Mutagenetix > Incidental Mutation

Incidental Mutation 'R5828:Polr1d'

450255

Institutional Source

Beutler Lab

Gene Symbol

Polr1d

Ensembl Gene

ENSMUSG00000029642

Gene Name

polymerase (RNA) I polypeptide D

Synonyms

Rpo1-3, 16kDa, mRPA16, 1110003G10Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R5828 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

147013860-147048407 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 147014408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016664] [ENSMUST00000050970] [ENSMUST00000110557] [ENSMUST00000200993] [ENSMUST00000202444]

AlphaFold

P97304

Predicted Effect

probably benign
Transcript: ENSMUST00000016664

SMART Domains

Protein: ENSMUSP00000016664
Gene: ENSMUSG00000016520

Domain	Start	End	E-Value	Type
RING	51	88	2.06e-6	SMART
low complexity region	103	114	N/A	INTRINSIC
PDZ	242	317	2.25e-17	SMART
PDZ	348	421	2.97e-17	SMART
PDZ	474	553	7.37e-13	SMART
PDZ	606	683	1.27e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050970

SMART Domains

Protein: ENSMUSP00000058355
Gene: ENSMUSG00000029642

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_L_2	39	113	5.6e-30	PFAM
Pfam:RNA_pol_L	41	107	4.7e-13	PFAM
low complexity region	116	129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110557

SMART Domains

Protein: ENSMUSP00000106186
Gene: ENSMUSG00000029642

Domain	Start	End	E-Value	Type
low complexity region	105	116	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200993

