Mutagenetix > Incidental Mutation

Incidental Mutation 'R6289:Keg1'

508326

Institutional Source

Beutler Lab

Gene Symbol

Keg1

Ensembl Gene

ENSMUSG00000024694

Gene Name

kidney expressed gene 1

Synonyms

0610008P16Rik, GS4059

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6289 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12695786-12719902 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 12714573 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 85 (C85G)

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: C85G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: C85G

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

possibly damaging
Transcript: ENSMUST00000138545
AA Change: C75G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694
AA Change: C75G

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: C75G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: C75G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,560,706	V94A	probably damaging	Het
Ankrd36	T	C	11: 5,628,837	S34P	probably damaging	Het
Arid3c	G	A	4: 41,724,285		probably benign	Het
Atg16l1	C	T	1: 87,756,215	R6C	probably damaging	Het
Bex6	A	G	16: 32,186,712	I113V	probably benign	Het
Blk	T	C	14: 63,375,892		probably null	Het
C1s1	A	G	6: 124,531,176	F618S	probably damaging	Het
Casp8ap2	C	T	4: 32,639,590	H215Y	probably damaging	Het
Casp9	T	A	4: 141,807,185	V302E	probably damaging	Het
Ccl2	A	C	11: 82,036,969	K80Q	probably benign	Het
Cit	T	G	5: 116,006,326	*2014E	probably null	Het
Dclk2	A	T	3: 86,831,817	S292T	probably benign	Het
Ddx23	T	C	15: 98,649,884	E463G	probably benign	Het
Dennd1b	T	C	1: 139,168,945		probably benign	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fgf10	C	A	13: 118,715,492	Q37K	probably benign	Het
Fgf22	A	G	10: 79,755,207	D24G	probably damaging	Het
Gabra1	A	G	11: 42,155,019	I88T	probably damaging	Het
Grip2	A	G	6: 91,778,871	I586T	probably benign	Het
Hist1h1b	G	T	13: 21,780,439	P39Q	probably damaging	Het
Hpse2	T	A	19: 42,788,979	N583Y	probably null	Het
Katnal2	A	G	18: 77,017,455		probably null	Het
Kidins220	T	A	12: 25,056,616	L1356H	probably damaging	Het
Lifr	A	G	15: 7,166,910	K192E	probably benign	Het
Mks1	T	C	11: 87,859,659		probably null	Het
Olfr1464-ps1	T	C	19: 13,282,794	K88R	possibly damaging	Het
Rars	C	T	11: 35,826,067	M207I	probably damaging	Het
Rbm6	T	C	9: 107,777,948	Y896C	probably damaging	Het
Scarf1	T	A	11: 75,525,416	W472R	possibly damaging	Het
Sept8	A	G	11: 53,534,478	N66S	probably damaging	Het
Smcr8	T	C	11: 60,778,598	F191L	probably damaging	Het
Tdrd6	A	G	17: 43,624,520	M1879T	probably benign	Het
Tlr3	C	T	8: 45,396,929	R901Q	probably benign	Het
Trpc4ap	T	C	2: 155,663,707	T203A	possibly damaging	Het
Tubgcp5	A	G	7: 55,795,923	S58G	probably benign	Het
Ubtd2	A	G	11: 32,516,177	E132G	probably damaging	Het
Uggt2	T	A	14: 119,041,602	E831V	probably damaging	Het
Umodl1	A	G	17: 30,982,351	N418S	probably benign	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Wdhd1	A	C	14: 47,258,496	I637S	possibly 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
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
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'- GCCCAGAGCAAGTTATACTTTC -3'
(R):5'- GTAACTCAAGGGTTCCTTTTGG -3'

Sequencing Primer
(F):5'- CTGGACTCACTTTGTAGACCAGG -3'
(R):5'- CAGCCTGCTCAGTGTCTGTG -3'

Posted On

2018-03-15