Mutagenetix > Incidental Mutation

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

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

IGL02590

Quality Score

Status

Chromosome

Chromosomal Location

29499637-29583909 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 29544881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

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: 144,184,404 (GRCm39)	F118S	probably damaging	Het
Adam5	T	G	8: 25,234,151 (GRCm39)		probably benign	Het
Bok	T	C	1: 93,614,397 (GRCm39)		probably benign	Het
C1s1	C	T	6: 124,508,235 (GRCm39)	V585I	possibly damaging	Het
Chd2	C	T	7: 73,102,948 (GRCm39)	V1346I	probably benign	Het
Cyb5a	A	T	18: 84,889,732 (GRCm39)	T54S	probably benign	Het
Dnah7b	A	T	1: 46,162,937 (GRCm39)	T428S	probably benign	Het
Efhc1	T	C	1: 21,037,608 (GRCm39)	Y262H	probably damaging	Het
Fyb2	A	T	4: 104,836,250 (GRCm39)	I404F	probably damaging	Het
Glra2	T	C	X: 164,037,222 (GRCm39)	N237S	probably benign	Het
Gypc	A	G	18: 32,663,060 (GRCm39)	*96R	probably null	Het
Il15	T	C	8: 83,069,912 (GRCm39)	I51V	probably benign	Het
Itgb2	T	C	10: 77,395,347 (GRCm39)	C483R	probably damaging	Het
Kdr	C	T	5: 76,096,983 (GRCm39)	D1272N	probably benign	Het
Kif14	C	A	1: 136,423,742 (GRCm39)	T969K	probably benign	Het
Klhl42	T	C	6: 146,993,810 (GRCm39)	S261P	probably damaging	Het
Lrp1	C	A	10: 127,388,660 (GRCm39)	G3263V	probably damaging	Het
Mid1	A	G	X: 168,710,019 (GRCm39)	E5G	probably damaging	Het
Mmrn2	T	A	14: 34,121,224 (GRCm39)	L698*	probably null	Het
Myh14	T	G	7: 44,273,503 (GRCm39)	Q1393P	probably damaging	Het
Ncoa7	C	T	10: 30,570,159 (GRCm39)	E267K	probably damaging	Het
Obox5	T	C	7: 15,491,517 (GRCm39)	I19T	possibly damaging	Het
Or13a20	A	G	7: 140,232,305 (GRCm39)		probably null	Het
Or8k22	A	G	2: 86,163,344 (GRCm39)	S119P	possibly damaging	Het
Pcnx1	A	G	12: 82,041,752 (GRCm39)	Y2128C	probably damaging	Het
Plcb1	A	G	2: 135,136,784 (GRCm39)	D293G	probably benign	Het
Prpf4b	T	C	13: 35,072,129 (GRCm39)		probably benign	Het
Psapl1	A	T	5: 36,362,397 (GRCm39)	T330S	probably benign	Het
Rap1gap	A	G	4: 137,447,611 (GRCm39)	T453A	probably damaging	Het
Robo1	A	G	16: 72,840,020 (GRCm39)	E1590G	probably benign	Het
Sorl1	C	T	9: 41,957,857 (GRCm39)	V596I	probably benign	Het
Tlr12	A	G	4: 128,511,182 (GRCm39)	I356T	probably benign	Het
Trav8d-2	T	C	14: 53,279,906 (GRCm39)	S8P	possibly damaging	Het
Tyms	C	A	5: 30,269,149 (GRCm39)	V75L	probably benign	Het
Vmn1r230	T	A	17: 21,067,172 (GRCm39)	S120R	probably damaging	Het
Vmn2r84	T	A	10: 130,227,356 (GRCm39)		probably benign	Het
Wdr27	C	T	17: 15,138,041 (GRCm39)	A388T	possibly damaging	Het