Predicted Effect

probably benign
Transcript: ENSMUST00000202444

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: This gene encodes an RNA polymerase subunit that is a component of both the RNA polymerase I and RNA polymerase III complexes. RNA polymerase I is associated with transcription of pre-ribosomal RNAs, while RNA polymerase III is associated with transcription of small RNAs. Pseudogenes of this gene have been defined on chromosomes 4 and 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,432,144 (GRCm39)	D95G	unknown	Het
Arl10	T	A	13: 54,726,768 (GRCm39)	V182E	probably damaging	Het
Cacna1g	T	G	11: 94,347,980 (GRCm39)	S703R	probably damaging	Het
Ces2a	C	A	8: 105,465,956 (GRCm39)	T363N	probably benign	Het
Col14a1	G	A	15: 55,300,372 (GRCm39)	V967I	unknown	Het
Col22a1	A	T	15: 71,881,340 (GRCm39)	F4I	probably benign	Het
D630045J12Rik	A	G	6: 38,173,302 (GRCm39)	W289R	possibly damaging	Het
Disc1	A	G	8: 125,977,763 (GRCm39)	Q793R	probably damaging	Het
Dnhd1	C	T	7: 105,369,388 (GRCm39)	T4337I	probably benign	Het
Eif2b5	T	A	16: 20,321,536 (GRCm39)	V363D	possibly damaging	Het
Emsy	T	C	7: 98,242,699 (GRCm39)	T1147A	probably benign	Het
Epg5	T	A	18: 78,064,066 (GRCm39)	Y2048N	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Foxred1	A	G	9: 35,121,492 (GRCm39)		probably benign	Het
Gpaa1	T	C	15: 76,216,471 (GRCm39)		probably benign	Het
Gria4	A	C	9: 4,432,832 (GRCm39)	L784V	probably damaging	Het
Homer3	A	G	8: 70,738,956 (GRCm39)	Y105C	probably benign	Het
Hpgd	T	C	8: 56,772,106 (GRCm39)	S193P	probably benign	Het
Irf1	T	A	11: 53,666,762 (GRCm39)	W247R	probably benign	Het
Lpgat1	A	G	1: 191,508,494 (GRCm39)	Q344R	possibly damaging	Het
Luzp1	T	C	4: 136,267,993 (GRCm39)	V72A	probably damaging	Het
Malrd1	G	A	2: 15,531,464 (GRCm39)	V8M	probably benign	Het
Msmo1	T	C	8: 65,172,144 (GRCm39)	H253R	probably damaging	Het
Nom1	A	G	5: 29,640,124 (GRCm39)	K150R	possibly damaging	Het
Onecut1	A	G	9: 74,770,042 (GRCm39)	E155G	probably benign	Het
Or12k7	A	G	2: 36,959,001 (GRCm39)	H228R	probably benign	Het
Or14c46	T	A	7: 85,918,728 (GRCm39)	M90L	probably benign	Het
Or5p59	T	C	7: 107,703,005 (GRCm39)	V163A	possibly damaging	Het
Osbpl10	G	A	9: 114,890,944 (GRCm39)	V111M	probably damaging	Het
Pcdhgb6	T	C	18: 37,877,457 (GRCm39)	S722P	probably benign	Het
Plin4	T	A	17: 56,414,064 (GRCm39)	D187V	probably damaging	Het
Pmf1	T	C	3: 88,303,294 (GRCm39)	E89G	possibly damaging	Het
Ppp1r9a	T	C	6: 5,158,200 (GRCm39)	Y1006H	probably damaging	Het
Ppp2r5c	A	G	12: 110,537,134 (GRCm39)	K420E	probably benign	Het
Prdx1	T	C	4: 116,551,006 (GRCm39)	L159P	probably damaging	Het
Psmd6	G	T	14: 14,119,990 (GRCm38)	D39E	probably benign	Het
Rffl	T	C	11: 82,709,244 (GRCm39)	K60E	probably damaging	Het
Rspo2	A	T	15: 42,939,283 (GRCm39)	L169Q	probably damaging	Het
Sbf1	T	A	15: 89,172,837 (GRCm39)	D1892V	probably damaging	Het
Sbno2	G	A	10: 79,902,424 (GRCm39)	S475F	possibly damaging	Het
Serpina3i	T	A	12: 104,231,474 (GRCm39)	V37E	probably benign	Het
Siglecf	G	A	7: 43,001,137 (GRCm39)	C35Y	probably damaging	Het
Slc22a27	G	T	19: 7,903,767 (GRCm39)	D123E	probably damaging	Het
Smim23	T	A	11: 32,770,592 (GRCm39)	K105*	probably null	Het
Soat1	C	T	1: 156,265,318 (GRCm39)	S348N	probably benign	Het
Sp2	C	T	11: 96,851,811 (GRCm39)		probably benign	Het
St14	T	A	9: 31,002,803 (GRCm39)	H700L	probably damaging	Het
St3gal1	T	A	15: 66,985,634 (GRCm39)	K7*	probably null	Het
Tgm1	T	C	14: 55,943,011 (GRCm39)	K610E	probably benign	Het
Tob1	T	A	11: 94,104,583 (GRCm39)	Y40N	probably damaging	Het
Tob1	T	A	11: 94,104,585 (GRCm39)	Y40*	probably null	Het
Trpc4ap	A	G	2: 155,477,130 (GRCm39)		probably benign	Het
Ttc9	C	T	12: 81,678,450 (GRCm39)	P91L	probably benign	Het
Zbtb18	T	C	1: 177,275,446 (GRCm39)	S269P	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfyve16	A	T	13: 92,650,410 (GRCm39)	V858E	probably damaging	Het

Other mutations in Polr1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0208:Polr1d	UTSW	5	147,015,490 (GRCm39)	splice site	probably null
R6241:Polr1d	UTSW	5	147,015,533 (GRCm39)	missense	probably benign	0.08
R6601:Polr1d	UTSW	5	147,015,359 (GRCm39)	nonsense	probably null
R9037:Polr1d	UTSW	5	147,015,490 (GRCm39)	missense	probably benign	0.00
R9205:Polr1d	UTSW	5	147,038,068 (GRCm39)	missense	probably damaging	1.00
R9401:Polr1d	UTSW	5	147,015,488 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

Posted On

2016-12-20