Mutagenetix > Incidental Mutation

Incidental Mutation 'R1924:Polr3e'

213279

Institutional Source

Beutler Lab

Gene Symbol

Polr3e

Ensembl Gene

ENSMUSG00000030880

Gene Name

polymerase (RNA) III (DNA directed) polypeptide E

Synonyms

RPC5, Sin

MMRRC Submission

039942-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R1924 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120516967-120546655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120539820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 522 (N522K)

Ref Sequence

ENSEMBL: ENSMUSP00000146970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033173] [ENSMUST00000106483] [ENSMUST00000207481]

AlphaFold

Q9CZT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000033173
AA Change: N548K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033173
Gene: ENSMUSG00000030880
AA Change: N548K

Domain	Start	End	E-Value	Type
Pfam:Sin_N	5	432	7.1e-161	PFAM
coiled coil region	458	491	N/A	INTRINSIC
low complexity region	504	518	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106483
AA Change: N548K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880
AA Change: N548K

Domain	Start	End	E-Value	Type
Pfam:Sin_N	4	29	2.8e-10	PFAM
Pfam:Sin_N	29	408	6.9e-141	PFAM
coiled coil region	432	465	N/A	INTRINSIC
low complexity region	478	492	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000207481
AA Change: N522K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209014

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

94% (63/67)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	A	5: 114,368,781 (GRCm39)	M1666I	possibly damaging	Het
Adamts13	A	T	2: 26,874,153 (GRCm39)	Q434L	probably damaging	Het
Adgrg3	G	A	8: 95,762,562 (GRCm39)	R204H	probably benign	Het
Arhgef28	A	C	13: 98,073,324 (GRCm39)		probably benign	Het
AU041133	T	A	10: 81,987,101 (GRCm39)	C251*	probably null	Het
Axin2	T	A	11: 108,833,794 (GRCm39)	N580K	probably benign	Het
C4b	A	G	17: 34,948,631 (GRCm39)	C1560R	probably damaging	Het
Cacna1g	A	G	11: 94,334,880 (GRCm39)	I809T	possibly damaging	Het
Cacna1s	C	A	1: 136,016,755 (GRCm39)		probably null	Het
Cadps2	T	C	6: 23,688,857 (GRCm39)	S151G	probably damaging	Het
Capn1	T	C	19: 6,040,086 (GRCm39)		probably null	Het
Capn9	A	G	8: 125,302,965 (GRCm39)	S28G	probably benign	Het
Ccdc73	A	G	2: 104,822,637 (GRCm39)	D862G	probably damaging	Het
Cdk17	T	C	10: 93,061,979 (GRCm39)	L237P	probably damaging	Het
Cfap251	A	G	5: 123,440,802 (GRCm39)	I1120V	possibly damaging	Het
Chad	A	C	11: 94,456,384 (GRCm39)	N154T	possibly damaging	Het
Cog1	C	T	11: 113,547,038 (GRCm39)	T544I	probably benign	Het
Cracd	A	T	5: 77,006,470 (GRCm39)	T944S	unknown	Het
Ctnna2	T	C	6: 76,931,830 (GRCm39)	E590G	possibly damaging	Het
Dapk2	T	A	9: 66,072,642 (GRCm39)	M6K	probably benign	Het
Dchs1	T	C	7: 105,421,487 (GRCm39)	E311G	possibly damaging	Het
Ddr2	T	A	1: 169,809,641 (GRCm39)	T779S	probably benign	Het
Dhtkd1	A	G	2: 5,916,744 (GRCm39)	V644A	probably damaging	Het
Dock2	A	G	11: 34,414,934 (GRCm39)	V147A	possibly damaging	Het
Ear10	A	T	14: 44,160,357 (GRCm39)	*157K	probably null	Het
Gm10801	T	C	2: 98,494,197 (GRCm39)	I113T	probably damaging	Het
Gmps	T	G	3: 63,906,049 (GRCm39)	C449G	probably damaging	Het
Grin3a	A	G	4: 49,844,988 (GRCm39)	S32P	possibly damaging	Het
Igkv1-115	A	T	6: 68,138,592 (GRCm39)	D65V	probably damaging	Het
Klk1b4	A	G	7: 43,859,105 (GRCm39)	N41S	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrrc8a	T	A	2: 30,145,262 (GRCm39)	D25E	probably damaging	Het
Muc5b	A	G	7: 141,421,960 (GRCm39)	R4426G	possibly damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myo5a	G	T	9: 75,023,489 (GRCm39)	D17Y	probably damaging	Het
Nat1	C	G	8: 67,944,076 (GRCm39)	L154V	probably benign	Het
Nek3	T	A	8: 22,647,047 (GRCm39)	T163S	probably damaging	Het
Or2w25	G	T	11: 59,503,949 (GRCm39)	R53L	possibly damaging	Het
Or5p80	A	G	7: 108,229,562 (GRCm39)	D121G	probably damaging	Het
Or6c204	A	G	10: 129,023,044 (GRCm39)	I82T	possibly damaging	Het
Or8d2b	T	A	9: 38,789,147 (GRCm39)	I225N	probably damaging	Het
Or8g32	A	T	9: 39,305,163 (GRCm39)	E22D	possibly damaging	Het
Or9s13	T	C	1: 92,548,525 (GRCm39)	L299P	probably damaging	Het
Osr1	T	G	12: 9,629,268 (GRCm39)	L47R	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pik3ap1	T	A	19: 41,291,053 (GRCm39)	N493I	possibly damaging	Het
Rabgap1	T	A	2: 37,385,771 (GRCm39)		probably null	Het
Rp1l1	C	A	14: 64,268,992 (GRCm39)	A1526E	probably benign	Het
Scn3a	T	A	2: 65,291,878 (GRCm39)	I1623F	probably damaging	Het
Serpinb9e	A	G	13: 33,437,428 (GRCm39)	T104A	probably benign	Het
Sh3rf3	T	C	10: 58,939,989 (GRCm39)		probably benign	Het
Slc30a3	A	G	5: 31,245,748 (GRCm39)	Y213H	probably damaging	Het
Sptbn4	C	T	7: 27,106,563 (GRCm39)	R955H	probably damaging	Het
Tfb1m	A	T	17: 3,569,946 (GRCm39)	Y307N	probably damaging	Het
Tnrc6b	G	T	15: 80,768,407 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ulk1	A	G	5: 110,938,936 (GRCm39)	Y501H	probably damaging	Het
Zbtb17	A	G	4: 141,191,914 (GRCm39)	H315R	probably damaging	Het
Zeb2	A	G	2: 44,892,624 (GRCm39)	Y142H	probably damaging	Het
Zfr	T	C	15: 12,160,715 (GRCm39)	S763P	possibly damaging	Het

