Mutagenetix > Incidental Mutation

Incidental Mutation 'R8055:Clybl'

619339

Institutional Source

Beutler Lab

Gene Symbol

Clybl

Ensembl Gene

ENSMUSG00000025545

Gene Name

citrate lyase beta like

Synonyms

Clb, 0610033J05Rik, 2310014M14Rik

MMRRC Submission

067492-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8055 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122419116-122639646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122615273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 204 (D204E)

Ref Sequence

ENSEMBL: ENSMUSP00000026625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026625]

AlphaFold

Q8R4N0

Predicted Effect

probably damaging
Transcript: ENSMUST00000026625
AA Change: D204E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026625
Gene: ENSMUSG00000025545
AA Change: D204E

Domain	Start	End	E-Value	Type
Pfam:HpcH_HpaI	44	272	1.4e-51	PFAM
Pfam:C-C_Bond_Lyase	218	334	2.9e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1b	C	A	3: 92,336,139 (GRCm39)	G188W	unknown	Het
Ahcyl1	A	T	3: 107,576,047 (GRCm39)	D353E	probably benign	Het
Alk	G	T	17: 72,206,252 (GRCm39)	P1033T	probably benign	Het
Asb15	G	T	6: 24,556,565 (GRCm39)	C20F	probably benign	Het
BC049715	A	G	6: 136,816,913 (GRCm39)	N51S	possibly damaging	Het
Ccser1	G	A	6: 61,290,757 (GRCm39)	V480M	possibly damaging	Het
Cep295	T	C	9: 15,244,905 (GRCm39)	N1184D	probably benign	Het
Cers6	C	T	2: 68,777,625 (GRCm39)	R111W	probably damaging	Het
Cxcl13	T	C	5: 96,107,763 (GRCm39)	V73A	probably benign	Het
Dchs2	A	G	3: 83,037,032 (GRCm39)	N593S	probably benign	Het
Esco2	A	T	14: 66,069,168 (GRCm39)	N47K	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fmo4	T	C	1: 162,636,015 (GRCm39)	T46A	probably benign	Het
Gm15217	T	C	14: 46,616,911 (GRCm39)		probably benign	Het
Gnb5	G	T	9: 75,250,826 (GRCm39)	A317S	probably benign	Het
Klf14	A	G	6: 30,934,722 (GRCm39)	V304A	probably benign	Het
Klrc2	A	T	6: 129,633,424 (GRCm39)	C209*	probably null	Het
Kmt2a	A	T	9: 44,732,378 (GRCm39)	N2646K	unknown	Het
Krt14	C	G	11: 100,095,584 (GRCm39)	V274L	possibly damaging	Het
Myo16	A	T	8: 10,612,186 (GRCm39)	D1277V	unknown	Het
Myo9a	A	T	9: 59,814,743 (GRCm39)	E2226D	probably damaging	Het
Osbpl8	T	C	10: 111,120,255 (GRCm39)	V631A	possibly damaging	Het
Piezo2	G	A	18: 63,175,882 (GRCm39)	S1833L	probably damaging	Het
Pkp4	T	C	2: 59,138,359 (GRCm39)	V203A	probably benign	Het
Primpol	T	C	8: 47,032,197 (GRCm39)	D459G	probably benign	Het
Prkdc	G	T	16: 15,634,749 (GRCm39)	R3631S	probably benign	Het
Rbbp8nl	T	C	2: 179,920,001 (GRCm39)	T558A	probably benign	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rdx	G	A	9: 51,997,724 (GRCm39)	R566Q	probably damaging	Het
Rhbdf2	A	C	11: 116,498,191 (GRCm39)	S3A	probably benign	Het
Rpap1	A	T	2: 119,595,284 (GRCm39)	I1319N	probably benign	Het
Sbno2	T	A	10: 79,905,265 (GRCm39)	I206F	possibly damaging	Het
Scn1a	A	G	2: 66,149,845 (GRCm39)	V944A	probably damaging	Het
Scube1	C	T	15: 83,543,226 (GRCm39)		probably null	Het
Slc22a20	G	A	19: 6,021,439 (GRCm39)	A521V	probably benign	Het
Slc6a4	C	A	11: 76,901,424 (GRCm39)	T53K	probably benign	Het
Snapc2	G	A	8: 4,304,322 (GRCm39)	R75Q	probably damaging	Het
Sptan1	A	T	2: 29,884,351 (GRCm39)	K662I	probably benign	Het
Sycp3	T	C	10: 88,298,438 (GRCm39)	S55P	probably damaging	Het
Tet2	A	T	3: 133,173,753 (GRCm39)	V1503D	possibly damaging	Het
Tfrc	T	A	16: 32,437,474 (GRCm39)	N277K	probably benign	Het
Tlx3	A	T	11: 33,151,283 (GRCm39)	V291E	probably damaging	Het
Tnk1	A	T	11: 69,747,327 (GRCm39)	H101Q	probably benign	Het
Tns3	A	T	11: 8,495,343 (GRCm39)	D70E	probably damaging	Het
Trip11	C	A	12: 101,803,924 (GRCm39)	G1938C	probably damaging	Het
Tubg1	T	C	11: 101,014,828 (GRCm39)	L190P	probably damaging	Het
Vmn2r79	A	T	7: 86,686,541 (GRCm39)	S641C	possibly damaging	Het
Wnt8b	A	G	19: 44,481,952 (GRCm39)		probably benign	Het

