Mutagenetix > Incidental Mutation

Incidental Mutation 'R7933:Gm5089'

643726

Institutional Source

Beutler Lab

Gene Symbol

Gm5089

Ensembl Gene

ENSMUSG00000064052

Gene Name

predicted gene 5089

Synonyms

C030005G22Rik

MMRRC Submission

045979-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R7933 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

122603091-122688558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122673403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 106 (D106G)

Ref Sequence

ENSEMBL: ENSMUSP00000080290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081580]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000081580
AA Change: D106G

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	G	11: 50,833,227 (GRCm39)	V125A	unknown	Het
Adam34	T	A	8: 44,103,911 (GRCm39)	H578L	probably damaging	Het
Agap2	C	A	10: 126,922,789 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,400,811 (GRCm39)	M678K	probably benign	Het
Ankrd27	A	G	7: 35,301,074 (GRCm39)		probably benign	Het
Atosb	A	T	4: 43,035,919 (GRCm39)	C271S	probably benign	Het
Atrn	T	C	2: 130,836,986 (GRCm39)	L1150P	probably damaging	Het
Bbs1	T	A	19: 4,941,678 (GRCm39)		probably benign	Het
Camta1	C	T	4: 151,168,214 (GRCm39)	E279K	probably damaging	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Col11a2	A	T	17: 34,275,029 (GRCm39)	K400*	probably null	Het
Cpsf4	T	A	5: 145,104,168 (GRCm39)	M1K	probably null	Het
Dnah12	A	T	14: 26,488,072 (GRCm39)	Q992L	probably benign	Het
Dnajc7	T	C	11: 100,487,038 (GRCm39)	Y145C	probably damaging	Het
Eml5	A	T	12: 98,810,279 (GRCm39)	D892E	possibly damaging	Het
Fam193a	A	G	5: 34,623,539 (GRCm39)	K23E	possibly damaging	Het
Filip1	T	G	9: 79,727,329 (GRCm39)	K430T	possibly damaging	Het
Hip1	A	T	5: 135,489,310 (GRCm39)	N45K	probably damaging	Het
Hivep2	T	C	10: 14,003,581 (GRCm39)	S60P	probably damaging	Het
Ighv1-53	A	T	12: 115,122,029 (GRCm39)	C115*	probably null	Het
Macf1	T	C	4: 123,303,444 (GRCm39)	T353A	probably benign	Het
Mast3	A	T	8: 71,239,279 (GRCm39)	V433E	probably damaging	Het
Mast4	A	T	13: 102,909,071 (GRCm39)	M660K	probably damaging	Het
Nr2e1	T	C	10: 42,439,379 (GRCm39)	Y380C	probably damaging	Het
Or10g9b	T	C	9: 39,918,431 (GRCm39)		probably benign	Het
Or5b111	T	A	19: 13,291,569 (GRCm39)	M27L	probably benign	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Slc6a1	T	A	6: 114,288,859 (GRCm39)	W473R	probably damaging	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Spata31d1e	A	G	13: 59,891,565 (GRCm39)	L85P	probably damaging	Het
Sprr3	T	C	3: 92,364,515 (GRCm39)	I110V	possibly damaging	Het
Ston1	A	G	17: 88,943,572 (GRCm39)	E326G	probably benign	Het
Tapbpl	T	G	6: 125,207,233 (GRCm39)	Q152P	probably damaging	Het
Tectb	C	T	19: 55,183,105 (GRCm39)	L319F	possibly damaging	Het
Tpp2	G	A	1: 44,000,121 (GRCm39)	G413D	probably damaging	Het
Tpsg1	A	G	17: 25,592,178 (GRCm39)	H84R	probably damaging	Het
Usp24	A	G	4: 106,285,686 (GRCm39)	N2437S	probably benign	Het
Usp32	T	C	11: 84,897,885 (GRCm39)	Q1152R	probably damaging	Het
Vmn2r6	T	C	3: 64,467,224 (GRCm39)	T92A	probably benign	Het
Xpo7	A	G	14: 70,944,788 (GRCm39)	V35A	probably benign	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp169	A	G	13: 48,643,957 (GRCm39)	V390A	unknown	Het

Other mutations in Gm5089

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01674:Gm5089	APN	14	122,673,575 (GRCm39)	missense	unknown
BB010:Gm5089	UTSW	14	122,673,403 (GRCm39)	missense	unknown
BB020:Gm5089	UTSW	14	122,673,403 (GRCm39)	missense	unknown
R1710:Gm5089	UTSW	14	122,673,566 (GRCm39)	nonsense	probably null
R2002:Gm5089	UTSW	14	122,673,686 (GRCm39)	missense	unknown
R2264:Gm5089	UTSW	14	122,673,514 (GRCm39)	missense	unknown
R7139:Gm5089	UTSW	14	122,673,403 (GRCm39)	missense	unknown
R9296:Gm5089	UTSW	14	122,673,554 (GRCm39)	missense	unknown
R9414:Gm5089	UTSW	14	122,673,604 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTGCACTTCATATGCAGTCAGG -3'
(R):5'- TTGATGAGAAGACAGACTCCGG -3'

Sequencing Primer
(F):5'- TATGCAGTCAGGATACACTCAG -3'
(R):5'- GCAGGGCATCTCTTGTAT -3'

Posted On

2020-08-07