Mutagenetix > Incidental Mutation

Incidental Mutation 'R0724:Plcxd3'

63831

Institutional Source

Beutler Lab

Gene Symbol

Plcxd3

Ensembl Gene

ENSMUSG00000049148

Gene Name

phosphatidylinositol-specific phospholipase C, X domain containing 3

Synonyms

MMRRC Submission

038906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R0724 (G1)

Quality Score

154

Status

Validated

Chromosome

Chromosomal Location

4375491-4575553 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4516868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 118 (S118N)

Ref Sequence

ENSEMBL: ENSMUSP00000053553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061925] [ENSMUST00000130332]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000061925
AA Change: S118N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053553
Gene: ENSMUSG00000049148
AA Change: S118N

Domain	Start	End	E-Value	Type
SCOP:d2ptd__	2	311	2e-62	SMART
PDB:1AOD\|A	7	166	1e-8	PDB
Blast:PLCXc	23	148	3e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130332

Meta Mutation Damage Score

0.1339

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 145,044,763	E136G	probably benign	Het
Adgre4	T	A	17: 55,852,281	S655R	probably benign	Het
Ak7	T	A	12: 105,710,254	V71E	probably benign	Het
Ank2	C	T	3: 126,962,337	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,828,748	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,592,439	I109N	possibly damaging	Het
Camta1	A	G	4: 151,077,892	I119T	probably damaging	Het
Carm1	A	G	9: 21,587,374	Y504C	probably damaging	Het
Casp1	C	T	9: 5,303,077	P177L	probably benign	Het
Ccdc122	C	A	14: 77,092,077		probably benign	Het
Ces1a	A	G	8: 93,039,513	S158P	probably damaging	Het
Ces3a	T	A	8: 105,050,195	D103E	possibly damaging	Het
Clstn1	A	C	4: 149,643,624	D583A	possibly damaging	Het
Corin	A	G	5: 72,332,795		probably benign	Het
Cryba1	T	C	11: 77,719,457	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377		probably null	Het
Dis3l	T	C	9: 64,307,126	T1027A	possibly damaging	Het
Dopey2	A	G	16: 93,762,325	E653G	probably benign	Het
Dst	A	G	1: 34,188,677	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,130,140	T64A	probably benign	Het
Emp2	C	T	16: 10,284,615	C111Y	probably benign	Het
Enam	A	G	5: 88,501,994	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,352,064	C1328S	probably benign	Het
Gata3	T	C	2: 9,874,575	T197A	probably benign	Het
Gm1043	A	G	5: 37,187,229	T212A	probably damaging	Het
Gm15448	T	C	7: 3,816,872	N564S	possibly damaging	Het
H2-Eb1	T	C	17: 34,315,032		probably benign	Het
Hand1	T	C	11: 57,831,680	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,297,001	Y239*	probably null	Het
Hoxc12	A	G	15: 102,937,055	Y68C	probably damaging	Het
Inpp5a	A	G	7: 139,516,663	I143V	probably benign	Het
Klhdc2	C	A	12: 69,297,048	F18L	probably benign	Het
Kpnb1	T	C	11: 97,178,304	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,637,308	N315I	probably damaging	Het
Map3k10	A	C	7: 27,668,355	V286G	probably damaging	Het
Myo7b	G	A	18: 32,005,549		probably benign	Het
Nlrp2	G	T	7: 5,319,222	L809I	probably damaging	Het
Oacyl	T	C	18: 65,737,825		probably benign	Het
Olfr735	A	G	14: 50,345,917	V175A	possibly damaging	Het
Paxbp1	T	A	16: 91,036,536	D270V	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Plcb3	G	A	19: 6,963,392	R359C	probably damaging	Het
Ptpn14	T	C	1: 189,850,947	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,323,973	I443V	possibly damaging	Het
Slc7a8	G	A	14: 54,735,186		probably benign	Het
Smim14	A	G	5: 65,453,339		probably benign	Het
Sost	C	T	11: 101,966,918	C19Y	probably benign	Het
Tcaf1	G	T	6: 42,675,367	A727E	probably damaging	Het
Thoc1	T	C	18: 9,963,829	L144P	probably damaging	Het
Tmem132b	A	T	5: 125,783,421	T577S	possibly damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tshr	T	C	12: 91,538,286	F666S	probably damaging	Het
Wdr1	A	G	5: 38,540,862	V192A	possibly damaging	Het
Zfp697	T	C	3: 98,428,166	W416R	probably damaging	Het

Other mutations in Plcxd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02642:Plcxd3	APN	15	4516640	missense	possibly damaging	0.91
IGL02743:Plcxd3	APN	15	4574803	missense	possibly damaging	0.92
IGL03230:Plcxd3	APN	15	4516790	missense	probably damaging	0.99
R0599:Plcxd3	UTSW	15	4516867	missense	probably damaging	0.96
R0939:Plcxd3	UTSW	15	4516862	nonsense	probably null
R1536:Plcxd3	UTSW	15	4516611	splice site	probably benign
R1648:Plcxd3	UTSW	15	4375809	missense	probably benign
R1858:Plcxd3	UTSW	15	4516611	splice site	probably benign
R2418:Plcxd3	UTSW	15	4574763	missense	probably benign	0.04
R2419:Plcxd3	UTSW	15	4574763	missense	probably benign	0.04
R4640:Plcxd3	UTSW	15	4517243	missense	probably damaging	0.99
R4702:Plcxd3	UTSW	15	4375787	missense	probably benign
R5372:Plcxd3	UTSW	15	4574788	missense	probably benign
R5705:Plcxd3	UTSW	15	4517194	missense	probably benign	0.43
R6302:Plcxd3	UTSW	15	4516757	missense	probably damaging	1.00
R7050:Plcxd3	UTSW	15	4516718	missense	probably damaging	0.96
R7283:Plcxd3	UTSW	15	4516919	missense	probably damaging	0.97
R7856:Plcxd3	UTSW	15	4517099	missense	probably damaging	0.98
R8233:Plcxd3	UTSW	15	4516835	missense	possibly damaging	0.77
R8272:Plcxd3	UTSW	15	4516736	missense	probably damaging	0.99
R8782:Plcxd3	UTSW	15	4516768	missense	probably benign	0.27
R9517:Plcxd3	UTSW	15	4375678	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGTTCGGAACTGTAGCCAAGAAG -3'
(R):5'- ATCATCTGTCCAGGCCAGAGGAAG -3'

Sequencing Primer
(F):5'- CTGTAGCCAAGAAGTTGATGC -3'
(R):5'- TCACTTCCTGGGCAAAAATGG -3'

Posted On

2013-07-30