Mutagenetix > Incidental Mutation

Incidental Mutation 'R6517:Keg1'

520836

Institutional Source

Beutler Lab

Gene Symbol

Keg1

Ensembl Gene

ENSMUSG00000024694

Gene Name

kidney expressed gene 1

Synonyms

0610008P16Rik, GS4059

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R6517 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12695786-12719902 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12715910 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 99 (D99G)

Ref Sequence

ENSEMBL: ENSMUSP00000119879 (fasta)

Gene Model

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

AlphaFold

Q9DCY0

Predicted Effect

probably benign
Transcript: ENSMUST00000025598
AA Change: D109G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: D109G

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
AA Change: D99G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694
AA Change: D99G

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
AA Change: D99G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: D99G

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	C	T	14: 29,982,716	Q58*	probably null	Het
Adamts20	A	C	15: 94,283,104		probably null	Het
Alpk3	T	A	7: 81,078,579	S486T	possibly damaging	Het
Cep162	T	A	9: 87,222,174	E553V	probably damaging	Het
Epha5	T	C	5: 84,156,501	I370V	possibly damaging	Het
Ets1	A	T	9: 32,752,797		probably null	Het
Fbxo38	C	T	18: 62,533,563	E180K	probably damaging	Het
Fscn1	A	G	5: 142,971,986	D296G	probably damaging	Het
Glul	A	G	1: 153,908,033	I325V	probably benign	Het
Krt1	A	T	15: 101,850,267	V154D	possibly damaging	Het
Mdfic	T	A	6: 15,770,325	I110N	probably damaging	Het
Myo1g	T	C	11: 6,512,509	N541D	probably damaging	Het
Nos3	T	A	5: 24,383,624	V1116D	probably damaging	Het
Olfr1098	A	G	2: 86,923,097	I145T	probably benign	Het
Piwil2	G	T	14: 70,374,336	Q954K	probably benign	Het
Ppm1l	T	C	3: 69,317,583	M6T	probably damaging	Het
Scn3a	T	A	2: 65,497,563	E861V	possibly damaging	Het
Senp2	C	T	16: 22,026,724	T236M	possibly damaging	Het
Sgo2b	A	T	8: 63,931,494	V156D	probably damaging	Het
Sis	T	C	3: 72,907,142	Y1585C	probably damaging	Het
Slc22a22	A	G	15: 57,250,969	S321P	probably benign	Het
Slu7	T	A	11: 43,438,148	Y66N	probably damaging	Het
Stra6l	A	G	4: 45,879,473	H365R	probably benign	Het
Stt3b	T	C	9: 115,267,342	T246A	probably benign	Het
Taf1c	T	G	8: 119,604,247	N44T	possibly damaging	Het
Tcirg1	C	T	19: 3,901,933	V376M	probably damaging	Het
Tkt	A	G	14: 30,549,323	D17G	probably damaging	Het
Tle6	G	A	10: 81,591,976	H482Y	probably damaging	Het
Tnks1bp1	T	C	2: 85,059,345	V672A	probably benign	Het
Zdbf2	T	G	1: 63,305,520	D1019E	possibly damaging	Het
Zfp608	A	T	18: 54,899,078	C597S	possibly damaging	Het
Zfp986	G	C	4: 145,899,300	D177H	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGCTTTGTGAACCATCCAAAAC -3'
(R):5'- GAATCCTTCAGATCAGCTTTGTTC -3'

Sequencing Primer
(F):5'- CCTGTCATGATGTAACACAAG -3'
(R):5'- TGTTCACACTTACAGAGGCG -3'

Posted On

2018-06-06