Mutagenetix > Incidental Mutation

Incidental Mutation 'R5996:Ranbp10'

481129

Institutional Source

Beutler Lab

Gene Symbol

Ranbp10

Ensembl Gene

ENSMUSG00000037415

Gene Name

RAN binding protein 10

Synonyms

4432417N03Rik

MMRRC Submission

044175-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5996 (G1)

Quality Score

200.009

Status

Validated

Chromosome

Chromosomal Location

106494940-106553982 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106499672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 519 (M519T)

Ref Sequence

ENSEMBL: ENSMUSP00000040045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041400]

AlphaFold

Q6VN19

Predicted Effect

probably benign
Transcript: ENSMUST00000041400
AA Change: M519T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000040045
Gene: ENSMUSG00000037415
AA Change: M519T

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC
SPRY	128	249	5.47e-44	SMART
LisH	281	313	1.63e-2	SMART
CTLH	319	376	4.19e-14	SMART
low complexity region	437	464	N/A	INTRINSIC
CRA	534	636	2.04e-22	SMART

Meta Mutation Damage Score

0.0689

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

97% (69/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAN is a small GTPase involved in the assembly of microtubules to form mitotic spindles. The protein encoded by this gene is a cytoplasmic guanine nucleotide exchange factor (GEF) that binds beta-tubulin and has GEF activity toward RAN. The encoded protein plays a role in the formation of noncentrosomal microtubules. In addition, this protein may be involved in the regulation of D(1) receptor signaling by protein kinase C delta and protein kinase C gamma. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit slight defects in erythrocyte number and volume, decreased platelet aggregattion and increased bleeding time associated with impaired platelet dense granule release. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,468,928 (GRCm39)	M1T	probably null	Het
A2m	T	A	6: 121,636,353 (GRCm39)	W741R	probably damaging	Het
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Acan	A	G	7: 78,761,068 (GRCm39)	T1927A	probably damaging	Het
Agbl4	A	G	4: 110,812,869 (GRCm39)		probably null	Het
Bltp1	T	C	3: 36,985,265 (GRCm39)	F865S	probably benign	Het
Ccr8	T	A	9: 119,923,529 (GRCm39)	C215S	probably damaging	Het
Cd209b	T	C	8: 3,968,688 (GRCm39)	T314A	probably benign	Het
Cd244a	T	G	1: 171,409,208 (GRCm39)		probably null	Het
Cdh23	T	C	10: 60,249,356 (GRCm39)	E849G	possibly damaging	Het
Cep57	A	G	9: 13,721,175 (GRCm39)	V268A	probably damaging	Het
Clip4	T	C	17: 72,163,305 (GRCm39)	S626P	probably damaging	Het
Col19a1	C	T	1: 24,367,152 (GRCm39)	G477R	probably damaging	Het
Col4a4	T	C	1: 82,433,449 (GRCm39)	D1498G	unknown	Het
Coro6	T	C	11: 77,357,322 (GRCm39)	V177A	probably benign	Het
Crip3	T	C	17: 46,742,210 (GRCm39)	S202P	possibly damaging	Het
Cxcr2	T	C	1: 74,197,619 (GRCm39)	C38R	probably damaging	Het
Cyp4f13	C	T	17: 33,148,447 (GRCm39)	G327R	possibly damaging	Het
Dab2	C	T	15: 6,464,792 (GRCm39)	Q415*	probably null	Het
Dennd5b	A	G	6: 148,969,593 (GRCm39)	F287L	probably benign	Het
Dlg4	G	A	11: 69,908,057 (GRCm39)	R6K	probably benign	Het
Edc4	A	G	8: 106,614,033 (GRCm39)	K429E	probably damaging	Het
Fam107b	T	A	2: 3,780,667 (GRCm39)		probably null	Het
Flt4	A	T	11: 49,541,897 (GRCm39)	D1360V	probably damaging	Het
Gm1043	A	T	5: 37,317,168 (GRCm39)		probably benign	Het
Gm4894	A	T	9: 49,189,970 (GRCm39)	I82L	unknown	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gpr176	A	C	2: 118,114,385 (GRCm39)		probably null	Het
Gtse1	T	C	15: 85,748,381 (GRCm39)	L262P	probably benign	Het
Il4ra	T	C	7: 125,166,393 (GRCm39)	W46R	probably damaging	Het
Itga11	A	G	9: 62,662,955 (GRCm39)	Y557C	probably benign	Het
Kcnab2	A	C	4: 152,519,287 (GRCm39)		probably null	Het
Kcnh7	G	A	2: 63,014,441 (GRCm39)		probably benign	Het
Ly9	T	A	1: 171,429,396 (GRCm39)	Q230L	probably damaging	Het
Map2	C	A	1: 66,454,043 (GRCm39)	H978N	possibly damaging	Het
Map2k6	A	G	11: 110,388,732 (GRCm39)	I225V	possibly damaging	Het
Map3k13	A	G	16: 21,723,995 (GRCm39)	N326D	possibly damaging	Het
Mdga2	A	G	12: 66,844,537 (GRCm39)	F85L	probably benign	Het
Mmp13	C	T	9: 7,274,269 (GRCm39)	P192L	probably damaging	Het
Mrpl37	T	C	4: 106,923,704 (GRCm39)	T97A	probably benign	Het
Mycbpap	C	T	11: 94,404,420 (GRCm39)	G121D	probably benign	Het
Nabp1	A	G	1: 51,510,544 (GRCm39)	S153P	probably benign	Het
Nsun3	A	T	16: 62,590,049 (GRCm39)	F222I	probably benign	Het
Or4q3	A	G	14: 50,582,969 (GRCm39)	V310A	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,991 (GRCm39)	D180V	probably benign	Het
Pex6	C	A	17: 47,025,384 (GRCm39)		probably null	Het
Phrf1	C	A	7: 140,839,015 (GRCm39)		probably benign	Het
Ppp1r36	A	G	12: 76,485,936 (GRCm39)	T365A	possibly damaging	Het
Rfx4	G	A	10: 84,675,881 (GRCm39)	W32*	probably null	Het
Ryr1	T	C	7: 28,723,666 (GRCm39)	N4131S	probably benign	Het
Slc27a6	A	G	18: 58,745,306 (GRCm39)	E580G	possibly damaging	Het
Slc7a14	T	C	3: 31,263,385 (GRCm39)	D719G	probably benign	Het
Slfn9	A	G	11: 82,878,310 (GRCm39)	I273T	possibly damaging	Het
Spice1	A	G	16: 44,205,037 (GRCm39)	E781G	probably benign	Het
Sspo	C	T	6: 48,471,110 (GRCm39)	P4686S	possibly damaging	Het
Stab1	G	T	14: 30,861,508 (GRCm39)	R2500S	probably benign	Het
Stox2	A	T	8: 47,656,182 (GRCm39)	M98K	possibly damaging	Het
Tacc2	T	C	7: 130,225,213 (GRCm39)	S633P	probably damaging	Het
Tex51	G	T	18: 32,595,545 (GRCm39)		probably benign	Het
Tm9sf4	T	C	2: 153,037,491 (GRCm39)		probably null	Het
Togaram2	T	A	17: 72,011,778 (GRCm39)	F486I	probably damaging	Het
Trappc12	A	G	12: 28,797,113 (GRCm39)	S140P	possibly damaging	Het
Ttc29	A	T	8: 79,003,525 (GRCm39)	N247I	probably damaging	Het
Uso1	A	T	5: 92,340,589 (GRCm39)	E668D	probably benign	Het
Vmn2r69	A	T	7: 85,061,117 (GRCm39)		probably null	Het
Xirp2	T	A	2: 67,341,994 (GRCm39)	L1412I	possibly damaging	Het
Xrcc5	T	A	1: 72,349,617 (GRCm39)	D15E	probably damaging	Het
Zfp661	T	C	2: 127,418,968 (GRCm39)	K391E	probably damaging	Het
Zfp729b	A	G	13: 67,741,977 (GRCm39)	I106T	probably benign	Het
Zfyve9	A	C	4: 108,576,557 (GRCm39)	S175A	probably benign	Het

