Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03165:Ranbp1'

411613

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ranbp1

Ensembl Gene

ENSMUSG00000005732

Gene Name

RAN binding protein 1

Synonyms

Htf9a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03165

Quality Score

Status

Chromosome

Chromosomal Location

18239784-18248732 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 18247281 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052325] [ENSMUST00000100099] [ENSMUST00000115640] [ENSMUST00000115645] [ENSMUST00000128045] [ENSMUST00000140206] [ENSMUST00000231509]

AlphaFold

P34022

Predicted Effect

probably benign
Transcript: ENSMUST00000052325

SMART Domains

Protein: ENSMUSP00000055288
Gene: ENSMUSG00000005732

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000059696

Predicted Effect

probably benign
Transcript: ENSMUST00000100099

SMART Domains

Protein: ENSMUSP00000111303
Gene: ENSMUSG00000022721

Domain	Start	End	E-Value	Type
low complexity region	35	44	N/A	INTRINSIC
RRM	64	132	1.37e-2	SMART
coiled coil region	171	195	N/A	INTRINSIC
Pfam:tRNA_U5-meth_tr	380	579	1.2e-20	PFAM
Pfam:PCMT	386	482	1.1e-8	PFAM
Pfam:MTS	389	489	6.2e-9	PFAM
Pfam:Methyltransf_4	397	497	4.2e-7	PFAM
Pfam:Methyltransf_31	420	546	6.2e-15	PFAM
Pfam:Methyltransf_18	422	523	9.3e-11	PFAM
Pfam:Methyltransf_26	423	538	5.3e-12	PFAM
Pfam:Methyltransf_25	426	511	3.5e-8	PFAM
Pfam:Methyltransf_11	427	487	5.6e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115640

SMART Domains

Protein: ENSMUSP00000111304
Gene: ENSMUSG00000022721

Domain	Start	End	E-Value	Type
low complexity region	35	44	N/A	INTRINSIC
RRM	64	132	1.37e-2	SMART
coiled coil region	171	195	N/A	INTRINSIC
Pfam:tRNA_U5-meth_tr	380	579	2.6e-20	PFAM
Pfam:PCMT	386	482	3.4e-9	PFAM
Pfam:MTS	392	489	1e-7	PFAM
Pfam:Cons_hypoth95	405	542	2.7e-7	PFAM
Pfam:Methyltransf_31	420	547	2.1e-15	PFAM
Pfam:Methyltransf_18	422	526	2.9e-12	PFAM
Pfam:Methyltransf_4	423	499	2.6e-7	PFAM
Pfam:Methyltransf_25	426	511	1.3e-8	PFAM
Pfam:Methyltransf_11	427	489	3.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115645

SMART Domains

Protein: ENSMUSP00000111309
Gene: ENSMUSG00000005732

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: ENSMUST00000123073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127239

Predicted Effect

probably benign
Transcript: ENSMUST00000128045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134035

Predicted Effect

probably benign
Transcript: ENSMUST00000140206

SMART Domains

Protein: ENSMUSP00000121216
Gene: ENSMUSG00000022721

Domain	Start	End	E-Value	Type
low complexity region	35	44	N/A	INTRINSIC
RRM	64	132	1.37e-2	SMART
coiled coil region	171	195	N/A	INTRINSIC
Pfam:tRNA_U5-meth_tr	383	481	3.7e-8	PFAM
Pfam:PCMT	386	481	1.5e-6	PFAM
Pfam:MTS	389	493	2.5e-7	PFAM
Pfam:Methyltransf_31	420	491	1.5e-9	PFAM
Pfam:Methyltransf_18	422	508	4.1e-8	PFAM
Pfam:Methyltransf_26	423	523	3.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145112

SMART Domains

Protein: ENSMUSP00000117026
Gene: ENSMUSG00000022721

Domain	Start	End	E-Value	Type
Pfam:PCMT	118	220	4.2e-7	PFAM
Pfam:tRNA_U5-meth_tr	118	280	4e-16	PFAM
Pfam:MTS	129	229	5.4e-6	PFAM
Pfam:Cons_hypoth95	143	277	6.5e-5	PFAM
Pfam:PrmA	146	234	2e-4	PFAM
Pfam:Ubie_methyltran	148	223	1e-4	PFAM
Pfam:Methyltransf_31	158	271	6.1e-14	PFAM
Pfam:Methyltransf_18	160	263	8.3e-11	PFAM
Pfam:Methyltransf_4	161	237	7.1e-5	PFAM
Pfam:Methyltransf_26	161	274	2e-6	PFAM
Pfam:Methyltransf_25	164	251	5.2e-7	PFAM
Pfam:Methyltransf_11	165	227	9.4e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147273

