Mutagenetix > Incidental Mutation

Incidental Mutation 'R4002:Keg1'

311328

Institutional Source

Beutler Lab

Gene Symbol

Keg1

Ensembl Gene

ENSMUSG00000024694

Gene Name

kidney expressed gene 1

Synonyms

0610008P16Rik, GS4059

MMRRC Submission

041609-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12695786-12719902 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12718943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 164 (S164T)

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: S217T

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: S217T

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: S207T

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694
AA Change: S207T

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

possibly damaging
Transcript: ENSMUST00000154822
AA Change: S164T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: S164T

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (29/30)

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,625,540	N222K	possibly damaging	Het
Abca13	A	T	11: 9,585,415	M4680L	probably benign	Het
Adgrv1	GA	GAA	13: 81,540,132		probably null	Het
Afdn	T	C	17: 13,883,917	S1157P	probably damaging	Het
Ank1	A	G	8: 23,139,463	T63A	probably damaging	Het
Asah1	A	G	8: 41,348,139		probably benign	Het
Cdh18	T	A	15: 23,382,962	L277I	possibly damaging	Het
Ces3a	A	T	8: 105,057,461	D431V	probably damaging	Het
Dbx1	T	C	7: 49,636,517	S67G	probably benign	Het
Dmxl2	A	G	9: 54,473,832		probably benign	Het
Dnah7a	T	A	1: 53,631,681	T471S	probably benign	Het
Efcab8	A	T	2: 153,781,806	K70N	probably benign	Het
Gm5434	G	A	12: 36,090,636		probably benign	Het
Grcc10	A	T	6: 124,740,970	M1K	probably null	Het
Higd2a	G	C	13: 54,590,727	C53S	probably damaging	Het
Kcna4	C	T	2: 107,295,914	P331L	probably damaging	Het
Ltbp1	T	C	17: 75,310,159	V1031A	probably benign	Het
Obsl1	G	A	1: 75,500,099	T737I	possibly damaging	Het
Olfr129	G	A	17: 38,054,988	L193F	probably damaging	Het
Olfr853	C	T	9: 19,537,906	R8K	probably benign	Het
Olfr855	T	G	9: 19,584,714	M59R	probably damaging	Het
Serpinb6d	A	G	13: 33,670,647	M202V	probably damaging	Het
Tcf19	A	G	17: 35,515,925		probably null	Het
Tlr11	T	C	14: 50,362,527	F657L	probably benign	Het
Ttf2	G	A	3: 100,948,225	Q96*	probably null	Het
Zbbx	C	T	3: 75,105,671	G151E	probably damaging	Het
Zfp810	C	T	9: 22,278,892	C240Y	probably 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
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'- TGTTCTCAATAGTGACCAGCAG -3'
(R):5'- GTTCCACTGGTTCCAGGTAC -3'

Sequencing Primer
(F):5'- GACCAGCAGTTATTCAAATTTGCCTC -3'
(R):5'- ACTGGTTCCAGGTACAAGGC -3'

Posted On

2015-04-29