Mutagenetix > Incidental Mutations

Incidental Mutation 'R5649:Plbd1'

441316

Institutional Source

Beutler Lab

Gene Symbol

Plbd1

Ensembl Gene

ENSMUSG00000030214

Gene Name

phospholipase B domain containing 1

Synonyms

1100001H23Rik

MMRRC Submission

043170-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136612070-136661928 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136616989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 376 (Y376F)

Ref Sequence

ENSEMBL: ENSMUSP00000032336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032336]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032336
AA Change: Y376F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000032336
Gene: ENSMUSG00000030214
AA Change: Y376F

Domain	Start	End	E-Value	Type
Pfam:Phospholip_B	16	545	3.7e-198	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204462

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,972	E33G	probably benign	Het
Abca12	T	C	1: 71,291,342	T1385A	probably damaging	Het
Apc2	T	A	10: 80,314,138	D1646E	probably damaging	Het
Aspm	G	A	1: 139,479,669	R2098H	probably benign	Het
Atl3	C	A	19: 7,532,227	T435N	possibly damaging	Het
Cdh22	G	T	2: 165,116,280	T589K	probably damaging	Het
Cnot3	T	C	7: 3,658,083	L561S	probably benign	Het
Col5a1	A	G	2: 27,951,456	D363G	unknown	Het
Cyp24a1	T	C	2: 170,496,309	D105G	possibly damaging	Het
Dennd4a	C	A	9: 64,851,209		probably null	Het
Dnah8	A	G	17: 30,800,587	K3878R	probably benign	Het
Dock4	T	C	12: 40,844,540	S1900P	probably benign	Het
Fancg	A	G	4: 43,008,736	L167P	probably damaging	Het
Ighd2-8	A	G	12: 113,450,867	S1P	possibly damaging	Het
Kif28	A	G	1: 179,697,771		probably null	Het
Mrpl55	T	A	11: 59,204,571	C20*	probably null	Het
Myo5a	A	G	9: 75,171,719	K920E	possibly damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Olfm3	A	G	3: 115,096,924	R76G	probably damaging	Het
Olfr304	T	C	7: 86,386,313	M116V	probably damaging	Het
Olfr705	T	C	7: 106,714,166	R172G	possibly damaging	Het
Pcdha12	A	T	18: 37,022,415	D729V	probably benign	Het
Phf11c	T	C	14: 59,385,532		probably null	Het
Phf20	T	A	2: 156,251,768		probably null	Het
Poglut1	A	G	16: 38,531,811	V257A	probably damaging	Het
Reln	A	G	5: 21,901,625	I3249T	probably benign	Het
Rgsl1	G	A	1: 153,825,893	P272S	possibly damaging	Het
Slc15a2	A	T	16: 36,772,110	Y197*	probably null	Het
Slc45a2	C	T	15: 11,012,607	T232I	probably benign	Het
Ssc5d	T	A	7: 4,926,518		probably null	Het
Thbs2	T	C	17: 14,689,953	Y128C	probably damaging	Het
Them4	A	T	3: 94,331,544	L219F	possibly damaging	Het
Tmem30b	G	T	12: 73,546,166	N58K	probably benign	Het
Ttc29	G	A	8: 78,246,313	E131K	possibly damaging	Het
Vmn1r29	C	G	6: 58,307,691	S132C	probably benign	Het
Vmn1r53	G	A	6: 90,223,760	A194V	probably benign	Het
Wdr86	A	T	5: 24,718,087	H202Q	probably benign	Het
Xirp2	A	G	2: 67,516,895	D3160G	probably benign	Het
Xkr5	T	C	8: 18,933,966	D520G	probably benign	Het
Zfp607b	T	G	7: 27,703,981	C621G	probably damaging	Het

Other mutations in Plbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Plbd1	APN	6	136634470	missense	probably benign
IGL02131:Plbd1	APN	6	136661683	utr 5 prime	probably benign
R0355:Plbd1	UTSW	6	136641167	missense	possibly damaging	0.71
R0762:Plbd1	UTSW	6	136641147	missense	probably damaging	1.00
R1019:Plbd1	UTSW	6	136651905	missense	probably benign	0.03
R1456:Plbd1	UTSW	6	136613816	missense	probably benign	0.12
R1607:Plbd1	UTSW	6	136612306	missense	probably benign	0.04
R1640:Plbd1	UTSW	6	136640125	missense	probably benign	0.00
R2166:Plbd1	UTSW	6	136613790	critical splice donor site	probably null
R2909:Plbd1	UTSW	6	136634574	missense	probably damaging	1.00
R4494:Plbd1	UTSW	6	136613858	missense	probably damaging	1.00
R4529:Plbd1	UTSW	6	136651825	missense	probably benign	0.04
R4530:Plbd1	UTSW	6	136651825	missense	probably benign	0.04
R5206:Plbd1	UTSW	6	136641156	missense	probably benign	0.17
R5272:Plbd1	UTSW	6	136640158	missense	probably damaging	1.00
R5522:Plbd1	UTSW	6	136617300	missense	probably benign	0.31
R5879:Plbd1	UTSW	6	136634505	missense	probably damaging	1.00
R5940:Plbd1	UTSW	6	136613721	intron	probably benign
R6311:Plbd1	UTSW	6	136613947	missense	probably benign	0.09
R6590:Plbd1	UTSW	6	136635600	missense	probably damaging	1.00
R6657:Plbd1	UTSW	6	136617252	missense	probably damaging	0.99
R6690:Plbd1	UTSW	6	136635600	missense	probably damaging	1.00
R6842:Plbd1	UTSW	6	136635614	missense	probably benign	0.05
R6938:Plbd1	UTSW	6	136616987	missense	probably benign	0.00
R7000:Plbd1	UTSW	6	136612838	missense	probably benign	0.21
R7214:Plbd1	UTSW	6	136612831	missense	probably damaging	1.00
R7654:Plbd1	UTSW	6	136651866	missense	possibly damaging	0.47
R7744:Plbd1	UTSW	6	136617246	missense	probably benign	0.00
R7870:Plbd1	UTSW	6	136617328	missense	possibly damaging	0.81
R9275:Plbd1	UTSW	6	136617288	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTACCAGGATGCCCGTCAC -3'
(R):5'- CTATGTGCCTATGTCTAGCCTTACAG -3'

Sequencing Primer
(F):5'- AAGTGGTGTCATAGTAGCTCACCC -3'
(R):5'- GCCTTACAGTTGTTAATCAGTTGACG -3'

Posted On

2016-11-08