Mutagenetix > Incidental Mutation

Incidental Mutation 'R4925:Rrn3'

378993

Institutional Source

Beutler Lab

Gene Symbol

Rrn3

Ensembl Gene

ENSMUSG00000022682

Gene Name

RRN3 RNA polymerase I transcription factor homolog (yeast)

Synonyms

TIF-1A, E130302O19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13598572-13632703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13617836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 360 (C360R)

Ref Sequence

ENSEMBL: ENSMUSP00000023363 (fasta)

Gene Model

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

AlphaFold

B2RS91

Predicted Effect

probably damaging
Transcript: ENSMUST00000023363
AA Change: C360R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023363
Gene: ENSMUSG00000022682
AA Change: C360R

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

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,316,540 (GRCm39)	C173*	probably null	Het
3425401B19Rik	T	A	14: 32,385,137 (GRCm39)	H276L	possibly damaging	Het
Adam21	T	G	12: 81,607,163 (GRCm39)	M200L	probably benign	Het
Adamts3	A	T	5: 89,832,182 (GRCm39)	S974T	probably benign	Het
Adamtsl3	T	A	7: 82,251,507 (GRCm39)		probably null	Het
Atp8b2	A	G	3: 89,853,930 (GRCm39)		probably null	Het
Brd8	T	C	18: 34,740,388 (GRCm39)	T552A	probably benign	Het
Btaf1	A	G	19: 36,988,733 (GRCm39)	S1826G	probably benign	Het
Ccdc163	A	G	4: 116,568,528 (GRCm39)	E77G	possibly damaging	Het
Ces2g	A	G	8: 105,691,526 (GRCm39)	R194G	probably benign	Het
Cip2a	T	C	16: 48,836,726 (GRCm39)		probably null	Het
Cln8	A	G	8: 14,945,004 (GRCm39)	H106R	possibly damaging	Het
Col12a1	T	G	9: 79,582,077 (GRCm39)	L1391F	probably damaging	Het
Col16a1	G	A	4: 129,947,969 (GRCm39)	D230N	probably damaging	Het
Crhbp	C	A	13: 95,580,318 (GRCm39)	G87V	possibly damaging	Het
Cyp3a16	C	T	5: 145,389,644 (GRCm39)	M240I	probably benign	Het
Cyp4a14	A	T	4: 115,353,133 (GRCm39)	W60R	possibly damaging	Het
Fam47e	A	G	5: 92,733,149 (GRCm39)	Y304C	probably damaging	Het
Fgfbp1	A	T	5: 44,136,634 (GRCm39)	D219E	probably damaging	Het
Fgfr2	A	T	7: 129,787,002 (GRCm39)	Y485N	probably damaging	Het
Fhdc1	C	T	3: 84,360,840 (GRCm39)	V363M	probably damaging	Het
Foxb1	T	A	9: 69,667,437 (GRCm39)	E31V	probably damaging	Het
Galnt9	T	C	5: 110,692,605 (GRCm39)	V13A	possibly damaging	Het
Ghrl	T	C	6: 113,693,218 (GRCm39)	D77G	probably damaging	Het
Gpr85	A	G	6: 13,835,977 (GRCm39)	V309A	probably benign	Het
Greb1	T	C	12: 16,731,472 (GRCm39)	Y1622C	probably damaging	Het
Greb1l	T	A	18: 10,547,447 (GRCm39)	M1555K	possibly damaging	Het
Grin2a	T	A	16: 9,487,687 (GRCm39)	N404Y	probably damaging	Het
Gtpbp1	A	C	15: 79,600,169 (GRCm39)	I399L	probably benign	Het
Hectd4	T	C	5: 121,460,753 (GRCm39)	S911P	possibly damaging	Het
Igkc	A	T	6: 70,703,520 (GRCm39)	K34*	probably null	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Iqgap1	T	A	7: 80,415,065 (GRCm39)	I149F	probably damaging	Het
Lama1	C	T	17: 68,101,309 (GRCm39)	A1934V	probably benign	Het
Lrp1	C	A	10: 127,410,944 (GRCm39)	E1415*	probably null	Het
Lypd8l	T	A	11: 58,501,513 (GRCm39)	T157S	probably damaging	Het
Macf1	A	C	4: 123,420,445 (GRCm39)	C270G	probably benign	Het
Marveld3	A	G	8: 110,674,943 (GRCm39)	V291A	probably benign	Het
Med23	T	C	10: 24,786,645 (GRCm39)	F917S	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Ncan	A	T	8: 70,562,604 (GRCm39)	D551E	probably benign	Het
Or1e23	A	T	11: 73,407,998 (GRCm39)	I9N	possibly damaging	Het
Or4x6	T	A	2: 89,949,121 (GRCm39)	T274S	probably damaging	Het
Or52h2	T	C	7: 103,839,387 (GRCm39)	Y9C	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pla2g12a	T	C	3: 129,672,467 (GRCm39)	W34R	probably damaging	Het
Plekha7	A	G	7: 115,757,363 (GRCm39)	F529S	probably damaging	Het
Potefam1	T	C	2: 111,048,961 (GRCm39)	K273E	probably benign	Het
Ppl	T	A	16: 4,922,846 (GRCm39)	D215V	probably damaging	Het
Pramel15	A	T	4: 144,104,502 (GRCm39)	M1K	probably null	Het
Prdm1	T	A	10: 44,316,165 (GRCm39)	Y690F	probably damaging	Het
Prkcd	T	A	14: 30,329,570 (GRCm39)	D124V	probably damaging	Het
Ptprc	C	A	1: 138,027,235 (GRCm39)	D538Y	probably benign	Het
Rasl10b	G	A	11: 83,303,505 (GRCm39)	V21M	probably damaging	Het
Rgsl1	T	A	1: 153,688,023 (GRCm39)	Y657F	probably benign	Het
Scarb1	T	C	5: 125,374,363 (GRCm39)	T257A	probably damaging	Het
Serpinb2	T	A	1: 107,443,219 (GRCm39)	M6K	probably benign	Het
Slco4a1	T	C	2: 180,113,849 (GRCm39)	Y429H	probably benign	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Taar3	T	A	10: 23,826,441 (GRCm39)	F329Y	probably damaging	Het
Tardbp	A	T	4: 148,703,108 (GRCm39)	N285K	probably benign	Het
Tcstv7b	A	G	13: 120,702,384 (GRCm39)	Y60C	probably damaging	Het
Tnni2	A	T	7: 141,996,430 (GRCm39)	E4V	probably benign	Het
Tnpo2	A	T	8: 85,776,654 (GRCm39)	I454F	probably damaging	Het
Tpr	T	G	1: 150,308,316 (GRCm39)	H1690Q	probably benign	Het
Trav18	T	C	14: 54,068,577 (GRCm39)	S6P	probably benign	Het
Trf	T	C	9: 103,096,445 (GRCm39)	N25S	probably benign	Het
Vmn1r59	T	C	7: 5,457,115 (GRCm39)	N215S	probably benign	Het
Vmn2r2	T	C	3: 64,044,892 (GRCm39)	M1V	probably null	Het
Wdr64	T	C	1: 175,552,268 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,542,943 (GRCm39)	S222G	probably benign	Het

