Mutagenetix > Incidental Mutation

Incidental Mutation 'R1525:Ranbp3'

167816

Institutional Source

Beutler Lab

Gene Symbol

Ranbp3

Ensembl Gene

ENSMUSG00000002372

Gene Name

RAN binding protein 3

Synonyms

2610024N24Rik

MMRRC Submission

040872-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R1525 (G1)

Quality Score

157

Status

Not validated

Chromosome

Chromosomal Location

56673225-56711769 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56710865 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 481 (D481G)

Ref Sequence

ENSEMBL: ENSMUSP00000002445 (fasta)

Gene Model

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

AlphaFold

Q9CT10

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002445
AA Change: D481G

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000002445
Gene: ENSMUSG00000002372
AA Change: D481G

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

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,019	W144C	probably benign	Het
4931440F15Rik	A	C	11: 29,823,994	Y488D	probably benign	Het
Abcc3	A	T	11: 94,361,236	H840Q	probably benign	Het
Amotl2	C	T	9: 102,728,568	R540C	probably damaging	Het
Brpf1	A	G	6: 113,317,154	E605G	probably damaging	Het
Cacna2d3	T	C	14: 28,972,242	I865V	probably benign	Het
Cdh24	A	T	14: 54,638,589	F199I	probably damaging	Het
Cdk9	A	G	2: 32,710,509	V27A	probably damaging	Het
Cfap69	G	T	5: 5,640,230		probably null	Het
Cyp2d11	G	T	15: 82,389,297	L458I	probably damaging	Het
Dchs1	T	C	7: 105,758,931	E1898G	probably damaging	Het
Dennd4b	G	T	3: 90,270,870	L456F	probably damaging	Het
Dgat1	T	C	15: 76,511,586	T66A	probably benign	Het
Dock10	C	A	1: 80,606,164		probably null	Het
Fam110b	A	G	4: 5,799,578	D332G	possibly damaging	Het
Frmd4b	G	A	6: 97,296,386	P628S	probably damaging	Het
Ice1	A	T	13: 70,605,410	H852Q	probably benign	Het
Il17ra	T	C	6: 120,473,790	V116A	probably damaging	Het
Ints9	T	C	14: 64,995,011	I173T	probably benign	Het
Kctd14	A	T	7: 97,457,867	M110L	probably benign	Het
Krt6a	T	G	15: 101,694,202	Y16S	probably benign	Het
Lamc2	T	C	1: 153,130,756	N883S	probably benign	Het
Larp4b	C	T	13: 9,145,450	T195M	probably damaging	Het
Lrp1	A	G	10: 127,539,529	L4432P	probably damaging	Het
Mei4	T	C	9: 81,890,199	S22P	probably damaging	Het
Mep1a	T	C	17: 43,491,636	Q166R	probably damaging	Het
Mroh2b	C	A	15: 4,951,130		probably null	Het
Myoc	T	G	1: 162,648,651	L308R	probably damaging	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Olfr1188	C	G	2: 88,559,641	S57R	probably damaging	Het
Olfr50	A	T	2: 36,794,143	R302S	probably null	Het
Olfr720	T	A	14: 14,175,725	Y119F	probably damaging	Het
Pdilt	T	A	7: 119,487,994	T478S	probably damaging	Het
Pias1	T	C	9: 62,920,487	K222E	probably damaging	Het
Prss16	A	C	13: 22,009,443	L61V	possibly damaging	Het
Pvr	G	A	7: 19,910,626	Q328*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,908		probably benign	Het
Ryr3	G	T	2: 112,678,090	D3419E	probably damaging	Het
Scn1a	C	T	2: 66,319,462	W946*	probably null	Het
Sh3pxd2a	T	C	19: 47,278,425	K242E	probably damaging	Het
Slc34a2	A	G	5: 53,069,506	D657G	probably benign	Het
Stard9	T	A	2: 120,702,052	I2930K	probably benign	Het
Syna	T	C	5: 134,559,258	D279G	probably benign	Het
Tfr2	T	C	5: 137,579,030	F415L	probably benign	Het
Tmem97	T	A	11: 78,542,760	Y103F	probably damaging	Het
Tmem97	A	T	11: 78,542,761	Y103N	probably damaging	Het
Txndc2	T	A	17: 65,638,315	D289V	probably damaging	Het
Zbtb1	T	G	12: 76,386,432	D397E	probably benign	Het
Zc3h18	T	C	8: 122,413,938	S847P	probably benign	Het
Zfp382	G	A	7: 30,133,719	G265E	probably damaging	Het
Zfp410	T	C	12: 84,322,966	L39S	probably damaging	Het
Zfp729a	G	T	13: 67,619,321	P930T	probably benign	Het

Other mutations in Ranbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Ranbp3	APN	17	56709238	missense	probably damaging	1.00
IGL02801:Ranbp3	APN	17	56710766	missense	probably benign
IGL03004:Ranbp3	APN	17	56707207	missense	probably damaging	1.00
Waif	UTSW	17	56677208	splice site	probably null
R0094:Ranbp3	UTSW	17	56709338	unclassified	probably benign
R0139:Ranbp3	UTSW	17	56709272	missense	possibly damaging	0.95
R0419:Ranbp3	UTSW	17	56708219	missense	possibly damaging	0.92
R0426:Ranbp3	UTSW	17	56707169	missense	probably benign
R0629:Ranbp3	UTSW	17	56708200	missense	possibly damaging	0.95
R0632:Ranbp3	UTSW	17	56702896	splice site	probably benign
R1495:Ranbp3	UTSW	17	56705527	missense	probably benign	0.03
R2044:Ranbp3	UTSW	17	56673367	start gained	probably benign
R2093:Ranbp3	UTSW	17	56710145	missense	probably damaging	1.00
R4649:Ranbp3	UTSW	17	56696640	critical splice donor site	probably null
R4780:Ranbp3	UTSW	17	56673346	start gained	probably benign
R5568:Ranbp3	UTSW	17	56701543	critical splice donor site	probably null
R5642:Ranbp3	UTSW	17	56710703	missense	probably benign	0.01
R5806:Ranbp3	UTSW	17	56710717	missense	probably benign	0.01
R5875:Ranbp3	UTSW	17	56707955	critical splice donor site	probably null
R6142:Ranbp3	UTSW	17	56686018	missense	probably benign	0.33
R6250:Ranbp3	UTSW	17	56677208	splice site	probably null
R6745:Ranbp3	UTSW	17	56709308	missense	probably benign	0.24
R7222:Ranbp3	UTSW	17	56710211	missense	probably damaging	1.00
R7571:Ranbp3	UTSW	17	56707923	missense	probably benign	0.01
R7718:Ranbp3	UTSW	17	56696718	missense	probably damaging	0.99
R7744:Ranbp3	UTSW	17	56708219	missense	possibly damaging	0.92
R8504:Ranbp3	UTSW	17	56708273	missense	probably damaging	0.98
R8746:Ranbp3	UTSW	17	56702826	missense	probably benign
R9133:Ranbp3	UTSW	17	56696791	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACTGTATGCTGCACTGCACCACC -3'
(R):5'- AGCTGTGACAAGTGTCAATGTGCC -3'

Sequencing Primer
(F):5'- ACCGCATCCTGGCTCTG -3'
(R):5'- CAATATGATGAGGTCTGAGTCCC -3'

Posted On

2014-04-13