Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03071:Cby3'

417523

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cby3

Ensembl Gene

ENSMUSG00000050087

Gene Name

chibby family member 3

Synonyms

1700121K02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL03071

Quality Score

Status

Chromosome

Chromosomal Location

50248588-50250529 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50250343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 183 (D183G)

Ref Sequence

ENSEMBL: ENSMUSP00000131004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052596] [ENSMUST00000164067]

AlphaFold

Q9CVN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000052596
AA Change: D88G

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

SMART Domains

Protein: ENSMUSP00000052281
Gene: ENSMUSG00000050087
AA Change: D88G

Domain	Start	End	E-Value	Type
Pfam:Chibby	1	105	5.4e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000103251

Predicted Effect

probably damaging
Transcript: ENSMUST00000164067
AA Change: D183G

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

SMART Domains

Protein: ENSMUSP00000131004
Gene: ENSMUSG00000050087
AA Change: D183G

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC
Pfam:Chibby	76	199	1.1e-38	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	A	8: 41,278,104 (GRCm39)	L165H	probably benign	Het
Ahnak	T	C	19: 8,989,282 (GRCm39)	I3522T	possibly damaging	Het
Anks1	G	A	17: 28,227,173 (GRCm39)	A609T	probably benign	Het
Apaf1	T	C	10: 90,833,117 (GRCm39)	D1138G	possibly damaging	Het
Appl2	T	C	10: 83,476,970 (GRCm39)		probably null	Het
Arhgef19	A	T	4: 140,976,313 (GRCm39)	I385F	possibly damaging	Het
Ccdc134	G	A	15: 82,018,826 (GRCm39)	V119M	possibly damaging	Het
Ccdc180	G	T	4: 45,903,840 (GRCm39)		probably benign	Het
Clec2d	T	C	6: 129,160,165 (GRCm39)	S60P	probably benign	Het
Cts6	A	T	13: 61,350,064 (GRCm39)	F6I	probably damaging	Het
Cyyr1	G	A	16: 85,262,449 (GRCm39)	H103Y	probably damaging	Het
Dop1a	T	A	9: 86,371,668 (GRCm39)	S120T	possibly damaging	Het
Dot1l	T	C	10: 80,624,513 (GRCm39)	S994P	probably benign	Het
Eya4	T	G	10: 23,198,971 (GRCm39)	D3A	probably benign	Het
Fhip2b	A	G	14: 70,823,649 (GRCm39)	C574R	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gria1	A	T	11: 56,902,936 (GRCm39)		probably null	Het
Hectd1	T	C	12: 51,815,957 (GRCm39)	T1377A	probably benign	Het
Magi3	T	G	3: 103,923,202 (GRCm39)	K1172Q	possibly damaging	Het
Map3k1	A	C	13: 111,892,059 (GRCm39)	D1065E	possibly damaging	Het
Mindy4b-ps	A	T	3: 58,717,158 (GRCm39)	V242D	probably damaging	Het
Mrgpra3	T	C	7: 47,238,929 (GRCm39)		probably benign	Het
Mroh9	C	A	1: 162,866,766 (GRCm39)	G657C	probably damaging	Het
Ogfod1	T	C	8: 94,784,395 (GRCm39)	W318R	probably damaging	Het
Or10j5	A	G	1: 172,784,502 (GRCm39)	T47A	probably benign	Het
Pacsin3	G	A	2: 91,090,837 (GRCm39)	R48H	probably damaging	Het
Plcb1	A	G	2: 135,229,722 (GRCm39)	E1114G	probably damaging	Het
Prkdc	T	G	16: 15,617,848 (GRCm39)	D3226E	probably benign	Het
Prl4a1	A	T	13: 28,204,246 (GRCm39)	E96V	probably benign	Het
Robo4	T	C	9: 37,315,580 (GRCm39)		probably benign	Het
Scn7a	G	A	2: 66,530,291 (GRCm39)	L685F	possibly damaging	Het
Spata1	A	G	3: 146,181,089 (GRCm39)	Y290H	possibly damaging	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tifa	T	G	3: 127,590,728 (GRCm39)	Y166*	probably null	Het
Tnfsf10	G	A	3: 27,389,769 (GRCm39)	D277N	probably damaging	Het
Tram1	A	T	1: 13,649,998 (GRCm39)	Y75*	probably null	Het
Vmn1r60	T	A	7: 5,547,368 (GRCm39)	N244I	probably damaging	Het
Xpo4	A	G	14: 57,855,685 (GRCm39)	I248T	possibly damaging	Het
Zc2hc1a	A	G	3: 7,589,182 (GRCm39)		probably benign	Het
Zfp386	T	A	12: 116,022,760 (GRCm39)	H124Q	probably benign	Het

Other mutations in Cby3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Cby3	APN	11	50,248,638 (GRCm39)	splice site	probably benign
R1550:Cby3	UTSW	11	50,250,313 (GRCm39)	missense	probably damaging	1.00
R1642:Cby3	UTSW	11	50,250,343 (GRCm39)	missense	probably damaging	1.00
R3747:Cby3	UTSW	11	50,250,501 (GRCm39)	makesense	probably null
R6378:Cby3	UTSW	11	50,250,360 (GRCm39)	missense	probably damaging	0.99
R7800:Cby3	UTSW	11	50,250,175 (GRCm39)	missense	probably damaging	1.00
R7986:Cby3	UTSW	11	50,250,106 (GRCm39)	missense	possibly damaging	0.92
R8431:Cby3	UTSW	11	50,250,084 (GRCm39)	missense	probably damaging	1.00
R8545:Cby3	UTSW	11	50,250,243 (GRCm39)	missense	probably benign
R9050:Cby3	UTSW	11	50,248,617 (GRCm39)	missense	possibly damaging	0.91
R9134:Cby3	UTSW	11	50,250,153 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02