Other mutations in Ranbp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02015:Ranbp10	APN	8	106,506,622 (GRCm39)	missense	probably damaging	1.00
IGL02119:Ranbp10	APN	8	106,553,635 (GRCm39)	missense	probably damaging	1.00
IGL02120:Ranbp10	APN	8	106,532,214 (GRCm39)	missense	probably damaging	1.00
R1532:Ranbp10	UTSW	8	106,500,963 (GRCm39)	missense	probably benign	0.01
R1743:Ranbp10	UTSW	8	106,506,610 (GRCm39)	missense	probably damaging	1.00
R1970:Ranbp10	UTSW	8	106,513,340 (GRCm39)	missense	probably damaging	1.00
R3084:Ranbp10	UTSW	8	106,501,263 (GRCm39)	missense	probably damaging	1.00
R3605:Ranbp10	UTSW	8	106,502,667 (GRCm39)	missense	probably benign	0.40
R3606:Ranbp10	UTSW	8	106,502,667 (GRCm39)	missense	probably benign	0.40
R3607:Ranbp10	UTSW	8	106,502,667 (GRCm39)	missense	probably benign	0.40
R4815:Ranbp10	UTSW	8	106,552,757 (GRCm39)	nonsense	probably null
R6178:Ranbp10	UTSW	8	106,498,296 (GRCm39)	missense	possibly damaging	0.82
R6528:Ranbp10	UTSW	8	106,506,588 (GRCm39)	missense	probably damaging	1.00
R6718:Ranbp10	UTSW	8	106,501,260 (GRCm39)	missense	possibly damaging	0.62
R7082:Ranbp10	UTSW	8	106,500,578 (GRCm39)	missense	probably damaging	0.99
R7732:Ranbp10	UTSW	8	106,499,723 (GRCm39)	missense	probably benign	0.01
R8073:Ranbp10	UTSW	8	106,513,261 (GRCm39)	missense	probably damaging	1.00
R8103:Ranbp10	UTSW	8	106,499,179 (GRCm39)	missense	probably benign	0.20
R8796:Ranbp10	UTSW	8	106,499,665 (GRCm39)	splice site	probably benign
R9152:Ranbp10	UTSW	8	106,499,140 (GRCm39)	missense	probably benign	0.12
R9789:Ranbp10	UTSW	8	106,513,306 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGGAATGGACCTTCCTAC -3'
(R):5'- TCTCAGGTAAACGCCTTCAG -3'

Sequencing Primer
(F):5'- GAATGGACCTTCCTACACAGTGG -3'
(R):5'- CAGGTAAACGCCTTCAGTTTAC -3'

Posted On

2017-06-26