Mutagenetix > Incidental Mutation

Incidental Mutation 'R7003:Polr3c'

544649

Institutional Source

Beutler Lab

Gene Symbol

Polr3c

Ensembl Gene

ENSMUSG00000028099

Gene Name

polymerase (RNA) III (DNA directed) polypeptide C

Synonyms

4933407E01Rik, RPC62, RPC3

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R7003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96711490-96727628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96723638 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 155 (H155Q)

Ref Sequence

ENSEMBL: ENSMUSP00000115300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029740] [ENSMUST00000029741] [ENSMUST00000125183] [ENSMUST00000141377] [ENSMUST00000154679] [ENSMUST00000199051]

AlphaFold

Q9D483

Predicted Effect

probably benign
Transcript: ENSMUST00000029740

SMART Domains

Protein: ENSMUSP00000029740
Gene: ENSMUSG00000028098

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
RING	229	269	1.14e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029741
AA Change: H155Q

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029741
Gene: ENSMUSG00000028099
AA Change: H155Q

Domain	Start	End	E-Value	Type
Pfam:HTH_9	7	68	9.4e-26	PFAM
Pfam:RNA_pol_Rpc82	146	344	7.6e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125183

SMART Domains

Protein: ENSMUSP00000123513
Gene: ENSMUSG00000028099

Domain	Start	End	E-Value	Type
Pfam:HTH_9	7	68	4.6e-29	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119236
Gene: ENSMUSG00000028099
AA Change: H28Q

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_Rpc82	20	180	5.9e-32	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141377
AA Change: H155Q

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115300
Gene: ENSMUSG00000028099
AA Change: H155Q

Domain	Start	End	E-Value	Type
Pfam:HTH_9	7	68	3.3e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154679
AA Change: H155Q

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122435
Gene: ENSMUSG00000028099
AA Change: H155Q

Domain	Start	End	E-Value	Type
Pfam:HTH_9	7	68	1.6e-26	PFAM
Pfam:RNA_pol_Rpc82	146	344	7.6e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199051

SMART Domains

Protein: ENSMUSP00000143321
Gene: ENSMUSG00000028098

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:zf-RING_3	18	49	4.5e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	G	15: 8,228,762	L2164R	probably damaging	Het
Actbl2	T	A	13: 111,255,956	I275N	probably damaging	Het
Actr3b	A	C	5: 25,798,463	Y21S	probably damaging	Het
Adam6b	C	T	12: 113,490,042	Q160*	probably null	Het
Adgrv1	C	T	13: 81,522,104		probably null	Het
Akr1c6	A	G	13: 4,454,515	N300D	probably benign	Het
Alox8	T	C	11: 69,191,590	D170G	possibly damaging	Het
Amhr2	A	G	15: 102,446,333	N40S	probably benign	Het
Ap2a2	A	G	7: 141,629,196	N767S	probably benign	Het
Armc3	T	C	2: 19,270,028	I358T	probably damaging	Het
Atg2b	A	G	12: 105,654,249	S732P	probably benign	Het
Atp12a	A	G	14: 56,373,380	Y327C	possibly damaging	Het
Bcr	T	C	10: 75,061,561	V179A	probably benign	Het
Cep104	T	C	4: 153,993,561	L642P	probably benign	Het
Clspn	T	A	4: 126,592,720	S1302R	possibly damaging	Het
Cmip	T	C	8: 117,384,988	F153L	probably benign	Het
D630039A03Rik	T	C	4: 57,910,521	D97G	probably damaging	Het
Dok7	A	T	5: 35,079,555	T396S	probably benign	Het
Dsel	C	T	1: 111,860,295	V837I	probably benign	Het
Etl4	C	T	2: 20,805,884	T926I	probably benign	Het
Gm7102	A	G	19: 61,175,881	S39P	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Gpr155	A	G	2: 73,343,617	I816T	probably damaging	Het
Hpn	C	T	7: 31,110,942		probably benign	Het
Inpp5e	A	G	2: 26,397,865	S640P	probably benign	Het
Irs3	C	T	5: 137,645,277	V82I	probably benign	Het
Kif16b	A	C	2: 142,758,829	D461E	possibly damaging	Het
Krba1	A	G	6: 48,413,080	T592A	possibly damaging	Het
Lgsn	T	A	1: 31,203,943	S369T	possibly damaging	Het
Lrrc4b	C	T	7: 44,445,156	P83S	probably damaging	Het
Neil3	T	C	8: 53,600,966	T343A	possibly damaging	Het
Nt5e	A	G	9: 88,364,752	Y347C	probably damaging	Het
Olfr1532-ps1	A	T	7: 106,915,112	T305S	probably benign	Het
Olfr3	A	G	2: 36,813,035	I19T	possibly damaging	Het
Olfr452	C	T	6: 42,790,465	T142I	probably benign	Het
Olfr943	A	T	9: 39,184,943	Y255F	probably benign	Het
P2rx5	T	C	11: 73,167,974		probably null	Het
Phtf2	A	G	5: 20,794,401	V248A	probably benign	Het
Plekhd1	T	C	12: 80,721,960	C406R	possibly damaging	Het
Plod3	T	A	5: 136,989,644	N245K	probably damaging	Het
Psap	T	A	10: 60,299,497	C317S	probably damaging	Het
Rif1	A	G	2: 52,076,989	I97V	probably benign	Het
Rnf123	T	A	9: 108,063,683		probably null	Het
Rnf19a	G	A	15: 36,254,504	R303*	probably null	Het
Sdk1	G	A	5: 142,096,734	V1036I	probably benign	Het
Shc3	T	A	13: 51,466,552	Y146F	probably benign	Het
Skint6	A	G	4: 113,105,912	Y441H	probably benign	Het
Slc7a12	T	C	3: 14,505,520	I173T	probably damaging	Het
Spesp1	A	T	9: 62,282,020	S15T	possibly damaging	Het
Tarm1	A	T	7: 3,497,423		probably null	Het
Tenm3	T	C	8: 48,240,444	Y1817C	probably damaging	Het
Ttc9c	A	T	19: 8,818,540	L45Q	probably damaging	Het
Ube3a	C	T	7: 59,276,440	T322I	probably damaging	Het
Vac14	T	A	8: 110,712,798	V669E	probably damaging	Het
Vmn1r225	A	G	17: 20,503,154	M286V	probably null	Het
Zfp658	A	G	7: 43,574,748	K816E	possibly damaging	Het
Zfp846	T	C	9: 20,587,892	M1T	probably null	Het

