Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02590:Ric1'

299722

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: 0.481) question?

Stock #

IGL02590

Quality Score

Status

Chromosome

Chromosomal Location

29522282-29606829 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 29567481 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043610

SMART Domains

Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658

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

probably benign
Transcript: ENSMUST00000162492

SMART Domains

Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,457,834	F118S	probably damaging	Het
Adam5	T	G	8: 24,744,135		probably benign	Het
Bok	T	C	1: 93,686,675		probably benign	Het
C1s1	C	T	6: 124,531,276	V585I	possibly damaging	Het
Chd2	C	T	7: 73,453,200	V1346I	probably benign	Het
Cyb5a	A	T	18: 84,871,607	T54S	probably benign	Het
Dnah7b	A	T	1: 46,123,777	T428S	probably benign	Het
Efhc1	T	C	1: 20,967,384	Y262H	probably damaging	Het
Fyb2	A	T	4: 104,979,053	I404F	probably damaging	Het
Glra2	T	C	X: 165,254,226	N237S	probably benign	Het
Gypc	A	G	18: 32,530,007	*96R	probably null	Het
Il15	T	C	8: 82,343,283	I51V	probably benign	Het
Itgb2	T	C	10: 77,559,513	C483R	probably damaging	Het
Kdr	C	T	5: 75,936,323	D1272N	probably benign	Het
Kif14	C	A	1: 136,496,004	T969K	probably benign	Het
Klhl42	T	C	6: 147,092,312	S261P	probably damaging	Het
Lrp1	C	A	10: 127,552,791	G3263V	probably damaging	Het
Mid1	A	G	X: 169,927,023	E5G	probably damaging	Het
Mmrn2	T	A	14: 34,399,267	L698*	probably null	Het
Myh14	T	G	7: 44,624,079	Q1393P	probably damaging	Het
Ncoa7	C	T	10: 30,694,163	E267K	probably damaging	Het
Obox5	T	C	7: 15,757,592	I19T	possibly damaging	Het
Olfr1054	A	G	2: 86,333,000	S119P	possibly damaging	Het
Olfr53	A	G	7: 140,652,392		probably null	Het
Pcnx	A	G	12: 81,994,978	Y2128C	probably damaging	Het
Plcb1	A	G	2: 135,294,864	D293G	probably benign	Het
Prpf4b	T	C	13: 34,888,146		probably benign	Het
Psapl1	A	T	5: 36,205,053	T330S	probably benign	Het
Rap1gap	A	G	4: 137,720,300	T453A	probably damaging	Het
Robo1	A	G	16: 73,043,132	E1590G	probably benign	Het
Sorl1	C	T	9: 42,046,561	V596I	probably benign	Het
Tlr12	A	G	4: 128,617,389	I356T	probably benign	Het
Trav8d-2	T	C	14: 53,042,449	S8P	possibly damaging	Het
Tyms	C	A	5: 30,064,151	V75L	probably benign	Het
Vmn1r230	T	A	17: 20,846,910	S120R	probably damaging	Het
Vmn2r84	T	A	10: 130,391,487		probably benign	Het
Wdr27	C	T	17: 14,917,779	A388T	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
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
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
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

Posted On

2015-04-16