Mutagenetix > Incidental Mutation

Incidental Mutation 'R0764:Ranbp1'

72574

Institutional Source

Beutler Lab

Gene Symbol

Ranbp1

Ensembl Gene

ENSMUSG00000005732

Gene Name

RAN binding protein 1

Synonyms

Htf9a

MMRRC Submission

038944-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18057843-18066558 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 18058022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 181 (E181*)

Ref Sequence

ENSEMBL: ENSMUSP00000111309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052325] [ENSMUST00000115645]

AlphaFold

P34022

Predicted Effect

probably null
Transcript: ENSMUST00000052325
AA Change: E131*

SMART Domains

Protein: ENSMUSP00000055288
Gene: ENSMUSG00000005732
AA Change: E131*

Domain	Start	End	E-Value	Type
RanBD	1	108	4.92e-46	SMART
coiled coil region	123	153	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115645
AA Change: E181*

SMART Domains

Protein: ENSMUSP00000111309
Gene: ENSMUSG00000005732
AA Change: E181*

Domain	Start	End	E-Value	Type
RanBD	27	158	3.33e-75	SMART
low complexity region	183	202	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123073

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.1%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal growth retardation, decreased body weight, impaired spermatogenesis, and male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,950,772 (GRCm39)	Y898N	probably damaging	Het
Acp4	T	C	7: 43,901,738 (GRCm39)		probably benign	Het
Adipor2	T	C	6: 119,334,215 (GRCm39)	I332V	probably benign	Het
Ago3	T	A	4: 126,248,885 (GRCm39)	K555N	possibly damaging	Het
Angpt4	A	G	2: 151,753,204 (GRCm39)		probably benign	Het
Ano5	G	T	7: 51,187,590 (GRCm39)		probably benign	Het
Ap3b1	C	T	13: 94,616,387 (GRCm39)		probably benign	Het
Cbl	A	T	9: 44,075,449 (GRCm39)	C399S	probably damaging	Het
Cdkl2	C	A	5: 92,168,136 (GRCm39)	V353L	probably benign	Het
Celsr3	A	G	9: 108,705,017 (GRCm39)	Y500C	probably damaging	Het
Cep162	A	G	9: 87,083,798 (GRCm39)	S1242P	probably damaging	Het
Crhr1	C	T	11: 104,050,152 (GRCm39)	R66W	probably damaging	Het
Ddx49	T	C	8: 70,749,907 (GRCm39)	E170G	probably benign	Het
Fam193a	T	C	5: 34,600,685 (GRCm39)	F305L	probably damaging	Het
Fam76a	C	T	4: 132,638,010 (GRCm39)	G198R	probably damaging	Het
Gm43302	T	A	5: 105,428,355 (GRCm39)	I130F	probably benign	Het
Hectd4	T	A	5: 121,424,832 (GRCm39)	I745N	possibly damaging	Het
Ina	T	A	19: 47,012,087 (GRCm39)	*502K	probably null	Het
Kdm1b	A	T	13: 47,222,079 (GRCm39)	D506V	possibly damaging	Het
Lrrk2	A	G	15: 91,659,249 (GRCm39)		probably null	Het
Ly6g2	T	A	15: 75,092,572 (GRCm39)	F97Y	probably benign	Het
Naip5	A	T	13: 100,353,613 (GRCm39)	D1215E	probably benign	Het
Neb	A	G	2: 52,106,879 (GRCm39)		probably benign	Het
Nectin2	T	A	7: 19,483,096 (GRCm39)		probably null	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2aj5	G	T	16: 19,425,182 (GRCm39)	P79T	probably damaging	Het
Or4a71	A	G	2: 89,358,340 (GRCm39)	V138A	probably benign	Het
Osbp	A	G	19: 11,961,520 (GRCm39)		probably benign	Het
Otog	A	G	7: 45,949,918 (GRCm39)	D2460G	probably benign	Het
Pcgf1	T	C	6: 83,056,150 (GRCm39)	C2R	probably damaging	Het
Per2	C	T	1: 91,357,142 (GRCm39)	V674M	probably damaging	Het
Pias3	C	T	3: 96,608,611 (GRCm39)	P218S	probably damaging	Het
Plod3	C	T	5: 137,018,437 (GRCm39)		probably benign	Het
Purb	C	T	11: 6,425,661 (GRCm39)	V76M	probably damaging	Het
Rit2	T	C	18: 31,286,754 (GRCm39)		probably benign	Het
Rnf103	C	A	6: 71,486,566 (GRCm39)	T399K	probably damaging	Het
Slc22a13	T	C	9: 119,037,746 (GRCm39)		probably null	Het
Slc35f4	T	A	14: 49,543,796 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tnfrsf17	C	T	16: 11,133,063 (GRCm39)	T47M	possibly damaging	Het
Tram1	A	G	1: 13,649,933 (GRCm39)	I97T	probably damaging	Het
Ttc38	T	C	15: 85,730,604 (GRCm39)		probably benign	Het
Zfp113	T	A	5: 138,143,506 (GRCm39)	Q248L	probably damaging	Het

Other mutations in Ranbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03165:Ranbp1	APN	16	18,065,145 (GRCm39)	unclassified	probably benign
R0189:Ranbp1	UTSW	16	18,059,607 (GRCm39)	critical splice donor site	probably null
R3276:Ranbp1	UTSW	16	18,065,293 (GRCm39)	unclassified	probably benign
R4381:Ranbp1	UTSW	16	18,065,208 (GRCm39)	missense	probably damaging	1.00
R4620:Ranbp1	UTSW	16	18,057,968 (GRCm39)	unclassified	probably benign
R5127:Ranbp1	UTSW	16	18,065,151 (GRCm39)	critical splice donor site	probably null
R5655:Ranbp1	UTSW	16	18,059,669 (GRCm39)	missense	probably damaging	1.00
R5965:Ranbp1	UTSW	16	18,063,092 (GRCm39)	missense	probably damaging	0.97
R7080:Ranbp1	UTSW	16	18,063,097 (GRCm39)	missense	possibly damaging	0.51
R7900:Ranbp1	UTSW	16	18,063,161 (GRCm39)	missense	probably damaging	0.97
R8356:Ranbp1	UTSW	16	18,063,170 (GRCm39)	missense	probably damaging	1.00
R8456:Ranbp1	UTSW	16	18,063,170 (GRCm39)	missense	probably damaging	1.00
R8745:Ranbp1	UTSW	16	18,065,244 (GRCm39)	missense	possibly damaging	0.87
R8758:Ranbp1	UTSW	16	18,059,659 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCTGGTCCCTAAGAGCCACAGAAG -3'
(R):5'- GTTAGTAAGTGACCACACATCACCAGC -3'

Sequencing Primer
(F):5'- GCACAGTACATTTTCATGACTGGG -3'
(R):5'- CAGCTTGCTGGACCCATC -3'

Posted On

2013-09-30