Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03111:Clybl'

419177

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clybl

Ensembl Gene

ENSMUSG00000025545

Gene Name

citrate lyase beta like

Synonyms

Clb, 0610033J05Rik, 2310014M14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03111

Quality Score

Status

Chromosome

Chromosomal Location

122419116-122639646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122639395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 320 (P320S)

Ref Sequence

ENSEMBL: ENSMUSP00000026625 (fasta)

Gene Model

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

AlphaFold

Q8R4N0

Predicted Effect

probably damaging
Transcript: ENSMUST00000026625
AA Change: P320S

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

SMART Domains

Protein: ENSMUSP00000026625
Gene: ENSMUSG00000025545
AA Change: P320S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228409

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aftph	T	C	11: 20,676,040 (GRCm39)	D523G	probably benign	Het
Alkbh1	A	C	12: 87,480,907 (GRCm39)	H176Q	probably damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Arid4a	G	A	12: 71,086,740 (GRCm39)	A193T	probably damaging	Het
Cdkal1	A	G	13: 29,538,684 (GRCm39)	S492P	possibly damaging	Het
Cep170b	C	T	12: 112,701,613 (GRCm39)	T164I	probably damaging	Het
Chst1	T	C	2: 92,443,692 (GRCm39)	Y55H	possibly damaging	Het
Cpne9	T	C	6: 113,277,571 (GRCm39)	I430T	possibly damaging	Het
Cyc1	T	G	15: 76,229,072 (GRCm39)	S113A	probably benign	Het
Cyp4b1	C	T	4: 115,493,066 (GRCm39)		probably benign	Het
Dpysl3	T	C	18: 43,462,910 (GRCm39)	D489G	probably damaging	Het
Epha3	T	C	16: 63,473,809 (GRCm39)	D15G	probably damaging	Het
Ephb4	C	A	5: 137,370,767 (GRCm39)	F933L	probably benign	Het
Fan1	A	T	7: 63,999,816 (GRCm39)	D856E	possibly damaging	Het
Gabra6	T	A	11: 42,207,844 (GRCm39)	D208V	probably damaging	Het
Kif3b	T	A	2: 153,171,988 (GRCm39)	S719R	probably benign	Het
Ldhd	A	C	8: 112,353,797 (GRCm39)	C439G	probably damaging	Het
Lipo3	C	T	19: 33,559,637 (GRCm39)	V78I	probably damaging	Het
Mterf2	A	T	10: 84,955,786 (GRCm39)	Y279*	probably null	Het
Myo9a	G	T	9: 59,734,526 (GRCm39)	A703S	probably benign	Het
Ndst3	T	A	3: 123,465,745 (GRCm39)	T76S	possibly damaging	Het
Nlrp4f	A	T	13: 65,330,816 (GRCm39)	L859Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,978 (GRCm38)		noncoding transcript	Het
Or1s2	T	A	19: 13,758,343 (GRCm39)	Y122*	probably null	Het
Or51g2	G	A	7: 102,622,738 (GRCm39)	R154C	probably damaging	Het
Or6c215	G	A	10: 129,637,947 (GRCm39)	T149I	probably benign	Het
Osgin1	A	T	8: 120,169,788 (GRCm39)	K113M	probably damaging	Het
Plcb4	T	A	2: 135,818,202 (GRCm39)	Y823N	probably damaging	Het
Prg4	T	C	1: 150,327,653 (GRCm39)	I856V	probably benign	Het
Pxdn	T	A	12: 30,032,755 (GRCm39)	S180T	probably damaging	Het
Skint9	T	A	4: 112,248,921 (GRCm39)	N169I	probably benign	Het
Slc24a1	T	C	9: 64,833,608 (GRCm39)	T996A	probably damaging	Het
Tbc1d20	T	C	2: 152,149,998 (GRCm39)	Y91H	probably damaging	Het
Tbc1d9b	A	G	11: 50,049,369 (GRCm39)	Y772C	probably damaging	Het
Thbd	T	A	2: 148,248,392 (GRCm39)	E492V	probably benign	Het
Thra	A	G	11: 98,651,855 (GRCm39)		probably benign	Het
Tmem131	A	G	1: 36,867,225 (GRCm39)	S403P	probably damaging	Het
Zfp455	T	C	13: 67,356,063 (GRCm39)	S444P	probably benign	Het
Zfp946	A	G	17: 22,673,537 (GRCm39)	H97R	possibly damaging	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
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
R8055:Clybl	UTSW	14	122,615,273 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02