Other mutations in Ric1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Ric1	APN	19	29,572,762 (GRCm39)	missense	probably damaging	1.00
IGL00902:Ric1	APN	19	29,544,631 (GRCm39)	missense	probably benign	0.05
IGL01405:Ric1	APN	19	29,544,770 (GRCm39)	splice site	probably benign
IGL01629:Ric1	APN	19	29,581,381 (GRCm39)	missense	probably benign	0.02
IGL01688:Ric1	APN	19	29,555,014 (GRCm39)	missense	probably benign	0.00
IGL01966:Ric1	APN	19	29,572,963 (GRCm39)	missense	probably benign	0.33
IGL02123:Ric1	APN	19	29,572,200 (GRCm39)	missense	probably benign
IGL02655:Ric1	APN	19	29,572,851 (GRCm39)	missense	probably damaging	1.00
IGL02699:Ric1	APN	19	29,499,957 (GRCm39)	missense	possibly damaging	0.51
IGL02718:Ric1	APN	19	29,510,640 (GRCm39)	missense	probably damaging	1.00
IGL03026:Ric1	APN	19	29,577,233 (GRCm39)	missense	probably benign	0.02
IGL03142:Ric1	APN	19	29,578,380 (GRCm39)	missense	possibly damaging	0.89
R0109:Ric1	UTSW	19	29,564,077 (GRCm39)	synonymous	silent
R0336:Ric1	UTSW	19	29,565,193 (GRCm39)	missense	probably damaging	0.96
R0362:Ric1	UTSW	19	29,578,411 (GRCm39)	critical splice donor site	probably null
R0676:Ric1	UTSW	19	29,555,047 (GRCm39)	missense	probably benign
R0734:Ric1	UTSW	19	29,572,218 (GRCm39)	missense	possibly damaging	0.66
R1004:Ric1	UTSW	19	29,579,757 (GRCm39)	missense	probably benign	0.00
R1148:Ric1	UTSW	19	29,557,249 (GRCm39)	missense	probably benign
R1148:Ric1	UTSW	19	29,557,249 (GRCm39)	missense	probably benign
R1216:Ric1	UTSW	19	29,555,135 (GRCm39)	missense	probably benign	0.00
R1493:Ric1	UTSW	19	29,557,249 (GRCm39)	missense	probably benign
R1848:Ric1	UTSW	19	29,578,213 (GRCm39)	splice site	probably null
R1872:Ric1	UTSW	19	29,580,068 (GRCm39)	missense	probably benign	0.32
R1942:Ric1	UTSW	19	29,578,416 (GRCm39)	splice site	probably benign
R2143:Ric1	UTSW	19	29,510,653 (GRCm39)	missense	probably damaging	0.96
R2143:Ric1	UTSW	19	29,510,652 (GRCm39)	missense	probably damaging	1.00
R2679:Ric1	UTSW	19	29,581,430 (GRCm39)	missense	probably benign
R2878:Ric1	UTSW	19	29,579,730 (GRCm39)	missense	possibly damaging	0.77
R2970:Ric1	UTSW	19	29,555,118 (GRCm39)	missense	probably benign	0.15
R3420:Ric1	UTSW	19	29,544,990 (GRCm39)	missense	probably damaging	0.96
R3421:Ric1	UTSW	19	29,544,990 (GRCm39)	missense	probably damaging	0.96
R3940:Ric1	UTSW	19	29,548,162 (GRCm39)	missense	probably damaging	1.00
R4004:Ric1	UTSW	19	29,557,201 (GRCm39)	missense	probably benign	0.44
R4225:Ric1	UTSW	19	29,580,131 (GRCm39)	missense	possibly damaging	0.89
R4280:Ric1	UTSW	19	29,563,950 (GRCm39)	missense	probably damaging	1.00
R4283:Ric1	UTSW	19	29,563,950 (GRCm39)	missense	probably damaging	1.00
R4516:Ric1	UTSW	19	29,548,165 (GRCm39)	missense	probably benign	0.17
R4702:Ric1	UTSW	19	29,575,417 (GRCm39)	missense	possibly damaging	0.85
R4824:Ric1	UTSW	19	29,563,242 (GRCm39)	missense	probably damaging	1.00
R4835:Ric1	UTSW	19	29,572,936 (GRCm39)	missense	possibly damaging	0.80
R5860:Ric1	UTSW	19	29,577,245 (GRCm39)	missense	possibly damaging	0.91
R5883:Ric1	UTSW	19	29,573,389 (GRCm39)	missense	probably damaging	1.00
R5965:Ric1	UTSW	19	29,548,171 (GRCm39)	missense	probably damaging	0.99
R6141:Ric1	UTSW	19	29,572,842 (GRCm39)	missense	probably damaging	1.00
R6236:Ric1	UTSW	19	29,572,826 (GRCm39)	missense	possibly damaging	0.91
R6271:Ric1	UTSW	19	29,544,765 (GRCm39)	splice site	probably null
R6345:Ric1	UTSW	19	29,581,485 (GRCm39)	missense	probably benign	0.09
R6371:Ric1	UTSW	19	29,539,426 (GRCm39)	missense	probably benign	0.35
R6547:Ric1	UTSW	19	29,572,226 (GRCm39)	missense	probably damaging	1.00
R6924:Ric1	UTSW	19	29,546,788 (GRCm39)	missense	probably damaging	0.98
R6969:Ric1	UTSW	19	29,563,182 (GRCm39)	missense	probably damaging	1.00
R6970:Ric1	UTSW	19	29,565,172 (GRCm39)	missense	probably damaging	1.00
R6993:Ric1	UTSW	19	29,564,013 (GRCm39)	missense	probably damaging	1.00
R7296:Ric1	UTSW	19	29,561,978 (GRCm39)	critical splice donor site	probably null
R7434:Ric1	UTSW	19	29,552,180 (GRCm39)	missense	probably damaging	1.00
R7619:Ric1	UTSW	19	29,557,175 (GRCm39)	missense	probably benign	0.32
R7850:Ric1	UTSW	19	29,572,293 (GRCm39)	missense	probably benign
R7941:Ric1	UTSW	19	29,510,659 (GRCm39)	missense	probably damaging	1.00
R8115:Ric1	UTSW	19	29,563,973 (GRCm39)	missense	probably damaging	1.00
R8117:Ric1	UTSW	19	29,552,191 (GRCm39)	missense	probably benign	0.08
R8477:Ric1	UTSW	19	29,575,183 (GRCm39)	missense	probably damaging	1.00
R9023:Ric1	UTSW	19	29,548,143 (GRCm39)	splice site	probably benign
R9044:Ric1	UTSW	19	29,577,294 (GRCm39)	missense	probably damaging	1.00
R9727:Ric1	UTSW	19	29,575,258 (GRCm39)	missense	probably damaging	1.00
R9733:Ric1	UTSW	19	29,580,030 (GRCm39)	missense	possibly damaging	0.94
X0064:Ric1	UTSW	19	29,565,202 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16