Mutagenetix > Incidental Mutation

Incidental Mutation 'R9596:Clybl'

723301

Institutional Source

Beutler Lab

Gene Symbol

Clybl

Ensembl Gene

ENSMUSG00000025545

Gene Name

citrate lyase beta like

Synonyms

Clb, 0610033J05Rik, 2310014M14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9596 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122419116-122639646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122548768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 57 (I57L)

Ref Sequence

ENSEMBL: ENSMUSP00000026625 (fasta)

Gene Model

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

AlphaFold

Q8R4N0

Predicted Effect

probably benign
Transcript: ENSMUST00000026625
AA Change: I57L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000026625
Gene: ENSMUSG00000025545
AA Change: I57L

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	G	T	1: 74,320,262 (GRCm39)	Q355K	probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
AI661453	T	C	17: 47,780,411 (GRCm39)	S188P	unknown	Het
Atp10a	A	G	7: 58,477,553 (GRCm39)	S1251G	probably damaging	Het
Ccr10	A	G	11: 101,065,018 (GRCm39)	F171L	probably benign	Het
Clec10a	A	T	11: 70,059,973 (GRCm39)	D65V	probably damaging	Het
Col5a1	G	T	2: 27,819,551 (GRCm39)	E218*	probably null	Het
Diaph1	G	A	18: 38,024,111 (GRCm39)	P576S	unknown	Het
Dsg1c	T	A	18: 20,416,361 (GRCm39)	I754N	probably benign	Het
Fam47e	G	C	5: 92,726,395 (GRCm39)	R111P	probably benign	Het
Fastkd3	G	A	13: 68,735,806 (GRCm39)	V519M	probably damaging	Het
Fhod3	T	A	18: 25,193,392 (GRCm39)	Y634*	probably null	Het
Frem3	G	A	8: 81,341,951 (GRCm39)	V1415I	probably benign	Het
Herc2	G	A	7: 55,834,595 (GRCm39)	S3191N		Het
Kif19a	A	T	11: 114,676,752 (GRCm39)	E527V	probably benign	Het
Lmbr1	C	A	5: 29,440,105 (GRCm39)	G420*	probably null	Het
Map3k9	A	G	12: 81,777,404 (GRCm39)	S526P	probably damaging	Het
Mink1	T	A	11: 70,497,915 (GRCm39)	L506Q	possibly damaging	Het
Mroh9	T	C	1: 162,893,576 (GRCm39)	I200V	probably damaging	Het
Mrps14	T	C	1: 160,027,122 (GRCm39)	V110A	possibly damaging	Het
Mta1	A	G	12: 113,090,470 (GRCm39)	Q209R	probably damaging	Het
Mtss2	G	A	8: 111,458,689 (GRCm39)	S195N		Het
Nlgn1	T	A	3: 25,488,587 (GRCm39)	I583F	probably damaging	Het
Ntng1	T	C	3: 110,042,956 (GRCm39)		probably benign	Het
Or10w1	A	G	19: 13,632,002 (GRCm39)	S70G	probably damaging	Het
Or1p1c	C	T	11: 74,160,289 (GRCm39)	H25Y	probably benign	Het
Or2ag13	A	T	7: 106,313,412 (GRCm39)	Y159N	probably benign	Het
Or5ac25	A	G	16: 59,181,942 (GRCm39)	I213T	possibly damaging	Het
Or6c65	A	G	10: 129,603,988 (GRCm39)	T208A	probably damaging	Het
Pcdha12	A	T	18: 37,154,302 (GRCm39)	L340F	probably benign	Het
Pdk4	T	A	6: 5,491,842 (GRCm39)	M173L	probably benign	Het
Pds5a	A	G	5: 65,772,830 (GRCm39)	S1258P	probably benign	Het
Plcd1	A	T	9: 118,917,183 (GRCm39)	L22Q	probably benign	Het
Prag1	A	G	8: 36,570,113 (GRCm39)	D232G	probably damaging	Het
Rest	C	T	5: 77,423,141 (GRCm39)	T315M	probably damaging	Het
Scrn2	G	A	11: 96,923,907 (GRCm39)	V264M	probably damaging	Het
Sipa1l3	C	A	7: 29,031,691 (GRCm39)	V1513F	probably benign	Het
Skic3	T	C	13: 76,330,968 (GRCm39)	V1466A	possibly damaging	Het
Slc44a1	T	A	4: 53,544,553 (GRCm39)	N421K	probably benign	Het
Smc6	G	T	12: 11,345,045 (GRCm39)	R662I	probably damaging	Het
Spata31e5	C	A	1: 28,815,688 (GRCm39)	M781I	probably benign	Het
Srcap	T	A	7: 127,131,036 (GRCm39)	W751R	probably damaging	Het
Sv2b	A	G	7: 74,767,462 (GRCm39)	F645L	probably damaging	Het
Sycp2	A	G	2: 177,990,212 (GRCm39)		probably null	Het
Syne4	A	G	7: 30,014,504 (GRCm39)	T41A	probably benign	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Trap1	A	T	16: 3,871,374 (GRCm39)	I381N	probably damaging	Het
Tshz1	A	G	18: 84,031,904 (GRCm39)	S835P	possibly damaging	Het
Ube3b	T	A	5: 114,527,171 (GRCm39)	W130R	probably damaging	Het
Ubr5	G	A	15: 37,986,213 (GRCm39)	T2207I		Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r11	T	G	5: 109,201,563 (GRCm39)	I314L	possibly damaging	Het
Vmn2r15	T	A	5: 109,440,791 (GRCm39)	I356L	probably benign	Het
Vmn2r31	G	T	7: 7,397,292 (GRCm39)	T322N	probably benign	Het
Vmn2r8	A	T	5: 108,947,196 (GRCm39)	F519I	possibly damaging	Het
Wdr35	T	C	12: 9,036,092 (GRCm39)	F288L	probably benign	Het
Xab2	A	T	8: 3,663,018 (GRCm39)	V521D	probably damaging	Het
Zfp639	T	C	3: 32,574,269 (GRCm39)	F298S	probably damaging	Het
Zfp786	G	A	6: 47,797,406 (GRCm39)	R511*	probably null	Het
Zfp936	T	A	7: 42,839,834 (GRCm39)	C434S	probably damaging	Het
Zranb1	T	C	7: 132,552,146 (GRCm39)	F266L	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
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

Predicted Primers

PCR Primer
(F):5'- ACATGTGGACCTTTCCCACC -3'
(R):5'- TTCAGAGAAGACGCATAACAGC -3'

Sequencing Primer
(F):5'- TGGACCTTTCCCACCACCAAATAC -3'
(R):5'- CCGCTATAAATAAAGACAGAGGACG -3'

Posted On

2022-08-09