Mutagenetix > Incidental Mutation

Incidental Mutation 'R0412:Ranbp6'

36747

Institutional Source

Beutler Lab

Gene Symbol

Ranbp6

Ensembl Gene

ENSMUSG00000074909

Gene Name

RAN binding protein 6

Synonyms

MMRRC Submission

038614-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R0412 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

29808400-29812974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29812083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 290 (V290I)

Ref Sequence

ENSEMBL: ENSMUSP00000100503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099525]

AlphaFold

Q8BIV3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099525
AA Change: V290I

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100503
Gene: ENSMUSG00000074909
AA Change: V290I

Domain	Start	End	E-Value	Type
low complexity region	70	78	N/A	INTRINSIC
Pfam:HEAT_2	367	475	2.4e-12	PFAM
Pfam:HEAT_EZ	380	434	1.1e-9	PFAM
Pfam:HEAT	409	438	8.3e-7	PFAM
Pfam:HEAT	916	944	1.1e-6	PFAM

Meta Mutation Damage Score

0.1851

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.2%

Validation Efficiency

94% (67/71)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	C	G	7: 29,530,570		noncoding transcript	Het
Arap1	C	A	7: 101,390,222	A563D	probably damaging	Het
Arhgap28	G	A	17: 67,896,258	L67F	probably damaging	Het
Atp7b	G	T	8: 21,995,659		probably null	Het
Auts2	A	G	5: 131,446,831	F485L	probably benign	Het
Ccdc68	A	G	18: 69,960,439	E239G	probably damaging	Het
Cdc42bpg	T	G	19: 6,313,457	L449R	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Ddx41	G	T	13: 55,530,608	S630Y	probably damaging	Het
Dntt	T	C	19: 41,042,933	L274P	probably damaging	Het
Fhl4	G	T	10: 85,098,816	H34N	possibly damaging	Het
Filip1	A	T	9: 79,820,289	N349K	possibly damaging	Het
Gm9894	C	T	13: 67,765,026		noncoding transcript	Het
Gpr179	A	G	11: 97,338,807	S841P	probably damaging	Het
Gpr35	G	T	1: 92,982,784	V73L	probably benign	Het
Grik5	A	G	7: 25,013,674	V809A	possibly damaging	Het
H2-Bl	T	A	17: 36,081,521		probably benign	Het
Heatr5b	T	C	17: 78,820,854	T451A	probably benign	Het
Hmcn2	G	A	2: 31,388,247	V1654M	probably damaging	Het
Htra3	G	T	5: 35,671,065	A157E	probably damaging	Het
Igf2r	A	T	17: 12,683,948	V2405D	probably damaging	Het
Irs3	C	A	5: 137,643,877	R433L	probably benign	Het
Kcmf1	G	A	6: 72,848,241	Q239*	probably null	Het
Kcnk9	A	G	15: 72,513,056		probably benign	Het
Kif28	A	G	1: 179,702,526	V622A	probably benign	Het
Klrb1f	A	T	6: 129,054,331	I164F	probably benign	Het
Lama2	A	G	10: 27,190,625	S1087P	possibly damaging	Het
Mchr1	A	T	15: 81,235,747		probably benign	Het
Mcidas	A	G	13: 112,999,143	T367A	probably damaging	Het
Mphosph8	A	C	14: 56,674,413	K298Q	probably damaging	Het
Mroh2a	G	T	1: 88,235,216	Q360H	probably benign	Het
Mst1	A	C	9: 108,083,594	D461A	probably benign	Het
Nckap1l	A	T	15: 103,464,652	S311C	probably benign	Het
Olfr1036	C	T	2: 86,075,091	A117V	probably benign	Het
Olfr1233	T	A	2: 89,340,078	M75L	probably benign	Het
Olfr1385	T	A	11: 49,494,767	V78E	probably damaging	Het
Olfr251	A	C	9: 38,378,794	K298N	probably damaging	Het
Pde3a	T	G	6: 141,498,684	C1073G	probably damaging	Het
Pkhd1	T	C	1: 20,117,788	D3432G	probably damaging	Het
Ppargc1b	G	T	18: 61,315,861	P130Q	probably damaging	Het
Ppp6r1	A	G	7: 4,642,214	I228T	probably damaging	Het
Pram1	A	G	17: 33,641,506	N349S	probably benign	Het
Rcan3	A	T	4: 135,416,603		probably null	Het
Scn8a	G	C	15: 101,008,306		probably benign	Het
Slc12a5	C	T	2: 164,994,062	T900M	probably benign	Het
Srsf10	A	G	4: 135,858,403	Y55C	probably damaging	Het
Syt7	G	T	19: 10,444,080	E450*	probably null	Het
Tbrg4	T	C	11: 6,623,832	K130R	probably benign	Het
Tgm7	C	A	2: 121,101,065	V206F	probably damaging	Het
Tmem131l	T	C	3: 84,031,648	D67G	probably damaging	Het
Ttc7	A	G	17: 87,330,044	K409R	probably benign	Het
Unc80	A	T	1: 66,550,937		probably benign	Het
Vmn1r171	C	T	7: 23,632,655	L102F	possibly damaging	Het
Vmn2r59	A	C	7: 42,046,492		probably benign	Het
Vsig2	A	G	9: 37,542,690	R191G	probably damaging	Het
Wdr86	T	A	5: 24,718,234	Q153H	probably benign	Het
Xxylt1	T	A	16: 31,007,798	N233I	probably damaging	Het
Zfp160	A	T	17: 21,026,877	E563V	probably damaging	Het
Zfp345	T	A	2: 150,473,403	E71D	probably benign	Het
Zfp541	A	G	7: 16,082,174	D862G	possibly damaging	Het
Zfp639	A	C	3: 32,517,110	Q47P	possibly damaging	Het

