Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03026:Ric1'

408184

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: 0.623) question?

Stock #

IGL03026

Quality Score

Status

Chromosome

Chromosomal Location

29522282-29606829 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29599833 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 1046 (W1046G)

Ref Sequence

ENSEMBL: ENSMUSP00000043437 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043610
AA Change: W1046G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: W1046G

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: M158R

SMART Domains

Protein: ENSMUSP00000125299
Gene: ENSMUSG00000038658
AA Change: M158R

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

Predicted Effect

unknown
Transcript: ENSMUST00000161330
AA Change: W67G

SMART Domains

Protein: ENSMUSP00000125709
Gene: ENSMUSG00000038658
AA Change: W67G

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: W937G

SMART Domains

Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: W937G

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,519,690	V154A	possibly damaging	Het
Adcy4	T	C	14: 55,778,010	Y481C	probably damaging	Het
Adcy5	T	C	16: 35,157,042	V315A	probably benign	Het
Atf7ip	G	A	6: 136,605,382	S1130N	possibly damaging	Het
Ctss	A	G	3: 95,538,830	D87G	probably benign	Het
Cwf19l2	A	T	9: 3,428,777	K254N	probably benign	Het
Dnajc10	A	G	2: 80,349,303	D727G	probably damaging	Het
Dsg3	G	A	18: 20,536,972		probably null	Het
Ehmt1	T	C	2: 24,852,734	M478V	probably benign	Het
Enam	A	T	5: 88,503,299	N889I	probably benign	Het
Exo1	G	T	1: 175,908,437	*148L	probably null	Het
Fam133b	G	T	5: 3,559,646		probably benign	Het
Foxj2	G	A	6: 122,838,180	A392T	probably benign	Het
Gbp4	G	T	5: 105,120,000	A460E	possibly damaging	Het
Has3	A	T	8: 106,878,610	I483F	probably benign	Het
Hist1h1b	G	A	13: 21,779,947		probably benign	Het
Irak2	T	A	6: 113,676,651	V260E	probably damaging	Het
Kcnj8	T	C	6: 142,566,473		probably null	Het
Lama5	A	G	2: 180,195,967	V936A	probably benign	Het
Lmo7	C	T	14: 101,929,333		probably benign	Het
Morc3	T	A	16: 93,862,724		probably benign	Het
Muc6	T	C	7: 141,640,147		probably benign	Het
Nkx2-2	T	C	2: 147,185,822	Y66C	probably damaging	Het
Oaz1	G	A	10: 80,828,800		probably benign	Het
Olfr1392	A	T	11: 49,293,458	I46F	probably damaging	Het
Olfr768	G	A	10: 129,093,188	A262V	possibly damaging	Het
Olfr808	A	T	10: 129,768,041	M182L	probably benign	Het
Pkd2	A	T	5: 104,494,887		probably benign	Het
Plcb4	A	G	2: 135,950,429		probably benign	Het
Ralgapa2	C	A	2: 146,460,775		probably benign	Het
Rfx7	T	C	9: 72,619,685	S1386P	probably damaging	Het
Rrp12	C	A	19: 41,872,997	R957L	probably damaging	Het
Scn7a	T	C	2: 66,676,098	I1482M	probably damaging	Het
Sema3b	T	C	9: 107,602,063	N236S	probably damaging	Het
Skint6	T	A	4: 112,991,244		probably null	Het
Slfn5	T	C	11: 82,956,561	Y91H	probably benign	Het
Sptbn2	T	A	19: 4,724,233		probably null	Het
Szt2	A	G	4: 118,391,849	L546P	probably benign	Het
Tas1r3	A	G	4: 155,861,843		probably benign	Het
Trim75	A	G	8: 64,983,786	V4A	probably benign	Het
Usp19	T	C	9: 108,493,145	L56P	probably damaging	Het
Vmn1r181	T	G	7: 23,984,575	I155S	possibly damaging	Het
Vmn2r43	G	T	7: 8,255,097	D372E	probably benign	Het
Vstm2b	C	A	7: 40,902,521	S99*	probably null	Het
Wdr11	A	G	7: 129,624,336	D735G	probably damaging	Het
Wee2	T	A	6: 40,461,981	M346K	probably benign	Het
Zap70	A	G	1: 36,779,717	K371R	possibly damaging	Het
Zfp990	A	T	4: 145,537,110	H226L	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
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
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

2016-08-02