Mutagenetix > Incidental Mutation

Incidental Mutation 'R9296:Gm5089'

704622

Institutional Source

Beutler Lab

Gene Symbol

Gm5089

Ensembl Gene

ENSMUSG00000064052

Gene Name

predicted gene 5089

Synonyms

C030005G22Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122603091-122688558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122673554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 56 (S56P)

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: S56P

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr1	T	G	6: 87,114,409 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,124,612 (GRCm39)	Y951F	probably damaging	Het
Arhgap44	G	T	11: 64,957,933 (GRCm39)	A83E	probably damaging	Het
Bmpr2	T	C	1: 59,906,502 (GRCm39)	S532P	probably damaging	Het
Brd7	T	C	8: 89,059,560 (GRCm39)	I617V	possibly damaging	Het
Brsk2	A	C	7: 141,552,375 (GRCm39)	S620R	probably benign	Het
C3	T	C	17: 57,511,291 (GRCm39)	M1604V	probably benign	Het
Cacna2d1	G	A	5: 16,564,068 (GRCm39)	R917H	probably damaging	Het
Ccdc17	T	A	4: 116,456,586 (GRCm39)	F452I	probably damaging	Het
Cfap221	T	C	1: 119,883,467 (GRCm39)	I235V	probably null	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Ciita	G	A	16: 10,321,812 (GRCm39)		probably null	Het
Cxcl10	T	C	5: 92,495,997 (GRCm39)	K47E	probably damaging	Het
Cyp2d12	C	T	15: 82,440,435 (GRCm39)	Q75*	probably null	Het
Cyp4f18	C	T	8: 72,756,301 (GRCm39)	V92M	probably benign	Het
D930020B18Rik	A	G	10: 121,497,011 (GRCm39)	R149G	possibly damaging	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dmtf1	A	C	5: 9,190,467 (GRCm39)	D82E	probably benign	Het
Dnah1	T	C	14: 30,996,011 (GRCm39)		probably null	Het
Eps15	T	G	4: 109,173,089 (GRCm39)	D183E	possibly damaging	Het
Fbln5	A	T	12: 101,780,853 (GRCm39)	I7K	probably benign	Het
Fermt3	C	T	19: 6,980,865 (GRCm39)	E289K	possibly damaging	Het
Gm10762	T	A	2: 128,809,149 (GRCm39)	R67W	unknown	Het
H2-T5	C	T	17: 36,479,169 (GRCm39)	G27R	unknown	Het
Itih1	A	G	14: 30,653,251 (GRCm39)	F730L	probably benign	Het
Macf1	T	C	4: 123,400,246 (GRCm39)	H683R	probably damaging	Het
Mapk3	T	A	7: 126,363,518 (GRCm39)	F297L		Het
Mfap3l	G	A	8: 61,124,615 (GRCm39)	V286I	possibly damaging	Het
Myh4	A	G	11: 67,146,130 (GRCm39)	K1396R	possibly damaging	Het
Mylk3	A	T	8: 86,085,561 (GRCm39)	S324R	probably benign	Het
Ndufv3	T	C	17: 31,739,197 (GRCm39)	S4P	probably benign	Het
Nebl	A	T	2: 17,429,451 (GRCm39)		probably benign	Het
Nol4	A	T	18: 22,956,388 (GRCm39)	S119T		Het
Or6k4	A	T	1: 173,964,835 (GRCm39)	H175L	probably benign	Het
Pcdhgb4	T	A	18: 37,853,777 (GRCm39)	S57R	probably benign	Het
Pcyox1	A	G	6: 86,368,735 (GRCm39)	L261P	probably damaging	Het
Plekhm3	G	T	1: 64,961,639 (GRCm39)	H206N	probably benign	Het
Polr2a	T	C	11: 69,625,562 (GRCm39)	T1863A	probably benign	Het
Prl7c1	T	A	13: 27,962,812 (GRCm39)	I64L	probably benign	Het
Psg17	A	T	7: 18,553,991 (GRCm39)	N86K	probably benign	Het
Rab37	A	G	11: 115,045,065 (GRCm39)	E14G	probably benign	Het
Rad54l2	T	A	9: 106,579,942 (GRCm39)	K976N	probably damaging	Het
Rnf213	A	T	11: 119,334,621 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,472,062 (GRCm39)	D602E	probably damaging	Het
Slc22a30	T	A	19: 8,364,119 (GRCm39)	T186S	probably benign	Het
Slc22a4	A	T	11: 53,888,217 (GRCm39)	C270*	probably null	Het
Slc6a4	T	C	11: 76,909,110 (GRCm39)	V374A	probably benign	Het
Spg11	T	C	2: 121,945,175 (GRCm39)	D115G	probably benign	Het
Susd1	T	C	4: 59,427,865 (GRCm39)		probably benign	Het
Tor1a	A	T	2: 30,851,104 (GRCm39)	M286K	probably damaging	Het
Trim12c	G	T	7: 103,994,185 (GRCm39)	A223D		Het
Usp32	A	G	11: 84,908,478 (GRCm39)	I1076T	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r101	G	A	17: 19,810,047 (GRCm39)	D278N	probably damaging	Het
Zan	C	T	5: 137,387,138 (GRCm39)	V4972I	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
R7933:Gm5089	UTSW	14	122,673,403 (GRCm39)	missense	unknown
R9414:Gm5089	UTSW	14	122,673,604 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTACACAATTTCAGTGCTGC -3'
(R):5'- ACTCATTCTTTGACTGTGGGCATG -3'

Sequencing Primer
(F):5'- AGTGCTGCTGAGGGCCTC -3'
(R):5'- GCATGTTTGCCTCTCTGCGTG -3'

Posted On

2022-03-25