Mutagenetix > Incidental Mutation

Incidental Mutation 'R6241:Polr1d'

505233

Institutional Source

Beutler Lab

Gene Symbol

Polr1d

Ensembl Gene

ENSMUSG00000029642

Gene Name

polymerase (RNA) I polypeptide D

Synonyms

Rpo1-3, 16kDa, mRPA16, 1110003G10Rik

MMRRC Submission

044402-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R6241 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147013860-147048407 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 147015533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 72 (T72M)

Ref Sequence

ENSEMBL: ENSMUSP00000058355 (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
AA Change: T72M

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000058355
Gene: ENSMUSG00000029642
AA Change: T72M

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: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,623,788 (GRCm39)	I385V	probably benign	Het
Ablim2	A	G	5: 36,032,241 (GRCm39)	D622G	probably damaging	Het
Acsbg1	A	T	9: 54,549,946 (GRCm39)	S86T	probably damaging	Het
Adam34l	T	A	8: 44,079,133 (GRCm39)	I364L	probably benign	Het
Ank2	A	C	3: 126,846,397 (GRCm39)	D199E	probably damaging	Het
Art2a	T	A	7: 101,204,452 (GRCm39)	M29L	probably benign	Het
Bbs2	C	A	8: 94,824,863 (GRCm39)		probably null	Het
Brwd1	A	T	16: 95,815,074 (GRCm39)	I1402N	probably damaging	Het
C1qtnf9	C	A	14: 61,017,069 (GRCm39)	P200T	possibly damaging	Het
Ciita	T	C	16: 10,329,767 (GRCm39)	Y684H	probably damaging	Het
Dennd1c	T	C	17: 57,373,272 (GRCm39)	N734D	probably benign	Het
Depdc1b	A	T	13: 108,460,653 (GRCm39)	I88F	possibly damaging	Het
Dsg2	A	G	18: 20,723,274 (GRCm39)		probably null	Het
Foxp2	A	G	6: 15,394,761 (GRCm39)	T154A	probably damaging	Het
Gmeb1	A	T	4: 131,969,688 (GRCm39)	V95D	possibly damaging	Het
Gmeb1	A	G	4: 131,973,324 (GRCm39)	S62P	probably benign	Het
Golga5	T	A	12: 102,438,732 (GRCm39)	V149D	probably damaging	Het
H1f7	A	C	15: 98,154,652 (GRCm39)	S166A	unknown	Het
Hivep1	T	C	13: 42,311,846 (GRCm39)	L1362P	probably benign	Het
Ift81	T	C	5: 122,740,414 (GRCm39)	M205V	probably benign	Het
Iglv3	T	A	16: 19,059,968 (GRCm39)	Q120L	possibly damaging	Het
Ints9	C	T	14: 65,217,659 (GRCm39)	T62I	possibly damaging	Het
Itga1	G	T	13: 115,096,673 (GRCm39)		probably null	Het
Katnip	C	T	7: 125,472,006 (GRCm39)	H1532Y	probably benign	Het
Krt77	A	C	15: 101,773,988 (GRCm39)	I222S	probably damaging	Het
Mrps25	A	G	6: 92,160,819 (GRCm39)		probably null	Het
Mrps27	A	G	13: 99,548,754 (GRCm39)	T297A	probably benign	Het
Mup15	A	T	4: 61,357,850 (GRCm39)	L7Q	unknown	Het
Naip1	T	A	13: 100,562,169 (GRCm39)	I999F	probably damaging	Het
Ndst1	A	G	18: 60,836,901 (GRCm39)	F387L	probably damaging	Het
Nudt9	T	C	5: 104,202,151 (GRCm39)	S71P	probably damaging	Het
Or14c41	C	A	7: 86,235,245 (GRCm39)	A254D	probably benign	Het
Or2b4	A	G	17: 38,116,432 (GRCm39)	Y132C	probably damaging	Het
Or5al1	T	G	2: 85,990,380 (GRCm39)	E111D	probably damaging	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pcolce	A	C	5: 137,603,496 (GRCm39)	S446A	probably benign	Het
Per2	T	A	1: 91,349,251 (GRCm39)	N1040I	probably damaging	Het
Pla2g6	A	T	15: 79,188,592 (GRCm39)	S422T	probably benign	Het
Pla2r1	G	T	2: 60,332,543 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,752,094 (GRCm39)	V100A	possibly damaging	Het
Psd3	A	C	8: 68,270,791 (GRCm39)		probably benign	Het
Radil	T	C	5: 142,480,697 (GRCm39)	E586G	probably damaging	Het
Rnf150	A	G	8: 83,591,093 (GRCm39)	N152S	possibly damaging	Het
Serpina1b	T	A	12: 103,695,515 (GRCm39)		probably null	Het
Setd3	C	T	12: 108,124,114 (GRCm39)	E192K	probably benign	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Taok3	T	A	5: 117,410,262 (GRCm39)	M818K	probably benign	Het
Tmem131l	T	C	3: 83,829,471 (GRCm39)	N1062S	probably benign	Het
Tmx4	C	T	2: 134,481,425 (GRCm39)		probably benign	Het
Traip	G	A	9: 107,845,933 (GRCm39)	C342Y	probably benign	Het
Traj9	G	T	14: 54,446,890 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vegfc	T	C	8: 54,634,289 (GRCm39)	S323P	probably benign	Het
Vinac1	T	C	2: 128,879,301 (GRCm39)	D875G	possibly 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
R5828:Polr1d	UTSW	5	147,014,408 (GRCm39)	start gained	probably benign
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

PCR Primer
(F):5'- GAAGACCTCAATGGCTGAAGGC -3'
(R):5'- ACAATTCTGGGTTCTGCACC -3'

Sequencing Primer
(F):5'- CTCAATGGCTGAAGGCGAGAG -3'
(R):5'- TGCTTGTACCCTGCACGAG -3'

Posted On

2018-02-28