Mutagenetix > Incidental Mutation

Incidental Mutation 'R7900:A530084C06Rik'

609957

Institutional Source

Beutler Lab

Gene Symbol

A530084C06Rik

Ensembl Gene

ENSMUSG00000090863

Gene Name

RIKEN cDNA A530084C06 gene

Synonyms

MMRRC Submission

045952-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31740117-31743316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31742978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 92 (R92S)

Ref Sequence

ENSEMBL: ENSMUSP00000129167 (fasta)

Gene Model

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

AlphaFold

Q3UTW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000042118
AA Change: D27Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036952
Gene: ENSMUSG00000038415
AA Change: D27Y

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: R92S

SMART Domains

Protein: ENSMUSP00000129167
Gene: ENSMUSG00000090863
AA Change: R92S

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,177,735 (GRCm39)	F309S	probably damaging	Het
Ankle1	C	T	8: 71,860,061 (GRCm39)	T213I	probably damaging	Het
C4b	A	G	17: 34,958,751 (GRCm39)	S528P	probably benign	Het
Camk2a	A	G	18: 61,090,438 (GRCm39)	Y222C	probably damaging	Het
Cnst	A	G	1: 179,450,453 (GRCm39)	D639G	probably damaging	Het
Ctbp2	A	C	7: 132,616,328 (GRCm39)	S202R	probably benign	Het
Cwf19l2	G	T	9: 3,460,107 (GRCm39)	L798F	probably damaging	Het
Cyp11a1	T	A	9: 57,923,667 (GRCm39)	V124E	possibly damaging	Het
Ddx3y	C	T	Y: 1,266,594 (GRCm39)		probably null	Het
Dlst	G	T	12: 85,177,292 (GRCm39)	R346L	probably benign	Het
Dnah2	A	G	11: 69,409,254 (GRCm39)	S375P	probably damaging	Het
Dnm3	T	A	1: 162,182,940 (GRCm39)	Y125F	probably benign	Het
Dock9	C	T	14: 121,783,491 (GRCm39)	A2011T	possibly damaging	Het
Efr3a	T	A	15: 65,719,984 (GRCm39)		probably null	Het
Egln1	A	T	8: 125,640,879 (GRCm39)	I319N	possibly damaging	Het
Gata3	T	A	2: 9,863,461 (GRCm39)	N351I	probably damaging	Het
Gjd3	T	C	11: 102,690,920 (GRCm39)	N361S	probably benign	Het
Gpcpd1	T	C	2: 132,376,659 (GRCm39)	T546A	probably damaging	Het
Gpihbp1	T	C	15: 75,469,791 (GRCm39)	F169L	probably benign	Het
Gpnmb	A	T	6: 49,027,400 (GRCm39)	I375L	possibly damaging	Het
Itpka	A	T	2: 119,580,994 (GRCm39)	T381S	probably benign	Het
Lhx4	T	C	1: 155,617,709 (GRCm39)		probably benign	Het
Lrguk	T	C	6: 34,106,129 (GRCm39)	L718P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nr1d1	T	A	11: 98,660,537 (GRCm39)	T477S	probably benign	Het
Nxnl1	A	T	8: 72,019,170 (GRCm39)	D18E	probably damaging	Het
Onecut2	G	T	18: 64,474,658 (GRCm39)	R403L	probably damaging	Het
Or51v14	T	C	7: 103,260,900 (GRCm39)	Y220C	possibly damaging	Het
Or5an1	T	A	19: 12,260,705 (GRCm39)	C98S	probably damaging	Het
Pla2r1	T	C	2: 60,258,858 (GRCm39)	T1177A	possibly damaging	Het
Prkd2	T	C	7: 16,587,269 (GRCm39)	V405A	probably benign	Het
Ranbp1	T	C	16: 18,063,161 (GRCm39)	T72A	probably damaging	Het
Retnla	A	C	16: 48,663,977 (GRCm39)	R90S	probably benign	Het
Sec31b	A	T	19: 44,514,669 (GRCm39)	I385N	probably damaging	Het
Slc6a19	C	T	13: 73,848,583 (GRCm39)	R57H	probably damaging	Het
Smurf1	T	C	5: 144,836,183 (GRCm39)	D110G	probably damaging	Het
Specc1	A	G	11: 62,110,187 (GRCm39)	Y975C	probably damaging	Het
Tas2r136	T	A	6: 132,754,599 (GRCm39)	N176I	possibly damaging	Het
Tecrl	A	C	5: 83,427,188 (GRCm39)	V320G	probably benign	Het
Tmem245	A	G	4: 56,924,973 (GRCm39)		probably null	Het
Tpd52l1	T	A	10: 31,214,178 (GRCm39)		probably null	Het
Trbv2	A	G	6: 41,024,908 (GRCm39)	Y108C	probably damaging	Het
Trpm7	T	C	2: 126,639,418 (GRCm39)	M1689V	probably benign	Het
Usp24	A	G	4: 106,266,597 (GRCm39)	Y1855C	probably damaging	Het
Usp9y	A	T	Y: 1,384,354 (GRCm39)	S721R	possibly damaging	Het
Vwf	G	A	6: 125,605,439 (GRCm39)		probably null	Het
Washc4	T	A	10: 83,409,637 (GRCm39)		probably null	Het
Yeats4	G	A	10: 117,056,464 (GRCm39)	H71Y	possibly damaging	Het
Zbtb38	A	C	9: 96,570,989 (GRCm39)	L32V	probably damaging	Het
Zfy1	T	C	Y: 725,519 (GRCm39)	T749A	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
R5866:A530084C06Rik	UTSW	13	31,743,178 (GRCm39)	missense	unknown
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
R7902:A530084C06Rik	UTSW	13	31,742,978 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCTTTCGGAAAAGCGTCTC -3'
(R):5'- CGTTCTGCTGTCATCAGTTG -3'

Sequencing Primer
(F):5'- AAGCGTCTCTCTCGGAAAGACG -3'
(R):5'- GTCATCAGTTGCCTCCGGAC -3'

Posted On

2019-12-20