Mutagenetix > Incidental Mutation

Incidental Mutation 'R7902:A530084C06Rik'

610057

Institutional Source

Beutler Lab

Gene Symbol

A530084C06Rik

Ensembl Gene

ENSMUSG00000090863

Gene Name

RIKEN cDNA A530084C06 gene

Synonyms

MMRRC Submission

045954-MU

Accession Numbers

Essential gene?

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

Stock #

R7902 (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: 99.7%
20x: 99.1%

Validation Efficiency

97% (34/35)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	C	10: 61,041,176 (GRCm39)	S842G	possibly damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccdc7a	A	G	8: 129,562,654 (GRCm39)	I1108T	possibly damaging	Het
Col12a1	T	A	9: 79,548,863 (GRCm39)	M2161L	probably benign	Het
Col14a1	T	C	15: 55,364,832 (GRCm39)	I1647T	probably benign	Het
Defb26	A	T	2: 152,350,156 (GRCm39)	C41*	probably null	Het
Dennd3	T	G	15: 73,439,964 (GRCm39)		probably benign	Het
Edem1	C	T	6: 108,831,338 (GRCm39)	R600W	possibly damaging	Het
F13a1	C	A	13: 37,172,913 (GRCm39)	G156W	probably damaging	Het
Foxk2	A	G	11: 121,190,553 (GRCm39)	T565A	probably benign	Het
Fsip2	A	T	2: 82,808,168 (GRCm39)	I1496F	possibly damaging	Het
Fyb1	T	C	15: 6,690,197 (GRCm39)		probably null	Het
Gapdhs	T	C	7: 30,436,146 (GRCm39)	Y148C	probably damaging	Het
H1f3	T	C	13: 23,739,505 (GRCm39)	I81T	probably damaging	Het
Hddc2	A	T	10: 31,192,289 (GRCm39)	R64S	probably damaging	Het
Hddc2	T	A	10: 31,196,338 (GRCm39)		probably null	Het
Klk10	T	A	7: 43,432,942 (GRCm39)	S113T	probably benign	Het
Lin7a	T	C	10: 107,159,843 (GRCm39)	S52P	possibly damaging	Het
Nbeal1	A	T	1: 60,331,029 (GRCm39)	I2213L	probably damaging	Het
Nbeal2	T	C	9: 110,466,615 (GRCm39)	T763A	probably benign	Het
Nlrp4a	T	A	7: 26,149,482 (GRCm39)	I363N	possibly damaging	Het
Oat	C	T	7: 132,161,393 (GRCm39)	V381I	probably benign	Het
Or52n2c	A	G	7: 104,574,557 (GRCm39)	L138P	probably damaging	Het
Plpp2	A	T	10: 79,363,378 (GRCm39)	I207N	possibly damaging	Het
Rps6ka4	T	C	19: 6,808,679 (GRCm39)	E522G	possibly damaging	Het
Sars2	T	C	7: 28,441,628 (GRCm39)	V63A	probably benign	Het
Sgf29	C	T	7: 126,271,350 (GRCm39)	R209C	probably damaging	Het
Sptbn1	G	A	11: 30,086,048 (GRCm39)	A1220V	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tnrc18	T	C	5: 142,757,902 (GRCm39)	E1055G		Het
Vmn1r158	A	T	7: 22,489,433 (GRCm39)	C259S	possibly damaging	Het
Vmn2r120	T	G	17: 57,816,244 (GRCm39)	I704L	possibly damaging	Het
Vwa8	A	G	14: 79,329,731 (GRCm39)	S1188G	probably benign	Het
Zfp12	A	G	5: 143,231,535 (GRCm39)	K653E	probably damaging	Het
Zfp933	T	A	4: 147,911,058 (GRCm39)	R179S	probably damaging	Het
Zfp937	A	T	2: 150,080,681 (GRCm39)	H237L	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
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

Predicted Primers

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

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

Posted On

2019-12-20