Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Pnldc1'

92037

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pnldc1

Ensembl Gene

ENSMUSG00000073460

Gene Name

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

Synonyms

LOC240023

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

13107616-13129117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13125415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 73 (M73K)

Ref Sequence

ENSEMBL: ENSMUSP00000129377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079121] [ENSMUST00000163394]

AlphaFold

B2RXZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000079121

SMART Domains

Protein: ENSMUSP00000078123
Gene: ENSMUSG00000057388

Domain	Start	End	E-Value	Type
PDB:4CE4\|S	1	180	1e-108	PDB
SCOP:d1jj2m_	78	141	2e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163394
AA Change: M73K

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129377
Gene: ENSMUSG00000073460
AA Change: M73K

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,141,856 (GRCm39)	V105A	probably benign	Het
Acr	T	C	15: 89,452,617 (GRCm39)	V18A	probably benign	Het
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 44,791,517 (GRCm39)	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,629,191 (GRCm39)	Y338N	probably benign	Het
Aox3	C	T	1: 58,208,953 (GRCm39)	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,644,353 (GRCm39)	S1535P	probably benign	Het
C4b	A	G	17: 34,961,993 (GRCm39)		probably benign	Het
Ccdc157	A	G	11: 4,098,781 (GRCm39)	C242R	probably damaging	Het
Cep135	T	A	5: 76,741,194 (GRCm39)	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,194,057 (GRCm39)		probably null	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Copb2	T	C	9: 98,463,203 (GRCm39)	S473P	probably damaging	Het
Cpb1	C	T	3: 20,306,118 (GRCm39)		probably null	Het
Cpsf1	A	G	15: 76,480,741 (GRCm39)	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,360,328 (GRCm39)	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,492,743 (GRCm39)	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,272,421 (GRCm39)	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,077,482 (GRCm39)	V287M	probably damaging	Het
Fras1	T	C	5: 96,857,750 (GRCm39)	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,258,985 (GRCm39)		probably benign	Het
Gprc5c	A	G	11: 114,755,078 (GRCm39)	I252V	probably benign	Het
Ints3	C	T	3: 90,301,629 (GRCm39)		probably null	Het
L1td1	A	G	4: 98,625,581 (GRCm39)	D592G	probably damaging	Het
Lamb3	A	G	1: 193,025,720 (GRCm39)	M1137V	probably benign	Het
Leng8	C	A	7: 4,148,481 (GRCm39)	A751E	probably benign	Het
Lfng	T	C	5: 140,598,290 (GRCm39)	V204A	probably damaging	Het
Lsm14b	A	G	2: 179,674,396 (GRCm39)	D233G	probably damaging	Het
Map4	C	T	9: 109,863,836 (GRCm39)	P354S	probably benign	Het
Mapt	G	A	11: 104,185,741 (GRCm39)	V53M	probably damaging	Het
Mier1	T	G	4: 103,012,738 (GRCm39)	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,399,660 (GRCm39)	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,875 (GRCm39)	A257V	probably damaging	Het
Nup188	T	C	2: 30,217,537 (GRCm39)	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,258,750 (GRCm39)	S333P	probably damaging	Het
Or7g30	T	G	9: 19,353,111 (GRCm39)	F301V	probably benign	Het
Or9a4	A	C	6: 40,549,186 (GRCm39)	I289L	probably damaging	Het
Pbxip1	C	A	3: 89,350,897 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,633,124 (GRCm39)	C38F	probably damaging	Het
Plb1	A	T	5: 32,499,888 (GRCm39)		probably benign	Het
Plcz1	T	C	6: 139,947,982 (GRCm39)		probably benign	Het
Plxnb1	T	C	9: 108,939,672 (GRCm39)	V1447A	probably damaging	Het
Psg20	C	T	7: 18,414,963 (GRCm39)	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,478,155 (GRCm39)		probably null	Het
Rabgap1	T	C	2: 37,446,281 (GRCm39)	V859A	probably damaging	Het
Rad51b	T	A	12: 79,374,002 (GRCm39)	S194T	probably benign	Het
Rb1cc1	C	T	1: 6,318,995 (GRCm39)	Q788*	probably null	Het
Ror2	C	T	13: 53,265,653 (GRCm39)	G468R	probably damaging	Het
Slamf7	A	G	1: 171,468,754 (GRCm39)	I46T	possibly damaging	Het
Stab2	A	G	10: 86,758,759 (GRCm39)	S1060P	probably damaging	Het
Syndig1	T	A	2: 149,845,203 (GRCm39)	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,266,317 (GRCm39)	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,436,616 (GRCm39)		probably benign	Het
Trav21-dv12	T	C	14: 54,114,188 (GRCm39)	Y103H	probably damaging	Het
Tut4	T	C	4: 108,370,596 (GRCm39)	S871P	possibly damaging	Het
Ubr3	T	C	2: 69,768,522 (GRCm39)	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,069,520 (GRCm39)	C749F	probably damaging	Het
Ulk2	G	T	11: 61,682,262 (GRCm39)	S751*	probably null	Het
Wrn	G	A	8: 33,731,039 (GRCm39)	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,385,508 (GRCm39)	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,547,163 (GRCm39)	S223P	probably damaging	Het

Other mutations in Pnldc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Pnldc1	APN	17	13,124,645 (GRCm39)	splice site	probably benign
IGL02109:Pnldc1	APN	17	13,124,425 (GRCm39)	missense	probably benign	0.01
R0022:Pnldc1	UTSW	17	13,109,006 (GRCm39)	missense	probably damaging	1.00
R0423:Pnldc1	UTSW	17	13,108,963 (GRCm39)	missense	possibly damaging	0.51
R1921:Pnldc1	UTSW	17	13,107,815 (GRCm39)	missense	possibly damaging	0.94
R1978:Pnldc1	UTSW	17	13,125,392 (GRCm39)	missense	possibly damaging	0.88
R2403:Pnldc1	UTSW	17	13,118,777 (GRCm39)	missense	probably damaging	1.00
R4027:Pnldc1	UTSW	17	13,109,666 (GRCm39)	missense	probably benign	0.01
R4574:Pnldc1	UTSW	17	13,111,669 (GRCm39)	missense	probably benign	0.01
R5148:Pnldc1	UTSW	17	13,111,676 (GRCm39)	missense	probably benign	0.00
R5381:Pnldc1	UTSW	17	13,109,283 (GRCm39)	missense	probably benign	0.07
R5973:Pnldc1	UTSW	17	13,113,260 (GRCm39)	missense	probably benign	0.07
R6073:Pnldc1	UTSW	17	13,109,250 (GRCm39)	missense	probably null	0.05
R6368:Pnldc1	UTSW	17	13,124,751 (GRCm39)	missense	probably damaging	1.00
R6551:Pnldc1	UTSW	17	13,124,456 (GRCm39)	missense	probably damaging	0.98
R7909:Pnldc1	UTSW	17	13,122,098 (GRCm39)	missense	probably benign	0.04
R8088:Pnldc1	UTSW	17	13,116,189 (GRCm39)	missense	probably damaging	1.00
R8724:Pnldc1	UTSW	17	13,111,703 (GRCm39)	missense	probably damaging	0.96
R8728:Pnldc1	UTSW	17	13,116,165 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09