Mutagenetix > Incidental Mutation

Incidental Mutation 'R5164:Keg1'

395625

Institutional Source

Beutler Lab

Gene Symbol

Keg1

Ensembl Gene

ENSMUSG00000024694

Gene Name

kidney expressed gene 1

Synonyms

0610008P16Rik, GS4059

MMRRC Submission

042745-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5164 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12695786-12719902 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 12714680 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119879 (fasta)

Gene Model

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

AlphaFold

Q9DCY0

Predicted Effect

probably benign
Transcript: ENSMUST00000025598

SMART Domains

Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,435,674	H4637Q	probably benign	Het
Akap6	A	G	12: 53,142,466	H2221R	probably benign	Het
Arsj	A	T	3: 126,438,159	M185L	probably benign	Het
Ccdc177	T	C	12: 80,758,562	T313A	unknown	Het
Cdkal1	A	T	13: 29,625,719	L214H	probably damaging	Het
Cfap44	T	A	16: 44,481,389	I1830N	probably damaging	Het
Cfap65	T	C	1: 74,926,516	K445R	probably damaging	Het
Chrnb3	T	A	8: 27,394,132	I299N	probably damaging	Het
Cse1l	C	A	2: 166,944,428	D826E	probably benign	Het
Cwf19l2	T	C	9: 3,475,511	V816A	probably damaging	Het
Dnah5	A	T	15: 28,408,292	E3474D	probably benign	Het
Dock5	A	T	14: 67,817,661	Y585*	probably null	Het
Ebf2	T	C	14: 67,390,521	S322P	possibly damaging	Het
Epha8	T	C	4: 136,945,672	E267G	possibly damaging	Het
Fam126b	T	C	1: 58,535,438	T315A	probably benign	Het
Fkbp5	A	G	17: 28,437,990		probably null	Het
Gbp4	T	A	5: 105,136,877	K49*	probably null	Het
Gm13212	T	C	4: 145,622,205	Y71H	probably damaging	Het
Gramd4	A	T	15: 86,100,831	T98S	probably benign	Het
H2-Ke6	A	G	17: 34,026,978		probably benign	Het
Hectd1	C	A	12: 51,827,489	M1I	probably null	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Lilra6	A	T	7: 3,914,881	V88E	probably damaging	Het
Mast1	A	G	8: 84,913,518		probably benign	Het
Mdn1	A	G	4: 32,759,011		probably null	Het
Nrd1	C	T	4: 109,039,717	T511I	probably damaging	Het
Olfr1058	T	C	2: 86,385,471	T316A	probably benign	Het
Olfr1204	T	A	2: 88,852,570	L207I	probably benign	Het
Olfr478	G	A	7: 108,032,280	T21I	possibly damaging	Het
Pms1	A	G	1: 53,207,640	V301A	probably damaging	Het
Pnisr	A	T	4: 21,859,237	Q144L	possibly damaging	Het
Pp2d1	G	T	17: 53,508,070	T542K	probably benign	Het
Ppargc1b	A	T	18: 61,302,644	C922S	probably damaging	Het
Ptprd	T	C	4: 76,100,758		probably null	Het
Runx3	T	C	4: 135,121,130	S9P	possibly damaging	Het
Serpina1b	A	G	12: 103,732,087	S168P	probably benign	Het
Slc14a2	G	A	18: 78,157,272	A722V	probably damaging	Het
Slc23a2	T	A	2: 132,075,450		probably benign	Het
Slc47a1	A	G	11: 61,353,060		probably null	Het
Tcf20	A	G	15: 82,856,603	S216P	probably damaging	Het
Tpst1	T	A	5: 130,102,001	I104N	probably damaging	Het
Ttc25	G	A	11: 100,571,520	W506*	probably null	Het
Ufm1	A	C	3: 53,857,927		probably benign	Het
Unkl	A	G	17: 25,213,109		probably null	Het
Usf3	T	C	16: 44,218,180	S1008P	probably damaging	Het
Ythdf3	T	C	3: 16,183,513	V6A	possibly damaging	Het
Zc3h3	A	T	15: 75,777,026	S752R	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
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

Predicted Primers

PCR Primer
(F):5'- CATGACAGATGACCTTGACCAC -3'
(R):5'- ACAACTCCAGAAGCTATAGTCTTG -3'

Sequencing Primer
(F):5'- TGACAGATGACCTTGACCACTACAAC -3'
(R):5'- CTCCAGAAGCTATAGTCTTGTTTAC -3'

Posted On

2016-06-21