Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01071:Keg1'

53228

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 #

IGL01071

Quality Score

Status

Chromosome

Chromosomal Location

12695786-12719902 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12719000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 183 (Y183N)

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: Y236N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: Y236N

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: Y226N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694
AA Change: Y226N

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: Y183N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: Y183N

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	A	C	6: 65,953,153	D124A	probably damaging	Het
Arhgef17	C	A	7: 100,885,700	V1137L	probably damaging	Het
Birc6	A	T	17: 74,631,701	N2701Y	probably damaging	Het
Birc6	A	G	17: 74,566,132	D462G	possibly damaging	Het
Cadps	C	T	14: 12,509,091		probably null	Het
Camk2a	T	C	18: 60,980,156		probably null	Het
Capn10	T	A	1: 92,945,075	W508R	probably damaging	Het
Cntn3	A	T	6: 102,420,251		probably null	Het
Crisp4	A	G	1: 18,137,007	V19A	probably benign	Het
Depdc1b	A	T	13: 108,357,441	Y121F	probably benign	Het
Dsg1b	T	A	18: 20,409,215	S926R	probably damaging	Het
Eml6	A	G	11: 29,850,816		probably null	Het
Fam208a	T	A	14: 27,442,622		probably null	Het
Gm26938	A	C	5: 139,808,473	V117G	possibly damaging	Het
Mpi	A	T	9: 57,550,592	I109N	probably damaging	Het
Olfr1217	A	G	2: 89,023,175	V276A	probably benign	Het
Olfr305	T	C	7: 86,363,560	K259R	possibly damaging	Het
Olfr53	C	T	7: 140,652,914	H312Y	possibly damaging	Het
Olfr530	C	T	7: 140,373,185	A142T	probably benign	Het
Pcdhb20	A	G	18: 37,504,685	E88G	possibly damaging	Het
Pde6b	G	A	5: 108,419,715	W290*	probably null	Het
Phf20	T	A	2: 156,294,088		probably null	Het
Pkd1l1	A	T	11: 8,848,921	H1830Q	probably benign	Het
Proc	T	C	18: 32,123,717	D299G	probably damaging	Het
Psmd14	A	G	2: 61,800,063	T306A	probably benign	Het
Rab32	G	A	10: 10,557,847	A81V	probably damaging	Het
Samd14	G	A	11: 95,021,468		probably benign	Het
Sh3rf1	T	A	8: 61,225,959	C12S	probably damaging	Het
Sipa1l3	C	T	7: 29,324,220	V663M	possibly damaging	Het
Slc2a5	A	G	4: 150,120,733		probably benign	Het
Tbkbp1	T	C	11: 97,149,562	I9V	probably damaging	Het
Trip10	C	A	17: 57,254,332	R196S	possibly damaging	Het
Vav1	T	C	17: 57,299,176	Y267H	probably benign	Het
Wdr1	T	C	5: 38,530,067	K207R	probably benign	Het

Other mutations in Keg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01084:Keg1	APN	19	12714612	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