Mutagenetix > Incidental Mutation

Incidental Mutation 'R3799:Gm5799'

272893

Institutional Source

Beutler Lab

Gene Symbol

Gm5799

Ensembl Gene

ENSMUSG00000091477

Gene Name

predicted gene 5799

Synonyms

MMRRC Submission

040877-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R3799 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

43781088-43788650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43781150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 17 (G17E)

Ref Sequence

ENSEMBL: ENSMUSP00000129052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169023]

AlphaFold

E9Q2M1

Predicted Effect

probably damaging
Transcript: ENSMUST00000169023
AA Change: G17E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129052
Gene: ENSMUSG00000091477
AA Change: G17E

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	1.3e-26	PFAM
low complexity region	187	198	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,660,863 (GRCm39)	T140A	probably damaging	Het
Adgrf3	T	C	5: 30,401,821 (GRCm39)	I736V	possibly damaging	Het
Alpk3	C	A	7: 80,742,501 (GRCm39)	P773T	probably benign	Het
Ccna1	G	T	3: 54,958,040 (GRCm39)	T155K	probably benign	Het
Cops7a	C	T	6: 124,936,795 (GRCm39)	R252H	probably damaging	Het
Dnah12	T	C	14: 26,492,880 (GRCm39)	W1214R	probably damaging	Het
Ehbp1l1	A	G	19: 5,769,143 (GRCm39)	V720A	probably benign	Het
Exog	T	G	9: 119,278,876 (GRCm39)	N186K	probably damaging	Het
Fgfr1	G	A	8: 26,062,453 (GRCm39)	D663N	probably damaging	Het
Flnc	G	A	6: 29,443,738 (GRCm39)	V587M	probably damaging	Het
Gm1527	A	G	3: 28,980,745 (GRCm39)	N615S	possibly damaging	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Mastl	T	C	2: 23,030,504 (GRCm39)		probably benign	Het
Mogat1	A	G	1: 78,505,775 (GRCm39)	I216V	probably benign	Het
Nans	A	G	4: 46,492,839 (GRCm39)	E89G	probably benign	Het
Nuggc	T	A	14: 65,857,087 (GRCm39)	M396K	probably benign	Het
Nup214	T	C	2: 31,924,694 (GRCm39)	F236S	probably damaging	Het
Osbp2	T	C	11: 3,667,883 (GRCm39)	E145G	probably damaging	Het
Paqr3	T	C	5: 97,259,175 (GRCm39)	N43S	probably damaging	Het
Pard3b	A	G	1: 62,200,388 (GRCm39)	N309S	probably benign	Het
Phrf1	C	T	7: 140,839,831 (GRCm39)	R243*	probably null	Het
Ralgapa1	T	C	12: 55,705,915 (GRCm39)	Y1869C	probably damaging	Het
Setd2	T	C	9: 110,378,639 (GRCm39)	V818A	probably benign	Het
Slc35g3	A	G	11: 69,651,743 (GRCm39)	F103L	probably benign	Het
Tcaf3	T	C	6: 42,574,014 (GRCm39)	E66G	probably damaging	Het
Tdpoz8	A	T	3: 92,981,393 (GRCm39)	D137V	probably damaging	Het
Tmem8b	A	G	4: 43,673,892 (GRCm39)		probably benign	Het
Trpa1	T	C	1: 14,963,488 (GRCm39)	N578S	possibly damaging	Het
Vmn2r25	A	T	6: 123,830,143 (GRCm39)	L3I	probably benign	Het
Vmn2r76	T	C	7: 85,875,244 (GRCm39)	T578A	probably benign	Het
Vwa8	T	A	14: 79,302,336 (GRCm39)	F1002I	probably damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably damaging	Het
Zfp518a	G	T	19: 40,903,754 (GRCm39)	V1228F	probably damaging	Het

Other mutations in Gm5799

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02474:Gm5799	APN	14	43,782,086 (GRCm39)	missense	probably damaging	0.98
R4801:Gm5799	UTSW	14	43,782,005 (GRCm39)	missense	probably damaging	0.96
R4802:Gm5799	UTSW	14	43,782,005 (GRCm39)	missense	probably damaging	0.96
R4821:Gm5799	UTSW	14	43,782,098 (GRCm39)	missense	probably damaging	0.99
R5173:Gm5799	UTSW	14	43,782,116 (GRCm39)	missense	probably damaging	0.98
R6195:Gm5799	UTSW	14	43,782,088 (GRCm39)	missense	probably damaging	0.98
R6233:Gm5799	UTSW	14	43,782,088 (GRCm39)	missense	probably damaging	0.98
R7308:Gm5799	UTSW	14	43,781,164 (GRCm39)	missense	possibly damaging	0.93
R7412:Gm5799	UTSW	14	43,781,995 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- AAATAGGCCTTAGCTGTTCCCAG -3'
(R):5'- CTGTCATTAAGAAAGTCCAAGGC -3'

Sequencing Primer
(F):5'- GCTGTTCCCAGTGACATCATAAG -3'
(R):5'- GTCATTAAGAAAGTCCAAGGCTCCAG -3'

Posted On

2015-03-25