Other mutations in Polr3e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Polr3e	APN	7	120,540,034 (GRCm39)	nonsense	probably null
IGL01664:Polr3e	APN	7	120,530,540 (GRCm39)	splice site	probably benign
IGL01980:Polr3e	APN	7	120,539,519 (GRCm39)	splice site	probably benign
IGL02027:Polr3e	APN	7	120,530,186 (GRCm39)	missense	probably damaging	1.00
IGL02208:Polr3e	APN	7	120,531,363 (GRCm39)	missense	probably damaging	0.99
IGL02549:Polr3e	APN	7	120,538,982 (GRCm39)	missense	probably damaging	1.00
IGL03338:Polr3e	APN	7	120,536,843 (GRCm39)	missense	probably benign	0.06
R1192:Polr3e	UTSW	7	120,532,531 (GRCm39)	missense	probably benign	0.03
R1328:Polr3e	UTSW	7	120,533,046 (GRCm39)	splice site	probably benign
R1435:Polr3e	UTSW	7	120,540,011 (GRCm39)	missense	probably benign	0.16
R1528:Polr3e	UTSW	7	120,539,820 (GRCm39)	missense	probably damaging	1.00
R1754:Polr3e	UTSW	7	120,538,521 (GRCm39)	critical splice donor site	probably null
R2169:Polr3e	UTSW	7	120,531,360 (GRCm39)	missense	probably damaging	1.00
R2201:Polr3e	UTSW	7	120,531,465 (GRCm39)	missense	probably benign
R2362:Polr3e	UTSW	7	120,541,787 (GRCm39)	missense	probably damaging	1.00
R2696:Polr3e	UTSW	7	120,532,600 (GRCm39)	missense	probably damaging	1.00
R4416:Polr3e	UTSW	7	120,538,280 (GRCm39)	critical splice donor site	probably null
R5278:Polr3e	UTSW	7	120,522,184 (GRCm39)	missense	possibly damaging	0.67
R5560:Polr3e	UTSW	7	120,522,172 (GRCm39)	missense	possibly damaging	0.83
R5689:Polr3e	UTSW	7	120,539,912 (GRCm39)	missense	possibly damaging	0.82
R5790:Polr3e	UTSW	7	120,527,190 (GRCm39)	missense	probably damaging	1.00
R6242:Polr3e	UTSW	7	120,539,690 (GRCm39)	missense	possibly damaging	0.62
R6317:Polr3e	UTSW	7	120,527,205 (GRCm39)	missense	possibly damaging	0.49
R6334:Polr3e	UTSW	7	120,527,222 (GRCm39)	missense	possibly damaging	0.87
R6891:Polr3e	UTSW	7	120,543,873 (GRCm39)	missense	probably damaging	0.98
R7110:Polr3e	UTSW	7	120,539,510 (GRCm39)	splice site	probably null
R7771:Polr3e	UTSW	7	120,539,801 (GRCm39)	missense	probably benign
R7809:Polr3e	UTSW	7	120,523,449 (GRCm39)	missense	probably damaging	1.00
R8431:Polr3e	UTSW	7	120,530,528 (GRCm39)	missense	probably damaging	0.99
R8753:Polr3e	UTSW	7	120,539,540 (GRCm39)	missense	possibly damaging	0.55
R9038:Polr3e	UTSW	7	120,536,906 (GRCm39)	missense	possibly damaging	0.91
R9049:Polr3e	UTSW	7	120,538,462 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCAGAACCATGCCTTCTTG -3'
(R):5'- GACGCCACTGAAGAGTATATGG -3'

Sequencing Primer
(F):5'- CATGCCTTCTTGGAGCGTGAAC -3'
(R):5'- CCACTGAAGAGTATATGGCCCGG -3'

Posted On

2014-07-14