Mutagenetix > Incidental Mutation

Incidental Mutation 'R5866:A530084C06Rik'

501963

Institutional Source

Beutler Lab

Gene Symbol

A530084C06Rik

Ensembl Gene

ENSMUSG00000090863

Gene Name

RIKEN cDNA A530084C06 gene

Synonyms

MMRRC Submission

044075-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5866 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

31740117-31743316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31743178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 25 (A25V)

Ref Sequence

ENSEMBL: ENSMUSP00000129167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042118] [ENSMUST00000170573]

AlphaFold

Q3UTW2

Predicted Effect

silent
Transcript: ENSMUST00000042118

SMART Domains

Protein: ENSMUSP00000036952
Gene: ENSMUSG00000038415

Domain	Start	End	E-Value	Type
low complexity region	32	72	N/A	INTRINSIC
low complexity region	89	105	N/A	INTRINSIC
FH	113	204	3.98e-50	SMART
low complexity region	206	211	N/A	INTRINSIC
low complexity region	225	254	N/A	INTRINSIC
low complexity region	258	269	N/A	INTRINSIC
low complexity region	296	325	N/A	INTRINSIC
low complexity region	340	355	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000170573
AA Change: A25V

SMART Domains

Protein: ENSMUSP00000129167
Gene: ENSMUSG00000090863
AA Change: A25V

Domain	Start	End	E-Value	Type
low complexity region	5	31	N/A	INTRINSIC
low complexity region	44	67	N/A	INTRINSIC
low complexity region	91	106	N/A	INTRINSIC
low complexity region	168	186	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.7%

