Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Ranbp9'

368874

Institutional Source

Beutler Lab

Gene Symbol

Ranbp9

Ensembl Gene

ENSMUSG00000038546

Gene Name

RAN binding protein 9

Synonyms

RanBPM, IBAP-1

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43556151-43634758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43567552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 549 (Y549H)

Ref Sequence

ENSEMBL: ENSMUSP00000130636 (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: Y549H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130636
Gene: ENSMUSG00000038546
AA Change: Y549H

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

possibly damaging
Transcript: ENSMUST00000222651
AA Change: Y385H

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.0820

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,198 (GRCm39)	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,459,978 (GRCm39)	E537G	probably damaging	Het
Asic3	C	T	5: 24,620,895 (GRCm39)	A259V	probably damaging	Het
Bcar1	G	A	8: 112,447,552 (GRCm39)	Q142*	probably null	Het
Bcas3	T	C	11: 85,400,294 (GRCm39)	V200A	probably damaging	Het
Cd302	A	T	2: 60,102,493 (GRCm39)	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984 (GRCm39)	N387K	probably damaging	Het
Copa	T	A	1: 171,946,888 (GRCm39)	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,038,059 (GRCm39)	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,171,420 (GRCm39)	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,153,199 (GRCm39)	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,862,300 (GRCm39)	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,761,003 (GRCm39)	Y114F	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Epm2a	A	G	10: 11,266,597 (GRCm39)	D114G	probably benign	Het
Exoc5	T	C	14: 49,286,357 (GRCm39)		probably null	Het
Fam135a	G	A	1: 24,068,241 (GRCm39)	T706I	probably benign	Het
Fasn	A	G	11: 120,702,121 (GRCm39)	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,595 (GRCm39)	E255G	probably damaging	Het
Galnt7	A	T	8: 57,998,397 (GRCm39)	Y311N	probably damaging	Het
Grid1	T	C	14: 34,544,579 (GRCm39)	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933 (GRCm39)	F331L	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif1a	T	C	1: 92,953,449 (GRCm39)	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,806,707 (GRCm39)	F1022L	probably damaging	Het
Med16	G	T	10: 79,735,951 (GRCm39)	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,439,155 (GRCm39)		probably benign	Het
Myh7b	G	A	2: 155,465,186 (GRCm39)	V681I	probably benign	Het
Ndc1	A	G	4: 107,247,419 (GRCm39)	E409G	probably benign	Het
Necap2	A	G	4: 140,798,912 (GRCm39)		probably benign	Het
Or2a57	T	A	6: 43,212,629 (GRCm39)	L29H	probably damaging	Het
Or4p21	A	T	2: 88,276,691 (GRCm39)	M197K	probably benign	Het
Or7g29	C	T	9: 19,286,841 (GRCm39)	S112N	probably benign	Het
Parp12	G	A	6: 39,094,744 (GRCm39)	T117I	probably benign	Het
Pars2	C	A	4: 106,511,407 (GRCm39)	C396*	probably null	Het
Prg4	A	T	1: 150,330,297 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,114,492 (GRCm39)	T523I	probably damaging	Het
Prph	T	A	15: 98,955,308 (GRCm39)	L425Q	probably damaging	Het
Rbm12	A	T	2: 155,937,489 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,549,183 (GRCm39)	Y75C	probably damaging	Het
Rock2	G	A	12: 16,990,408 (GRCm39)	R110H	probably damaging	Het
Samd1	G	A	8: 84,726,346 (GRCm39)	E468K	probably damaging	Het
Samd11	T	A	4: 156,333,922 (GRCm39)	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,065,151 (GRCm39)	G37V	probably damaging	Het
Sf1	C	A	19: 6,425,694 (GRCm39)		probably benign	Het
Slc17a5	T	A	9: 78,481,997 (GRCm39)	H183L	probably damaging	Het
Slco1a7	A	G	6: 141,713,288 (GRCm39)	V31A	probably benign	Het
Smgc	T	A	15: 91,725,657 (GRCm39)	S13T	probably benign	Het
Snapin	A	G	3: 90,398,092 (GRCm39)		probably benign	Het
Spata31e4	C	G	13: 50,857,275 (GRCm39)	P971R	probably benign	Het
Ssc5d	C	T	7: 4,946,744 (GRCm39)	P1033S	probably benign	Het
Strn3	T	C	12: 51,696,954 (GRCm39)	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,072,932 (GRCm39)	F238L	possibly damaging	Het
Tbck	G	A	3: 132,392,729 (GRCm39)	V57M	possibly damaging	Het
Tgm3	A	G	2: 129,883,875 (GRCm39)	D511G	probably benign	Het
Tlr5	T	C	1: 182,801,461 (GRCm39)	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,887,754 (GRCm39)		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,335,047 (GRCm39)	C168Y	probably damaging	Het
Tph2	G	T	10: 115,018,675 (GRCm39)	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,551,702 (GRCm39)		probably null	Het
Ttc14	A	T	3: 33,857,298 (GRCm39)	M215L	probably benign	Het
Ube3c	A	G	5: 29,802,083 (GRCm39)	N120S	probably benign	Het
Ubr2	A	T	17: 47,241,371 (GRCm39)	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,776,602 (GRCm39)	T318A	probably benign	Het
Washc2	T	C	6: 116,235,610 (GRCm39)	V941A	probably benign	Het
Wdfy3	A	G	5: 102,091,809 (GRCm39)	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,693,188 (GRCm39)	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,236,862 (GRCm39)	D537A	probably benign	Het
Zfp57	A	G	17: 37,321,022 (GRCm39)	N292S	possibly damaging	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
R1644:Ranbp9	UTSW	13	43,566,015 (GRCm39)	missense	probably damaging	1.00
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
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'- ATGCTTAGCTGTGAATCAGTCCAAG -3'
(R):5'- TCCTTCATCTCCAGGAGTGC -3'

Sequencing Primer
(F):5'- GCTGTGAATCAGTCCAAGTAAAAAC -3'
(R):5'- CATCTCCAGGAGTGCAAATTTG -3'

Posted On

2016-02-04