Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02801:Ranbp3'

360203

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ranbp3

Ensembl Gene

ENSMUSG00000002372

Gene Name

RAN binding protein 3

Synonyms

2610024N24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL02801

Quality Score

Status

Chromosome

Chromosomal Location

56980294-57018764 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57017766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 474 (V474A)

Ref Sequence

ENSEMBL: ENSMUSP00000002445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002445] [ENSMUST00000067931] [ENSMUST00000164907]

AlphaFold

Q9CT10

Predicted Effect

probably benign
Transcript: ENSMUST00000002445
AA Change: V474A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002445
Gene: ENSMUSG00000002372
AA Change: V474A

Domain	Start	End	E-Value	Type
low complexity region	275	287	N/A	INTRINSIC
RanBD	305	432	1.7e-12	SMART
low complexity region	439	454	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000067931

SMART Domains

Protein: ENSMUSP00000064120
Gene: ENSMUSG00000054723

Domain	Start	End	E-Value	Type
coiled coil region	7	45	N/A	INTRINSIC
low complexity region	112	132	N/A	INTRINSIC
low complexity region	140	150	N/A	INTRINSIC
low complexity region	159	166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164907

SMART Domains

Protein: ENSMUSP00000132817
Gene: ENSMUSG00000054723

Domain	Start	End	E-Value	Type
low complexity region	20	40	N/A	INTRINSIC
low complexity region	48	58	N/A	INTRINSIC
low complexity region	67	74	N/A	INTRINSIC

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 with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap5	A	T	12: 76,375,769 (GRCm39)	K400N	probably benign	Het
Aox1	A	T	1: 58,393,336 (GRCm39)	I1193F	probably damaging	Het
Arhgef16	A	T	4: 154,375,964 (GRCm39)	L10Q	probably damaging	Het
Arl10	T	C	13: 54,723,696 (GRCm39)	V106A	probably benign	Het
Bmi1	T	C	2: 18,686,692 (GRCm39)	Y24H	probably damaging	Het
Cd163	T	A	6: 124,297,488 (GRCm39)	I878K	probably benign	Het
Col12a1	A	G	9: 79,515,696 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,445,868 (GRCm39)		probably null	Het
Dcp2	G	T	18: 44,550,778 (GRCm39)	M417I	probably damaging	Het
Ddx11	T	A	17: 66,455,028 (GRCm39)	C662S	probably benign	Het
Dhx29	G	A	13: 113,101,180 (GRCm39)	C1241Y	probably damaging	Het
Dnajc6	C	T	4: 101,455,010 (GRCm39)	P37L	probably benign	Het
Dqx1	A	G	6: 83,037,476 (GRCm39)		probably null	Het
Dzip1	T	A	14: 119,123,067 (GRCm39)	K643*	probably null	Het
Ecel1	A	G	1: 87,079,725 (GRCm39)	S463P	probably damaging	Het
Eml5	A	G	12: 98,784,104 (GRCm39)	V1361A	possibly damaging	Het
Fads2	C	A	19: 10,060,009 (GRCm39)	A222S	possibly damaging	Het
Fancd2	A	G	6: 113,570,278 (GRCm39)	N1410D	probably benign	Het
Fbxw16	A	G	9: 109,270,144 (GRCm39)	F199S	possibly damaging	Het
Frem2	A	G	3: 53,559,596 (GRCm39)	V1637A	possibly damaging	Het
Gabrg2	A	G	11: 41,803,220 (GRCm39)	S442P	probably damaging	Het
Gprin3	T	C	6: 59,331,966 (GRCm39)	T114A	possibly damaging	Het
Hoxd8	A	G	2: 74,536,912 (GRCm39)	E27G	probably damaging	Het
Isl2	A	G	9: 55,452,816 (GRCm39)		probably null	Het
Lamc2	T	A	1: 153,012,529 (GRCm39)	H715L	probably benign	Het
Lrif1	T	C	3: 106,641,930 (GRCm39)	V102A	possibly damaging	Het
Lrrc39	A	G	3: 116,371,995 (GRCm39)	N254S	possibly damaging	Het
Med13l	T	C	5: 118,883,178 (GRCm39)	W1346R	probably damaging	Het
Melk	T	C	4: 44,360,930 (GRCm39)	I570T	probably damaging	Het
Mlkl	G	A	8: 112,043,064 (GRCm39)	T361M	probably benign	Het
Myo1f	T	A	17: 33,797,111 (GRCm39)	M94K	probably damaging	Het
Naip1	A	G	13: 100,580,876 (GRCm39)	C124R	probably damaging	Het
Nek1	G	A	8: 61,574,095 (GRCm39)		probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Pde1c	G	T	6: 56,150,651 (GRCm39)	N289K	probably damaging	Het
Pfas	G	A	11: 68,879,103 (GRCm39)		probably benign	Het
Pms2	A	T	5: 143,862,653 (GRCm39)	I587F	probably benign	Het
Ppargc1b	T	C	18: 61,440,755 (GRCm39)	E721G	possibly damaging	Het
Ppp2r1b	A	G	9: 50,790,127 (GRCm39)	I435V	probably benign	Het
Psip1	C	T	4: 83,376,357 (GRCm39)	S494N	probably benign	Het
Rnf220	C	T	4: 117,130,448 (GRCm39)	C259Y	probably damaging	Het
Sdr16c6	T	C	4: 4,076,603 (GRCm39)	I99V	probably benign	Het
Slc36a1	A	T	11: 55,116,879 (GRCm39)	I303F	probably benign	Het
Slc4a1	C	T	11: 102,249,972 (GRCm39)		probably null	Het
Syncrip	A	T	9: 88,361,862 (GRCm39)	D84E	probably damaging	Het
Tbc1d9b	T	C	11: 50,043,657 (GRCm39)	Y593H	probably damaging	Het
Tenm2	G	T	11: 35,937,857 (GRCm39)	Y1605*	probably null	Het
Tmem135	T	A	7: 88,803,333 (GRCm39)	H280L	probably benign	Het
Tmem229a	T	A	6: 24,955,121 (GRCm39)	Q211L	probably benign	Het
Txlna	T	C	4: 129,534,201 (GRCm39)	D5G	probably damaging	Het
Vmn2r57	T	C	7: 41,098,056 (GRCm39)	I4V	probably benign	Het
Wdfy3	A	G	5: 102,055,453 (GRCm39)	L1539S	probably damaging	Het
Zdhhc14	T	G	17: 5,777,094 (GRCm39)		probably null	Het

