	97	6e-20	SMART
PDB:1AOD\|A	7	95	3e-6	PDB
Blast:PLCXc	15	99	5e-7	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,913 (GRCm39)	I121T	probably benign	Het
4921524L21Rik	T	A	18: 6,626,399 (GRCm39)	M137K	possibly damaging	Het
Angpt4	C	A	2: 151,771,354 (GRCm39)	N223K	probably benign	Het
Ankrd6	T	C	4: 32,810,266 (GRCm39)	R437G	probably damaging	Het
Atp9a	C	T	2: 168,518,093 (GRCm39)	S264N	probably damaging	Het
AY358078	A	C	14: 52,063,749 (GRCm39)	Y465S	probably damaging	Het
Bin3	G	A	14: 70,374,676 (GRCm39)	R235Q	probably benign	Het
Bsn	G	A	9: 107,984,554 (GRCm39)	P3167S	unknown	Het
Camk2g	G	A	14: 20,787,443 (GRCm39)	R274C	probably damaging	Het
Ccdc61	A	T	7: 18,643,914 (GRCm39)		probably null	Het
Ccnjl	A	T	11: 43,476,165 (GRCm39)	T263S	probably benign	Het
Col17a1	G	T	19: 47,641,818 (GRCm39)	P944T	possibly damaging	Het
Cyp2c39	A	T	19: 39,501,615 (GRCm39)		probably null	Het
Cyp2c39	G	T	19: 39,501,616 (GRCm39)		probably null	Het
Cyp4a32	T	C	4: 115,459,560 (GRCm39)	V98A	possibly damaging	Het
Dnah9	A	G	11: 65,928,519 (GRCm39)	V2050A	probably damaging	Het
F5	A	G	1: 164,019,520 (GRCm39)	N665S	probably benign	Het
Fbxl6	A	T	15: 76,420,054 (GRCm39)	C520S	probably damaging	Het
Fscn2	C	A	11: 120,252,853 (GRCm39)	H107N	probably damaging	Het
Gfm2	C	T	13: 97,299,461 (GRCm39)	T367M	probably damaging	Het
Gle1	C	G	2: 29,826,127 (GRCm39)	P69A	probably benign	Het
Gpr156	A	T	16: 37,807,881 (GRCm39)	D176V	probably damaging	Het
Grip2	A	G	6: 91,742,369 (GRCm39)	S895P	possibly damaging	Het
Hfm1	C	T	5: 106,989,504 (GRCm39)	G1404D	probably benign	Het
Ifit1bl1	G	A	19: 34,571,570 (GRCm39)	R296*	probably null	Het
Ighv1-39	C	T	12: 114,878,479 (GRCm39)	V31M	possibly damaging	Het
Itgav	A	G	2: 83,632,380 (GRCm39)	E956G	probably damaging	Het
Katnip	C	A	7: 125,352,159 (GRCm39)	D26E	probably damaging	Het
Lsm8	A	G	6: 18,853,644 (GRCm39)	D86G	probably damaging	Het
Mdh1b	T	G	1: 63,754,398 (GRCm39)	H390P	possibly damaging	Het
Mtrf1l	A	T	10: 5,767,468 (GRCm39)	I216N	possibly damaging	Het
Muc16	G	A	9: 18,566,222 (GRCm39)	T2099I	unknown	Het
Myh7	T	C	14: 55,221,149 (GRCm39)	R925G	probably damaging	Het
Myo1h	T	A	5: 114,489,769 (GRCm39)	I658N	probably damaging	Het
Myo5a	A	T	9: 75,097,195 (GRCm39)	D81V	possibly damaging	Het
Nell1	G	A	7: 49,625,171 (GRCm39)	C12Y	possibly damaging	Het
Obscn	T	C	11: 58,944,522 (GRCm39)	Y4724C	probably damaging	Het
Or8k53	A	G	2: 86,177,892 (GRCm39)	Y73H	probably damaging	Het
Pah	G	A	10: 87,412,049 (GRCm39)	D315N	probably damaging	Het
Per2	A	G	1: 91,376,444 (GRCm39)	V143A	probably damaging	Het
Pld1	A	G	3: 28,184,896 (GRCm39)		probably benign	Het
Plekhh2	A	G	17: 84,883,215 (GRCm39)	N761S	probably benign	Het
Polh	T	C	17: 46,493,664 (GRCm39)	I318V	probably benign	Het
Prex1	T	C	2: 166,414,880 (GRCm39)	Q1323R	probably null	Het
Rb1cc1	T	A	1: 6,333,481 (GRCm39)	S1440T	probably benign	Het
Rbm19	G	T	5: 120,265,105 (GRCm39)	W382L	possibly damaging	Het
Rchy1	T	C	5: 92,105,801 (GRCm39)	D49G	probably benign	Het
Ric1	A	G	19: 29,581,485 (GRCm39)	D1402G	probably benign	Het
S1pr3	G	T	13: 51,573,067 (GRCm39)	A83S	probably damaging	Het
S1pr3	C	A	13: 51,573,068 (GRCm39)	A83D	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpinb9c	T	C	13: 33,333,978 (GRCm39)	R355G	probably damaging	Het
Slx4	G	C	16: 3,808,714 (GRCm39)	Q409E	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Specc1l	G	T	10: 75,084,322 (GRCm39)	D682Y	probably damaging	Het
Spen	C	T	4: 141,198,944 (GRCm39)	V3228I	possibly damaging	Het
Strip1	T	C	3: 107,535,516 (GRCm39)	E69G	probably damaging	Het
Tasp1	C	A	2: 139,793,457 (GRCm39)	V240L	probably damaging	Het
Tdrd9	T	A	12: 112,001,042 (GRCm39)	F787L	probably damaging	Het
Vmn1r228	A	G	17: 20,997,144 (GRCm39)	S125P	probably damaging	Het
Wdhd1	A	G	14: 47,489,379 (GRCm39)	M718T	probably damaging	Het