Other mutations in Ranbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02020:Ranbp6	APN	19	29809776	missense	probably benign	0.00
IGL02665:Ranbp6	APN	19	29812901	missense	possibly damaging	0.64
IGL02943:Ranbp6	APN	19	29812124	missense	possibly damaging	0.91
IGL03018:Ranbp6	APN	19	29811389	missense	probably damaging	1.00
IGL03219:Ranbp6	APN	19	29810280	missense	probably damaging	1.00
R0137:Ranbp6	UTSW	19	29809697	missense	probably benign	0.16
R1171:Ranbp6	UTSW	19	29812279	missense	probably benign	0.37
R1521:Ranbp6	UTSW	19	29811446	missense	probably benign
R1967:Ranbp6	UTSW	19	29812500	nonsense	probably null
R2257:Ranbp6	UTSW	19	29811549	missense	possibly damaging	0.47
R4490:Ranbp6	UTSW	19	29810333	missense	probably damaging	1.00
R4624:Ranbp6	UTSW	19	29810863	nonsense	probably null
R4625:Ranbp6	UTSW	19	29810863	nonsense	probably null
R4626:Ranbp6	UTSW	19	29810863	nonsense	probably null
R4649:Ranbp6	UTSW	19	29810321	missense	probably benign	0.23
R4709:Ranbp6	UTSW	19	29811584	missense	probably benign	0.00
R4777:Ranbp6	UTSW	19	29811637	missense	probably damaging	1.00
R4895:Ranbp6	UTSW	19	29809775	missense	possibly damaging	0.93
R5362:Ranbp6	UTSW	19	29811728	missense	probably benign	0.30
R5379:Ranbp6	UTSW	19	29811683	missense	probably damaging	1.00
R5617:Ranbp6	UTSW	19	29812463	missense	probably damaging	1.00
R6264:Ranbp6	UTSW	19	29812626	missense	probably benign	0.00
R7091:Ranbp6	UTSW	19	29812716	missense	probably damaging	1.00
R7234:Ranbp6	UTSW	19	29812062	missense	possibly damaging	0.67
R7664:Ranbp6	UTSW	19	29812076	missense	possibly damaging	0.90
R7904:Ranbp6	UTSW	19	29812413	missense	probably benign
R7915:Ranbp6	UTSW	19	29812673	missense	probably benign
R8023:Ranbp6	UTSW	19	29811822	missense	possibly damaging	0.81
R8366:Ranbp6	UTSW	19	29811899	missense	probably damaging	1.00
R9037:Ranbp6	UTSW	19	29812917	missense	probably benign
R9269:Ranbp6	UTSW	19	29809988	missense	probably damaging	0.99
R9461:Ranbp6	UTSW	19	29809763	missense	possibly damaging	0.64
X0024:Ranbp6	UTSW	19	29812440	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCCTTGGTCATTGGCAAAACAAC -3'
(R):5'- ACAGGCTGTGAATGATTCCTGCTAC -3'

Sequencing Primer
(F):5'- AGTCTGTCTAGGGCACTCTCAG -3'
(R):5'- GAATGATTCCTGCTACCAGGATG -3'

Posted On

2013-05-09