Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01478:Ranbp9'

88523

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ranbp9

Ensembl Gene

ENSMUSG00000038546

Gene Name

RAN binding protein 9

Synonyms

RanBPM, IBAP-1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

IGL01478

Quality Score

Status

Chromosome

Chromosomal Location

43402675-43481282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43414084 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 546 (T546I)

Ref Sequence

ENSEMBL: ENSMUSP00000130636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000144326] [ENSMUST00000222651]

Predicted Effect

probably benign
Transcript: ENSMUST00000144326
AA Change: T546I

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130636
Gene: ENSMUSG00000038546
AA Change: T546I

Domain	Start	End	E-Value	Type
low complexity region	2	114	N/A	INTRINSIC
SPRY	194	315	1.66e-43	SMART
LisH	347	379	6.82e-5	SMART
CTLH	385	442	9.78e-15	SMART
low complexity region	455	478	N/A	INTRINSIC
CRA	596	698	1.6e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220774

Predicted Effect

probably benign
Transcript: ENSMUST00000221092

Predicted Effect

probably benign
Transcript: ENSMUST00000222651
AA Change: T382I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

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 binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display partial neonatal lethality. Survivors display infertility with impaired spermatogenesis and oogenesis, azoospermia and premature ovarian failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,934,609	T613A	probably benign	Het
Cdh16	G	T	8: 104,614,488		probably benign	Het
Epn2	A	G	11: 61,523,086	S419P	probably benign	Het
Eral1	A	T	11: 78,075,732	V234D	probably damaging	Het
Fhad1	T	C	4: 141,951,638	K576E	possibly damaging	Het
Frmd4b	T	A	6: 97,328,293	D170V	probably damaging	Het
Gm4353	A	G	7: 116,083,740	V202A	possibly damaging	Het
Ighmbp2	A	G	19: 3,274,531	I245T	probably benign	Het
Igsf23	G	A	7: 19,938,236		probably benign	Het
Krt1	A	G	15: 101,846,286		probably benign	Het
Mapk8	A	G	14: 33,383,900	V371A	probably benign	Het
Mtrf1	T	G	14: 79,402,920		probably benign	Het
Myzap	A	G	9: 71,515,067		probably null	Het
Nsrp1	C	T	11: 77,050,652	V73I	probably benign	Het
Olfr1089	A	T	2: 86,733,329	Y94*	probably null	Het
Olfr344	T	A	2: 36,568,742	L48H	probably damaging	Het
Olfr670	A	G	7: 104,960,348	I128T	probably damaging	Het
Pex6	C	T	17: 46,725,304	R976C	probably benign	Het
Rfx5	T	C	3: 94,958,440	V350A	possibly damaging	Het
Rnf19b	A	G	4: 129,058,830	E187G	probably damaging	Het
Sbf1	A	G	15: 89,299,743	V1217A	probably damaging	Het
Sfmbt1	T	A	14: 30,811,521	D618E	probably damaging	Het
Sipa1l1	A	G	12: 82,446,898	E1697G	probably benign	Het
Syk	A	G	13: 52,624,748	Y290C	probably benign	Het
Trim69	T	C	2: 122,178,443	L328P	probably damaging	Het
Unc5c	T	A	3: 141,828,451	I911N	probably damaging	Het
Wdr5	T	C	2: 27,533,832	V294A	probably damaging	Het

Other mutations in Ranbp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Ranbp9	APN	13	43480504	missense	probably damaging	1.00
IGL01948:Ranbp9	APN	13	43422553	missense	probably damaging	1.00
IGL02177:Ranbp9	APN	13	43419717	missense	probably damaging	0.99
IGL02382:Ranbp9	APN	13	43436146	splice site	probably null
R0183:Ranbp9	UTSW	13	43425123	missense	probably damaging	1.00
R0401:Ranbp9	UTSW	13	43422658	missense	probably damaging	1.00
R0771:Ranbp9	UTSW	13	43461773	missense	possibly damaging	0.92
R1551:Ranbp9	UTSW	13	43425117	missense	probably benign	0.15
R1644:Ranbp9	UTSW	13	43412539	missense	probably damaging	1.00
R1892:Ranbp9	UTSW	13	43416457	missense	possibly damaging	0.87
R2247:Ranbp9	UTSW	13	43412425	missense	probably damaging	1.00
R4097:Ranbp9	UTSW	13	43421257	missense	probably damaging	0.97
R4794:Ranbp9	UTSW	13	43414076	missense	probably damaging	0.99
R4908:Ranbp9	UTSW	13	43421257	missense	possibly damaging	0.81
R4996:Ranbp9	UTSW	13	43425094	nonsense	probably null
R5024:Ranbp9	UTSW	13	43434855	missense	probably damaging	0.99
R5422:Ranbp9	UTSW	13	43419626	missense	probably benign	0.01
R7069:Ranbp9	UTSW	13	43419622	missense	probably benign	0.24
R7115:Ranbp9	UTSW	13	43406671	missense	probably benign	0.04
R7298:Ranbp9	UTSW	13	43480460	missense	probably benign	0.10
R7382:Ranbp9	UTSW	13	43425114	missense	probably damaging	0.99
R7826:Ranbp9	UTSW	13	43419621	missense	possibly damaging	0.46
R8856:Ranbp9	UTSW	13	43414030	missense	probably damaging	1.00
R8914:Ranbp9	UTSW	13	43425084	missense	probably benign	0.33
X0024:Ranbp9	UTSW	13	43425085	missense	possibly damaging	0.64

Posted On

2013-11-18