Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02563:Keg1'

298751

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Keg1

Ensembl Gene

ENSMUSG00000024694

Gene Name

kidney expressed gene 1

Synonyms

0610008P16Rik, GS4059

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02563

Quality Score

Status

Chromosome

Chromosomal Location

12695786-12719902 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12719157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 288 (N288I)

Ref Sequence

ENSEMBL: ENSMUSP00000025598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025598] [ENSMUST00000138545] [ENSMUST00000154822]

AlphaFold

Q9DCY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025598
AA Change: N288I

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

SMART Domains

Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: N288I

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	205	1.2e-89	PFAM
Pfam:Gly_acyl_tr_C	206	294	1.9e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128987

Predicted Effect

probably benign
Transcript: ENSMUST00000138545

SMART Domains

Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	195	4.2e-96	PFAM
Pfam:Gly_acyl_tr_C	196	228	4.3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152017

Predicted Effect

probably benign
Transcript: ENSMUST00000154822

SMART Domains

Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	156	1.2e-71	PFAM
Pfam:Gly_acyl_tr_C	153	221	3.2e-37	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	T	2: 35,380,398	V97E	probably damaging	Het
9530053A07Rik	G	A	7: 28,157,892	E2222K	probably benign	Het
Abhd16a	C	T	17: 35,101,245	T362M	probably damaging	Het
Adam23	T	G	1: 63,567,977		probably benign	Het
Apeh	C	A	9: 108,093,709	R87L	possibly damaging	Het
Arid3a	T	A	10: 79,950,883	M490K	probably damaging	Het
Atp6v1b1	T	A	6: 83,755,451	V251D	probably benign	Het
Cog8	C	T	8: 107,056,423	R78Q	possibly damaging	Het
Cyld	T	C	8: 88,735,894	I701T	probably damaging	Het
Dmgdh	A	G	13: 93,674,539		probably benign	Het
Dnm1	T	C	2: 32,315,919		probably null	Het
Dopey2	T	A	16: 93,777,405	V2D	probably damaging	Het
Dusp22	A	T	13: 30,705,645	S70C	possibly damaging	Het
Dync2h1	T	C	9: 7,035,700	Q3415R	possibly damaging	Het
Dysf	T	C	6: 84,186,516		probably benign	Het
Fam114a1	G	A	5: 65,006,148		probably null	Het
Fam20a	T	A	11: 109,677,794	Q302L	possibly damaging	Het
Fancm	T	A	12: 65,092,462	L374H	probably damaging	Het
Fgf17	G	A	14: 70,636,738	Q204*	probably null	Het
Gap43	T	C	16: 42,292,132	T89A	probably benign	Het
Gm5069	A	G	1: 180,327,899		probably benign	Het
Gm9913	C	T	2: 125,506,334		probably benign	Het
Gpr174	T	C	X: 107,293,248	L222P	probably benign	Het
Grid2	A	T	6: 64,345,873	Q619L	possibly damaging	Het
Hoxc13	A	G	15: 102,921,798	D204G	possibly damaging	Het
Itgav	T	C	2: 83,771,236	V317A	probably benign	Het
Ksr1	C	T	11: 79,044,858	V234I	possibly damaging	Het
Lrp1	T	A	10: 127,551,686	D3365V	probably damaging	Het
Luc7l3	A	T	11: 94,300,068		probably null	Het
Mta2	T	C	19: 8,948,051	I348T	probably benign	Het
Nphp4	A	G	4: 152,556,220	I1015V	probably benign	Het
Nup214	C	T	2: 31,977,860	S113F	probably damaging	Het
Olfr1303	T	C	2: 111,813,817	K303R	probably benign	Het
Pabpn1l	T	A	8: 122,620,383	T228S	probably damaging	Het
Paxx	T	C	2: 25,459,662	*206W	probably null	Het
Pcdhb10	A	G	18: 37,413,073	T401A	probably benign	Het
Ppp1r3a	A	C	6: 14,719,762	D384E	probably benign	Het
Rif1	T	C	2: 52,077,065	V122A	probably damaging	Het
Scn4b	T	C	9: 45,146,682	L24P	probably damaging	Het
Sec22c	T	C	9: 121,684,650		probably benign	Het
Sh3rf2	A	G	18: 42,156,142	D676G	probably damaging	Het
Slc20a1	A	G	2: 129,207,684	T289A	probably benign	Het
Tekt2	T	C	4: 126,324,625	D84G	possibly damaging	Het
Tgfbr2	T	A	9: 116,129,998	N116I	probably benign	Het
Tmem196	A	G	12: 119,946,474	M1V	probably null	Het
Tnn	A	G	1: 160,114,553	V1125A	probably damaging	Het
Vmn2r51	A	T	7: 10,100,316	M265K	probably benign	Het
Zfp319	T	C	8: 95,323,734		probably benign	Het
Zfp65	A	T	13: 67,708,065	V365E	possibly damaging	Het
Zp3	T	A	5: 135,987,610		probably null	Het

Other mutations in Keg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Keg1	APN	19	12719000	missense	probably damaging	1.00
IGL01084:Keg1	APN	19	12714612	missense	probably damaging	1.00
IGL03328:Keg1	APN	19	12719097	missense	probably damaging	1.00
R0103:Keg1	UTSW	19	12718916	missense	possibly damaging	0.79
R0103:Keg1	UTSW	19	12718916	missense	possibly damaging	0.79
R0417:Keg1	UTSW	19	12711060	missense	probably damaging	1.00
R1300:Keg1	UTSW	19	12719004	missense	probably damaging	0.98
R1476:Keg1	UTSW	19	12716023	missense	probably benign
R1482:Keg1	UTSW	19	12718821	missense	probably damaging	1.00
R1643:Keg1	UTSW	19	12719042	missense	probably benign	0.00
R4002:Keg1	UTSW	19	12718943	missense	possibly damaging	0.95
R5022:Keg1	UTSW	19	12719157	missense	probably damaging	1.00
R5164:Keg1	UTSW	19	12714680	intron	probably benign
R5386:Keg1	UTSW	19	12714538	missense	probably damaging	1.00
R6289:Keg1	UTSW	19	12714573	missense	probably damaging	0.98
R6517:Keg1	UTSW	19	12715910	missense	probably benign	0.00
R6656:Keg1	UTSW	19	12709630	nonsense	probably null
R7117:Keg1	UTSW	19	12709678	missense	probably damaging	1.00
R7676:Keg1	UTSW	19	12716045	missense	probably benign	0.00
R7807:Keg1	UTSW	19	12714634	critical splice donor site	probably null

Posted On

2015-04-16