Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03328:Keg1'

416739

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 #

IGL03328

Quality Score

Status

Chromosome

Chromosomal Location

12695786-12719902 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12719097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 215 (N215S)

Ref Sequence

ENSEMBL: ENSMUSP00000119879 (fasta)

Gene Model

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

AlphaFold

Q9DCY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025598
AA Change: N268S

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

SMART Domains

Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: N268S

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 damaging
Transcript: ENSMUST00000154822
AA Change: N215S

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

SMART Domains

Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: N215S

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	A	T	2: 23,212,805	Y185F	possibly damaging	Het
Acaca	A	T	11: 84,320,529	M1556L	probably benign	Het
Aicda	T	G	6: 122,562,437	D187E	probably benign	Het
Arfgap3	A	C	15: 83,343,081	F43L	probably damaging	Het
AW551984	T	C	9: 39,597,116	E368G	probably damaging	Het
Bbs4	T	C	9: 59,344,118	E33G	probably damaging	Het
Bcas1	T	A	2: 170,366,396	K437*	probably null	Het
Brwd1	A	T	16: 96,002,725	W2082R	probably damaging	Het
Card6	A	T	15: 5,105,445		probably benign	Het
Cd200r4	A	G	16: 44,833,519	I226M	possibly damaging	Het
Cep57l1	T	C	10: 41,743,152	E73G	probably damaging	Het
Chaf1a	T	G	17: 56,063,374	F613C	probably damaging	Het
Clybl	G	T	14: 122,401,994	K323N	probably damaging	Het
Coa7	A	G	4: 108,338,282	D136G	probably damaging	Het
Col5a2	C	A	1: 45,376,146	V1478L	possibly damaging	Het
Ctnnd2	T	C	15: 30,921,847		probably benign	Het
Cyp4f17	T	G	17: 32,520,626	M174R	probably damaging	Het
Dnah10	A	T	5: 124,754,290	D794V	probably benign	Het
Eapp	A	G	12: 54,692,093	S87P	probably benign	Het
Efnb3	A	G	11: 69,557,205	I137T	probably damaging	Het
Eif4e	T	A	3: 138,553,727		probably benign	Het
Fam83b	T	A	9: 76,493,042	I260L	probably benign	Het
Fras1	A	G	5: 96,781,760	T4008A	probably damaging	Het
Fut8	A	T	12: 77,365,229	R118W	probably damaging	Het
Glt1d1	A	C	5: 127,657,119	D119A	probably benign	Het
Gm3727	T	A	14: 7,261,685	*206C	probably null	Het
Gmip	G	A	8: 69,811,611	V174M	possibly damaging	Het
Gtf2ird1	A	G	5: 134,389,129		probably null	Het
Haao	C	T	17: 83,846,649	C23Y	probably damaging	Het
Hip1	A	T	5: 135,424,874	V400E	probably damaging	Het
Lss	T	G	10: 76,540,951	I334S	probably damaging	Het
Lyn	A	C	4: 3,745,327	E77D	probably benign	Het
Myo3a	A	G	2: 22,578,198	E1426G	probably benign	Het
Ncapg2	A	G	12: 116,440,057	E863G	possibly damaging	Het
Ncl	T	C	1: 86,352,597	Y496C	probably damaging	Het
Nefm	A	T	14: 68,121,290	S432T	probably benign	Het
Nipsnap1	A	G	11: 4,884,096	Y95C	possibly damaging	Het
Npc1l1	C	A	11: 6,218,643	E913*	probably null	Het
Nup205	T	C	6: 35,232,414	L1552P	probably damaging	Het
Olfr1217	G	T	2: 89,023,855	Y49*	probably null	Het
Olfr1356	C	T	10: 78,847,367	E183K	probably benign	Het
Olfr325	A	G	11: 58,581,713	N290D	probably damaging	Het
Olfr652	T	A	7: 104,564,470	V83D	probably damaging	Het
Osm	A	C	11: 4,238,426	I18L	unknown	Het
Otoa	T	A	7: 121,110,994	S254R	probably damaging	Het
Parp1	T	C	1: 180,599,590		probably benign	Het
Pcdh17	A	G	14: 84,533,111	I1010V	probably benign	Het
Peli2	A	T	14: 48,252,575		probably null	Het
Pkd1l3	T	G	8: 109,662,106		probably benign	Het
Pkhd1	A	G	1: 20,081,300		probably benign	Het
Polg2	A	C	11: 106,768,337	V450G	probably benign	Het
Ptpn13	A	T	5: 103,516,348	T401S	probably benign	Het
Rgs22	C	T	15: 36,043,204		probably null	Het
Rttn	T	G	18: 89,043,028	S1107A	probably benign	Het
Scn5a	G	T	9: 119,537,636	N328K	probably benign	Het
Sned1	G	A	1: 93,289,367	A1325T	probably benign	Het
St8sia4	T	A	1: 95,660,870	E80V	probably benign	Het
Stard7	T	C	2: 127,292,256		probably benign	Het
Suco	G	T	1: 161,820,421	P1099T	probably damaging	Het
Syn2	G	T	6: 115,274,260	C459F	probably damaging	Het
Tas2r117	A	C	6: 132,803,078	I60L	probably benign	Het
Tcrg-C4	A	G	13: 19,352,246	Y158C	unknown	Het
Tomm70a	T	C	16: 57,144,787	C445R	probably damaging	Het
Tpsab1	T	A	17: 25,345,128	D87V	probably benign	Het
Trpm6	A	T	19: 18,838,082	E1177D	possibly damaging	Het
Vmn2r71	A	T	7: 85,624,291	D771V	probably damaging	Het
Vmn2r93	A	T	17: 18,304,958	T293S	probably damaging	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
IGL02563:Keg1	APN	19	12719157	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

2016-08-02