Mutagenetix > Incidental Mutation

Incidental Mutation 'R5173:Gm5799'

398935

Institutional Source

Beutler Lab

Gene Symbol

Gm5799

Ensembl Gene

ENSMUSG00000091477

Gene Name

predicted gene 5799

Synonyms

MMRRC Submission

042753-MU

Accession Numbers

Essential gene?

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

Stock #

R5173 (G1)

Quality Score

104

Status

Validated

Chromosome

Chromosomal Location

43781088-43788650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43782116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 96 (N96S)

Ref Sequence

ENSEMBL: ENSMUSP00000129052 (fasta)

Gene Model

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

AlphaFold

E9Q2M1

Predicted Effect

probably damaging
Transcript: ENSMUST00000169023
AA Change: N96S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129052
Gene: ENSMUSG00000091477
AA Change: N96S

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	AC	A	11: 9,632,032 (GRCm39)		probably null	Het
Abca6	A	T	11: 110,082,546 (GRCm39)	F1142L	probably benign	Het
Ap1g1	T	A	8: 110,577,764 (GRCm39)		probably null	Het
Apob	T	C	12: 8,058,238 (GRCm39)	V2207A	probably benign	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,618,258 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,260,069 (GRCm39)		probably benign	Het
Coch	C	A	12: 51,643,290 (GRCm39)	Y103*	probably null	Het
Cul3	A	T	1: 80,259,133 (GRCm39)	D382E	possibly damaging	Het
Cul5	T	C	9: 53,554,034 (GRCm39)	T291A	probably benign	Het
Dab1	T	C	4: 104,545,645 (GRCm39)		probably null	Het
Dmtf1	A	G	5: 9,190,356 (GRCm39)		probably benign	Het
Dpp4	T	C	2: 62,217,474 (GRCm39)	Y41C	probably damaging	Het
Eif2ak4	A	G	2: 118,238,841 (GRCm39)	I45M	probably damaging	Het
Epn3	T	C	11: 94,386,923 (GRCm39)	K149R	probably damaging	Het
Flnc	A	G	6: 29,455,537 (GRCm39)	E2029G	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Grik5	T	C	7: 24,762,319 (GRCm39)	H224R	possibly damaging	Het
Lpar6	A	T	14: 73,476,537 (GRCm39)	E166V	probably benign	Het
Mical1	T	C	10: 41,360,985 (GRCm39)	L683P	probably damaging	Het
Mis18bp1	T	C	12: 65,196,149 (GRCm39)	I538M	possibly damaging	Het
Mobp	A	G	9: 119,997,311 (GRCm39)	R77G	possibly damaging	Het
Muc21	G	T	17: 35,931,633 (GRCm39)		probably benign	Het
Mylk	A	G	16: 34,797,383 (GRCm39)	H1614R	probably benign	Het
Or2y16	T	C	11: 49,334,713 (GRCm39)	F12L	probably benign	Het
Or4p18	G	A	2: 88,233,266 (GRCm39)	T4I	probably benign	Het
Or7c19	T	C	8: 85,957,205 (GRCm39)	L27P	probably damaging	Het
Osbpl1a	C	T	18: 12,895,697 (GRCm39)	V390I	probably benign	Het
Pcdha7	C	A	18: 37,107,705 (GRCm39)	D243E	probably benign	Het
Pi4ka	A	T	16: 17,168,770 (GRCm39)	N653K	possibly damaging	Het
Plin5	T	G	17: 56,422,548 (GRCm39)		probably null	Het
Plod1	A	G	4: 148,000,758 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,149,641 (GRCm39)	K372E	probably damaging	Het
Psmd11	C	T	11: 80,351,566 (GRCm39)	T263I	probably benign	Het
Ptprt	A	T	2: 161,769,676 (GRCm39)	N396K	probably benign	Het
Rab39	T	C	9: 53,597,800 (GRCm39)	E155G	probably damaging	Het
Rimbp2	T	C	5: 128,874,712 (GRCm39)	D293G	probably benign	Het
Rnf220	T	C	4: 117,146,471 (GRCm39)		probably benign	Het
Rnmt	C	T	18: 68,454,430 (GRCm39)		probably benign	Het
Slc10a1	T	A	12: 81,002,802 (GRCm39)	I279F	probably damaging	Het
Sp140l1	G	A	1: 85,078,288 (GRCm39)	R54*	probably null	Het
Taar6	A	G	10: 23,861,250 (GRCm39)	Y99H	probably damaging	Het
Tas2r144	T	A	6: 42,193,048 (GRCm39)	F263I	probably benign	Het
Tex15	T	A	8: 34,061,768 (GRCm39)	N399K	possibly damaging	Het
Tlr9	T	A	9: 106,103,151 (GRCm39)	V814D	possibly damaging	Het
Tmem53	T	A	4: 117,122,908 (GRCm39)		probably benign	Het
Ubap2l	T	C	3: 89,928,337 (GRCm39)	I511V	possibly damaging	Het
Vmn2r60	T	C	7: 41,844,935 (GRCm39)	M766T	probably damaging	Het
Zfp462	T	C	4: 55,011,115 (GRCm39)	V1027A	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
R3799:Gm5799	UTSW	14	43,781,150 (GRCm39)	missense	probably damaging	1.00
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
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'- GGGCCATCAACTAAGCACATG -3'
(R):5'- TCCAGCTGTTGACAGAACC -3'

Sequencing Primer
(F):5'- GCCATCAACTAAGCACATGCATTTG -3'
(R):5'- GCTGTTGACAGAACCAATCAG -3'

Posted On

2016-07-06