Mutagenetix > Incidental Mutation

Incidental Mutation 'R6178:Ranbp10'

487880

Institutional Source

Beutler Lab

Gene Symbol

Ranbp10

Ensembl Gene

ENSMUSG00000037415

Gene Name

RAN binding protein 10

Synonyms

4432417N03Rik

MMRRC Submission

044320-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6178 (G1)

Quality Score

145.008

Status

Validated

Chromosome

Chromosomal Location

106494940-106553982 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106498296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 624 (S624P)

Ref Sequence

ENSEMBL: ENSMUSP00000040045 (fasta)

Gene Model

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

AlphaFold

Q6VN19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041400
AA Change: S624P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040045
Gene: ENSMUSG00000037415
AA Change: S624P

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

0.1742

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (54/55)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,678,468 (GRCm39)	I61V	probably benign	Het
Afg3l2	G	A	18: 67,542,598 (GRCm39)	T616I	possibly damaging	Het
Aktip	T	C	8: 91,852,671 (GRCm39)	N195S	probably damaging	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Atg7	T	A	6: 114,701,856 (GRCm39)	I621N	probably damaging	Het
Becn1	T	A	11: 101,182,336 (GRCm39)	I283F	probably damaging	Het
Btnl12	T	C	16: 37,676,422 (GRCm39)	Y115C	probably damaging	Het
C4b	T	C	17: 34,952,380 (GRCm39)	T1220A	probably benign	Het
Celsr1	C	A	15: 85,785,222 (GRCm39)	R3004M	probably benign	Het
Clspn	A	T	4: 126,471,529 (GRCm39)		probably null	Het
Csmd3	T	C	15: 48,536,854 (GRCm39)	Y116C	probably damaging	Het
Dcp1a	T	G	14: 30,245,261 (GRCm39)	*603G	probably null	Het
Dmrtc1b	C	T	X: 101,757,169 (GRCm39)	P205S	possibly damaging	Het
Fev	G	T	1: 74,923,698 (GRCm39)		probably benign	Het
Fry	T	A	5: 150,377,987 (GRCm39)	V393E	probably damaging	Het
Gm30646	A	G	7: 30,132,081 (GRCm39)		probably null	Het
Gm3676	C	T	14: 41,363,452 (GRCm39)	E175K	probably benign	Het
Gm4847	T	C	1: 166,469,905 (GRCm39)	Y56C	probably damaging	Het
Gm5422	T	C	10: 31,125,688 (GRCm39)		noncoding transcript	Het
Gstm6	A	G	3: 107,848,397 (GRCm39)	V174A	probably benign	Het
Isoc1	G	T	18: 58,804,664 (GRCm39)	V191F	possibly damaging	Het
Kalrn	T	A	16: 33,874,009 (GRCm39)	D132V	possibly damaging	Het
Kcp	T	C	6: 29,482,887 (GRCm39)	D1394G	possibly damaging	Het
Marchf10	T	G	11: 105,280,440 (GRCm39)	D615A	probably damaging	Het
Mau2	A	G	8: 70,495,187 (GRCm39)	I50T	probably damaging	Het
Mgp	A	G	6: 136,849,722 (GRCm39)	C79R	probably damaging	Het
Mpdz	T	A	4: 81,226,602 (GRCm39)	K1344N	probably damaging	Het
Mrgpre	T	A	7: 143,334,708 (GRCm39)	Y265F	possibly damaging	Het
Mro	G	A	18: 74,006,295 (GRCm39)	V80M	possibly damaging	Het
Mrpl44	G	T	1: 79,755,895 (GRCm39)	C167F	possibly damaging	Het
Muc5b	A	G	7: 141,410,079 (GRCm39)	M1218V	probably null	Het
Naa16	T	C	14: 79,620,780 (GRCm39)	I100V	possibly damaging	Het
Nup205	A	T	6: 35,220,778 (GRCm39)	Y1860F	possibly damaging	Het
Or10aa3	A	T	1: 173,878,533 (GRCm39)	Y198F	probably benign	Het
Or14c40	A	G	7: 86,313,819 (GRCm39)	I316M	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4c103	T	C	2: 88,513,977 (GRCm39)	Y33C	probably damaging	Het
Plcb3	A	G	19: 6,932,071 (GRCm39)		probably null	Het
Pnpla3	G	A	15: 84,065,132 (GRCm39)	A309T	probably benign	Het
Ripor2	T	C	13: 24,894,113 (GRCm39)	S714P	possibly damaging	Het
Robo4	C	T	9: 37,316,926 (GRCm39)	Q414*	probably null	Het
Shc2	A	G	10: 79,465,954 (GRCm39)	I161T	probably damaging	Het
Slc35b2	C	T	17: 45,877,302 (GRCm39)	T143I	probably benign	Het
Slc39a13	T	C	2: 90,898,880 (GRCm39)	D77G	probably damaging	Het
Snx6	A	C	12: 54,807,249 (GRCm39)	D243E	probably damaging	Het
Taar8b	A	G	10: 23,967,711 (GRCm39)	V161A	probably benign	Het
Tbr1	T	A	2: 61,635,159 (GRCm39)	D36E	possibly damaging	Het
Tdpoz2	T	C	3: 93,559,618 (GRCm39)	N118S	probably benign	Het
Tgfb1i1	T	C	7: 127,852,517 (GRCm39)	F478L	probably damaging	Het
Tmprss11f	T	C	5: 86,704,837 (GRCm39)	D27G	probably benign	Het
Trim30d	T	G	7: 104,137,202 (GRCm39)	M1L	probably damaging	Het
Trpm7	A	G	2: 126,679,301 (GRCm39)	V420A	probably damaging	Het
Ubap2	G	T	4: 41,206,981 (GRCm39)	P199H	probably benign	Het
Ubash3b	T	C	9: 40,926,212 (GRCm39)	T512A	probably damaging	Het
Zfp65	G	A	13: 67,858,437 (GRCm39)	P76S	probably benign	Het
Zic5	A	T	14: 122,696,748 (GRCm39)	H622Q	unknown	Het
Zpld1	A	T	16: 55,053,993 (GRCm39)	N266K	probably damaging	Het
Zswim1	A	G	2: 164,667,972 (GRCm39)		probably null	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
R5996:Ranbp10	UTSW	8	106,499,672 (GRCm39)	missense	probably benign	0.04
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'- TCCAGGTCTCTGTACCAGATGC -3'
(R):5'- TTTCCCATCATGAAAGCAGGCC -3'

Sequencing Primer
(F):5'- TCTGTACCAGATGCCTACGGAG -3'
(R):5'- CTGGTGGCTAGGACACTCAAAC -3'

Posted On

2017-10-10