Mutagenetix > Incidental Mutation

Incidental Mutation 'R1644:Ranbp9'

173771

Institutional Source

Beutler Lab

Gene Symbol

Ranbp9

Ensembl Gene

ENSMUSG00000038546

Gene Name

RAN binding protein 9

Synonyms

RanBPM, IBAP-1

MMRRC Submission

039680-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R1644 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43556151-43634758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43566015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 424 (R424C)

Ref Sequence

ENSEMBL: ENSMUSP00000152620 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000144326
AA Change: R588C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130636
Gene: ENSMUSG00000038546
AA Change: R588C

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: ENSMUST00000220601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220774

Predicted Effect

probably benign
Transcript: ENSMUST00000221092

Predicted Effect

probably damaging
Transcript: ENSMUST00000222651
AA Change: R424C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.1254

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

98% (62/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	T	1: 11,484,814 (GRCm39)	R8*	probably null	Het
Acacb	A	T	5: 114,333,346 (GRCm39)	H490L	probably damaging	Het
Ace	C	A	11: 105,875,932 (GRCm39)	H417N	probably damaging	Het
Adamtsl3	A	G	7: 82,099,298 (GRCm39)	N151D	possibly damaging	Het
Agap1	A	G	1: 89,591,452 (GRCm39)	N114S	probably damaging	Het
Arap3	A	T	18: 38,117,298 (GRCm39)	V926D	probably damaging	Het
Arhgap12	A	T	18: 6,112,340 (GRCm39)	I8N	probably benign	Het
Arhgef17	A	T	7: 100,578,711 (GRCm39)	F746I	probably damaging	Het
Atp6v0a1	T	C	11: 100,929,612 (GRCm39)	S471P	possibly damaging	Het
Bdp1	A	G	13: 100,197,448 (GRCm39)	V979A	probably benign	Het
Ccdc88c	C	A	12: 100,879,733 (GRCm39)	R1789L	probably damaging	Het
Cckar	A	T	5: 53,857,215 (GRCm39)	N327K	probably benign	Het
Cfap65	T	C	1: 74,956,334 (GRCm39)	T1082A	probably damaging	Het
Clcn7	T	A	17: 25,378,672 (GRCm39)	I719N	probably damaging	Het
Col27a1	C	G	4: 63,246,868 (GRCm39)		probably benign	Het
Cspp1	C	T	1: 10,196,663 (GRCm39)	T179I	probably damaging	Het
Dnah1	C	T	14: 31,024,249 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,132,279 (GRCm39)	V1141A	probably benign	Het
Dusp4	A	G	8: 35,285,633 (GRCm39)	Y298C	probably damaging	Het
Efhc1	C	A	1: 21,037,625 (GRCm39)	Y267*	probably null	Het
Eif2s1	T	A	12: 78,913,295 (GRCm39)		probably null	Het
Epo	A	G	5: 137,481,417 (GRCm39)	V169A	possibly damaging	Het
Esr1	A	T	10: 4,951,380 (GRCm39)	Y586F	probably benign	Het
Fat2	T	C	11: 55,178,609 (GRCm39)	T1484A	possibly damaging	Het
Fat2	T	C	11: 55,187,007 (GRCm39)	T1280A	possibly damaging	Het
Gm5828	T	C	1: 16,839,485 (GRCm39)		noncoding transcript	Het
Idh3b	T	C	2: 130,123,430 (GRCm39)	I187V	possibly damaging	Het
Kif13a	A	C	13: 46,947,398 (GRCm39)	V862G	probably benign	Het
Kndc1	A	G	7: 139,510,669 (GRCm39)	D1327G	probably damaging	Het
Mfsd9	T	A	1: 40,812,958 (GRCm39)	R452S	probably benign	Het
Myh15	C	T	16: 48,952,566 (GRCm39)	R879C	probably benign	Het
Naip2	T	C	13: 100,319,437 (GRCm39)	R260G	possibly damaging	Het
Npat	T	G	9: 53,481,472 (GRCm39)	L1060R	probably damaging	Het
Or2aj4	T	A	16: 19,385,156 (GRCm39)	H159L	probably benign	Het
Or4c126	A	T	2: 89,824,297 (GRCm39)	T187S	possibly damaging	Het
Or4c15	A	T	2: 88,759,731 (GRCm39)	D309E	probably benign	Het
Or52n2b	A	C	7: 104,566,015 (GRCm39)	F163V	probably benign	Het
Or6f2	T	C	7: 139,756,561 (GRCm39)	V176A	probably benign	Het
Pld5	T	C	1: 175,803,192 (GRCm39)	T296A	possibly damaging	Het
Polq	C	T	16: 36,880,626 (GRCm39)	A651V	probably damaging	Het
Polr3a	G	A	14: 24,520,692 (GRCm39)	P607S	probably damaging	Het
Rsl1	G	A	13: 67,325,229 (GRCm39)		probably benign	Het
Sema4c	A	G	1: 36,589,885 (GRCm39)	S490P	probably damaging	Het
Setd3	A	T	12: 108,079,603 (GRCm39)	L300Q	possibly damaging	Het
Slc15a3	T	C	19: 10,834,595 (GRCm39)	I492T	possibly damaging	Het
Stag1	T	C	9: 100,762,953 (GRCm39)		probably benign	Het
Tgm4	A	G	9: 122,880,481 (GRCm39)	Y294C	probably damaging	Het
Tm9sf1	A	G	14: 55,878,757 (GRCm39)	S212P	probably benign	Het
Tmcc1	A	G	6: 116,110,826 (GRCm39)	S156P	probably damaging	Het
Vmn1r184	A	C	7: 25,966,670 (GRCm39)	M139L	probably benign	Het
Vmn1r209	A	C	13: 22,990,652 (GRCm39)	F13V	possibly damaging	Het
Xkr5	T	C	8: 18,984,141 (GRCm39)	E467G	probably benign	Het
Zdbf2	C	T	1: 63,348,131 (GRCm39)	S2170L	possibly damaging	Het
Zfp277	G	T	12: 40,379,609 (GRCm39)		probably null	Het
Zfp62	T	C	11: 49,106,596 (GRCm39)	I229T	probably damaging	Het
Zfp810	A	G	9: 22,190,324 (GRCm39)	S195P	possibly damaging	Het
Zfp94	G	A	7: 24,010,927 (GRCm39)		probably benign	Het

