Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03403:Rrn3'

421493

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rrn3

Ensembl Gene

ENSMUSG00000022682

Gene Name

RRN3 RNA polymerase I transcription factor homolog (yeast)

Synonyms

TIF-1A, E130302O19Rik

Accession Numbers

Genbank: NM_001039521; MGI: 1925255

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03403

Quality Score

Status

Chromosome

Chromosomal Location

13780708-13814839 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 13799945 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 351 (K351*)

Ref Sequence

ENSEMBL: ENSMUSP00000023363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023363]

Predicted Effect

probably null
Transcript: ENSMUST00000023363
AA Change: K351*

SMART Domains

Protein: ENSMUSP00000023363
Gene: ENSMUSG00000022682
AA Change: K351*

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:RRN3	46	584	7.5e-138	PFAM
low complexity region	597	605	N/A	INTRINSIC
low complexity region	631	641	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, failure to undergo embryonic turning, delayed embryonic development, markedly reduced embryo size, and increased apoptosis. [provided by MGI curators]

Allele List at MGI

All alleles(38) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(36)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	C	15: 8,201,342	K1034N	probably damaging	Het
Adamts12	T	A	15: 11,241,488	I382N	probably damaging	Het
Adamts5	T	C	16: 85,863,014	T797A	probably damaging	Het
Ahr	A	T	12: 35,504,326	V598E	possibly damaging	Het
Akap10	A	G	11: 61,915,273	S210P	probably benign	Het
Asb5	G	T	8: 54,583,547		probably benign	Het
AU041133	T	C	10: 82,138,344	V31A	probably damaging	Het
Bcar3	T	C	3: 122,512,969	V197A	probably benign	Het
Bptf	A	G	11: 107,099,733	V510A	possibly damaging	Het
Ccar2	A	T	14: 70,140,068	D712E	probably damaging	Het
Cenpt	G	A	8: 105,849,665	Q85*	probably null	Het
Ciita	C	A	16: 10,503,872	H98N	probably damaging	Het
Csn1s1	T	A	5: 87,667,293	M16K	probably benign	Het
Fah	A	G	7: 84,593,209	I297T	probably damaging	Het
Fbxo25	A	G	8: 13,929,423	N214D	probably benign	Het
Frem3	A	C	8: 80,611,090	D4A	probably benign	Het
Gm12800	T	C	4: 101,909,928	S125P	probably benign	Het
Gm3409	A	G	5: 146,539,524	K162E	probably benign	Het
Gxylt1	T	C	15: 93,261,775	D148G	possibly damaging	Het
Hoxd4	A	T	2: 74,728,337	E168V	possibly damaging	Het
Ifna6	A	G	4: 88,827,458	S15G	possibly damaging	Het
Iqck	T	A	7: 118,876,271	H97Q	probably benign	Het
Kif16b	T	A	2: 142,711,869	E1003V	probably damaging	Het
Lrp1b	G	A	2: 40,702,824	P3761L	probably benign	Het
Mc4r	C	T	18: 66,859,526	C172Y	possibly damaging	Het
Olfr373	A	G	8: 72,100,497	T246A	probably benign	Het
Oosp1	T	A	19: 11,687,380	N104I	probably damaging	Het
Pram1	A	T	17: 33,642,143	I513F	probably damaging	Het
Rasef	A	G	4: 73,734,534	S577P	probably damaging	Het
Rfx8	T	C	1: 39,690,173	D144G	possibly damaging	Het
Rreb1	A	C	13: 37,929,574	N303T	possibly damaging	Het
Sox30	A	T	11: 46,017,208	E734V	probably damaging	Het
Spns1	C	T	7: 126,371,536		probably null	Het
Tgfbr2	T	A	9: 116,110,302	E177D	probably benign	Het
Tnfaip8l3	A	G	9: 54,027,457	M78T	possibly damaging	Het
Vmn2r92	C	T	17: 18,166,852	T151I	probably damaging	Het
Wwc1	A	G	11: 35,915,284	Y41H	possibly damaging	Het
Zfp407	A	T	18: 84,560,797	N730K	probably damaging	Het

Other mutations in Rrn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Rrn3	APN	16	13809062	missense	probably damaging	1.00
IGL02507:Rrn3	APN	16	13788857	missense	probably benign
IGL02607:Rrn3	APN	16	13806563	missense	possibly damaging	0.65
IGL02648:Rrn3	APN	16	13811589	missense	probably benign
IGL03217:Rrn3	APN	16	13809011	missense	possibly damaging	0.83
11287:Rrn3	UTSW	16	13800019	splice site	probably null
ANU74:Rrn3	UTSW	16	13811533	missense	possibly damaging	0.65
R0013:Rrn3	UTSW	16	13813113	missense	possibly damaging	0.92
R0013:Rrn3	UTSW	16	13813113	missense	possibly damaging	0.92
R0308:Rrn3	UTSW	16	13799882	splice site	probably benign
R1970:Rrn3	UTSW	16	13789074	missense	probably damaging	1.00
R3712:Rrn3	UTSW	16	13784095	nonsense	probably null
R3959:Rrn3	UTSW	16	13782100	critical splice donor site	probably null
R4343:Rrn3	UTSW	16	13784122	missense	probably benign	0.01
R4678:Rrn3	UTSW	16	13796076	missense	probably damaging	1.00
R4920:Rrn3	UTSW	16	13790639	missense	probably benign	0.01
R4925:Rrn3	UTSW	16	13799972	missense	probably damaging	1.00
R5225:Rrn3	UTSW	16	13792934	splice site	probably null
R5469:Rrn3	UTSW	16	13813100	missense	probably benign	0.01
R5702:Rrn3	UTSW	16	13813266	nonsense	probably null
R6059:Rrn3	UTSW	16	13806604	missense	probably benign
R6425:Rrn3	UTSW	16	13811601	missense	probably benign	0.00
R7582:Rrn3	UTSW	16	13810511	nonsense	probably null
R7814:Rrn3	UTSW	16	13811589	missense	probably benign
Z1176:Rrn3	UTSW	16	13813156	missense	probably damaging	1.00
Z1177:Rrn3	UTSW	16	13788846	missense	possibly damaging	0.93

Posted On

2016-08-02