Mutagenetix > Incidental Mutation

Incidental Mutation 'R0761:Polr1e'

70080

Institutional Source

Beutler Lab

Gene Symbol

Polr1e

Ensembl Gene

ENSMUSG00000028318

Gene Name

polymerase (RNA) I polypeptide E

Synonyms

53kDa, Praf1, Paf53, D030019D19Rik

MMRRC Submission

038941-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45018609-45034279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45027392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 207 (D207E)

Ref Sequence

ENSEMBL: ENSMUSP00000103444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029999] [ENSMUST00000107814] [ENSMUST00000133157]

AlphaFold

Q8K202

Predicted Effect

probably benign
Transcript: ENSMUST00000029999
AA Change: D255E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029999
Gene: ENSMUSG00000028318
AA Change: D255E

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_I_A49	51	476	2.1e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054723
AA Change: D179E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000059941
Gene: ENSMUSG00000028318
AA Change: D179E

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_I_A49	24	401	7.9e-104	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107814
AA Change: D207E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103444
Gene: ENSMUSG00000028318
AA Change: D207E

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_I_A49	49	385	4.1e-105	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133157
AA Change: D207E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000121007
Gene: ENSMUSG00000028318
AA Change: D207E

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_I_A49	49	431	1.4e-117	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153252

Meta Mutation Damage Score

0.2878

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,833 (GRCm39)	Y133C	probably benign	Het
Adcy5	G	A	16: 35,091,195 (GRCm39)		probably benign	Het
Asb17	A	G	3: 153,550,052 (GRCm39)	K28R	probably damaging	Het
Bbs10	G	T	10: 111,135,244 (GRCm39)	C119F	probably damaging	Het
Camk2g	G	A	14: 20,816,280 (GRCm39)	Q119*	probably null	Het
Cdh18	A	T	15: 23,226,838 (GRCm39)	I46L	possibly damaging	Het
Cimip2a	T	C	2: 25,110,135 (GRCm39)		probably benign	Het
Clmn	T	A	12: 104,747,817 (GRCm39)	N577Y	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crocc	T	C	4: 140,774,387 (GRCm39)	E63G	probably benign	Het
Crocc	T	C	4: 140,757,087 (GRCm39)	T965A	probably benign	Het
Cryzl2	A	G	1: 157,293,294 (GRCm39)	I132V	probably benign	Het
Csgalnact2	T	C	6: 118,103,073 (GRCm39)		probably benign	Het
Ctr9	T	C	7: 110,645,479 (GRCm39)	S569P	probably damaging	Het
Cul3	A	G	1: 80,255,203 (GRCm39)		probably benign	Het
Dcp2	G	A	18: 44,543,300 (GRCm39)	S286N	probably benign	Het
Dgkz	C	T	2: 91,775,696 (GRCm39)	R189H	probably benign	Het
Dst	A	G	1: 34,221,848 (GRCm39)	T2551A	probably benign	Het
Kcna4	T	A	2: 107,126,417 (GRCm39)	S384T	probably benign	Het
Klhl17	T	C	4: 156,317,204 (GRCm39)		probably null	Het
Kmt2e	C	A	5: 23,708,032 (GRCm39)	S1865*	probably null	Het
L3mbtl1	G	A	2: 162,807,967 (GRCm39)	R534H	probably damaging	Het
Lmnb2	A	T	10: 80,742,088 (GRCm39)	M1K	probably null	Het
Lrp1b	T	C	2: 41,075,947 (GRCm39)	D1784G	probably damaging	Het
Lrrc34	A	G	3: 30,685,425 (GRCm39)		probably null	Het
Megf10	C	A	18: 57,421,048 (GRCm39)	Y895*	probably null	Het
Mesd	G	T	7: 83,544,951 (GRCm39)	A143S	probably damaging	Het
Mfap3l	G	T	8: 61,124,615 (GRCm39)	V286L	possibly damaging	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Nek1	T	A	8: 61,542,489 (GRCm39)	D717E	probably benign	Het
Nudt12	A	T	17: 59,318,064 (GRCm39)	D60E	probably benign	Het
Nup205	C	T	6: 35,173,363 (GRCm39)		probably benign	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2j3	A	T	17: 38,616,282 (GRCm39)	H23Q	probably benign	Het
Or4a75	T	C	2: 89,448,179 (GRCm39)	D119G	probably damaging	Het
Or5w19	C	T	2: 87,698,880 (GRCm39)	P182S	possibly damaging	Het
Pacs2	T	A	12: 113,023,688 (GRCm39)		probably benign	Het
Pcdha9	T	A	18: 37,133,016 (GRCm39)	L695*	probably null	Het
Pira12	A	T	7: 3,896,978 (GRCm39)		probably null	Het
Pkd1l1	A	G	11: 8,804,375 (GRCm39)	S1739P	probably damaging	Het
Polr3f	T	A	2: 144,376,327 (GRCm39)	V142E	probably damaging	Het
Psma6	T	A	12: 55,459,127 (GRCm39)	W170R	possibly damaging	Het
Rev3l	T	C	10: 39,750,191 (GRCm39)	Y3114H	probably benign	Het
Rps6ka5	C	T	12: 100,537,141 (GRCm39)	A530T	probably damaging	Het
Simc1	T	C	13: 54,674,387 (GRCm39)	Y912H	probably damaging	Het
Tnfrsf1b	T	C	4: 144,942,670 (GRCm39)	D371G	possibly damaging	Het
Trank1	T	C	9: 111,195,681 (GRCm39)	V1235A	probably damaging	Het
Ttn	T	C	2: 76,577,102 (GRCm39)	E24597G	probably damaging	Het
Ubr2	G	A	17: 47,294,242 (GRCm39)	P297L	probably damaging	Het
Unc5d	A	T	8: 29,186,560 (GRCm39)		probably null	Het
Xpo4	A	G	14: 57,850,840 (GRCm39)	F355L	probably damaging	Het

