Mutagenetix > Incidental Mutations

Incidental Mutation 'R2304:Gkn3'

244525

Institutional Source

Beutler Lab

Gene Symbol

Gkn3

Ensembl Gene

ENSMUSG00000030048

Gene Name

gastrokine 3

Synonyms

MMRRC Submission

040303-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R2304 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

87383256-87388935 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87383525 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 163 (A163T)

Ref Sequence

ENSEMBL: ENSMUSP00000032127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032127] [ENSMUST00000032128]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032127
AA Change: A163T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032127
Gene: ENSMUSG00000030048
AA Change: A163T

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
BRICHOS	63	155	1.47e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000032128

SMART Domains

Protein: ENSMUSP00000032128
Gene: ENSMUSG00000030049

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
BRICHOS	54	151	6.63e-34	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	A	5: 8,092,366	R806S	probably damaging	Het
Ccdc187	T	C	2: 26,281,017	K483R	possibly damaging	Het
Dcdc5	T	A	2: 106,336,143		noncoding transcript	Het
Dvl1	C	T	4: 155,855,584	S391F	probably damaging	Het
Erg28	A	G	12: 85,816,163	L125P	probably damaging	Het
Gm5449	G	T	13: 53,525,863		noncoding transcript	Het
Grid2ip	T	C	5: 143,387,840	Y796H	probably damaging	Het
Mcrip1	A	T	11: 120,544,693	F39I	probably damaging	Het
Olfr1135	T	A	2: 87,671,894	I158L	probably benign	Het
Prss53	T	C	7: 127,888,307	N291D	probably benign	Het
Ptpru	A	T	4: 131,772,568	V1255D	probably damaging	Het
Rbl1	T	C	2: 157,147,631	T1023A	probably benign	Het
Rnaseh2b	T	C	14: 62,361,389	S188P	probably damaging	Het
Sh2d6	T	C	6: 72,520,559	E20G	probably damaging	Het
Slc13a5	A	G	11: 72,259,039	V172A	probably damaging	Het
Slco5a1	C	T	1: 12,879,262	G635S	probably damaging	Het
Sp8	G	T	12: 118,848,569	S53I	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Togaram1	G	T	12: 64,976,856		probably null	Het
Trip11	A	T	12: 101,898,977	F146I	possibly damaging	Het
Vmn1r184	T	C	7: 26,267,125	S99P	probably damaging	Het
Xpot	T	C	10: 121,611,583	I325V	probably benign	Het
Zfp786	A	G	6: 47,820,699	L435P	probably damaging	Het

Other mutations in Gkn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02170:Gkn3	APN	6	87383511	missense	possibly damaging	0.70
IGL02746:Gkn3	APN	6	87387357	splice site	probably benign
IGL03345:Gkn3	APN	6	87388816	missense	probably null	0.09
R1758:Gkn3	UTSW	6	87388835	start codon destroyed	probably benign
R2303:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R2363:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R2365:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R2897:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R2898:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R2983:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R3031:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R3426:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R3433:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4085:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4086:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4087:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4088:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4089:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4090:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4163:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4164:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4720:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4721:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4722:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4723:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4766:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R4941:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R5004:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R5163:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R6078:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R6079:Gkn3	UTSW	6	87383525	missense	probably damaging	1.00
R6502:Gkn3	UTSW	6	87388804	missense	probably benign	0.01
R6924:Gkn3	UTSW	6	87388802	missense	probably benign	0.05
R7695:Gkn3	UTSW	6	87384440	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCATGGGAAGCCAACATG -3'
(R):5'- TCTTCAAGACACAAGGGTCCC -3'

Sequencing Primer
(F):5'- TGTGGAGCACAGAGGACTGC -3'
(R):5'- CACACTGGGCTAAGGGGTTAC -3'

Posted On

2014-10-30