Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01966:Ric1'

181530

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 essential (E-score: 0.528) question?

Stock #

IGL01966

Quality Score

Status

Chromosome

Chromosomal Location

29522282-29606829 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29595563 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 801 (Y801F)

Ref Sequence

ENSEMBL: ENSMUSP00000043437 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043610
AA Change: Y801F

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: Y801F

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

unknown
Transcript: ENSMUST00000160452
AA Change: Y12F

SMART Domains

Protein: ENSMUSP00000125299
Gene: ENSMUSG00000038658
AA Change: Y12F

Domain	Start	End	E-Value	Type
Pfam:RIC1	8	163	1.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161330

SMART Domains

Protein: ENSMUSP00000125709
Gene: ENSMUSG00000038658

Domain	Start	End	E-Value	Type
low complexity region	7	28	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161536

Predicted Effect

unknown
Transcript: ENSMUST00000162492
AA Change: Y692F

SMART Domains

Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: Y692F

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	A	G	4: 155,734,069		probably null	Het
Acer2	T	A	4: 86,917,578	*230R	probably null	Het
Adamts12	A	G	15: 11,258,183	K527E	probably damaging	Het
Anks1b	C	A	10: 90,895,132	R937S	probably damaging	Het
C2cd5	G	T	6: 143,012,041	C989*	probably null	Het
Col14a1	A	G	15: 55,448,725		probably benign	Het
Cramp1l	T	A	17: 24,982,943	T522S	probably benign	Het
Cyp2c70	A	T	19: 40,153,572		probably benign	Het
Elmod1	T	A	9: 53,921,327	I224F	probably benign	Het
Emx2	T	A	19: 59,459,589	I24N	possibly damaging	Het
Fam26e	T	C	10: 34,096,133	H102R	probably benign	Het
Fga	A	T	3: 83,029,154	I86F	probably damaging	Het
Fig4	C	A	10: 41,232,102		probably null	Het
Gm10234	T	C	6: 95,322,137		probably null	Het
Gm12588	A	T	11: 121,906,735	I96N	probably benign	Het
Grm3	A	G	5: 9,511,486	I788T	probably damaging	Het
Homer3	A	G	8: 70,290,157	K173E	probably damaging	Het
Kansl1l	A	G	1: 66,738,068	V635A	probably damaging	Het
Kctd3	C	T	1: 188,992,662	G241R	probably damaging	Het
Krt8	G	T	15: 101,997,670	S423R	probably benign	Het
Lrrc24	C	A	15: 76,718,311	A125S	probably benign	Het
Muc4	T	C	16: 32,751,426	S435P	possibly damaging	Het
Nfkb2	G	A	19: 46,309,690	G502D	probably benign	Het
Nlrp6	G	A	7: 140,925,190	C750Y	probably damaging	Het
Olfr904	A	T	9: 38,464,929	D296V	possibly damaging	Het
Oxsm	T	C	14: 16,242,520	N83S	probably benign	Het
Paqr3	A	G	5: 97,099,643	L202P	probably benign	Het
Pcdh10	T	A	3: 45,380,298	L349Q	probably benign	Het
Ptdss2	A	G	7: 141,135,391	T29A	possibly damaging	Het
Rbbp8nl	G	A	2: 180,280,989		probably benign	Het
Rc3h2	A	G	2: 37,382,777		probably benign	Het
Sgcz	A	T	8: 37,640,015	S114R	probably damaging	Het
Tenm4	A	G	7: 96,553,550	D124G	probably damaging	Het
Zscan22	T	G	7: 12,906,471	M214R	probably benign	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
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
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

2014-05-07