Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00902:Ric1'

29489

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ric1

Ensembl Gene

ENSMUSG00000038658

Gene Name

RAB6A GEF complex partner 1

Synonyms

C030046E11Rik, C130057E09Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.446) question?

Stock #

IGL00902

Quality Score

Status

Chromosome

Chromosomal Location

29522282-29606829 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29567231 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 151 (V151A)

Ref Sequence

ENSEMBL: ENSMUSP00000043437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043610] [ENSMUST00000162184]

Predicted Effect

probably benign
Transcript: ENSMUST00000043610
AA Change: V151A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: V151A

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

probably benign
Transcript: ENSMUST00000162184

Predicted Effect

unknown
Transcript: ENSMUST00000162492
AA Change: V79A

SMART Domains

Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: V79A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 37,041,345	G1001D	probably damaging	Het
Adamts7	T	G	9: 90,188,794		probably null	Het
Akap11	A	G	14: 78,495,838	S1876P	probably benign	Het
Capn10	A	G	1: 92,942,559	I256V	probably benign	Het
Catsperg2	T	A	7: 29,701,143	H262L	possibly damaging	Het
Col22a1	C	A	15: 71,964,659	G509V	probably damaging	Het
Dab2ip	T	C	2: 35,717,112	F523S	probably damaging	Het
Dbnl	G	T	11: 5,798,105	A313S	probably benign	Het
Ddo	T	C	10: 40,647,554	V180A	probably damaging	Het
Enox1	A	G	14: 77,582,404	M200V	possibly damaging	Het
Fabp6	G	A	11: 43,598,716	R33C	probably damaging	Het
Gm9104	T	C	17: 45,466,014		probably benign	Het
Gspt1	C	T	16: 11,232,579	V303I	probably damaging	Het
Igf2r	C	T	17: 12,700,358	C1469Y	probably damaging	Het
Igflr1	T	C	7: 30,567,275	S183P	possibly damaging	Het
Itga6	T	C	2: 71,849,394	V1001A	probably benign	Het
Itih1	G	A	14: 30,932,482		probably benign	Het
Krt86	C	T	15: 101,473,860	H104Y	probably benign	Het
Lrp5	T	C	19: 3,600,774	N1220S	probably damaging	Het
March6	A	G	15: 31,484,978	Y434H	probably damaging	Het
Mbd1	A	G	18: 74,275,239	Y211C	possibly damaging	Het
Mpeg1	C	A	19: 12,461,769	A197D	probably damaging	Het
Mroh2b	T	A	15: 4,915,222	L435Q	probably damaging	Het
Mss51	A	C	14: 20,486,167	M160R	probably damaging	Het
Ndufs7	T	G	10: 80,256,005	Y190*	probably null	Het
Olfr1015	T	C	2: 85,786,117	M202T	probably benign	Het
Olfr768	T	A	10: 129,093,396	I193L	probably benign	Het
Pcdh17	A	G	14: 84,446,849	E252G	probably damaging	Het
Sgo2a	A	G	1: 58,016,099	T481A	probably benign	Het
Slc5a8	A	G	10: 88,919,461	T477A	probably benign	Het
Smg5	G	A	3: 88,353,085	V661I	probably benign	Het
Snx19	A	T	9: 30,428,732	I389F	possibly damaging	Het
Spem1	A	T	11: 69,821,817	I64N	probably damaging	Het
Ssfa2	G	A	2: 79,660,478	R980Q	probably damaging	Het
Thada	A	T	17: 84,447,976	M262K	probably damaging	Het
Uox	A	G	3: 146,610,406	D32G	possibly damaging	Het
Usp42	A	T	5: 143,719,874		probably benign	Het
Usp43	G	A	11: 67,891,419	P391L	probably benign	Het
Vmn2r56	T	C	7: 12,715,499	S271G	probably benign	Het
Wdr64	T	A	1: 175,728,825	C213S	probably damaging	Het
Zfp26	A	T	9: 20,439,548	S194T	possibly 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
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
R1493:Ric1	UTSW	19	29579849	missense	probably benign
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
X0064:Ric1	UTSW	19	29587802	missense	probably damaging	1.00

Posted On

2013-04-17