Mutagenetix > Incidental Mutation

Incidental Mutation 'RF058:Rtbdn'

605330

Institutional Source

Beutler Lab

Gene Symbol

Rtbdn

Ensembl Gene

ENSMUSG00000048617

Gene Name

retbindin

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF058 (G1)

Quality Score

217.47

Status

Not validated

Chromosome

Chromosomal Location

84946991-84956603 bp(+) (GRCm38)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

GCAGCG to GCAGCGACAGCG at 84956172 bp (GRCm38)

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: 98.7%

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: 22 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
3110021N24Rik	GAGCGCGGCC	G	4: 108,780,629	probably benign	Het
5430401F13Rik	AAGGAAAAGGTGGCCAG	AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG	6: 131,552,887	probably benign	Het
5430401F13Rik	CAG	CAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,901	probably benign	Het
Alg9	GGC	GGCTGC	9: 50,775,427	probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 4,995,583	probably benign	Het
Chd4	GC	GCTCCCTC	6: 125,122,131	probably benign	Het
Chga	CAG	CAGAAG	12: 102,561,416	probably benign	Het
Cort	GCCCACTCGT	G	4: 149,125,412	probably benign	Het
Flywch1	GT	GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT	17: 23,762,177	probably null	Het
Gab3	TCT	TCTACT	X: 75,000,002	probably benign	Het
Gabre	C	CCGGCTG	X: 72,270,063	probably benign	Het
Haus4	CACTTAAAAAAAAAA	CA	14: 54,550,035	probably benign	Het
Il2	AG	AGGGCTTGAAGTGG	3: 37,125,817	probably benign	Het
Il2	CTTGAAGTGG	CTTGAAGTGGGGATTGAAGTGG	3: 37,125,821	probably benign	Het
Kri1	TCCTCCTCC	TC	9: 21,281,066	probably null	Het
Krtap28-10	ACAGCCACCACAGCCACAGCCACCACAGC	ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC	1: 83,042,262	probably benign	Het
Mbd1	CGTCTTCGTCTGCATCTGCATCTGCA	C	18: 74,273,609	probably null	Het
Nefh	CCTC	CCTCGCCTGGGGACTTGGACTC	11: 4,941,021	probably benign	Het
Setd1a	GTGGTGGT	GTGGTGGTATTGGTGGT	7: 127,785,318	probably benign	Het
Treml1	ACCT	A	17: 48,359,947	probably null	Het
Triobp	CTCCCTGTGCCCAAC	CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC	15: 78,967,044	probably benign	Het
Zfp598	CCCACCACCACAACCACCACCACCACCACCAC	CCCACCACCACCACCACAACCACCACCACCACCACCAC	17: 24,680,761	probably benign	Het

Other mutations in Rtbdn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02892:Rtbdn	APN	8	84955089	missense	probably damaging	1.00
IGL03192:Rtbdn	APN	8	84952655	missense	probably benign	0.32
FR4342:Rtbdn	UTSW	8	84956168	small insertion	probably benign
FR4342:Rtbdn	UTSW	8	84956178	small insertion	probably benign
FR4589:Rtbdn	UTSW	8	84956171	small insertion	probably benign
FR4737:Rtbdn	UTSW	8	84956161	small insertion	probably benign
FR4737:Rtbdn	UTSW	8	84956168	small insertion	probably benign
FR4737:Rtbdn	UTSW	8	84956176	small insertion	probably benign
FR4737:Rtbdn	UTSW	8	84956177	small insertion	probably benign
R1581:Rtbdn	UTSW	8	84955066	missense	probably benign	0.01
R5057:Rtbdn	UTSW	8	84955009	missense	probably damaging	1.00
R6788:Rtbdn	UTSW	8	84952674	missense	probably null	1.00
R7570:Rtbdn	UTSW	8	84952927	missense	probably damaging	1.00
RF023:Rtbdn	UTSW	8	84956166	small insertion	probably benign
RF024:Rtbdn	UTSW	8	84956179	small insertion	probably benign
RF025:Rtbdn	UTSW	8	84956175	small insertion	probably benign
RF034:Rtbdn	UTSW	8	84956175	small insertion	probably benign
RF046:Rtbdn	UTSW	8	84956179	small insertion	probably benign
RF050:Rtbdn	UTSW	8	84956170	small insertion	probably benign
RF056:Rtbdn	UTSW	8	84956170	small insertion	probably benign
RF056:Rtbdn	UTSW	8	84956172	small insertion	probably benign
RF057:Rtbdn	UTSW	8	84956166	small insertion	probably benign

Predicted Primers

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

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

Posted On

2019-12-04