Mutagenetix > Incidental Mutations

Incidental Mutation 'R1493:Ric1'

165590

Institutional Source

Beutler Lab

Gene Symbol

Ric1

Ensembl Gene

ENSMUSG00000038658

Gene Name

RAB6A GEF complex partner 1

Synonyms

C030046E11Rik, C130057E09Rik

MMRRC Submission

039544-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.481) question?

Stock #

R1493 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29522282-29606829 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29579849 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 445 (Y445H)

Ref Sequence

ENSEMBL: ENSMUSP00000043437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043610]

Predicted Effect

probably benign
Transcript: ENSMUST00000043610
AA Change: Y445H

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

SMART Domains

Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: Y445H

Domain	Start	End	E-Value	Type
Blast:WD40	242	278	5e-7	BLAST
SCOP:d1gxra_	254	379	2e-4	SMART
Blast:WD40	285	334	3e-6	BLAST
Blast:WD40	482	520	5e-6	BLAST
low complexity region	642	653	N/A	INTRINSIC
Pfam:RIC1	732	991	1.9e-86	PFAM
low complexity region	1120	1132	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160221

Predicted Effect

unknown
Transcript: ENSMUST00000162492
AA Change: Y373H

SMART Domains

Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: Y373H

Domain	Start	End	E-Value	Type
Blast:WD40	171	207	4e-7	BLAST
SCOP:d1gxra_	183	308	2e-4	SMART
Blast:WD40	214	263	2e-6	BLAST
low complexity region	534	545	N/A	INTRINSIC
Pfam:RIC1	624	883	1.6e-86	PFAM
low complexity region	1012	1024	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,876,718	S14P	probably damaging	Het
Abca15	A	T	7: 120,382,290	D989V	probably benign	Het
Abcg8	T	C	17: 84,696,679	S472P	probably damaging	Het
Ablim2	T	C	5: 35,809,261	F178S	probably damaging	Het
Adprm	A	G	11: 67,041,876	V69A	possibly damaging	Het
Ankrd27	C	T	7: 35,608,365	S343L	probably benign	Het
Arfgef3	A	G	10: 18,630,879	S833P	probably damaging	Het
Arhgap42	T	G	9: 9,030,797	E339D	probably benign	Het
Axdnd1	T	A	1: 156,346,701	M799L	probably benign	Het
Cars2	A	T	8: 11,517,817		probably null	Het
Cd7	T	C	11: 121,038,141	T95A	probably damaging	Het
Cep290	A	T	10: 100,562,181	T2200S	probably benign	Het
Cep44	A	G	8: 56,532,835	S299P	probably damaging	Het
Cfap58	C	T	19: 47,988,504	H731Y	probably damaging	Het
Ehbp1	T	A	11: 22,006,866	E1204V	probably damaging	Het
Fam129a	T	A	1: 151,706,090	V479D	probably damaging	Het
Fam208a	A	G	14: 27,449,969	S425G	probably damaging	Het
Fgd5	A	G	6: 91,987,631	K124E	probably benign	Het
Folh1	T	C	7: 86,761,730	D268G	probably damaging	Het
Gm4559	A	T	7: 142,274,313	C17*	probably null	Het
Gm9833	A	G	3: 10,088,884	K238E	probably damaging	Het
Helz	A	G	11: 107,613,925	I413V	probably benign	Het
Hexdc	A	G	11: 121,221,267	I438V	probably benign	Het
Hrh1	G	A	6: 114,480,877	G373D	probably damaging	Het
Hs3st5	G	A	10: 36,832,874	G135D	probably damaging	Het
Iqcf6	T	C	9: 106,627,442	Y102H	probably benign	Het
Kmt2a	A	T	9: 44,846,905	S1124R	probably damaging	Het
Map3k5	A	G	10: 20,029,113	D387G	probably damaging	Het
Morc2a	A	G	11: 3,678,557	N337D	probably benign	Het
Musk	C	T	4: 58,354,003	A352V	probably benign	Het
Nans	G	A	4: 46,500,761	E218K	probably damaging	Het
Ninl	T	G	2: 150,980,095	D29A	probably damaging	Het
Nod1	A	G	6: 54,944,056	F426L	probably damaging	Het
Notch4	T	A	17: 34,567,682	C265*	probably null	Het
Nsd3	A	G	8: 25,713,380	D1307G	probably benign	Het
Olfr555	T	C	7: 102,659,013	L64P	probably damaging	Het
Olfr670	T	A	7: 104,960,502	T77S	probably damaging	Het
Orai3	G	A	7: 127,773,905	V193M	possibly damaging	Het
Prkag1	T	C	15: 98,813,670	Y271C	probably benign	Het
Rfc4	T	C	16: 23,118,008	I116V	probably damaging	Het
Rnmt	G	A	18: 68,313,707	D268N	probably damaging	Het
Rsph1	C	T	17: 31,265,899	G139D	probably damaging	Het
Sez6l2	C	A	7: 126,961,812	P483Q	probably damaging	Het
Sgo2b	A	G	8: 63,926,855	L981P	probably damaging	Het
Shmt2	A	G	10: 127,518,943		probably null	Het
Sorbs3	T	C	14: 70,192,627	T353A	possibly damaging	Het
Stk25	T	C	1: 93,625,600	T260A	probably benign	Het
Thap12	A	G	7: 98,715,438	H271R	probably benign	Het
Tmprss13	A	G	9: 45,336,107	T256A	probably benign	Het
Tpo	A	T	12: 30,131,809	I29N	possibly damaging	Het
Trpc2	A	T	7: 102,090,576	N569I	probably damaging	Het
Unc13c	T	C	9: 73,639,068	T1607A	probably benign	Het
Vldlr	A	G	19: 27,241,291	N514S	probably benign	Het
Vps18	A	G	2: 119,297,132	Y812C	probably damaging	Het
Zfp692	A	T	11: 58,314,040	I409F	probably damaging	Het
Zfp735	G	A	11: 73,710,479	C83Y	possibly damaging	Het
Zic1	A	G	9: 91,364,756	S88P	probably damaging	Het

