Mutagenetix > Incidental Mutation

Incidental Mutation 'R1476:Keg1'

164107

Institutional Source

Beutler Lab

Gene Symbol

Keg1

Ensembl Gene

ENSMUSG00000024694

Gene Name

kidney expressed gene 1

Synonyms

0610008P16Rik, GS4059

MMRRC Submission

039529-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1476 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12695786-12719902 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12716023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 137 (M137L)

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: M147L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: M147L

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: M137L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694
AA Change: M137L

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: M137L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: M137L

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

95% (80/84)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,208,702		probably benign	Het
4932431P20Rik	A	G	7: 29,534,890		noncoding transcript	Het
A730015C16Rik	G	A	4: 108,848,008	V40M	probably damaging	Het
Abcg2	A	G	6: 58,678,337	D419G	probably benign	Het
Adamts17	A	C	7: 67,075,343	E777A	probably damaging	Het
Ak1	A	G	2: 32,633,466	K166R	probably benign	Het
Ankrd12	T	C	17: 65,986,305	K711R	probably damaging	Het
Ate1	A	T	7: 130,418,571		probably null	Het
Atp5a1	A	G	18: 77,781,925	H519R	probably benign	Het
Best1	G	T	19: 9,990,489	Y284*	probably null	Het
C2cd6	A	G	1: 59,076,728		probably benign	Het
Casz1	G	T	4: 148,946,171	V1216L	probably benign	Het
Cdc42bpg	A	G	19: 6,313,782	D493G	probably damaging	Het
Ces2f	A	G	8: 104,952,502	D317G	possibly damaging	Het
Chst15	A	T	7: 132,270,273	M93K	possibly damaging	Het
Cntnap5a	T	C	1: 115,901,020	L58P	probably damaging	Het
Crip3	T	C	17: 46,430,776		probably benign	Het
Csmd2	G	A	4: 128,487,001	E2117K	probably benign	Het
Cstf3	A	G	2: 104,648,219	D212G	possibly damaging	Het
Cttnbp2	T	C	6: 18,434,221	K546R	probably damaging	Het
Cubn	A	G	2: 13,476,120	I308T	probably benign	Het
Cxcl9	T	A	5: 92,325,113	D75V	probably damaging	Het
Dcdc5	C	T	2: 106,358,632		noncoding transcript	Het
Defa30	C	A	8: 21,134,736	T25K	possibly damaging	Het
Dock7	A	T	4: 99,079,435	H239Q	possibly damaging	Het
Dpp4	A	G	2: 62,347,901	V629A	possibly damaging	Het
Fam83a	T	C	15: 58,009,945	M390T	probably benign	Het
Fem1c	A	G	18: 46,524,485	L54P	probably damaging	Het
Fntb	T	A	12: 76,910,233	M282K	probably benign	Het
Gm11099	G	A	2: 58,859,470		probably benign	Het
Gm1527	T	C	3: 28,926,556	S602P	probably benign	Het
Gm20388	A	G	8: 122,269,584		probably benign	Het
Gm5478	T	A	15: 101,644,645	I331F	probably damaging	Het
Gm7853	C	A	14: 36,089,583		noncoding transcript	Het
Gsta2	A	T	9: 78,341,865	C18S	probably benign	Het
H1foo	T	C	6: 115,947,740	V69A	possibly damaging	Het
Hecw1	T	C	13: 14,306,086	E465G	probably damaging	Het
Herc1	A	G	9: 66,508,266	D4841G	probably damaging	Het
Hus1b	A	G	13: 30,947,001	V225A	probably benign	Het
Kmt2a	C	T	9: 44,824,635		probably benign	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mga	T	A	2: 119,941,675	V1672E	probably damaging	Het
Mios	T	C	6: 8,234,237	S803P	probably benign	Het
Mkl1	T	C	15: 81,018,208		probably benign	Het
Msh4	A	T	3: 153,863,384	Y851N	probably damaging	Het
Mybl1	A	C	1: 9,672,661		probably null	Het
Myo5c	A	G	9: 75,275,939	Y865C	probably damaging	Het
Naip1	T	C	13: 100,426,870	S596G	probably benign	Het
Nek5	G	T	8: 22,096,731	Q355K	possibly damaging	Het
Nphp3	G	T	9: 104,025,927	R701L	possibly damaging	Het
Olfr1006	T	A	2: 85,674,918	T78S	possibly damaging	Het
Olfr1023	T	A	2: 85,887,248	Y149*	probably null	Het
Olfr1052	T	C	2: 86,298,479	I221T	probably damaging	Het
Olfr1094	T	C	2: 86,829,198	S149P	probably benign	Het
Olfr666	A	T	7: 104,893,237	Y130*	probably null	Het
Palm	A	G	10: 79,815,187	N149D	possibly damaging	Het
Pot1b	T	C	17: 55,653,451	I626M	possibly damaging	Het
Ptprt	T	A	2: 161,927,484	D487V	probably damaging	Het
Qpct	A	G	17: 79,070,772	I124V	probably benign	Het
Rbm12b1	T	A	4: 12,145,817	D596E	possibly damaging	Het
Rnf157	A	G	11: 116,354,759	C277R	probably damaging	Het
Rnf169	A	G	7: 99,925,328	S687P	possibly damaging	Het
Sfxn1	T	A	13: 54,092,450		probably null	Het
Slc6a21	T	C	7: 45,272,628	V649A	probably benign	Het
Slit3	A	T	11: 35,686,299	T1120S	probably damaging	Het
Spem2	A	T	11: 69,818,070	M58K	probably benign	Het
Sprr2k	T	A	3: 92,433,396		probably benign	Het
Sspo	T	C	6: 48,463,400		probably null	Het
Sv2b	A	T	7: 75,120,043	F584I	possibly damaging	Het
Tkfc	A	T	19: 10,595,326	M317K	probably null	Het
Tnni3k	C	T	3: 155,030,305	G134S	probably benign	Het
Ttn	C	T	2: 76,739,780	R26923H	probably damaging	Het
Tuba3b	T	C	6: 145,618,453	V75A	possibly damaging	Het
Unc79	T	C	12: 103,183,525	L2626P	probably damaging	Het
Usp24	A	T	4: 106,361,933	I491F	probably damaging	Het
V1ra8	A	T	6: 90,203,150	I112F	probably damaging	Het
Vmn1r29	T	G	6: 58,307,678	F128V	probably benign	Het
Zfp157	T	A	5: 138,455,095		probably null	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
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'- GCCAATTCAGGGTGAAGGGAGTCAT -3'
(R):5'- ccaaagccaaagTGCTCTTGGGATG -3'

Sequencing Primer
(F):5'- GACAGGCTTTGTGAACCATC -3'
(R):5'- CCAGTTCAGAAGGGACTCTATGC -3'

Posted On

2014-03-28