Mutagenetix > Incidental Mutation

Incidental Mutation 'R1300:Keg1'

158339

Institutional Source

Beutler Lab

Gene Symbol

Keg1

Ensembl Gene

ENSMUSG00000024694

Gene Name

kidney expressed gene 1

Synonyms

0610008P16Rik, GS4059

MMRRC Submission

039366-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12695786-12719902 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12719004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 184 (R184Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119879 (fasta)

Gene Model

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

AlphaFold

Q9DCY0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025598
AA Change: R237Q

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: R237Q

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: R227Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694
AA Change: R227Q

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: R184Q

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: R184Q

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,244,808	I2535T	probably damaging	Het
Ank3	A	G	10: 70,004,665	I952V	probably benign	Het
Ankar	A	C	1: 72,643,164	V1414G	probably benign	Het
Arl2	A	G	19: 6,141,073	M10T	probably benign	Het
Arpp21	A	G	9: 112,143,374	I352T	probably damaging	Het
BC067074	T	C	13: 113,366,160	F133S	probably damaging	Het
Cacna1e	T	A	1: 154,398,673	H2162L	probably benign	Het
Cep170b	A	C	12: 112,737,257	M622L	probably benign	Het
Cped1	T	C	6: 22,119,553	V337A	probably benign	Het
Cpn2	T	A	16: 30,259,663	T407S	probably benign	Het
Cpne4	T	C	9: 104,993,134	W263R	probably damaging	Het
Crtc1	A	G	8: 70,387,539		probably null	Het
Dennd5a	A	T	7: 109,919,407	I485N	probably benign	Het
Dnah6	T	C	6: 73,124,709	Q1892R	probably benign	Het
Dse	G	A	10: 34,152,415	A893V	probably benign	Het
Dsg1a	T	G	18: 20,332,149	S466A	probably benign	Het
Dstyk	T	C	1: 132,449,913	V419A	probably benign	Het
Eif2ak4	T	C	2: 118,463,983	V1125A	possibly damaging	Het
Ep400	C	A	5: 110,673,560	G2576C	probably damaging	Het
Eps15l1	A	T	8: 72,391,902	D162E	probably damaging	Het
Fstl4	C	A	11: 53,068,627	T165N	probably benign	Het
Gm5346	A	T	8: 43,626,844	Y114*	probably null	Het
Gm6904	A	T	14: 59,251,114	V78D	probably damaging	Het
Gm8674	T	C	13: 49,901,722		noncoding transcript	Het
Gtsf2	T	A	15: 103,444,353	L39F	possibly damaging	Het
Hck	A	C	2: 153,134,147	D202A	possibly damaging	Het
Il12b	T	A	11: 44,408,076		probably null	Het
Irf4	T	C	13: 30,757,585	L307P	probably damaging	Het
Kmt2c	T	C	5: 25,405,454	D218G	probably damaging	Het
Map1b	T	C	13: 99,432,521	K1231E	unknown	Het
Mapkbp1	T	C	2: 120,013,655	Y293H	probably benign	Het
Mfsd8	A	T	3: 40,823,898	D310E	probably benign	Het
Mmp9	A	T	2: 164,948,956	D88V	probably damaging	Het
Muc5ac	G	T	7: 141,816,929	C2522F	possibly damaging	Het
Myo1e	A	T	9: 70,301,783	I110F	probably damaging	Het
Neu1	A	T	17: 34,934,338	Y279F	possibly damaging	Het
Nhsl1	A	G	10: 18,408,461	H50R	probably benign	Het
Nlrp3	C	T	11: 59,555,768	S780F	possibly damaging	Het
Npc1l1	T	G	11: 6,227,859	D517A	probably damaging	Het
Olfr299	T	C	7: 86,465,743	F111L	probably benign	Het
Olfr30	T	C	11: 58,455,841	Y36C	probably damaging	Het
Olfr392	T	C	11: 73,814,246	T279A	probably benign	Het
Olfr594	G	A	7: 103,220,117	R133Q	probably benign	Het
P3h2	C	A	16: 25,997,236	E176*	probably null	Het
Parp10	C	A	15: 76,241,990	D333Y	possibly damaging	Het
Pcdhb12	C	T	18: 37,437,397	A532V	possibly damaging	Het
Pde2a	A	T	7: 101,510,404	T818S	possibly damaging	Het
Phip	A	T	9: 82,876,747	L1450Q	probably benign	Het
Pinx1	A	G	14: 63,919,410	E262G	probably benign	Het
Ppargc1a	T	C	5: 51,548,672	E19G	probably damaging	Het
Pum1	T	C	4: 130,765,961	I921T	probably damaging	Het
Rgs22	T	A	15: 36,101,762	H106L	probably benign	Het
Slc10a6	T	C	5: 103,606,684	D327G	probably benign	Het
Syt1	A	T	10: 108,631,821	V205D	possibly damaging	Het
Tep1	C	T	14: 50,827,055		probably null	Het
Thnsl2	T	A	6: 71,134,191	Q231L	probably damaging	Het
Ttc4	T	A	4: 106,667,566	H304L	probably damaging	Het
Unc5c	G	A	3: 141,828,543	V923M	possibly damaging	Het
Zfp777	T	C	6: 48,025,770	E506G	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
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

Predicted Primers

PCR Primer
(F):5'- GCATTTTGGTGGCAATGAGAAGAGC -3'
(R):5'- GCATGGATCAATGAGCCAGCAAAAC -3'

Sequencing Primer
(F):5'- CCAGAAGTTCATTGAACGCTG -3'
(R):5'- AGCTTTATAGCGGTACACAGTTCC -3'

Posted On

2014-02-18