Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03409:Polr3h'

421725

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: 0.951) question?

Stock #

IGL03409

Quality Score

Status

Chromosome

Chromosomal Location

81799231-81813824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 81801595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 94 (A94S)

Ref Sequence

ENSEMBL: ENSMUSP00000155181 (fasta)

Gene Model

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

AlphaFold

Q9D2C6

Predicted Effect

probably benign
Transcript: ENSMUST00000023113
AA Change: A123S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000023113
Gene: ENSMUSG00000022476
AA Change: A123S

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 benign
Transcript: ENSMUST00000230050
AA Change: A94S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	T	8: 124,691,762 (GRCm39)	M401K	possibly damaging	Het
Ablim3	T	A	18: 61,978,922 (GRCm39)	H203L	probably damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aox1	T	G	1: 58,393,588 (GRCm39)	D1249E	possibly damaging	Het
Astn2	T	C	4: 65,353,423 (GRCm39)	I1116V	possibly damaging	Het
Atad3a	T	C	4: 155,831,807 (GRCm39)	D489G	probably damaging	Het
Caln1	G	T	5: 130,646,719 (GRCm39)	G52C	probably damaging	Het
Clcn7	A	G	17: 25,374,359 (GRCm39)	T467A	probably damaging	Het
Col17a1	A	T	19: 47,654,979 (GRCm39)	I599N	possibly damaging	Het
Cul2	T	A	18: 3,429,593 (GRCm39)	H547Q	probably damaging	Het
Cxcl14	T	C	13: 56,440,320 (GRCm39)	T80A	probably damaging	Het
Dscaml1	T	A	9: 45,581,401 (GRCm39)	Y407N	probably damaging	Het
Edc4	T	A	8: 106,611,748 (GRCm39)	I108N	probably damaging	Het
Exoc2	T	C	13: 31,124,720 (GRCm39)		probably benign	Het
Gm1110	T	G	9: 26,807,916 (GRCm39)	H290P	probably benign	Het
Gm16223	T	A	5: 42,225,336 (GRCm39)	W12R	unknown	Het
Herc2	C	A	7: 55,878,317 (GRCm39)	H4623Q	probably damaging	Het
Igkv18-36	A	T	6: 69,969,589 (GRCm39)	H68Q	possibly damaging	Het
Kif7	T	C	7: 79,357,301 (GRCm39)	E635G	probably benign	Het
Or2t47	T	C	11: 58,442,388 (GRCm39)	K226E	probably benign	Het
Or4c109	A	T	2: 88,817,931 (GRCm39)	I205N	possibly damaging	Het
Or52z13	T	A	7: 103,246,574 (GRCm39)	M17K	possibly damaging	Het
Or9m1b	A	T	2: 87,836,239 (GRCm39)	N285K	probably damaging	Het
Pam	C	A	1: 97,792,054 (GRCm39)	A456S	probably benign	Het
Pgap3	T	C	11: 98,289,764 (GRCm39)	T76A	possibly damaging	Het
Pkd2	C	A	5: 104,637,215 (GRCm39)	Y609*	probably null	Het
Plcg2	A	G	8: 118,310,234 (GRCm39)	D362G	probably damaging	Het
Rhod	T	C	19: 4,482,186 (GRCm39)	D76G	probably damaging	Het
Rims2	T	C	15: 39,320,129 (GRCm39)	V670A	probably damaging	Het
Rpap3	G	A	15: 97,579,620 (GRCm39)	T464M	possibly damaging	Het
Rufy1	T	A	11: 50,297,310 (GRCm39)	I381L	probably benign	Het
Slc1a4	T	C	11: 20,256,506 (GRCm39)	T442A	probably damaging	Het
Slc9b1	T	C	3: 135,100,670 (GRCm39)	S472P	probably damaging	Het
Tmtc3	T	C	10: 100,287,294 (GRCm39)	T501A	possibly damaging	Het
Tnpo3	C	A	6: 29,555,181 (GRCm39)	D801Y	probably damaging	Het
Ttc39b	T	C	4: 83,179,193 (GRCm39)	Y111C	probably damaging	Het
Ubr4	A	T	4: 139,127,240 (GRCm39)	R543*	probably null	Het
Vmn1r74	T	G	7: 11,581,240 (GRCm39)	L180R	probably damaging	Het
Vps45	T	G	3: 95,960,401 (GRCm39)	E80A	probably benign	Het
Zfp677	T	C	17: 21,617,107 (GRCm39)	Y55H	probably damaging	Het
Zng1	A	G	19: 24,900,130 (GRCm39)	V289A	probably benign	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
IGL01886:Polr3h	APN	15	81,801,591 (GRCm39)	missense	probably damaging	1.00
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

2016-08-02