Mutagenetix > Incidental Mutation

Incidental Mutation 'R7546:A530084C06Rik'

584229

Institutional Source

Beutler Lab

Gene Symbol

A530084C06Rik

Ensembl Gene

ENSMUSG00000090863

Gene Name

RIKEN cDNA A530084C06 gene

Synonyms

MMRRC Submission

045617-MU

Accession Numbers

Essential gene?

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

Stock #

R7546 (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: 99.6%
20x: 98.8%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,348,330 (GRCm39)	S36P	probably benign	Het
Ampd1	A	G	3: 103,003,028 (GRCm39)	T582A	probably benign	Het
Ank1	A	C	8: 23,555,011 (GRCm39)	N57T	probably damaging	Het
Atxn3	A	G	12: 101,914,261 (GRCm39)		probably null	Het
Bace2	G	A	16: 97,200,882 (GRCm39)	A117T	probably benign	Het
Bcl2l15	A	G	3: 103,740,203 (GRCm39)	N19S	probably benign	Het
Bid	C	A	6: 120,877,112 (GRCm39)		probably null	Het
Cadps2	A	T	6: 23,626,607 (GRCm39)	M227K	probably benign	Het
Clip4	G	A	17: 72,135,697 (GRCm39)	C483Y	possibly damaging	Het
Dennd4a	A	G	9: 64,780,326 (GRCm39)	T621A	probably damaging	Het
E2f3	G	A	13: 30,094,112 (GRCm39)	S383L	probably damaging	Het
F2r	C	T	13: 95,754,858 (GRCm39)	V9I	probably benign	Het
Gm14226	T	C	2: 154,867,131 (GRCm39)	S363P	probably damaging	Het
Gstm5	T	C	3: 107,804,610 (GRCm39)	Y65H	probably damaging	Het
H2bc13	A	G	13: 21,900,040 (GRCm39)	S92P	probably benign	Het
H60c	A	G	10: 3,209,907 (GRCm39)	W127R	probably damaging	Het
Itgav	G	T	2: 83,606,894 (GRCm39)	G448*	probably null	Het
Klrh1	T	C	6: 129,749,343 (GRCm39)	H84R	probably benign	Het
Lhx6	C	T	2: 35,993,357 (GRCm39)		probably null	Het
Manba	T	A	3: 135,276,007 (GRCm39)	V816D	probably benign	Het
Marchf10	G	A	11: 105,280,906 (GRCm39)	P460S	not run	Het
Mmp17	T	A	5: 129,673,653 (GRCm39)	V244E	probably damaging	Het
Mtrr	C	T	13: 68,730,268 (GRCm39)		probably benign	Het
Nup160	T	C	2: 90,515,402 (GRCm39)	I170T	probably damaging	Het
Or4c12b	A	G	2: 89,647,363 (GRCm39)	N225S	probably benign	Het
Or4c12b	A	T	2: 89,647,538 (GRCm39)	L283F	probably damaging	Het
Or51e1	T	C	7: 102,358,996 (GRCm39)	S177P	probably damaging	Het
Pappa	G	A	4: 65,074,352 (GRCm39)	S302N	possibly damaging	Het
Plekhj1	G	A	10: 80,633,748 (GRCm39)	A53V	possibly damaging	Het
Pramel46	T	A	5: 95,418,171 (GRCm39)	H275L	possibly damaging	Het
Pramel48	C	T	5: 95,630,539 (GRCm39)	R139C	probably benign	Het
Prpf8	T	C	11: 75,399,200 (GRCm39)	V2157A	probably damaging	Het
Rps8	G	A	4: 117,011,104 (GRCm39)	R200W	probably damaging	Het
Sesn2	A	G	4: 132,227,154 (GRCm39)	F93L	probably damaging	Het
Skic3	C	A	13: 76,282,954 (GRCm39)	L759M	probably damaging	Het
Slf1	A	G	13: 77,197,311 (GRCm39)	S768P	probably benign	Het
Stat4	A	G	1: 52,137,622 (GRCm39)	N471S	probably damaging	Het
Trcg1	T	C	9: 57,155,621 (GRCm39)	L758P	probably benign	Het
Trim35	A	G	14: 66,540,696 (GRCm39)	T183A	probably benign	Het
Ttr	C	A	18: 20,803,102 (GRCm39)	Y89*	probably null	Het
Zfp90	C	A	8: 107,151,323 (GRCm39)	H345Q	probably benign	Het
Zmym4	A	G	4: 126,757,961 (GRCm39)	V1531A	probably 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
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'- ACCTTTCGGAAAAGCGTCTCTC -3'
(R):5'- GTTCTGCTGTCATCAGTTGC -3'

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

Posted On

2019-10-17