Other mutations in Ranbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Ranbp3	APN	17	57,016,238 (GRCm39)	missense	probably damaging	1.00
IGL03004:Ranbp3	APN	17	57,014,207 (GRCm39)	missense	probably damaging	1.00
Waif	UTSW	17	56,984,208 (GRCm39)	splice site	probably null
R0094:Ranbp3	UTSW	17	57,016,338 (GRCm39)	unclassified	probably benign
R0139:Ranbp3	UTSW	17	57,016,272 (GRCm39)	missense	possibly damaging	0.95
R0419:Ranbp3	UTSW	17	57,015,219 (GRCm39)	missense	possibly damaging	0.92
R0426:Ranbp3	UTSW	17	57,014,169 (GRCm39)	missense	probably benign
R0629:Ranbp3	UTSW	17	57,015,200 (GRCm39)	missense	possibly damaging	0.95
R0632:Ranbp3	UTSW	17	57,009,896 (GRCm39)	splice site	probably benign
R1495:Ranbp3	UTSW	17	57,012,527 (GRCm39)	missense	probably benign	0.03
R1525:Ranbp3	UTSW	17	57,017,865 (GRCm39)	missense	possibly damaging	0.52
R2044:Ranbp3	UTSW	17	56,980,367 (GRCm39)	start gained	probably benign
R2093:Ranbp3	UTSW	17	57,017,145 (GRCm39)	missense	probably damaging	1.00
R4649:Ranbp3	UTSW	17	57,003,640 (GRCm39)	critical splice donor site	probably null
R4780:Ranbp3	UTSW	17	56,980,346 (GRCm39)	start gained	probably benign
R5568:Ranbp3	UTSW	17	57,008,543 (GRCm39)	critical splice donor site	probably null
R5642:Ranbp3	UTSW	17	57,017,703 (GRCm39)	missense	probably benign	0.01
R5806:Ranbp3	UTSW	17	57,017,717 (GRCm39)	missense	probably benign	0.01
R5875:Ranbp3	UTSW	17	57,014,955 (GRCm39)	critical splice donor site	probably null
R6142:Ranbp3	UTSW	17	56,993,018 (GRCm39)	missense	probably benign	0.33
R6250:Ranbp3	UTSW	17	56,984,208 (GRCm39)	splice site	probably null
R6745:Ranbp3	UTSW	17	57,016,308 (GRCm39)	missense	probably benign	0.24
R7222:Ranbp3	UTSW	17	57,017,211 (GRCm39)	missense	probably damaging	1.00
R7571:Ranbp3	UTSW	17	57,014,923 (GRCm39)	missense	probably benign	0.01
R7718:Ranbp3	UTSW	17	57,003,718 (GRCm39)	missense	probably damaging	0.99
R7744:Ranbp3	UTSW	17	57,015,219 (GRCm39)	missense	possibly damaging	0.92
R8504:Ranbp3	UTSW	17	57,015,273 (GRCm39)	missense	probably damaging	0.98
R8746:Ranbp3	UTSW	17	57,009,826 (GRCm39)	missense	probably benign
R9133:Ranbp3	UTSW	17	57,003,791 (GRCm39)	critical splice donor site	probably null

Posted On

2015-12-18