Mutagenetix > Incidental Mutation

Incidental Mutation 'RF052:Gm5591'

605166

Institutional Source

Beutler Lab

Gene Symbol

Gm5591

Ensembl Gene

ENSMUSG00000060565

Gene Name

predicted gene 5591

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

RF052 (G1)

Quality Score

148.458

Status

Not validated

Chromosome

Chromosomal Location

38217563-38227617 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CACAGGCAGA to CA at 38221999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079759]

AlphaFold

Q8CDK1

Predicted Effect

probably null
Transcript: ENSMUST00000079759

SMART Domains

Protein: ENSMUSP00000078695
Gene: ENSMUSG00000060565

Domain	Start	End	E-Value	Type
low complexity region	319	330	N/A	INTRINSIC
Pfam:DUF4629	437	582	1.2e-59	PFAM
low complexity region	648	660	N/A	INTRINSIC
low complexity region	693	704	N/A	INTRINSIC
low complexity region	711	723	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	CCGCCCACG	CCGCCCACGCCCACG	16: 56,447,948 (GRCm39)		probably benign	Het
Chd4	CC	CCACTGGC	6: 125,099,108 (GRCm39)		probably benign	Het
Chga	CAG	CAGAAG	12: 102,527,675 (GRCm39)		probably benign	Het
Cnpy3	CTC	CTCATC	17: 47,047,674 (GRCm39)		probably benign	Het
Cyb5r4	GGATGTGACAGACACACTGCCCAG	GGATGTGACAGACACACTGCCCAGTGATGTGACAGACACACTGCCCAG	9: 86,922,475 (GRCm39)		probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,589 (GRCm39)		probably benign	Het
Gabre	GGCTCC	GGCTCCTGCTCC	X: 71,313,653 (GRCm39)		probably benign	Het
Irag2	A	ACCCC	6: 145,106,257 (GRCm39)		probably benign	Het
Lkaaear1	C	T	2: 181,339,226 (GRCm39)	D75N	probably damaging	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,776 (GRCm39)		probably benign	Het
Nusap1	ACGTTAGCAGTGAGGAGCAAGCTGAGA	ACGTTAGCAGTGAGGAGCAAGCTGAGATACGCGTTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,065 (GRCm39)		probably benign	Het
Prp2	AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGAGACCCCCTCAAGGCCCACCACC	6: 132,577,475 (GRCm39)		probably benign	Het
Rassf6	CATGGTCCTGTAGAGCAATGGGGATTC	CATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTAATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,775 (GRCm39)		probably benign	Het
Rassf6	CTGTAGAGCAATGGGGATTC	CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC	5: 90,756,782 (GRCm39)		probably benign	Het
Setd1a	G	GTGGTGGTGT	7: 127,384,529 (GRCm39)		probably benign	Het
Supt20	AGCAGC	AGCAGCCGCAGC	3: 54,635,086 (GRCm39)		probably benign	Het
Tnfaip8	ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,179,900 (GRCm39)		probably null	Het

Other mutations in Gm5591

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm5591	APN	7	38,219,838 (GRCm39)	missense	probably benign	0.20
IGL02277:Gm5591	APN	7	38,218,462 (GRCm39)	missense	possibly damaging	0.92
IGL02277:Gm5591	APN	7	38,219,856 (GRCm39)	missense	probably damaging	0.98
IGL02503:Gm5591	APN	7	38,219,433 (GRCm39)	missense	probably damaging	1.00
IGL02897:Gm5591	APN	7	38,219,466 (GRCm39)	missense	probably damaging	1.00
IGL02899:Gm5591	APN	7	38,218,842 (GRCm39)	missense	probably damaging	1.00
R1599:Gm5591	UTSW	7	38,219,794 (GRCm39)	missense	probably benign
R2365:Gm5591	UTSW	7	38,218,825 (GRCm39)	missense	probably damaging	1.00
R3054:Gm5591	UTSW	7	38,220,058 (GRCm39)	missense	probably benign	0.35
R4619:Gm5591	UTSW	7	38,220,072 (GRCm39)	missense	probably benign	0.04
R4722:Gm5591	UTSW	7	38,218,572 (GRCm39)	missense	probably damaging	1.00
R4779:Gm5591	UTSW	7	38,221,680 (GRCm39)	missense	probably damaging	0.96
R5079:Gm5591	UTSW	7	38,221,560 (GRCm39)	missense	probably benign	0.01
R5237:Gm5591	UTSW	7	38,221,631 (GRCm39)	missense	probably benign	0.31
R5267:Gm5591	UTSW	7	38,218,338 (GRCm39)	missense	possibly damaging	0.94
R6337:Gm5591	UTSW	7	38,221,319 (GRCm39)	missense	probably benign	0.00
R6458:Gm5591	UTSW	7	38,218,459 (GRCm39)	missense	probably damaging	1.00
R6671:Gm5591	UTSW	7	38,219,523 (GRCm39)	missense	possibly damaging	0.71
R6709:Gm5591	UTSW	7	38,221,499 (GRCm39)	missense	probably benign	0.31
R6874:Gm5591	UTSW	7	38,219,715 (GRCm39)	missense	probably damaging	0.97
R6917:Gm5591	UTSW	7	38,221,614 (GRCm39)	missense	probably damaging	0.99
R6993:Gm5591	UTSW	7	38,218,647 (GRCm39)	missense	probably benign
R7446:Gm5591	UTSW	7	38,218,933 (GRCm39)	missense	probably benign	0.16
R7519:Gm5591	UTSW	7	38,220,094 (GRCm39)	missense	possibly damaging	0.70
R7596:Gm5591	UTSW	7	38,219,608 (GRCm39)	missense	probably benign
R7923:Gm5591	UTSW	7	38,221,338 (GRCm39)	missense	probably benign	0.13
R8003:Gm5591	UTSW	7	38,219,183 (GRCm39)	missense	probably damaging	0.96
R8027:Gm5591	UTSW	7	38,221,722 (GRCm39)	missense	probably damaging	0.99
R8058:Gm5591	UTSW	7	38,218,363 (GRCm39)	missense	probably benign	0.00
R8242:Gm5591	UTSW	7	38,219,746 (GRCm39)	missense	probably benign
R8719:Gm5591	UTSW	7	38,221,614 (GRCm39)	missense	probably benign	0.03
R8943:Gm5591	UTSW	7	38,219,727 (GRCm39)	missense	probably benign	0.21
R9314:Gm5591	UTSW	7	38,221,884 (GRCm39)	missense	probably benign	0.00
R9403:Gm5591	UTSW	7	38,221,680 (GRCm39)	missense	probably damaging	0.96
R9403:Gm5591	UTSW	7	38,219,572 (GRCm39)	missense	probably benign	0.00
R9424:Gm5591	UTSW	7	38,219,721 (GRCm39)	missense	probably damaging	1.00
RF062:Gm5591	UTSW	7	38,221,759 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGTTCCCACTTGAGAACACCTG -3'
(R):5'- CTTCAGTCTTAGACAATCCCAGC -3'

Sequencing Primer
(F):5'- TTCCCACTTGAGAACACCTGGATAG -3'
(R):5'- CCAGTAAAAACTAGAGATAGCATTGC -3'

Posted On

2019-12-04