Other mutations in Clybl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Clybl	APN	14	122,616,610 (GRCm39)	splice site	probably benign
IGL01380:Clybl	APN	14	122,616,761 (GRCm39)	missense	probably benign	0.04
IGL01589:Clybl	APN	14	122,608,834 (GRCm39)	missense	probably damaging	1.00
IGL02043:Clybl	APN	14	122,616,664 (GRCm39)	missense	probably damaging	1.00
IGL03111:Clybl	APN	14	122,639,395 (GRCm39)	missense	probably damaging	1.00
IGL03328:Clybl	APN	14	122,639,406 (GRCm39)	missense	probably damaging	0.99
R2104:Clybl	UTSW	14	122,548,718 (GRCm39)	missense	probably damaging	1.00
R4869:Clybl	UTSW	14	122,621,618 (GRCm39)	missense	probably damaging	1.00
R5067:Clybl	UTSW	14	122,616,701 (GRCm39)	missense	possibly damaging	0.77
R5138:Clybl	UTSW	14	122,608,716 (GRCm39)	missense	possibly damaging	0.46
R5255:Clybl	UTSW	14	122,621,691 (GRCm39)	missense	probably benign	0.02
R5620:Clybl	UTSW	14	122,548,755 (GRCm39)	missense	probably damaging	0.97
R6982:Clybl	UTSW	14	122,639,359 (GRCm39)	missense	probably damaging	1.00
R7162:Clybl	UTSW	14	122,608,732 (GRCm39)	nonsense	probably null
R8837:Clybl	UTSW	14	122,419,194 (GRCm39)	critical splice donor site	probably null
R9071:Clybl	UTSW	14	122,608,697 (GRCm39)	missense	probably benign	0.03
R9183:Clybl	UTSW	14	122,639,387 (GRCm39)	missense	probably damaging	1.00
R9209:Clybl	UTSW	14	122,621,670 (GRCm39)	missense	probably benign	0.20
R9318:Clybl	UTSW	14	122,608,815 (GRCm39)	missense	probably damaging	1.00
R9596:Clybl	UTSW	14	122,548,768 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGAAGATCTCAGTTTGTCTTAGCC -3'
(R):5'- TGTCATGAAAAGGCACCATCG -3'

Sequencing Primer
(F):5'- ATCTCAGTTTGTCTTAGCCTAAGTG -3'
(R):5'- TCGGGGCTAGCAAATACAC -3'

Posted On

2020-01-23