Mutagenetix > Incidental Mutation

Incidental Mutation 'R6655:Gm5160'

526604

Institutional Source

Beutler Lab

Gene Symbol

Gm5160

Ensembl Gene

ENSMUSG00000055795

Gene Name

predicted gene 5160

Synonyms

MMRRC Submission

044776-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6655 (G1)

Quality Score

147.008

Status

Not validated

Chromosome

Chromosomal Location

14557925-14558360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14558187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 88 (F88S)

Ref Sequence

ENSEMBL: ENSMUSP00000094334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069552]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069552
AA Change: F88S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094334
Gene: ENSMUSG00000055795
AA Change: F88S

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	7	146	6.9e-26	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	T	A	4: 144,431,815 (GRCm39)	D130V	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Alg3	T	A	16: 20,427,776 (GRCm39)	Y12F	probably benign	Het
Arhgef28	A	G	13: 98,036,163 (GRCm39)	Y1699H	probably damaging	Het
Cd109	A	G	9: 78,592,220 (GRCm39)	D778G	probably benign	Het
Dlc1	A	G	8: 37,039,870 (GRCm39)	V1430A	probably damaging	Het
Dscaml1	G	A	9: 45,658,235 (GRCm39)	V1669I	probably benign	Het
Fkbp8	A	G	8: 70,985,320 (GRCm39)	Y278C	probably damaging	Het
Kcnh1	A	G	1: 192,095,391 (GRCm39)	N483S	possibly damaging	Het
Lrp2	A	G	2: 69,284,202 (GRCm39)	S3859P	probably benign	Het
Myof	T	C	19: 37,923,239 (GRCm39)	N1351S	probably damaging	Het
Nbn	A	G	4: 15,981,696 (GRCm39)	E596G	probably damaging	Het
Neurl4	T	C	11: 69,801,742 (GRCm39)		probably null	Het
Nol8	T	C	13: 49,807,868 (GRCm39)	L10P	probably damaging	Het
Or2t46	T	A	11: 58,472,036 (GRCm39)	M122K	probably damaging	Het
Or6c213	T	C	10: 129,573,956 (GRCm39)	T277A	possibly damaging	Het
Pex26	T	C	6: 121,167,170 (GRCm39)		probably benign	Het
Rab3gap2	T	C	1: 184,982,208 (GRCm39)	M420T	probably damaging	Het
Samd9l	C	A	6: 3,377,247 (GRCm39)	V5L	probably benign	Het
Sec22b	T	A	3: 97,821,964 (GRCm39)		probably null	Het
Shank1	A	G	7: 43,976,644 (GRCm39)	I581V	unknown	Het
Ssbp2	C	T	13: 91,812,268 (GRCm39)	P105L	probably damaging	Het
Ttll9	T	C	2: 152,842,223 (GRCm39)		probably null	Het
Veph1	T	A	3: 66,113,034 (GRCm39)	I257F	possibly damaging	Het
Vmn1r222	A	C	13: 23,416,886 (GRCm39)	I109S	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wnt16	T	C	6: 22,290,965 (GRCm39)	V131A	probably damaging	Het
Zfp747l1	A	G	7: 126,983,512 (GRCm39)	L530P	possibly damaging	Het

Other mutations in Gm5160

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4418001:Gm5160	UTSW	18	14,558,339 (GRCm39)	missense	probably damaging	0.99
R7826:Gm5160	UTSW	18	14,558,129 (GRCm39)	missense	probably benign	0.00
R8363:Gm5160	UTSW	18	14,557,929 (GRCm39)	missense	possibly damaging	0.92
R8806:Gm5160	UTSW	18	14,557,931 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- CCAATGATGAGACCTCAGGC -3'
(R):5'- TCAGAGTCGGAAATGGTGATC -3'

Sequencing Primer
(F):5'- GAGCTGTTTGCAGACAAAGTTCC -3'
(R):5'- CAGAGTCGGAAATGGTGATCTTCTTG -3'

Posted On

2018-07-23