Mutagenetix > Incidental Mutation

Incidental Mutation 'R8287:Gm14180'

638496

Institutional Source

Beutler Lab

Gene Symbol

Gm14180

Ensembl Gene

ENSMUSG00000078269

Gene Name

predicted gene 14180

Synonyms

MMRRC Submission

067709-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R8287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99625039-99625116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99625068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 17 (S17P)

Ref Sequence

ENSEMBL: ENSMUSP00000100687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105066]

AlphaFold

B1AQA0

Predicted Effect

unknown
Transcript: ENSMUST00000105066
AA Change: S17P

Meta Mutation Damage Score

0.0942

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (27/27)

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,220,852 (GRCm39)		probably null	Het
Apcs	T	G	1: 172,721,814 (GRCm39)	L177F	possibly damaging	Het
Arsa	G	T	15: 89,357,593 (GRCm39)	H457N	probably benign	Het
Atg10	A	T	13: 91,170,799 (GRCm39)		probably benign	Het
Blnk	T	C	19: 40,917,735 (GRCm39)	Y419C	probably damaging	Het
Cdon	A	G	9: 35,375,225 (GRCm39)	D417G	probably benign	Het
Cntnap4	T	C	8: 113,585,775 (GRCm39)	S1133P	probably damaging	Het
Cops2	T	A	2: 125,701,037 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,899 (GRCm39)	M472L	probably damaging	Het
Dlg5	T	A	14: 24,214,453 (GRCm39)	Q379L	probably benign	Het
Dnah12	A	G	14: 26,534,560 (GRCm39)	I2019V	probably benign	Het
Dock7	T	C	4: 98,866,157 (GRCm39)	Y1241C	unknown	Het
Dock8	T	C	19: 25,107,825 (GRCm39)	Y852H	probably damaging	Het
Fcrlb	T	A	1: 170,739,653 (GRCm39)	Y83F	probably damaging	Het
Foxj2	G	A	6: 122,805,226 (GRCm39)	A33T	possibly damaging	Het
Gcnt2	T	C	13: 41,014,108 (GRCm39)	F93S	probably damaging	Het
Gucy1b2	T	C	14: 62,649,265 (GRCm39)	Q437R	probably damaging	Het
Hyou1	A	G	9: 44,299,430 (GRCm39)	D707G	probably benign	Het
Ncam2	A	G	16: 81,323,883 (GRCm39)	Q509R	probably benign	Het
Npsr1	T	C	9: 24,201,258 (GRCm39)	V214A	probably damaging	Het
Or8g51	T	C	9: 38,609,633 (GRCm39)	T14A	probably benign	Het
Slc50a1	G	A	3: 89,177,710 (GRCm39)		probably null	Het
Speg	T	A	1: 75,398,880 (GRCm39)	M2109K	probably benign	Het
Stxbp5	T	C	10: 9,660,129 (GRCm39)	H722R	probably benign	Het
Vmn2r19	A	G	6: 123,308,588 (GRCm39)	N555S	probably damaging	Het
Xrcc1	G	A	7: 24,271,703 (GRCm39)	R562H	probably damaging	Het
Zscan18	T	G	7: 12,509,298 (GRCm39)	K67N	unknown	Het

Other mutations in Gm14180

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01901:Gm14180	APN	11	99,625,053 (GRCm39)	missense	unknown
R0133:Gm14180	UTSW	11	99,625,043 (GRCm39)	missense	unknown
R4491:Gm14180	UTSW	11	99,621,139 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTGGGTTACAATGACCTAC -3'
(R):5'- CCTGAGAGGAGAATCTAGCCTC -3'

Sequencing Primer
(F):5'- CCTGGGTTACAATGACCTACATGAG -3'
(R):5'- AGGAGAATCTAGCCTCGTTTG -3'

Posted On

2020-07-28