Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02699:Ric1'

304078

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

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

IGL02699

Quality Score

Status

Chromosome

Chromosomal Location

29522282-29606829 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29522557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 12 (L12P)

Ref Sequence

ENSEMBL: ENSMUSP00000124788 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043610
AA Change: L12P

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: L12P

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

possibly damaging
Transcript: ENSMUST00000162184
AA Change: L12P

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181726

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,322,019	D198G	probably benign	Het
Casq1	T	C	1: 172,219,696		probably benign	Het
Cd109	T	A	9: 78,671,989		probably benign	Het
Col15a1	T	G	4: 47,284,471		probably benign	Het
Ctdp1	T	C	18: 80,450,185	D365G	probably benign	Het
Daam1	T	C	12: 71,988,943	F971L	probably damaging	Het
Dalrd3	T	A	9: 108,570,889		probably benign	Het
Dnaaf5	T	C	5: 139,153,350		probably benign	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fbxo8	A	G	8: 56,590,188	T236A	possibly damaging	Het
Ighv1-12	C	A	12: 114,616,116	E29*	probably null	Het
Il17re	A	G	6: 113,468,919	D397G	probably damaging	Het
Ing5	A	G	1: 93,816,442	N157D	possibly damaging	Het
Ipo11	T	C	13: 106,889,397	E395G	possibly damaging	Het
Letm1	T	C	5: 33,745,148	E599G	possibly damaging	Het
Mansc1	T	C	6: 134,610,354	T287A	probably benign	Het
Med1	T	C	11: 98,180,025	N131D	possibly damaging	Het
Olfr1085	A	T	2: 86,658,347	I37N	probably benign	Het
Olfr1337	G	T	4: 118,782,152	C144*	probably null	Het
Olfr1341	T	C	4: 118,710,198	S264P	probably benign	Het
Olfr769	T	G	10: 129,111,771	Y218S	probably benign	Het
Osm	T	C	11: 4,239,723	V169A	possibly damaging	Het
Phkg2	C	T	7: 127,582,550	A278V	probably benign	Het
Plod2	T	A	9: 92,607,142	M709K	probably damaging	Het
Pzp	A	T	6: 128,487,401		probably null	Het
Skor1	C	A	9: 63,140,046		probably benign	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Syncrip	A	G	9: 88,456,554		probably benign	Het
Tex2	T	C	11: 106,568,433	E57G	possibly damaging	Het
Tmc1	C	T	19: 20,832,350		probably null	Het
Tmem59	T	C	4: 107,192,538	M140T	probably benign	Het
Ttn	T	C	2: 76,944,089	T2158A	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
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
R7941:Ric1	UTSW	19	29533259	missense	probably damaging	1.00
R8115:Ric1	UTSW	19	29586573	missense	probably damaging	1.00
R8117:Ric1	UTSW	19	29574791	missense	probably benign	0.08
R8477:Ric1	UTSW	19	29597783	missense	probably damaging	1.00
R9023:Ric1	UTSW	19	29570743	splice site	probably benign
R9044:Ric1	UTSW	19	29599894	missense	probably damaging	1.00
R9727:Ric1	UTSW	19	29597858	missense	probably damaging	1.00
R9733:Ric1	UTSW	19	29602630	missense	possibly damaging	0.94
X0064:Ric1	UTSW	19	29587802	missense	probably damaging	1.00

Posted On

2015-04-16