Other mutations in Polr1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Polr1e	APN	4	45,031,364 (GRCm39)	unclassified	probably benign
IGL01146:Polr1e	APN	4	45,031,369 (GRCm39)	missense	probably damaging	1.00
IGL01514:Polr1e	APN	4	45,018,723 (GRCm39)	missense	probably benign	0.00
IGL01533:Polr1e	APN	4	45,019,328 (GRCm39)	missense	probably damaging	1.00
R0207:Polr1e	UTSW	4	45,025,143 (GRCm39)	splice site	probably null
R0562:Polr1e	UTSW	4	45,029,421 (GRCm39)	missense	probably damaging	0.99
R1472:Polr1e	UTSW	4	45,028,026 (GRCm39)	missense	probably damaging	1.00
R1707:Polr1e	UTSW	4	45,027,469 (GRCm39)	missense	probably damaging	0.99
R2994:Polr1e	UTSW	4	45,027,473 (GRCm39)	critical splice donor site	probably null
R3054:Polr1e	UTSW	4	45,018,724 (GRCm39)	missense	possibly damaging	0.77
R4031:Polr1e	UTSW	4	45,018,685 (GRCm39)	missense	probably benign	0.02
R4195:Polr1e	UTSW	4	45,019,327 (GRCm39)	missense	probably damaging	1.00
R4771:Polr1e	UTSW	4	45,019,282 (GRCm39)	missense	probably damaging	1.00
R4806:Polr1e	UTSW	4	45,024,482 (GRCm39)	missense	probably benign
R4880:Polr1e	UTSW	4	45,022,280 (GRCm39)	missense	probably damaging	1.00
R4964:Polr1e	UTSW	4	45,029,429 (GRCm39)	missense	probably damaging	1.00
R4966:Polr1e	UTSW	4	45,029,429 (GRCm39)	missense	probably damaging	1.00
R5605:Polr1e	UTSW	4	45,018,723 (GRCm39)	missense	probably benign	0.00
R5934:Polr1e	UTSW	4	45,029,369 (GRCm39)	missense	probably damaging	0.99
R6358:Polr1e	UTSW	4	45,026,813 (GRCm39)	missense	probably damaging	1.00
R7241:Polr1e	UTSW	4	45,029,340 (GRCm39)	missense	probably damaging	1.00
R7436:Polr1e	UTSW	4	45,024,553 (GRCm39)	splice site	probably null
R8952:Polr1e	UTSW	4	45,018,727 (GRCm39)	missense	probably damaging	0.98
R9460:Polr1e	UTSW	4	45,018,691 (GRCm39)	missense	probably benign	0.25
R9709:Polr1e	UTSW	4	45,018,678 (GRCm39)	missense	probably benign
X0061:Polr1e	UTSW	4	45,029,436 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGATCTCAGCAGGTGTTCACATTCG -3'
(R):5'- GTGACGTTCTAGGTTCCAACCCTTC -3'

Sequencing Primer
(F):5'- GAGTTTCAGAACGTGTGGTCC -3'
(R):5'- TTGCTAACAGCTCTAGGACATGG -3'

Posted On

2013-09-30