Mutagenetix > Incidental Mutation

Incidental Mutation 'R5293:Rbfa'

405270

Institutional Source

Beutler Lab

Gene Symbol

Rbfa

Ensembl Gene

ENSMUSG00000024570

Gene Name

ribosome binding factor A

Synonyms

1110032A13Rik

MMRRC Submission

042876-MU

Accession Numbers

Essential gene?

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

Stock #

R5293 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80235480-80243873 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80235981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 256 (E256G)

Ref Sequence

ENSEMBL: ENSMUSP00000025462 (fasta)

Gene Model

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

AlphaFold

Q6P3B9

Predicted Effect

probably benign
Transcript: ENSMUST00000025462
AA Change: E256G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025462
Gene: ENSMUSG00000024570
AA Change: E256G

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	G	8: 25,300,722 (GRCm39)	V269A	possibly damaging	Het
Akap9	C	T	5: 3,998,687 (GRCm39)	R19W	probably damaging	Het
Akr7a5	G	T	4: 139,041,517 (GRCm39)	R142L	probably benign	Het
Atp6v0a2	A	T	5: 124,784,649 (GRCm39)	M311L	probably benign	Het
Atxn1	C	T	13: 45,721,844 (GRCm39)	R17H	probably damaging	Het
Ccdc116	A	T	16: 16,959,651 (GRCm39)	L346Q	possibly damaging	Het
Copg2	T	A	6: 30,803,162 (GRCm39)	N261I	probably damaging	Het
Crtc2	A	G	3: 90,170,871 (GRCm39)	E648G	probably benign	Het
Dnah10	A	C	5: 124,868,851 (GRCm39)	K2334Q	probably benign	Het
Foxa2	T	C	2: 147,885,922 (GRCm39)	T123A	probably benign	Het
Galnt6	A	G	15: 100,601,382 (GRCm39)	V299A	probably benign	Het
Grip1	T	C	10: 119,733,640 (GRCm39)	S26P	probably damaging	Het
Jkamp	A	G	12: 72,136,883 (GRCm39)	S84G	probably benign	Het
Kcnc1	A	G	7: 46,047,235 (GRCm39)	H45R	probably benign	Het
Knl1	T	C	2: 118,900,176 (GRCm39)	Y626H	probably damaging	Het
Mmp19	T	A	10: 128,626,970 (GRCm39)	V16D	probably damaging	Het
Mrpl38	T	C	11: 116,023,599 (GRCm39)	N280S	probably benign	Het
Myl7	T	A	11: 5,848,521 (GRCm39)		probably benign	Het
Ngef	CCCTCCTCCTCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTCCTCCTCCTC	1: 87,431,151 (GRCm39)		probably benign	Het
Nlrp2	A	C	7: 5,330,614 (GRCm39)	L594R	probably damaging	Het
Or2y3	T	A	17: 38,393,131 (GRCm39)	H246L	probably damaging	Het
Or4f15	T	G	2: 111,813,611 (GRCm39)	K269N	probably damaging	Het
Or52n2c	T	C	7: 104,574,486 (GRCm39)	T162A	probably benign	Het
Pkhd1	T	C	1: 20,579,300 (GRCm39)	E1802G	possibly damaging	Het
Pkhd1l1	T	C	15: 44,399,146 (GRCm39)	V2070A	probably benign	Het
Plcxd2	G	T	16: 45,800,706 (GRCm39)	H173N	probably damaging	Het
Plec	C	G	15: 76,083,783 (GRCm39)	W26C	probably benign	Het
Psmc1	C	T	12: 100,081,731 (GRCm39)	T111I	probably benign	Het
Sh3d21	T	A	4: 126,046,050 (GRCm39)	T173S	probably benign	Het
Slc41a3	T	A	6: 90,603,426 (GRCm39)	V149E	probably damaging	Het
Sntg1	A	G	1: 8,665,757 (GRCm39)	S186P	probably damaging	Het
Spag4	A	G	2: 155,908,111 (GRCm39)	D29G	probably benign	Het
Spc25	A	G	2: 69,032,996 (GRCm39)	V43A	possibly damaging	Het
Spen	G	A	4: 141,199,717 (GRCm39)	A2947V	possibly damaging	Het
Spta1	T	C	1: 174,023,551 (GRCm39)	S653P	probably damaging	Het
Ssrp1	T	A	2: 84,872,596 (GRCm39)	Y411*	probably null	Het
Synrg	C	T	11: 83,872,325 (GRCm39)	L149F	probably damaging	Het
Trappc11	G	A	8: 47,946,377 (GRCm39)	A1085V	possibly damaging	Het
Ttn	T	C	2: 76,571,276 (GRCm39)	E18212G	probably damaging	Het
Wnk4	T	G	11: 101,166,023 (GRCm39)		probably benign	Het

Other mutations in Rbfa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01405:Rbfa	APN	18	80,236,080 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGAAGGTACACCAGAGGCTC -3'
(R):5'- ACACAGTGCTTTGGAGTGTG -3'

Sequencing Primer
(F):5'- TACACCAGAGGCTCTGTCCTG -3'
(R):5'- CACAGTGCTTTGGAGTGTGGTTTG -3'

Posted On

2016-07-22