Mutagenetix > Incidental Mutation

Incidental Mutation 'R8186:C130073F10Rik'

634854

Institutional Source

Beutler Lab

Gene Symbol

C130073F10Rik

Ensembl Gene

ENSMUSG00000046133

Gene Name

RIKEN cDNA C130073F10 gene

Synonyms

MMRRC Submission

067609-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8186 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101747217-101750986 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 101748031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 48 (R48*)

Ref Sequence

ENSEMBL: ENSMUSP00000059092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051043]

AlphaFold

Q8C4L8

Predicted Effect

probably null
Transcript: ENSMUST00000051043
AA Change: R48*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	G	A	6: 86,085,002 (GRCm39)	V543M	probably benign	Het
Agl	A	G	3: 116,552,557 (GRCm39)	I459T	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Atg16l2	C	T	7: 100,945,714 (GRCm39)		probably null	Het
Bltp2	A	G	11: 78,177,457 (GRCm39)	T1921A	probably damaging	Het
Cdc25b	C	T	2: 131,031,050 (GRCm39)	T125M	probably benign	Het
Cdc42bpg	T	A	19: 6,356,895 (GRCm39)	F50L	probably damaging	Het
Chd9	T	A	8: 91,725,233 (GRCm39)	D1187E	unknown	Het
Col4a2	T	C	8: 11,475,542 (GRCm39)		probably null	Het
Cped1	T	C	6: 22,123,587 (GRCm39)	S447P	probably benign	Het
Ddx19a	T	A	8: 111,710,274 (GRCm39)	M109L	probably benign	Het
Def8	C	A	8: 124,188,215 (GRCm39)	Y431*	probably null	Het
Gata4	A	G	14: 63,438,962 (GRCm39)	S373P	probably benign	Het
Gm9837	A	T	11: 53,361,136 (GRCm39)	L26*	probably null	Het
Hspa1b	A	T	17: 35,176,557 (GRCm39)	V476E	probably damaging	Het
Htr5b	G	A	1: 121,456,108 (GRCm39)		probably benign	Het
Hydin	T	C	8: 111,336,277 (GRCm39)	V5018A	probably benign	Het
Ighv1-85	A	G	12: 115,963,923 (GRCm39)	S26P	probably benign	Het
Kics2	T	A	10: 121,581,247 (GRCm39)	F83I	possibly damaging	Het
Lrrc2	A	G	9: 110,789,910 (GRCm39)	K56E	possibly damaging	Het
Macf1	A	T	4: 123,266,219 (GRCm39)	I6793N	probably damaging	Het
Macf1	A	C	4: 123,275,923 (GRCm39)	V6215G	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfxl1	A	G	5: 72,716,355 (GRCm39)		probably null	Het
Odad4	A	G	11: 100,454,505 (GRCm39)	D430G	probably benign	Het
Oprk1	A	T	1: 5,672,540 (GRCm39)	M226L	probably benign	Het
Or1e1	T	C	11: 73,245,247 (GRCm39)	S223P	possibly damaging	Het
Phf2	A	G	13: 48,961,227 (GRCm39)	L821P	unknown	Het
Rdh7	C	A	10: 127,723,284 (GRCm39)		probably null	Het
Rpl11	A	G	4: 135,778,968 (GRCm39)	V74A	possibly damaging	Het
Safb2	G	A	17: 56,873,051 (GRCm39)	R790C	possibly damaging	Het
Sgpp2	T	C	1: 78,393,609 (GRCm39)	F204S	probably benign	Het
Sgsm3	A	C	15: 80,893,643 (GRCm39)	I426L	possibly damaging	Het
Speer1b	A	G	5: 11,823,926 (GRCm39)	D158G	probably damaging	Het
Styxl2	A	G	1: 165,927,648 (GRCm39)	S655P	probably damaging	Het
Tbccd1	A	G	16: 22,637,189 (GRCm39)	L545P	probably damaging	Het
Toporsl	T	A	4: 52,610,489 (GRCm39)	F127L	probably damaging	Het
Ttn	T	G	2: 76,749,256 (GRCm39)	Q3931P	probably damaging	Het
Tuba1c	C	A	15: 98,935,396 (GRCm39)	L286I	probably benign	Het
Usp48	A	G	4: 137,348,507 (GRCm39)	R528G	possibly damaging	Het
Utrn	T	C	10: 12,573,867 (GRCm39)	T1068A	probably benign	Het
Vmn2r103	A	T	17: 20,032,205 (GRCm39)	T660S	probably damaging	Het
Vmn2r105	G	T	17: 20,444,880 (GRCm39)	Y537*	probably null	Het
Vmn2r88	A	T	14: 51,656,157 (GRCm39)	I744F		Het
Wnt9b	T	C	11: 103,621,601 (GRCm39)	E352G	probably damaging	Het
Zfp78	A	G	7: 6,376,228 (GRCm39)	N46D	probably damaging	Het

Other mutations in C130073F10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02805:C130073F10Rik	APN	4	101,748,171 (GRCm39)	start codon destroyed	probably null	1.00
IGL02869:C130073F10Rik	APN	4	101,747,590 (GRCm39)	nonsense	probably null
R0621:C130073F10Rik	UTSW	4	101,747,992 (GRCm39)	missense	probably damaging	1.00
R1368:C130073F10Rik	UTSW	4	101,747,953 (GRCm39)	missense	possibly damaging	0.78
R1471:C130073F10Rik	UTSW	4	101,747,535 (GRCm39)	missense	probably benign	0.01
R4732:C130073F10Rik	UTSW	4	101,747,907 (GRCm39)	missense	probably benign	0.03
R4733:C130073F10Rik	UTSW	4	101,747,907 (GRCm39)	missense	probably benign	0.03
R5372:C130073F10Rik	UTSW	4	101,747,684 (GRCm39)	missense	probably damaging	1.00
R5777:C130073F10Rik	UTSW	4	101,747,946 (GRCm39)	missense	possibly damaging	0.49
R6510:C130073F10Rik	UTSW	4	101,747,482 (GRCm39)	missense	probably benign	0.01
R6888:C130073F10Rik	UTSW	4	101,747,453 (GRCm39)	missense	probably benign	0.12
R7229:C130073F10Rik	UTSW	4	101,747,439 (GRCm39)	missense	probably benign	0.00
R8353:C130073F10Rik	UTSW	4	101,747,881 (GRCm39)	splice site	probably null
R8857:C130073F10Rik	UTSW	4	101,747,555 (GRCm39)	missense	possibly damaging	0.52
R9559:C130073F10Rik	UTSW	4	101,747,946 (GRCm39)	missense	possibly damaging	0.49
R9590:C130073F10Rik	UTSW	4	101,747,618 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- ACAGTCTTGCCTACCACAAG -3'
(R):5'- AACCCTTATCCTGAGCTGCC -3'

Sequencing Primer
(F):5'- GAACTCAGACTCACTCACCTAGG -3'
(R):5'- AGCCATCCTAAGCTTTGTTCTGAGAG -3'

Posted On

2020-07-13