Predicted Effect

probably benign
Transcript: ENSMUST00000232293

Predicted Effect

probably benign
Transcript: ENSMUST00000231509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232342

Predicted Effect

probably benign
Transcript: ENSMUST00000232144

Coding Region Coverage

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,094,394	I334V	probably benign	Het
Axdnd1	T	A	1: 156,378,389	Y519F	probably benign	Het
C4b	A	G	17: 34,739,955	F500S	probably benign	Het
Cacng2	A	T	15: 77,995,663	I153N	possibly damaging	Het
Ces1d	T	A	8: 93,189,519	H160L	probably benign	Het
Cnnm3	T	G	1: 36,525,232		probably benign	Het
Ctnna3	A	G	10: 64,945,941	T728A	probably damaging	Het
Cyp2g1	G	A	7: 26,809,776	V92M	possibly damaging	Het
Dock2	C	A	11: 34,687,533	V35F	probably damaging	Het
Eif2a	C	A	3: 58,548,628	Y349*	probably null	Het
Erp44	C	T	4: 48,236,872		probably null	Het
Flg2	C	T	3: 93,214,611	H1363Y	unknown	Het
Flnc	G	T	6: 29,449,378	G1425W	probably damaging	Het
Frem3	A	G	8: 80,612,529	N484D	probably benign	Het
Fstl3	A	G	10: 79,779,965	D95G	probably benign	Het
Gldc	A	G	19: 30,098,993	S1018P	possibly damaging	Het
Gstk1	T	G	6: 42,249,434	I159S	probably benign	Het
Herc2	A	G	7: 56,191,912	E3513G	probably damaging	Het
Hpca	A	T	4: 129,118,590	I51N	probably damaging	Het
Hsd17b7	C	T	1: 169,953,080	E320K	probably damaging	Het
Igkv4-74	T	C	6: 69,185,305		probably benign	Het
Kdm7a	C	A	6: 39,170,914		probably benign	Het
Olfr1040	A	C	2: 86,146,068	L222R	possibly damaging	Het
Olfr382	A	T	11: 73,516,884	L105*	probably null	Het
Olfr619	T	C	7: 103,604,011	I119T	probably damaging	Het
Pa2g4	A	T	10: 128,559,060		probably null	Het
Pdlim3	T	A	8: 45,918,998	L360Q	possibly damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Polk	T	A	13: 96,516,688	Q68L	probably benign	Het
Ppfia2	T	G	10: 106,767,487	L195R	probably damaging	Het
Rbm12b1	A	G	4: 12,145,845	R606G	possibly damaging	Het
Ryr1	A	G	7: 29,105,040	V488A	probably benign	Het
Sall2	A	T	14: 52,314,168	D521E	probably damaging	Het
Sntg1	A	T	1: 8,445,104	C402S	probably damaging	Het
Spg7	T	C	8: 123,080,812		probably null	Het
Stk31	G	A	6: 49,445,264	E750K	probably damaging	Het
Tlr2	A	G	3: 83,837,948	I276T	probably benign	Het
Trav12-2	A	T	14: 53,616,749	H60L	probably benign	Het
Urb1	A	G	16: 90,780,304	L775S	probably damaging	Het
Utp14b	A	G	1: 78,664,520	D45G	probably damaging	Het

Other mutations in Ranbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0189:Ranbp1	UTSW	16	18241743	critical splice donor site	probably null
R0764:Ranbp1	UTSW	16	18240158	nonsense	probably null
R3276:Ranbp1	UTSW	16	18247429	unclassified	probably benign
R4381:Ranbp1	UTSW	16	18247344	missense	probably damaging	1.00
R4620:Ranbp1	UTSW	16	18240104	unclassified	probably benign
R5127:Ranbp1	UTSW	16	18247287	critical splice donor site	probably null
R5655:Ranbp1	UTSW	16	18241805	missense	probably damaging	1.00
R5965:Ranbp1	UTSW	16	18245228	missense	probably damaging	0.97
R7080:Ranbp1	UTSW	16	18245233	missense	possibly damaging	0.51
R7900:Ranbp1	UTSW	16	18245297	missense	probably damaging	0.97
R8356:Ranbp1	UTSW	16	18245306	missense	probably damaging	1.00
R8456:Ranbp1	UTSW	16	18245306	missense	probably damaging	1.00
R8745:Ranbp1	UTSW	16	18247380	missense	possibly damaging	0.87
R8758:Ranbp1	UTSW	16	18241795	missense	probably damaging	0.98

Posted On

2016-08-02