Mutagenetix > Incidental Mutation

Incidental Mutation 'RF050:Rtbdn'

605124

Institutional Source

Beutler Lab

Gene Symbol

Rtbdn

Ensembl Gene

ENSMUSG00000048617

Gene Name

retbindin

Synonyms

A330096I21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF050 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

85673620-85683232 bp(+) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

CGGCAG to CGGCAGAGGCAG at 85682799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065049] [ENSMUST00000067472] [ENSMUST00000109736] [ENSMUST00000109738] [ENSMUST00000109740] [ENSMUST00000121880] [ENSMUST00000128972] [ENSMUST00000147812] [ENSMUST00000152378]

AlphaFold

Q8QZY4

Predicted Effect

probably benign
Transcript: ENSMUST00000065049

SMART Domains

Protein: ENSMUSP00000066769
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	242	7.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000067472

SMART Domains

Protein: ENSMUSP00000070558
Gene: ENSMUSG00000048617

Domain	Start	End	E-Value	Type
Pfam:Folate_rec	27	203	2e-40	PFAM
low complexity region	224	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109736

SMART Domains

Protein: ENSMUSP00000105358
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	242	1.3e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109738

SMART Domains

Protein: ENSMUSP00000105360
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	242	5.5e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109740

SMART Domains

Protein: ENSMUSP00000105362
Gene: ENSMUSG00000048617

Domain	Start	End	E-Value	Type
Pfam:Folate_rec	27	203	3.5e-42	PFAM
low complexity region	224	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121880

SMART Domains

Protein: ENSMUSP00000113982
Gene: ENSMUSG00000048617

Domain	Start	End	E-Value	Type
Pfam:Folate_rec	27	203	3.5e-42	PFAM
low complexity region	224	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128972

SMART Domains

Protein: ENSMUSP00000121864
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:RNase_HII	57	268	1.4e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147812

SMART Domains

Protein: ENSMUSP00000120374
Gene: ENSMUSG00000052926

Domain	Start	End	E-Value	Type
Pfam:RNase_HII	31	242	1.3e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152378

SMART Domains

Protein: ENSMUSP00000132841
Gene: ENSMUSG00000048617

Domain	Start	End	E-Value	Type
Pfam:Folate_rec	2	172	2.8e-38	PFAM
low complexity region	193	203	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding proteins. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amot	GCAACAGCAAC	GC	X: 144,233,999 (GRCm39)		probably benign	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,980 (GRCm39)		probably benign	Het
Calhm1	GCTGTGGC	GCTGTGGCTGTGTCTGTGGC	19: 47,129,709 (GRCm39)		probably benign	Het
Ccdc170	ACCGCC	ACCGCCGCC	10: 4,511,008 (GRCm39)		probably benign	Het
Cntnap1	CAGCC	CAGCCCAAGCC	11: 101,080,418 (GRCm39)		probably benign	Het
Gabre	CAGGCT	CAGGCTAAGGCT	X: 71,314,347 (GRCm39)		probably null	Het
Garin5a	CTGGGTCTGAGGGAGGA	CTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACATGGGTCTGAGGGAGGA	7: 44,149,945 (GRCm39)		probably null	Het
Gm38119	C	T	3: 92,645,196 (GRCm39)	G133S	not run	Het
Gm6665	T	TC	18: 31,953,430 (GRCm39)		probably null	Het
Lca5l	TGGCCCTGGCCCCGGCCC	TGGCCC	16: 95,960,501 (GRCm39)		probably benign	Het
Med12l	AGC	AGCCGC	3: 59,183,394 (GRCm39)		probably benign	Het
Pou3f1	CGGCGG	CGGCGGAGGCGG	4: 124,551,597 (GRCm39)		probably benign	Het
Tcof1	CTTGGC	CTTGGCTGCTGAGATGGGCACTTTCCCAGAGATCCCGTTGGC	18: 60,966,651 (GRCm39)		probably benign	Het

Other mutations in Rtbdn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02892:Rtbdn	APN	8	85,681,718 (GRCm39)	missense	probably damaging	1.00
IGL03192:Rtbdn	APN	8	85,679,284 (GRCm39)	missense	probably benign	0.32
FR4342:Rtbdn	UTSW	8	85,682,807 (GRCm39)	small insertion	probably benign
FR4342:Rtbdn	UTSW	8	85,682,797 (GRCm39)	small insertion	probably benign
FR4589:Rtbdn	UTSW	8	85,682,800 (GRCm39)	small insertion	probably benign
FR4737:Rtbdn	UTSW	8	85,682,805 (GRCm39)	small insertion	probably benign
FR4737:Rtbdn	UTSW	8	85,682,797 (GRCm39)	small insertion	probably benign
FR4737:Rtbdn	UTSW	8	85,682,790 (GRCm39)	small insertion	probably benign
FR4737:Rtbdn	UTSW	8	85,682,806 (GRCm39)	small insertion	probably benign
R1581:Rtbdn	UTSW	8	85,681,695 (GRCm39)	missense	probably benign	0.01
R5057:Rtbdn	UTSW	8	85,681,638 (GRCm39)	missense	probably damaging	1.00
R6788:Rtbdn	UTSW	8	85,679,303 (GRCm39)	missense	probably null	1.00
R7570:Rtbdn	UTSW	8	85,679,556 (GRCm39)	missense	probably damaging	1.00
RF023:Rtbdn	UTSW	8	85,682,795 (GRCm39)	small insertion	probably benign
RF024:Rtbdn	UTSW	8	85,682,808 (GRCm39)	small insertion	probably benign
RF025:Rtbdn	UTSW	8	85,682,804 (GRCm39)	small insertion	probably benign
RF034:Rtbdn	UTSW	8	85,682,804 (GRCm39)	small insertion	probably benign
RF046:Rtbdn	UTSW	8	85,682,808 (GRCm39)	small insertion	probably benign
RF056:Rtbdn	UTSW	8	85,682,801 (GRCm39)	small insertion	probably benign
RF056:Rtbdn	UTSW	8	85,682,799 (GRCm39)	small insertion	probably benign
RF057:Rtbdn	UTSW	8	85,682,795 (GRCm39)	small insertion	probably benign
RF058:Rtbdn	UTSW	8	85,682,801 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCCATACCTAGTCCAGAAGAC -3'
(R):5'- TCGTATGGCATGGTCTAGGC -3'

Sequencing Primer
(F):5'- AGCCCAGAGACTCAGGTTC -3'
(R):5'- CATGGTCTAGGCTGGCAAC -3'

Posted On

2019-12-04