Mutagenetix > Incidental Mutations

Incidental Mutation 'R5965:Ric1'

472065

Institutional Source

Beutler Lab

Gene Symbol

Ric1

Ensembl Gene

ENSMUSG00000038658

Gene Name

RAB6A GEF complex partner 1

Synonyms

C030046E11Rik, C130057E09Rik

MMRRC Submission

044150-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.528) question?

Stock #

R5965 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29522282-29606829 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29570771 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 280 (D280N)

Ref Sequence

ENSEMBL: ENSMUSP00000043437 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000043610
AA Change: D280N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043437
Gene: ENSMUSG00000038658
AA Change: D280N

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

unknown
Transcript: ENSMUST00000162492
AA Change: D208N

SMART Domains

Protein: ENSMUSP00000124727
Gene: ENSMUSG00000038658
AA Change: D208N

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

Meta Mutation Damage Score

0.4367

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	A	5: 30,205,639	T23S	probably benign	Het
Armc2	A	G	10: 41,922,572	I747T	possibly damaging	Het
Cacna1c	T	A	6: 118,602,300	H1729L	probably damaging	Het
Crebbp	A	G	16: 4,087,661		probably benign	Het
Cyp4f17	T	A	17: 32,524,637	M326K	probably damaging	Het
D230025D16Rik	T	C	8: 105,234,539	F69L	probably damaging	Het
Dchs1	T	G	7: 105,755,925	D2470A	probably damaging	Het
Ddhd2	T	C	8: 25,735,777	T518A	probably damaging	Het
Derl2	T	C	11: 71,014,552	T109A	probably benign	Het
Dnah7b	T	C	1: 46,362,987	L3994P	probably damaging	Het
Dock10	T	C	1: 80,568,744		probably null	Het
Dync1h1	T	A	12: 110,632,778	S1856T	probably benign	Het
Ehd2	T	C	7: 15,952,074	K358E	possibly damaging	Het
Enpp2	A	G	15: 54,882,971		probably null	Het
Esco1	T	C	18: 10,593,867	E473G	possibly damaging	Het
Exoc5	A	G	14: 49,034,931	F342S	probably damaging	Het
Fam186a	T	A	15: 99,945,097	T1089S	probably benign	Het
Fam71d	T	A	12: 78,710,306	N12K	unknown	Het
Fanca	T	C	8: 123,316,410	D79G	possibly damaging	Het
Gabrb2	A	G	11: 42,626,869	Y506C	probably damaging	Het
Galntl6	T	C	8: 57,857,531	T379A	probably benign	Het
Gm34768	A	G	2: 11,908,505		noncoding transcript	Het
Gps2	A	G	11: 69,914,794	E46G	possibly damaging	Het
Gsdmc	T	C	15: 63,804,598		probably null	Het
Gys1	C	T	7: 45,455,339	T666I	probably benign	Het
Hsd17b11	T	A	5: 104,021,785		probably benign	Het
Iffo1	T	A	6: 125,152,508		probably benign	Het
Ighv1-51	T	C	12: 115,131,557		noncoding transcript	Het
Kansl3	T	A	1: 36,345,520		probably null	Het
Kdm3a	A	G	6: 71,621,380	I174T	probably benign	Het
Klhl26	A	T	8: 70,452,731	D95E	probably damaging	Het
Lair1	T	C	7: 4,029,024	D28G	possibly damaging	Het
Lama3	A	G	18: 12,429,887	D489G	possibly damaging	Het
Lamb3	A	T	1: 193,343,460	I1153F	probably damaging	Het
Lsp1	T	A	7: 142,490,424		probably null	Het
Man1a	A	G	10: 53,933,490		probably benign	Het
Mcam	A	C	9: 44,136,628	S57R	probably damaging	Het
Mrgprf	C	A	7: 145,307,431		probably benign	Het
Nfia	T	C	4: 98,111,292	*499Q	probably null	Het
Nmbr	C	A	10: 14,766,810	R38S	probably benign	Het
Olfr1126	T	G	2: 87,458,037	F291V	probably benign	Het
Olfr191	T	C	16: 59,086,303	Y60C	probably damaging	Het
Olfr559	C	A	7: 102,724,260	V77L	probably benign	Het
P3h1	C	T	4: 119,248,227	H741Y	probably benign	Het
Parp4	A	T	14: 56,624,032	M941L	probably benign	Het
Pik3c3	C	T	18: 30,298,580	T331M	probably damaging	Het
Prkg1	T	C	19: 30,724,156		probably null	Het
Qsox2	A	T	2: 26,222,221	V103D	probably benign	Het
Ranbp1	T	C	16: 18,245,228	T95A	probably damaging	Het
Scd1	A	G	19: 44,400,140		probably null	Het
Serpinb3c	A	G	1: 107,276,923	I31T	probably benign	Het
Slc7a11	T	A	3: 50,379,144	Y386F	probably benign	Het
Smtnl2	A	T	11: 72,400,453		probably null	Het
Snx2	G	T	18: 53,194,462	E87*	probably null	Het
Tars2	A	C	3: 95,748,152		probably null	Het
Tax1bp1	C	A	6: 52,729,332	T106N	probably damaging	Het
Tcof1	A	G	18: 60,833,418		probably null	Het
Tenm3	C	A	8: 48,228,508	E2680*	probably null	Het
Thap7	C	T	16: 17,530,747		probably benign	Het
Thoc6	T	A	17: 23,670,868	I23F	possibly damaging	Het
Tmem185b	T	G	1: 119,526,564	Y18*	probably null	Het
Trav6-1	A	C	14: 52,638,797	Y58S	probably damaging	Het
Trbv16	A	T	6: 41,152,055	I58F	probably benign	Het
Ubtfl1	T	A	9: 18,409,542	M122K	probably benign	Het
Vps13a	T	C	19: 16,619,028		probably null	Het
Zdhhc24	T	G	19: 4,883,750	D278E	probably benign	Het
Zfp316	T	C	5: 143,264,672		probably null	Het
Zfyve9	T	C	4: 108,691,681	T769A	possibly damaging	Het
Znhit6	T	A	3: 145,578,348	N96K	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCTCCTAAAGCAAGCAGAAG -3'
(R):5'- CACTGCCACAAGCCTTTATG -3'

Sequencing Primer
(F):5'- CCCAGGTTGATGCATATCGCTAAAG -3'
(R):5'- CTGCCACAAGCCTTTATGTGTAAGG -3'

Posted On

2017-03-31