Other mutations in Rrn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Rrn3	APN	16	13,626,926 (GRCm39)	missense	probably damaging	1.00
IGL02507:Rrn3	APN	16	13,606,721 (GRCm39)	missense	probably benign
IGL02607:Rrn3	APN	16	13,624,427 (GRCm39)	missense	possibly damaging	0.65
IGL02648:Rrn3	APN	16	13,629,453 (GRCm39)	missense	probably benign
IGL03217:Rrn3	APN	16	13,626,875 (GRCm39)	missense	possibly damaging	0.83
IGL03403:Rrn3	APN	16	13,617,809 (GRCm39)	nonsense	probably null
11287:Rrn3	UTSW	16	13,617,883 (GRCm39)	splice site	probably null
ANU74:Rrn3	UTSW	16	13,629,397 (GRCm39)	missense	possibly damaging	0.65
R0013:Rrn3	UTSW	16	13,630,977 (GRCm39)	missense	possibly damaging	0.92
R0013:Rrn3	UTSW	16	13,630,977 (GRCm39)	missense	possibly damaging	0.92
R0308:Rrn3	UTSW	16	13,617,746 (GRCm39)	splice site	probably benign
R1970:Rrn3	UTSW	16	13,606,938 (GRCm39)	missense	probably damaging	1.00
R3712:Rrn3	UTSW	16	13,601,959 (GRCm39)	nonsense	probably null
R3959:Rrn3	UTSW	16	13,599,964 (GRCm39)	critical splice donor site	probably null
R4343:Rrn3	UTSW	16	13,601,986 (GRCm39)	missense	probably benign	0.01
R4678:Rrn3	UTSW	16	13,613,940 (GRCm39)	missense	probably damaging	1.00
R4920:Rrn3	UTSW	16	13,608,503 (GRCm39)	missense	probably benign	0.01
R5225:Rrn3	UTSW	16	13,610,798 (GRCm39)	splice site	probably null
R5469:Rrn3	UTSW	16	13,630,964 (GRCm39)	missense	probably benign	0.01
R5702:Rrn3	UTSW	16	13,631,130 (GRCm39)	nonsense	probably null
R6059:Rrn3	UTSW	16	13,624,468 (GRCm39)	missense	probably benign
R6425:Rrn3	UTSW	16	13,629,465 (GRCm39)	missense	probably benign	0.00
R7582:Rrn3	UTSW	16	13,628,375 (GRCm39)	nonsense	probably null
R7814:Rrn3	UTSW	16	13,629,453 (GRCm39)	missense	probably benign
R8332:Rrn3	UTSW	16	13,616,484 (GRCm39)	missense	possibly damaging	0.61
R9315:Rrn3	UTSW	16	13,606,690 (GRCm39)	missense	probably benign	0.00
R9752:Rrn3	UTSW	16	13,631,095 (GRCm39)	missense	probably benign
R9757:Rrn3	UTSW	16	13,628,433 (GRCm39)	missense	probably damaging	0.96
Z1176:Rrn3	UTSW	16	13,631,020 (GRCm39)	missense	probably damaging	1.00
Z1177:Rrn3	UTSW	16	13,606,710 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CATTGCTTGCAAATGCTGGTTC -3'
(R):5'- GAGTTCATATTGCTCCAGGAAATC -3'

Sequencing Primer
(F):5'- GCTTGCAAATGCTGGTTCTTAATAC -3'
(R):5'- TCAAAGTTCAGCTCCAGGGGATC -3'

Posted On

2016-04-15