Other mutations in Ric1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Ric1	APN	19	29595362	missense	probably damaging	1.00
IGL00902:Ric1	APN	19	29567231	missense	probably benign	0.05
IGL01405:Ric1	APN	19	29567370	splice site	probably benign
IGL01629:Ric1	APN	19	29603981	missense	probably benign	0.02
IGL01688:Ric1	APN	19	29577614	missense	probably benign	0.00
IGL01966:Ric1	APN	19	29595563	missense	probably benign	0.33
IGL02123:Ric1	APN	19	29594800	missense	probably benign
IGL02590:Ric1	APN	19	29567481	splice site	probably benign
IGL02655:Ric1	APN	19	29595451	missense	probably damaging	1.00
IGL02699:Ric1	APN	19	29522557	missense	possibly damaging	0.51
IGL02718:Ric1	APN	19	29533240	missense	probably damaging	1.00
IGL03026:Ric1	APN	19	29599833	missense	probably benign	0.02
IGL03142:Ric1	APN	19	29600980	missense	possibly damaging	0.89
R0109:Ric1	UTSW	19	29586677	synonymous	silent
R0336:Ric1	UTSW	19	29587793	missense	probably damaging	0.96
R0362:Ric1	UTSW	19	29601011	critical splice donor site	probably null
R0676:Ric1	UTSW	19	29577647	missense	probably benign
R0734:Ric1	UTSW	19	29594818	missense	possibly damaging	0.66
R1004:Ric1	UTSW	19	29602357	missense	probably benign	0.00
R1148:Ric1	UTSW	19	29579849	missense	probably benign
R1148:Ric1	UTSW	19	29579849	missense	probably benign
R1216:Ric1	UTSW	19	29577735	missense	probably benign	0.00
R1848:Ric1	UTSW	19	29600813	splice site	probably null
R1872:Ric1	UTSW	19	29602668	missense	probably benign	0.32
R1942:Ric1	UTSW	19	29601016	splice site	probably benign
R2143:Ric1	UTSW	19	29533252	missense	probably damaging	1.00
R2143:Ric1	UTSW	19	29533253	missense	probably damaging	0.96
R2679:Ric1	UTSW	19	29604030	missense	probably benign
R2878:Ric1	UTSW	19	29602330	missense	possibly damaging	0.77
R2970:Ric1	UTSW	19	29577718	missense	probably benign	0.15
R3420:Ric1	UTSW	19	29567590	missense	probably damaging	0.96
R3421:Ric1	UTSW	19	29567590	missense	probably damaging	0.96
R3940:Ric1	UTSW	19	29570762	missense	probably damaging	1.00
R4004:Ric1	UTSW	19	29579801	missense	probably benign	0.44
R4225:Ric1	UTSW	19	29602731	missense	possibly damaging	0.89
R4280:Ric1	UTSW	19	29586550	missense	probably damaging	1.00
R4283:Ric1	UTSW	19	29586550	missense	probably damaging	1.00
R4516:Ric1	UTSW	19	29570765	missense	probably benign	0.17
R4702:Ric1	UTSW	19	29598017	missense	possibly damaging	0.85
R4824:Ric1	UTSW	19	29585842	missense	probably damaging	1.00
R4835:Ric1	UTSW	19	29595536	missense	possibly damaging	0.80
R5860:Ric1	UTSW	19	29599845	missense	possibly damaging	0.91
R5883:Ric1	UTSW	19	29595989	missense	probably damaging	1.00
R5965:Ric1	UTSW	19	29570771	missense	probably damaging	0.99
R6141:Ric1	UTSW	19	29595442	missense	probably damaging	1.00
R6236:Ric1	UTSW	19	29595426	missense	possibly damaging	0.91
R6271:Ric1	UTSW	19	29567365	splice site	probably null
R6345:Ric1	UTSW	19	29604085	missense	probably benign	0.09
R6371:Ric1	UTSW	19	29562026	missense	probably benign	0.35
R6547:Ric1	UTSW	19	29594826	missense	probably damaging	1.00
R6924:Ric1	UTSW	19	29569388	missense	probably damaging	0.98
R6969:Ric1	UTSW	19	29585782	missense	probably damaging	1.00
R6970:Ric1	UTSW	19	29587772	missense	probably damaging	1.00
R6993:Ric1	UTSW	19	29586613	missense	probably damaging	1.00
R7296:Ric1	UTSW	19	29584578	critical splice donor site	probably null
R7434:Ric1	UTSW	19	29574780	missense	probably damaging	1.00
R7619:Ric1	UTSW	19	29579775	missense	probably benign	0.32
R7850:Ric1	UTSW	19	29594893	missense	probably benign
R7933:Ric1	UTSW	19	29594893	missense	probably benign
X0064:Ric1	UTSW	19	29587802	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGGTGGAAGGTACGGTTCAAAC -3'
(R):5'- TCTAATCAGGGAGTCAGCAGCAGTC -3'

Sequencing Primer
(F):5'- CGTTCAGTAATAAAACTAAGACGGC -3'
(R):5'- TCAGCAGCAGTCAGTAAATGAAC -3'

Posted On

2014-03-28