Other mutations in Plcxd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01776:Plcxd1	APN	5	110,249,246 (GRCm39)	splice site	probably benign
IGL02268:Plcxd1	APN	5	110,248,140 (GRCm39)	unclassified	probably benign
IGL02870:Plcxd1	APN	5	110,249,271 (GRCm39)	missense	probably damaging	1.00
R0066:Plcxd1	UTSW	5	110,249,368 (GRCm39)	missense	probably damaging	1.00
R1366:Plcxd1	UTSW	5	110,250,096 (GRCm39)	missense	probably damaging	1.00
R1912:Plcxd1	UTSW	5	110,251,308 (GRCm39)	missense	probably benign	0.01
R2698:Plcxd1	UTSW	5	110,250,349 (GRCm39)	missense	probably benign	0.31
R5135:Plcxd1	UTSW	5	110,249,229 (GRCm39)	intron	probably benign
R5604:Plcxd1	UTSW	5	110,250,451 (GRCm39)	missense	probably benign	0.00
R6190:Plcxd1	UTSW	5	110,250,469 (GRCm39)	missense	probably damaging	1.00
R6351:Plcxd1	UTSW	5	110,250,033 (GRCm39)	splice site	probably null
R6696:Plcxd1	UTSW	5	110,249,751 (GRCm39)	missense	possibly damaging	0.83
R7743:Plcxd1	UTSW	5	110,250,369 (GRCm39)	missense	possibly damaging	0.95
R7959:Plcxd1	UTSW	5	110,251,422 (GRCm39)	missense	probably damaging	1.00
R8316:Plcxd1	UTSW	5	110,250,180 (GRCm39)	missense	probably benign	0.10
R8865:Plcxd1	UTSW	5	110,249,841 (GRCm39)	unclassified	probably benign
R8996:Plcxd1	UTSW	5	110,250,444 (GRCm39)	missense	probably benign	0.00
R9430:Plcxd1	UTSW	5	110,251,368 (GRCm39)	missense	probably benign	0.06
R9682:Plcxd1	UTSW	5	110,251,477 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGACTTAACTGCGCTGG -3'
(R):5'- TGTTCAGTCACTGACCTGCG -3'

Sequencing Primer
(F):5'- GACACGGTGCCTCAGTTTC -3'
(R):5'- CGGGTGTTCACGTGAGAC -3'

Posted On

2018-04-27