Mutagenetix > Incidental Mutation

Incidental Mutation 'R7633:A530084C06Rik'

589780

Institutional Source

Beutler Lab

Gene Symbol

A530084C06Rik

Ensembl Gene

ENSMUSG00000090863

Gene Name

RIKEN cDNA A530084C06 gene

Synonyms

MMRRC Submission

045721-MU

Accession Numbers

Essential gene?

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

Stock #

R7633 (G1)

Quality Score

206.009

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,263,465 (GRCm39)	I2029V	probably benign	Het
Anks1b	A	C	10: 90,784,446 (GRCm39)	D1138A	probably damaging	Het
Atr	T	A	9: 95,829,171 (GRCm39)	V2508E	probably damaging	Het
C4b	C	T	17: 34,948,373 (GRCm39)		probably null	Het
Calhm4	G	A	10: 33,919,904 (GRCm39)	T121M	possibly damaging	Het
Cd46	A	T	1: 194,765,927 (GRCm39)	M146K	probably null	Het
Chp1	A	G	2: 119,391,226 (GRCm39)	I28V	probably benign	Het
Chrnb1	T	A	11: 69,683,699 (GRCm39)	R216W	probably damaging	Het
Clmn	G	A	12: 104,748,371 (GRCm39)	T392M	probably benign	Het
Cracd	A	G	5: 77,005,367 (GRCm39)	E576G	unknown	Het
Dcxr	A	C	11: 120,617,279 (GRCm39)	L88R	probably benign	Het
Dedd	C	T	1: 171,166,478 (GRCm39)	P138L	probably benign	Het
Degs1	A	G	1: 182,107,263 (GRCm39)	S35P	probably damaging	Het
Ehmt1	T	C	2: 24,705,792 (GRCm39)	D851G	possibly damaging	Het
Fam117b	A	G	1: 60,020,693 (GRCm39)	D521G	probably damaging	Het
Gm6882	A	G	7: 21,161,577 (GRCm39)	V97A	probably damaging	Het
Hgs	A	T	11: 120,365,128 (GRCm39)	Q172L	probably damaging	Het
Hormad2	T	C	11: 4,296,662 (GRCm39)	Q274R	probably benign	Het
Igkv8-19	C	T	6: 70,318,383 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,161,757 (GRCm39)	N377S	probably benign	Het
Intu	G	A	3: 40,608,683 (GRCm39)	G232S	probably damaging	Het
Lypd9	C	A	11: 58,338,304 (GRCm39)	M29I	probably benign	Het
Mov10	A	G	3: 104,704,381 (GRCm39)	S806P	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,331 (GRCm39)	F194L	probably benign	Het
Notch3	A	T	17: 32,377,596 (GRCm39)	I160K	probably benign	Het
Nup155	C	G	15: 8,138,937 (GRCm39)	S3W	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Or8s5	A	G	15: 98,237,967 (GRCm39)	I301T	probably damaging	Het
Plxdc1	A	T	11: 97,846,977 (GRCm39)	F147L	possibly damaging	Het
Ppfia1	T	C	7: 144,106,173 (GRCm39)	D33G	possibly damaging	Het
Prdm11	G	A	2: 92,810,999 (GRCm39)	A200V	probably damaging	Het
Qrich2	A	T	11: 116,347,455 (GRCm39)	I1123K	unknown	Het
Rgs1	A	G	1: 144,124,215 (GRCm39)		probably null	Het
Skint7	T	A	4: 111,841,337 (GRCm39)	V259E	probably benign	Het
Slc25a3	A	T	10: 90,953,904 (GRCm39)		probably null	Het
Slc28a2b	A	T	2: 122,317,161 (GRCm39)	R7S	probably null	Het
Slco1a6	A	T	6: 142,091,481 (GRCm39)	I73N	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Spock2	G	A	10: 59,962,002 (GRCm39)	D206N	probably damaging	Het
Stard3nl	T	G	13: 19,552,008 (GRCm39)	R185S	probably damaging	Het
Supt16	A	G	14: 52,434,556 (GRCm39)	Y18H	probably benign	Het
Synpo	G	A	18: 60,736,500 (GRCm39)	T482I	probably damaging	Het
Tcstv7b	G	A	13: 120,702,376 (GRCm39)	W57*	probably null	Het
Tmc6	G	T	11: 117,660,046 (GRCm39)	T694K	probably benign	Het
Trim59	T	A	3: 68,945,259 (GRCm39)	H27L	probably damaging	Het
Trpv2	G	A	11: 62,481,832 (GRCm39)		probably null	Het
Tyw5	A	T	1: 57,432,644 (GRCm39)	D117E	probably benign	Het
Usp17la	T	C	7: 104,510,354 (GRCm39)	Y320H	probably damaging	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Vmn1r159	T	A	7: 22,542,448 (GRCm39)	T195S	probably damaging	Het
Vmn2r57	C	T	7: 41,074,513 (GRCm39)	V517M	possibly damaging	Het
Yipf1	A	G	4: 107,176,193 (GRCm39)	N29S	probably benign	Het
Zfp954	A	T	7: 7,118,823 (GRCm39)	F240L	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
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'- CCTTTCGGAAAAGCGTCTCTC -3'
(R):5'- CGTTCTGCTGTCATCAGTTG -3'

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

Posted On

2019-10-24