Other mutations in Polr3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Polr3c	APN	3	96713520	missense	probably damaging	1.00
IGL01904:Polr3c	APN	3	96716665	critical splice donor site	probably null
IGL01964:Polr3c	APN	3	96711975	unclassified	probably benign
IGL02640:Polr3c	APN	3	96716686	missense	probably damaging	0.98
IGL02955:Polr3c	APN	3	96714312	missense	probably damaging	1.00
IGL03129:Polr3c	APN	3	96719454	splice site	probably benign
IGL03263:Polr3c	APN	3	96714251	splice site	probably benign
R0503:Polr3c	UTSW	3	96713636	splice site	probably null
R0800:Polr3c	UTSW	3	96719311	missense	probably damaging	0.99
R0881:Polr3c	UTSW	3	96723847	missense	probably damaging	0.99
R1763:Polr3c	UTSW	3	96713595	missense	probably damaging	1.00
R1931:Polr3c	UTSW	3	96719298	missense	probably damaging	1.00
R1932:Polr3c	UTSW	3	96719298	missense	probably damaging	1.00
R1994:Polr3c	UTSW	3	96714373	splice site	probably null
R3771:Polr3c	UTSW	3	96725854	missense	probably damaging	1.00
R4116:Polr3c	UTSW	3	96715244	missense	probably damaging	1.00
R4614:Polr3c	UTSW	3	96716471	missense	probably benign	0.00
R4732:Polr3c	UTSW	3	96723661	missense	probably damaging	1.00
R4733:Polr3c	UTSW	3	96723661	missense	probably damaging	1.00
R5057:Polr3c	UTSW	3	96712057	missense	probably damaging	0.98
R5058:Polr3c	UTSW	3	96723517	missense	probably benign	0.01
R5756:Polr3c	UTSW	3	96714134	missense	probably damaging	1.00
R6005:Polr3c	UTSW	3	96719468	missense	possibly damaging	0.96
R6009:Polr3c	UTSW	3	96713614	missense	probably damaging	1.00
R6580:Polr3c	UTSW	3	96727343	splice site	probably null
R7475:Polr3c	UTSW	3	96715185	missense	probably benign	0.11
R8065:Polr3c	UTSW	3	96715652	missense	probably null	0.80
R8067:Polr3c	UTSW	3	96715652	missense	probably null	0.80
R8478:Polr3c	UTSW	3	96716750	splice site	probably benign
R8729:Polr3c	UTSW	3	96727480	unclassified	probably benign
R8865:Polr3c	UTSW	3	96715201	unclassified	probably benign
R9532:Polr3c	UTSW	3	96722550	missense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGAAGAGTCCCCAATTAAGGC -3'
(R):5'- TCCTGCTGAATGGCAAAATGAC -3'

Sequencing Primer
(F):5'- CCCAATTAAGGCAAATCAGCTTTAGG -3'
(R):5'- ACAATGTCAGCTGTTGTGAAG -3'

Posted On

2019-05-13