Mutagenetix > Incidental Mutations

Incidental Mutation 'R8477:Ric1'

657339

Institutional Source

Beutler Lab

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: 0.621) question?

Stock #

R8477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29522282-29606829 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29597783 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 959 (T959A)

Ref Sequence

ENSEMBL: ENSMUSP00000043437 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000043610
AA Change: T959A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: T959A

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

probably benign
Transcript: ENSMUST00000160452

SMART Domains

Protein: ENSMUSP00000125299
Gene: ENSMUSG00000038658

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

probably damaging
Transcript: ENSMUST00000162492
AA Change: T850A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: T850A

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 79,088,340	S94L	probably benign	Het
Ackr1	C	T	1: 173,332,188	G255R	probably damaging	Het
Aldh1l2	G	A	10: 83,501,921	T560I	probably damaging	Het
Arhgef25	A	T	10: 127,184,397	F384I	probably damaging	Het
Bptf	T	A	11: 107,052,853	Q2671L	probably damaging	Het
Ccdc159	A	G	9: 21,932,927	E95G	probably damaging	Het
Cenpf	A	T	1: 189,653,188	H2298Q	probably benign	Het
Chn2	G	T	6: 54,269,482		probably null	Het
Csnk1g1	T	C	9: 66,002,273	L224P	probably damaging	Het
Cyp2c54	T	A	19: 40,070,264	K241N	probably benign	Het
Cyp2c55	G	T	19: 39,011,041	V64L	probably damaging	Het
Dlgap1	A	C	17: 70,516,972	Q317H	probably damaging	Het
Dnaja3	A	G	16: 4,687,348	D108G	probably null	Het
Dpagt1	G	T	9: 44,332,093		probably null	Het
Dzip1	T	C	14: 118,901,546	R424G	possibly damaging	Het
E330014E10Rik	A	C	5: 95,801,708	M105L	probably benign	Het
Ero1lb	A	G	13: 12,601,783	K367R	probably benign	Het
Evi2	T	C	11: 79,516,065	Y228C	probably benign	Het
Exosc10	A	T	4: 148,565,390	I426L	possibly damaging	Het
Fam208b	A	G	13: 3,575,079	F1624L	probably benign	Het
Gba2	C	T	4: 43,569,944	R423Q	probably damaging	Het
Gm19965	A	C	1: 116,803,124		probably benign	Het
Gm4070	T	C	7: 105,898,926	K1640E	possibly damaging	Het
Gpr165	C	A	X: 96,714,017	D7E	probably benign	Het
Hc	A	T	2: 34,989,170	C1557S	probably damaging	Het
Hfm1	C	T	5: 106,881,818	S799N	probably benign	Het
Hibadh	A	T	6: 52,640,200	W17R	probably benign	Het
Hivep1	A	T	13: 42,184,220	T2592S	probably benign	Het
Ighv8-5	G	A	12: 115,067,580	T113I	probably benign	Het
Il2rb	A	T	15: 78,485,806	V211D	probably damaging	Het
Itgal	A	G	7: 127,300,933	Y121C	probably damaging	Het
Kirrel	T	C	3: 87,084,831	T597A	possibly damaging	Het
Lats1	A	G	10: 7,705,515	E688G	probably damaging	Het
Lbr	C	T	1: 181,816,974	A589T	possibly damaging	Het
Limch1	G	A	5: 66,974,565	V133I	probably benign	Het
Mast2	C	T	4: 116,307,210	A1670T	probably benign	Het
Mtcl1	A	T	17: 66,377,947	L949Q	probably benign	Het
Nlrp4a	T	C	7: 26,459,794	V833A	probably benign	Het
Olfr358	T	C	2: 37,005,048	T189A	probably benign	Het
Olfr945	A	T	9: 39,257,803	Y290N	probably damaging	Het
Osgep	C	A	14: 50,917,877	A75S	probably damaging	Het
Pank1	C	A	19: 34,878,655	R141L	probably benign	Het
Pcdhb20	T	A	18: 37,505,254	S278T	probably benign	Het
Pcdhgb8	C	A	18: 37,763,312	F478L	probably benign	Het
Peg10	C	CTCT	6: 4,756,453		probably benign	Het
Polr2a	G	A	11: 69,735,486	P1613S	probably benign	Het
Prom2	A	C	2: 127,539,204	S251A	probably benign	Het
R3hdm2	A	G	10: 127,484,160	H546R	probably damaging	Het
Reck	G	T	4: 43,891,011	V50L	probably benign	Het
Rerg	T	C	6: 137,056,186	T164A	probably benign	Het
Rho	T	A	6: 115,935,385		probably null	Het
Slc28a3	T	A	13: 58,576,795	N215I	possibly damaging	Het
Slc2a5	G	A	4: 150,125,662	V35I	probably benign	Het
Srpk2	A	T	5: 23,513,988	S610T	probably benign	Het
Tmem147	T	A	7: 30,728,231	M86L	probably benign	Het
Trhde	A	G	10: 114,800,717	V195A	probably benign	Het
Trio	T	C	15: 27,773,952	S112G	possibly damaging	Het
U2af2	T	C	7: 5,075,694	V424A	probably benign	Het
Vmn2r27	T	C	6: 124,224,241	I252M	probably benign	Het
Wasf2	A	G	4: 133,185,101	E88G	unknown	Het
Zfp37	A	G	4: 62,192,003	C275R	probably damaging	Het
Zfp532	A	T	18: 65,624,066	I357F	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
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
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
X0064:Ric1	UTSW	19	29587802	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGATCTAAGCAAGCAGAGC -3'
(R):5'- TCAAAGATGCTCTGTGGGTG -3'

Sequencing Primer
(F):5'- GCATATCTGGAACTTTCAAATGCTCC -3'
(R):5'- GTGTATGCCCTACAAAAGCTG -3'

Posted On

2021-01-18