Mutagenetix > Incidental Mutations

Incidental Mutation 'R5148:Pnldc1'

395220

Institutional Source

Beutler Lab

Gene Symbol

Pnldc1

Ensembl Gene

ENSMUSG00000073460

Gene Name

poly(A)-specific ribonuclease (PARN)-like domain containing 1

Synonyms

LOC240023

MMRRC Submission

043262-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5148 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12888902-12910000 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12892789 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 344 (I344V)

Ref Sequence

ENSEMBL: ENSMUSP00000129377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163394]

Predicted Effect

probably benign
Transcript: ENSMUST00000163394
AA Change: I344V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000129377
Gene: ENSMUSG00000073460
AA Change: I344V

Domain	Start	End	E-Value	Type
Pfam:CAF1	3	373	1e-75	PFAM

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	A	T	3: 127,025,636		probably null	Het
Atf7	A	G	15: 102,547,173	M252T	probably benign	Het
Cacna1h	C	A	17: 25,387,545	D1027Y	probably damaging	Het
Cngb1	A	G	8: 95,265,983	V667A	probably benign	Het
Cntf	T	C	19: 12,764,004	E164G	probably damaging	Het
Dbt	T	C	3: 116,528,244		probably benign	Het
Egfem1	G	A	3: 29,457,823		probably benign	Het
Gm12790	C	T	4: 101,968,071	V49I	possibly damaging	Het
Gm5444	C	T	13: 4,834,315		noncoding transcript	Het
Gpcpd1	A	T	2: 132,534,190	Y574*	probably null	Het
Gss	G	T	2: 155,573,109	N225K	possibly damaging	Het
Il17rc	G	T	6: 113,482,997	A635S	probably benign	Het
Lhfpl5	T	A	17: 28,579,968	D150E	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lrrc40	T	G	3: 158,054,569		probably null	Het
Ly6f	A	G	15: 75,271,797	T118A	probably benign	Het
Malrd1	A	G	2: 16,142,226	N1960D	unknown	Het
Map3k14	T	C	11: 103,239,332	H253R	probably benign	Het
Morc2a	T	C	11: 3,689,084	L1025P	probably damaging	Het
Nlrc5	G	T	8: 94,476,693	G474W	probably damaging	Het
Olfr1162	G	A	2: 88,050,393	T77I	probably benign	Het
Olfr1487	C	A	19: 13,619,510	S116*	probably null	Het
Olfr894	T	C	9: 38,219,021	I66T	probably benign	Het
Olr1	G	T	6: 129,493,609	D198E	probably benign	Het
Pafah1b1	A	T	11: 74,684,452	S209T	probably damaging	Het
Phf14	A	T	6: 11,961,642	Y426F	possibly damaging	Het
Phldb1	A	G	9: 44,704,158	V855A	probably benign	Het
Pira2	T	G	7: 3,844,593	R32S	possibly damaging	Het
Prss29	T	C	17: 25,320,907	V93A	probably benign	Het
Ptpn13	C	T	5: 103,492,232	L186F	probably damaging	Het
Ralgps1	A	C	2: 33,158,987	C303W	probably damaging	Het
Sdr42e1	T	A	8: 117,663,603	N100Y	probably damaging	Het
Serpina11	A	T	12: 103,986,244	L96Q	probably damaging	Het
Slc12a8	G	A	16: 33,624,918	R448H	probably benign	Het
Snrpd1	T	A	18: 10,626,892	V53E	probably benign	Het
Ssbp1	T	C	6: 40,477,949	V114A	possibly damaging	Het
T	A	G	17: 8,436,205	E47G	probably damaging	Het
Tmem156	T	C	5: 65,073,768	K189R	probably benign	Het
Trim47	G	T	11: 116,107,852	Q314K	possibly damaging	Het
Vmn2r3	G	T	3: 64,278,826	P146Q	probably damaging	Het
Vmn2r6	A	C	3: 64,556,594	V273G	probably damaging	Het
Wrnip1	G	T	13: 32,806,856	R366L	probably damaging	Het
Zfp981	A	T	4: 146,536,900	H94L	possibly damaging	Het

Other mutations in Pnldc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Pnldc1	APN	17	12905758	splice site	probably benign
IGL01599:Pnldc1	APN	17	12906528	missense	probably benign	0.18
IGL02109:Pnldc1	APN	17	12905538	missense	probably benign	0.01
R0022:Pnldc1	UTSW	17	12890119	missense	probably damaging	1.00
R0423:Pnldc1	UTSW	17	12890076	missense	possibly damaging	0.51
R1921:Pnldc1	UTSW	17	12888928	missense	possibly damaging	0.94
R1978:Pnldc1	UTSW	17	12906505	missense	possibly damaging	0.88
R2403:Pnldc1	UTSW	17	12899890	missense	probably damaging	1.00
R4027:Pnldc1	UTSW	17	12890779	missense	probably benign	0.01
R4574:Pnldc1	UTSW	17	12892782	missense	probably benign	0.01
R5381:Pnldc1	UTSW	17	12890396	missense	probably benign	0.07
R5973:Pnldc1	UTSW	17	12894373	missense	probably benign	0.07
R6073:Pnldc1	UTSW	17	12890363	missense	probably null	0.05
R6368:Pnldc1	UTSW	17	12905864	missense	probably damaging	1.00
R6551:Pnldc1	UTSW	17	12905569	missense	probably damaging	0.98
R7909:Pnldc1	UTSW	17	12903211	missense	probably benign	0.04
R8088:Pnldc1	UTSW	17	12897302	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGAGAAAGCAGGTTCCTGTGC -3'
(R):5'- TCATCGGGGTCCATGCTTAG -3'

Sequencing Primer
(F):5'- CTAGCTTAGCATACCTGTAAGGCAG -3'
(R):5'- CATCGGGGTCCATGCTTAGATAATC -3'

Posted On

2016-06-21