Validation Efficiency

91% (51/56)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,096,814 (GRCm39)		probably benign	Het
A730018C14Rik	T	C	12: 112,381,472 (GRCm39)		noncoding transcript	Het
Aasdh	G	T	5: 77,024,058 (GRCm39)	A198E	probably damaging	Het
Abcb8	C	T	5: 24,607,101 (GRCm39)	A328V	probably damaging	Het
Ace3	C	A	11: 105,888,330 (GRCm39)	H347N	probably damaging	Het
Amy1	A	T	3: 113,355,569 (GRCm39)	M302K	possibly damaging	Het
Apol11b	C	T	15: 77,524,747 (GRCm39)	V13M	probably null	Het
Arfgef2	T	A	2: 166,678,177 (GRCm39)	V131E	possibly damaging	Het
Arnt	T	A	3: 95,398,037 (GRCm39)		probably benign	Het
Atl1	T	C	12: 69,972,785 (GRCm39)	V35A	probably damaging	Het
BC061237	A	T	14: 44,738,730 (GRCm39)	D43V	possibly damaging	Het
Cracd	A	G	5: 77,005,384 (GRCm39)	T582A	unknown	Het
Cyp4f17	T	C	17: 32,725,887 (GRCm39)	S7P	probably benign	Het
Ddx60	A	G	8: 62,393,774 (GRCm39)	Y70C	probably damaging	Het
Defb34	T	C	8: 19,176,468 (GRCm39)	L53P	probably damaging	Het
Dennd5a	T	C	7: 109,518,567 (GRCm39)	T525A	probably benign	Het
Ephb3	T	C	16: 21,030,129 (GRCm39)		probably benign	Het
Fam83d	T	A	2: 158,621,750 (GRCm39)		probably null	Het
Gramd2b	A	G	18: 56,607,108 (GRCm39)	D74G	possibly damaging	Het
Hax1	A	G	3: 89,903,035 (GRCm39)		probably benign	Het
Kcnh8	T	C	17: 53,263,804 (GRCm39)	I767T	probably benign	Het
Ldah	G	A	12: 8,270,614 (GRCm39)	V5I	possibly damaging	Het
Nbeal2	A	G	9: 110,460,560 (GRCm39)	V1758A	probably damaging	Het
Nos1	A	G	5: 118,033,967 (GRCm39)	D363G	probably damaging	Het
Or14j6	C	T	17: 38,214,700 (GRCm39)	R88*	probably null	Het
Pdlim7	T	A	13: 55,646,501 (GRCm39)	D445V	probably damaging	Het
Phip	T	A	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Pigb	C	T	9: 72,936,966 (GRCm39)	A215T	probably damaging	Het
Pkd1	A	T	17: 24,799,935 (GRCm39)	S2952C	probably damaging	Het
Plxnb2	T	C	15: 89,051,775 (GRCm39)	D148G	probably damaging	Het
Ppp1r36	T	C	12: 76,473,579 (GRCm39)	F70S	possibly damaging	Het
Rad52	G	A	6: 119,889,907 (GRCm39)		probably benign	Het
Rasa2	T	A	9: 96,427,823 (GRCm39)	T681S	probably benign	Het
Rel	A	T	11: 23,692,724 (GRCm39)	Y436*	probably null	Het
Sec16a	G	A	2: 26,309,650 (GRCm39)	P2119S	probably benign	Het
Sema6d	C	A	2: 124,506,262 (GRCm39)	T733K	probably benign	Het
Sf3b3	C	T	8: 111,541,266 (GRCm39)	A950T	probably benign	Het
Slc24a5	T	A	2: 124,927,591 (GRCm39)	F297I	probably damaging	Het
Spp2	A	T	1: 88,340,025 (GRCm39)	D122V	possibly damaging	Het
Stap1	A	G	5: 86,225,906 (GRCm39)	K60R	probably benign	Het
Stat1	A	G	1: 52,178,423 (GRCm39)	K286E	probably damaging	Het
Stn1	T	C	19: 47,505,568 (GRCm39)	T129A	probably benign	Het
Tagap	C	T	17: 8,152,285 (GRCm39)	T490I	probably damaging	Het
Tbc1d2	T	C	4: 46,637,715 (GRCm39)	E177G	possibly damaging	Het
Tln2	A	T	9: 67,174,150 (GRCm39)	L841Q	probably damaging	Het
Tmem59	T	A	4: 107,047,754 (GRCm39)	M71K	probably damaging	Het
Ugt2a3	G	A	5: 87,484,406 (GRCm39)	T206I	probably damaging	Het
Utp20	G	A	10: 88,608,421 (GRCm39)	H1539Y	possibly damaging	Het
Vps13a	T	C	19: 16,657,387 (GRCm39)	N1794S	probably benign	Het
Vsig10	A	T	5: 117,490,814 (GRCm39)		probably null	Het
Zfp97	T	A	17: 17,365,087 (GRCm39)	F195L	possibly damaging	Het

Other mutations in A530084C06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R0547:A530084C06Rik	UTSW	13	31,742,813 (GRCm39)	utr 5 prime	probably benign
R4700:A530084C06Rik	UTSW	13	31,742,795 (GRCm39)	utr 5 prime	probably benign
R5519:A530084C06Rik	UTSW	13	31,742,702 (GRCm39)	utr 5 prime	probably benign
R7546:A530084C06Rik	UTSW	13	31,742,978 (GRCm39)	missense	unknown
R7549:A530084C06Rik	UTSW	13	31,742,978 (GRCm39)	missense	unknown
R7630:A530084C06Rik	UTSW	13	31,742,978 (GRCm39)	missense	unknown
R7633:A530084C06Rik	UTSW	13	31,742,978 (GRCm39)	missense	unknown
R7899:A530084C06Rik	UTSW	13	31,742,978 (GRCm39)	missense	unknown
R7900:A530084C06Rik	UTSW	13	31,742,978 (GRCm39)	missense	unknown
R7902:A530084C06Rik	UTSW	13	31,742,978 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAAAATGGGCAGCGATCTG -3'
(R):5'- GGAACTTGCCCATGAGGTAC -3'

Sequencing Primer
(F):5'- GACGTGCCATCTCCACTG -3'
(R):5'- GTACTCGTTGATCTCGGCCAG -3'

Posted On

2018-01-31