Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01405:Rbfa'

79781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbfa

Ensembl Gene

ENSMUSG00000024570

Gene Name

ribosome binding factor A

Synonyms

1110032A13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL01405

Quality Score

Status

Chromosome

Chromosomal Location

80235480-80243873 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80236080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 223 (V223A)

Ref Sequence

ENSEMBL: ENSMUSP00000025462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025462]

AlphaFold

Q6P3B9

Predicted Effect

probably benign
Transcript: ENSMUST00000025462
AA Change: V223A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000025462
Gene: ENSMUSG00000024570
AA Change: V223A

Domain	Start	End	E-Value	Type
Pfam:RBFA	94	199	3.6e-15	PFAM
low complexity region	304	332	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	A	17: 36,274,902 (GRCm39)	R82W	probably damaging	Het
Atxn7	T	C	14: 14,100,105 (GRCm38)	V597A	probably benign	Het
Bsg	T	A	10: 79,547,348 (GRCm39)	M205K	probably benign	Het
Ccdc18	T	C	5: 108,350,052 (GRCm39)		probably benign	Het
Cdh1	T	C	8: 107,375,633 (GRCm39)	V57A	probably damaging	Het
Ddost	A	G	4: 138,039,014 (GRCm39)	D378G	probably damaging	Het
Depdc5	A	G	5: 33,095,033 (GRCm39)	E779G	possibly damaging	Het
Elp5	T	C	11: 69,859,962 (GRCm39)	R250G	probably damaging	Het
Gnb1	A	G	4: 155,627,645 (GRCm39)	H142R	probably damaging	Het
Ift172	G	T	5: 31,419,196 (GRCm39)	Y1148*	probably null	Het
Kif5a	T	C	10: 127,081,859 (GRCm39)	N153S	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Man2a2	T	A	7: 80,010,682 (GRCm39)	M770L	probably benign	Het
Msh2	T	C	17: 87,985,663 (GRCm39)	L80P	probably damaging	Het
Naip5	A	T	13: 100,358,453 (GRCm39)	S928T	probably benign	Het
Or7g35	T	A	9: 19,496,501 (GRCm39)	S223T	probably benign	Het
Pla2g4d	T	C	2: 120,097,304 (GRCm39)	N765S	probably benign	Het
Plcb4	C	T	2: 135,792,267 (GRCm39)	T330I	probably damaging	Het
Ppp3ca	A	G	3: 136,574,482 (GRCm39)	I127V	probably benign	Het
Rapgef5	C	A	12: 117,685,115 (GRCm39)	T320K	probably benign	Het
Rfx7	A	G	9: 72,517,626 (GRCm39)	M187V	probably benign	Het
Ric1	T	C	19: 29,544,770 (GRCm39)		probably benign	Het
Slc22a16	C	T	10: 40,461,191 (GRCm39)	T331M	probably benign	Het
Slc34a1	T	C	13: 55,559,941 (GRCm39)	S303P	probably damaging	Het
Slfn3	T	C	11: 83,105,542 (GRCm39)	V513A	possibly damaging	Het
Tbce	A	T	13: 14,178,280 (GRCm39)	I370N	probably damaging	Het
Zfp358	G	A	8: 3,545,663 (GRCm39)	D109N	probably benign	Het
Zfp523	T	C	17: 28,423,480 (GRCm39)	S152P	probably damaging	Het
Zfp961	A	G	8: 72,721,778 (GRCm39)	N78S	possibly damaging	Het

Other mutations in Rbfa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:Rbfa	APN	18	80,241,015 (GRCm39)	missense	possibly damaging	0.47
IGL02838:Rbfa	APN	18	80,236,050 (GRCm39)	missense	probably benign	0.00
IGL03214:Rbfa	APN	18	80,240,506 (GRCm39)	missense	probably benign	0.02
R4584:Rbfa	UTSW	18	80,243,721 (GRCm39)	missense	probably benign	0.05
R5293:Rbfa	UTSW	18	80,235,981 (GRCm39)	missense	probably benign	0.01
R6384:Rbfa	UTSW	18	80,235,996 (GRCm39)	missense	probably damaging	1.00
R6471:Rbfa	UTSW	18	80,243,673 (GRCm39)	nonsense	probably null
R7328:Rbfa	UTSW	18	80,236,454 (GRCm39)	missense	probably benign	0.00
R9045:Rbfa	UTSW	18	80,236,026 (GRCm39)	missense	probably damaging	0.99
Z1177:Rbfa	UTSW	18	80,235,738 (GRCm39)	missense	probably benign	0.00

Posted On

2013-11-05