Mutagenetix > Incidental Mutation

Incidental Mutation 'R9725:Gkn1'

730983

Institutional Source

Beutler Lab

Gene Symbol

Gkn1

Ensembl Gene

ENSMUSG00000030050

Gene Name

gastrokine 1

Synonyms

BRICD1, AMP-18, 2200002K21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9725 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87322635-87327897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87323289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 175 (S175P)

Ref Sequence

ENSEMBL: ENSMUSP00000032129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032129]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032129
AA Change: S175P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032129
Gene: ENSMUSG00000030050
AA Change: S175P

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	23	36	N/A	INTRINSIC
BRICHOS	54	148	5.64e-37	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found to be down-regulated in human gastric cancer tissue as compared to normal gastric mucosa. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	G	16: 14,290,797 (GRCm39)	I1469S	possibly damaging	Het
Aff1	A	T	5: 103,994,931 (GRCm39)	D1043V	probably damaging	Het
Ahnak	T	A	19: 8,991,607 (GRCm39)	I4297N	probably damaging	Het
Ahnak	A	G	19: 8,981,533 (GRCm39)	N939S	probably benign	Het
Camk2b	T	C	11: 5,922,634 (GRCm39)	N465S	possibly damaging	Het
Carns1	A	G	19: 4,216,548 (GRCm39)	S545P	probably damaging	Het
Cdh23	T	A	10: 60,432,561 (GRCm39)	Q121L	probably benign	Het
Cfap221	G	T	1: 119,862,352 (GRCm39)	Q577K	probably benign	Het
Dlg1	T	G	16: 31,665,683 (GRCm39)	L680R	probably benign	Het
Fahd2a	T	C	2: 127,278,304 (GRCm39)	E301G	probably benign	Het
Fn3k	T	A	11: 121,341,191 (GRCm39)	L282H	probably damaging	Het
Fubp1	T	A	3: 151,927,823 (GRCm39)	I424N	probably damaging	Het
Gm12695	A	G	4: 96,616,466 (GRCm39)	S456P	probably damaging	Het
Kcna5	T	C	6: 126,511,844 (GRCm39)	T95A	probably benign	Het
Kcnj13	G	T	1: 87,314,737 (GRCm39)	T83K	probably benign	Het
Kif19b	G	A	5: 140,460,651 (GRCm39)	R439H	probably benign	Het
Klra10	C	T	6: 130,252,849 (GRCm39)	G142R	probably benign	Het
Krt14	T	C	11: 100,097,902 (GRCm39)	N127S	probably damaging	Het
Layn	T	C	9: 50,968,775 (GRCm39)	M323V	probably benign	Het
Lrrd1	A	G	5: 3,901,147 (GRCm39)	D484G	probably benign	Het
Lrrtm2	A	G	18: 35,345,788 (GRCm39)	C505R	probably damaging	Het
Ms4a14	A	T	19: 11,280,729 (GRCm39)	S610T	probably benign	Het
Myo5b	A	G	18: 74,856,841 (GRCm39)	N1282S	probably benign	Het
Naip5	A	T	13: 100,358,784 (GRCm39)	D817E	possibly damaging	Het
Ndufs2	A	G	1: 171,074,629 (GRCm39)	L10P	possibly damaging	Het
Nxn	T	C	11: 76,169,362 (GRCm39)	D139G	probably damaging	Het
Or3a1b	A	G	11: 74,012,612 (GRCm39)	T166A	probably benign	Het
Or5b105	G	A	19: 13,080,272 (GRCm39)	T132I	possibly damaging	Het
Or6aa1	A	C	7: 86,043,973 (GRCm39)	H244Q	probably damaging	Het
Pcdhb22	G	T	18: 37,652,794 (GRCm39)	V164F	probably damaging	Het
Plch2	T	C	4: 155,084,992 (GRCm39)	T417A	probably damaging	Het
Prcp	G	T	7: 92,567,035 (GRCm39)		probably null	Het
Rasgrp2	A	G	19: 6,454,694 (GRCm39)	Y178C	probably damaging	Het
Rasgrp2	A	G	19: 6,463,907 (GRCm39)	N535S	probably benign	Het
Rgs20	G	T	1: 4,980,793 (GRCm39)	Y208*	probably null	Het
Slc39a10	A	G	1: 46,849,223 (GRCm39)	C798R	probably damaging	Het
Slco2b1	A	G	7: 99,335,265 (GRCm39)	S172P	probably benign	Het
Styk1	GTCTCTTCATGATT	GT	6: 131,278,610 (GRCm39)		probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tmc2	T	A	2: 130,089,881 (GRCm39)	I622N	probably damaging	Het
Trav16n	A	G	14: 53,588,559 (GRCm39)	S5G	probably benign	Het
Tti1	C	T	2: 157,849,304 (GRCm39)	R645H	probably benign	Het
Ttll3	A	G	6: 113,386,114 (GRCm39)	D649G	probably damaging	Het
Vcam1	C	T	3: 115,922,287 (GRCm39)	V79I	possibly damaging	Het
Vmn1r211	T	C	13: 23,036,506 (GRCm39)	I54V	probably benign	Het
Vmn1r238	A	G	18: 3,122,577 (GRCm39)	F279S	probably benign	Het
Vps33a	A	T	5: 123,669,135 (GRCm39)	W589R	possibly damaging	Het
Zic1	A	G	9: 91,246,875 (GRCm39)	S66P	probably damaging	Het

Other mutations in Gkn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Gkn1	APN	6	87,323,321 (GRCm39)	missense	probably damaging	0.99
IGL02314:Gkn1	APN	6	87,326,103 (GRCm39)	missense	probably benign	0.17
R1240:Gkn1	UTSW	6	87,326,098 (GRCm39)	missense	probably damaging	1.00
R1698:Gkn1	UTSW	6	87,324,151 (GRCm39)	missense	probably damaging	1.00
R1750:Gkn1	UTSW	6	87,326,105 (GRCm39)	missense	unknown
R5747:Gkn1	UTSW	6	87,323,319 (GRCm39)	missense	probably benign	0.01
R7220:Gkn1	UTSW	6	87,326,135 (GRCm39)	splice site	probably null
R7352:Gkn1	UTSW	6	87,325,100 (GRCm39)	missense	possibly damaging	0.94
R7799:Gkn1	UTSW	6	87,325,163 (GRCm39)	missense	probably damaging	1.00
R8986:Gkn1	UTSW	6	87,325,160 (GRCm39)	missense	probably damaging	1.00
R9447:Gkn1	UTSW	6	87,323,322 (GRCm39)	missense	probably benign	0.08
R9661:Gkn1	UTSW	6	87,325,173 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGCATGTCATTACAAACTGG -3'
(R):5'- CAAGGTGTCAGCCTAAGATCC -3'

Sequencing Primer
(F):5'- TACAAACTGGATGTGCTGCC -3'
(R):5'- GGTGTCAGCCTAAGATCCTAATC -3'

Posted On

2022-10-06