Other mutations in Ranbp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Ranbp9	APN	13	43,633,980 (GRCm39)	missense	probably damaging	1.00
IGL01478:Ranbp9	APN	13	43,567,560 (GRCm39)	missense	probably benign	0.31
IGL01948:Ranbp9	APN	13	43,576,029 (GRCm39)	missense	probably damaging	1.00
IGL02177:Ranbp9	APN	13	43,573,193 (GRCm39)	missense	probably damaging	0.99
IGL02382:Ranbp9	APN	13	43,589,622 (GRCm39)	splice site	probably null
R0183:Ranbp9	UTSW	13	43,578,599 (GRCm39)	missense	probably damaging	1.00
R0401:Ranbp9	UTSW	13	43,576,134 (GRCm39)	missense	probably damaging	1.00
R0771:Ranbp9	UTSW	13	43,615,249 (GRCm39)	missense	possibly damaging	0.92
R1551:Ranbp9	UTSW	13	43,578,593 (GRCm39)	missense	probably benign	0.15
R1892:Ranbp9	UTSW	13	43,569,933 (GRCm39)	missense	possibly damaging	0.87
R2247:Ranbp9	UTSW	13	43,565,901 (GRCm39)	missense	probably damaging	1.00
R4097:Ranbp9	UTSW	13	43,574,733 (GRCm39)	missense	probably damaging	0.97
R4794:Ranbp9	UTSW	13	43,567,552 (GRCm39)	missense	probably damaging	0.99
R4908:Ranbp9	UTSW	13	43,574,733 (GRCm39)	missense	possibly damaging	0.81
R4996:Ranbp9	UTSW	13	43,578,570 (GRCm39)	nonsense	probably null
R5024:Ranbp9	UTSW	13	43,588,331 (GRCm39)	missense	probably damaging	0.99
R5422:Ranbp9	UTSW	13	43,573,102 (GRCm39)	missense	probably benign	0.01
R7069:Ranbp9	UTSW	13	43,573,098 (GRCm39)	missense	probably benign	0.24
R7115:Ranbp9	UTSW	13	43,560,147 (GRCm39)	missense	probably benign	0.04
R7298:Ranbp9	UTSW	13	43,633,936 (GRCm39)	missense	probably benign	0.10
R7382:Ranbp9	UTSW	13	43,578,590 (GRCm39)	missense	probably damaging	0.99
R7826:Ranbp9	UTSW	13	43,573,097 (GRCm39)	missense	possibly damaging	0.46
R8856:Ranbp9	UTSW	13	43,567,506 (GRCm39)	missense	probably damaging	1.00
R8914:Ranbp9	UTSW	13	43,578,560 (GRCm39)	missense	probably benign	0.33
R9433:Ranbp9	UTSW	13	43,576,041 (GRCm39)	missense	probably damaging	1.00
R9657:Ranbp9	UTSW	13	43,557,155 (GRCm39)	missense	unknown
R9664:Ranbp9	UTSW	13	43,578,519 (GRCm39)	missense	probably benign	0.00
X0024:Ranbp9	UTSW	13	43,578,561 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- TTTATCCCGGAAAGCAGGCGAC -3'
(R):5'- TCTCATGGCTGCACATGGAACAC -3'

Sequencing Primer
(F):5'- GACAGACACCCTTACCTTCAG -3'
(R):5'- gcctgtaactccagccc -3'

Posted On

2014-04-24