Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01886:Polr3h'

179128

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr3h

Ensembl Gene

ENSMUSG00000022476

Gene Name

polymerase (RNA) III (DNA directed) polypeptide H

Synonyms

5031409G22Rik, RPC8

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

81799231-81813824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81801591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 95 (E95G)

Ref Sequence

ENSEMBL: ENSMUSP00000155181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023113] [ENSMUST00000023116] [ENSMUST00000230050]

AlphaFold

Q9D2C6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023113
AA Change: E124G

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023113
Gene: ENSMUSG00000022476
AA Change: E124G

Domain	Start	End	E-Value	Type
Pfam:SHS2_Rpb7-N	8	77	7.1e-23	PFAM
Pfam:RNA_pol_Rbc25	79	201	2.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023116

SMART Domains

Protein: ENSMUSP00000023116
Gene: ENSMUSG00000022477

Domain	Start	End	E-Value	Type
Pfam:Aconitase	65	503	2.2e-160	PFAM
Pfam:Aconitase_C	582	712	5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229402

Predicted Effect

probably damaging
Transcript: ENSMUST00000230050
AA Change: E95G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230842

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,625,592 (GRCm39)	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,612,318 (GRCm39)	L8M	possibly damaging	Het
Anks6	C	A	4: 47,044,850 (GRCm39)	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613 (GRCm39)	N768K	probably damaging	Het
Clec7a	A	T	6: 129,440,140 (GRCm39)		probably benign	Het
Cyp3a13	G	A	5: 137,897,082 (GRCm39)	P411S	probably damaging	Het
Elavl2	A	G	4: 91,152,330 (GRCm39)	V129A	probably damaging	Het
Ercc6	T	A	14: 32,291,537 (GRCm39)	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262 (GRCm39)	K8I	probably damaging	Het
Esr1	T	A	10: 4,806,861 (GRCm39)	I259K	probably damaging	Het
Filip1l	A	G	16: 57,391,613 (GRCm39)	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814 (GRCm39)	I891F	probably damaging	Het
Kat7	T	C	11: 95,196,959 (GRCm39)	T27A	probably benign	Het
Kdm1a	A	G	4: 136,288,327 (GRCm39)		probably null	Het
Kifc5b	T	C	17: 27,151,091 (GRCm39)	V663A	probably damaging	Het
Lama1	T	G	17: 68,114,792 (GRCm39)	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984 (GRCm39)	V279I	probably benign	Het
Mast3	A	T	8: 71,234,783 (GRCm39)	L774Q	possibly damaging	Het
Med27	C	A	2: 29,303,494 (GRCm39)	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,076,372 (GRCm39)		probably benign	Het
Myoz1	T	C	14: 20,705,377 (GRCm39)	K14E	probably damaging	Het
Neb	T	C	2: 52,073,857 (GRCm39)		probably benign	Het
Nlrp1a	T	C	11: 71,014,327 (GRCm39)	T308A	probably benign	Het
Or1l4b	A	G	2: 37,036,521 (GRCm39)	Y99C	probably damaging	Het
Or8d2b	G	T	9: 38,788,844 (GRCm39)	C124F	probably damaging	Het
Orc1	T	A	4: 108,461,154 (GRCm39)		probably null	Het
Pnkp	G	A	7: 44,511,631 (GRCm39)	A76T	probably damaging	Het
Prpf40b	T	A	15: 99,202,328 (GRCm39)	M62K	unknown	Het
Prpf8	C	A	11: 75,386,570 (GRCm39)	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280 (GRCm38)	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,169,612 (GRCm39)	N778K	probably damaging	Het
Riok3	T	A	18: 12,272,442 (GRCm39)	N204K	probably damaging	Het
Shank3	A	G	15: 89,415,866 (GRCm39)	K650E	probably damaging	Het
Sim1	T	A	10: 50,860,411 (GRCm39)	S758T	probably damaging	Het
Slu7	T	G	11: 43,330,087 (GRCm39)	N171K	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Sult6b2	A	G	6: 142,735,852 (GRCm39)		probably null	Het
Taf6l	C	T	19: 8,755,450 (GRCm39)		probably null	Het
Ubtfl1	G	A	9: 18,321,017 (GRCm39)	V182M	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Polr3h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Polr3h	APN	15	81,806,697 (GRCm39)	missense	probably damaging	0.99
IGL03409:Polr3h	APN	15	81,801,595 (GRCm39)	missense	probably benign	0.01
R2436:Polr3h	UTSW	15	81,801,406 (GRCm39)	missense	probably benign	0.18
R4642:Polr3h	UTSW	15	81,806,667 (GRCm39)	missense	probably benign	0.16
R5631:Polr3h	UTSW	15	81,810,113 (GRCm39)	start gained	probably benign
R5927:Polr3h	UTSW	15	81,801,480 (GRCm39)	splice site	probably null
R5933:Polr3h	UTSW	15	81,800,835 (GRCm39)	missense	probably damaging	1.00
R6638:Polr3h	UTSW	15	81,802,505 (GRCm39)	missense	possibly damaging	0.96
R7412:Polr3h	UTSW	15	81,800,602 (GRCm39)	splice site	probably null
R7646:Polr3h	UTSW	15	81,801,571 (GRCm39)	missense	probably damaging	1.00
R7916:Polr3h	UTSW	15	81,806,613 (GRCm39)	missense	probably benign	0.10
R8487:Polr3h	UTSW	15	81,800,824 (GRCm39)	missense	probably benign	0.02
R9100:Polr3h	UTSW	15	81,806,717 (GRCm39)	splice site	probably benign
Y4339:Polr3h	UTSW	15	81,806,609 (GRCm39)	critical splice donor site	probably null

Posted On

2014-05-07