Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01084:Keg1'

53235

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 #

IGL01084

Quality Score

Status

Chromosome

Chromosomal Location

12695786-12719902 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12714612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 98 (K98E)

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: K98E

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

SMART Domains

Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: K98E

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 damaging
Transcript: ENSMUST00000138545
AA Change: K88E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694
AA Change: K88E

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: K88E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: K88E

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930412O13Rik	A	G	2: 9,883,073		probably benign	Het
Aagab	C	A	9: 63,639,619	Q284K	probably damaging	Het
Adgrd1	A	T	5: 129,139,592	N341I	probably benign	Het
Arhgap40	T	C	2: 158,543,218	F457S	probably damaging	Het
Cacng5	C	T	11: 107,881,705	V106I	probably benign	Het
Catsper1	G	A	19: 5,337,772	V360M	probably damaging	Het
Cdc42bpa	T	A	1: 180,142,274		probably benign	Het
Cep250	C	T	2: 155,998,393	H2424Y	probably benign	Het
Cln3	T	C	7: 126,575,254	E304G	probably damaging	Het
Eml2	T	A	7: 19,190,738	C177*	probably null	Het
Epha5	G	A	5: 84,071,087	R917*	probably null	Het
Gabra2	A	G	5: 71,006,233	F244L	probably damaging	Het
Gars	C	A	6: 55,055,827	D261E	probably benign	Het
Kif13a	A	G	13: 46,750,634		probably benign	Het
Matn1	A	G	4: 130,951,934	K300E	probably benign	Het
Mesp1	A	G	7: 79,793,083	S149P	probably benign	Het
Mmp10	T	C	9: 7,505,650	V305A	possibly damaging	Het
Muc5b	T	C	7: 141,843,449		probably benign	Het
Myof	T	C	19: 37,936,436	T1181A	probably damaging	Het
Olfr1161	T	C	2: 88,025,003	S94P	probably benign	Het
Olfr1504	G	T	19: 13,887,502	T236N	probably damaging	Het
Olfr398	A	T	11: 73,984,527	L27Q	probably damaging	Het
Osbpl11	T	C	16: 33,226,851		probably benign	Het
Prune2	T	C	19: 17,118,209	V359A	probably benign	Het
Ptch1	T	A	13: 63,543,637	E267D	probably damaging	Het
Rbl2	A	G	8: 91,122,313	E1049G	probably damaging	Het
Ruvbl2	A	T	7: 45,422,523		probably null	Het
Sec23b	A	G	2: 144,564,589	I101M	possibly damaging	Het
Srms	A	C	2: 181,206,384		probably null	Het
Svep1	T	A	4: 58,111,419	T1067S	possibly damaging	Het
Tedc1	C	T	12: 113,163,188	R357*	probably null	Het
Tmem127	T	C	2: 127,257,086	V180A	probably damaging	Het
Trpm7	A	G	2: 126,846,072		probably null	Het
Trpv3	G	A	11: 73,294,000		probably null	Het
Tti1	C	T	2: 157,982,459	V1025I	probably damaging	Het
Vmn2r80	A	G	10: 79,194,599	Y753C	probably damaging	Het
Vps13d	A	G	4: 145,154,955	L1350S	probably benign	Het
Zfp287	G	T	11: 62,713,890	Y730*	probably null	Het
Zfp583	A	G	7: 6,317,185	F276S	probably damaging	Het
Zfp638	T	C	6: 83,944,798	Y636H	probably benign	Het

Other mutations in Keg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Keg1	APN	19	12719000	missense	probably damaging	1.00
IGL02563:Keg1	APN	19	12719157	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

2013-06-21