Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02045:Cibar2'

184914

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cibar2

Ensembl Gene

ENSMUSG00000042269

Gene Name

CBY1 interacting BAR domain containing 2

Synonyms

1700120B06Rik, Fam92b

Accession Numbers

Essential gene?

Probably essential (E-score: 0.837) question?

Stock #

IGL02045

Quality Score

Status

Chromosome

Chromosomal Location

120893136-120904205 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 120896461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 174 (K174*)

Ref Sequence

ENSEMBL: ENSMUSP00000038825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034281] [ENSMUST00000048786] [ENSMUST00000108951] [ENSMUST00000127664] [ENSMUST00000135567]

AlphaFold

Q3V2J0

Predicted Effect

probably benign
Transcript: ENSMUST00000034281

SMART Domains

Protein: ENSMUSP00000034281
Gene: ENSMUSG00000031824

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000048786
AA Change: K174*

SMART Domains

Protein: ENSMUSP00000038825
Gene: ENSMUSG00000042269
AA Change: K174*

Domain	Start	End	E-Value	Type
Pfam:FAM92	1	217	4.8e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108951

SMART Domains

Protein: ENSMUSP00000104579
Gene: ENSMUSG00000031824

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
low complexity region	68	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135567

SMART Domains

Protein: ENSMUSP00000134033
Gene: ENSMUSG00000042269

Domain	Start	End	E-Value	Type
Pfam:FAM92	1	95	2e-21	PFAM
low complexity region	98	108	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212268

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	A	5: 114,378,721 (GRCm39)	H2044Q	possibly damaging	Het
Ankrd12	A	T	17: 66,293,244 (GRCm39)	S730T	probably benign	Het
Ano9	A	T	7: 140,682,382 (GRCm39)	N655K	probably benign	Het
Ap1ar	A	T	3: 127,609,298 (GRCm39)	Y108N	probably damaging	Het
Asap3	A	G	4: 135,954,752 (GRCm39)	I55V	probably benign	Het
Barx2	T	C	9: 31,770,094 (GRCm39)	T145A	probably damaging	Het
Camta1	T	C	4: 151,158,442 (GRCm39)		probably null	Het
Ces2e	C	T	8: 105,657,290 (GRCm39)		probably benign	Het
Cflar	T	C	1: 58,791,903 (GRCm39)	I405T	probably benign	Het
Cyp51	A	G	5: 4,133,247 (GRCm39)	S464P	probably damaging	Het
Ermard	G	A	17: 15,271,826 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,707,841 (GRCm39)	T49A	probably benign	Het
Gls	A	G	1: 52,258,674 (GRCm39)	V198A	probably benign	Het
Heatr5b	A	T	17: 79,115,855 (GRCm39)	I867N	probably damaging	Het
Ighv1-14	A	T	12: 114,610,334 (GRCm39)		noncoding transcript	Het
Iqsec1	T	C	6: 90,641,051 (GRCm39)	K1022E	probably damaging	Het
Myo10	A	G	15: 25,726,574 (GRCm39)	T299A	probably benign	Het
Nr2e3	A	T	9: 59,856,291 (GRCm39)	M82K	probably benign	Het
Ntpcr	A	G	8: 126,472,191 (GRCm39)		probably benign	Het
Or1e26	A	G	11: 73,480,058 (GRCm39)	C169R	probably damaging	Het
Or4d10b	T	C	19: 12,036,253 (GRCm39)	T288A	possibly damaging	Het
Or52s6	A	G	7: 103,092,159 (GRCm39)	L57P	probably damaging	Het
Or5p80	A	G	7: 108,229,739 (GRCm39)	D180G	probably damaging	Het
Or6c70	A	T	10: 129,710,091 (GRCm39)	D178E	probably benign	Het
Prkcb	A	G	7: 122,189,390 (GRCm39)	D506G	probably damaging	Het
Rasgef1a	A	G	6: 118,066,404 (GRCm39)	I470V	probably benign	Het
Rbm27	A	G	18: 42,452,978 (GRCm39)	E514G	possibly damaging	Het
Rgs22	G	A	15: 36,013,300 (GRCm39)	A1048V	probably benign	Het
Secisbp2l	A	G	2: 125,617,498 (GRCm39)	F60L	possibly damaging	Het
Six4	T	C	12: 73,155,429 (GRCm39)	S505G	probably benign	Het
Skint1	T	A	4: 111,882,727 (GRCm39)	V257E	possibly damaging	Het
Smad9	A	G	3: 54,693,593 (GRCm39)	N174S	possibly damaging	Het
Smc2	A	G	4: 52,462,914 (GRCm39)	N635D	probably benign	Het
Stradb	T	A	1: 59,028,937 (GRCm39)	I135N	probably damaging	Het
Syt12	T	C	19: 4,497,762 (GRCm39)	T407A	probably damaging	Het
Tmc8	T	A	11: 117,677,346 (GRCm39)	I322N	probably damaging	Het
Tnip1	A	C	11: 54,802,365 (GRCm39)	*648G	probably null	Het
Ttc3	T	C	16: 94,210,540 (GRCm39)		probably benign	Het

Other mutations in Cibar2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Cibar2	APN	8	120,893,429 (GRCm39)	missense	probably benign	0.00
IGL02437:Cibar2	APN	8	120,901,525 (GRCm39)	missense	probably damaging	1.00
IGL02796:Cibar2	UTSW	8	120,904,138 (GRCm39)	utr 5 prime	probably benign
R1061:Cibar2	UTSW	8	120,896,443 (GRCm39)	critical splice donor site	probably null
R2285:Cibar2	UTSW	8	120,895,276 (GRCm39)	missense	probably benign	0.01
R3714:Cibar2	UTSW	8	120,901,576 (GRCm39)	missense	probably damaging	1.00
R3831:Cibar2	UTSW	8	120,901,633 (GRCm39)	missense	probably damaging	1.00
R4432:Cibar2	UTSW	8	120,901,594 (GRCm39)	missense	probably damaging	1.00
R5431:Cibar2	UTSW	8	120,894,042 (GRCm39)	critical splice donor site	probably null
R6280:Cibar2	UTSW	8	120,898,858 (GRCm39)	missense	possibly damaging	0.75
R7026:Cibar2	UTSW	8	120,895,324 (GRCm39)	missense	probably damaging	1.00
R7233:Cibar2	UTSW	8	120,898,661 (GRCm39)	missense	probably damaging	1.00
R7278:Cibar2	UTSW	8	120,895,342 (GRCm39)	missense	possibly damaging	0.63
R7334:Cibar2	UTSW	8	120,901,589 (GRCm39)	missense	probably damaging	0.99
R7840:Cibar2	UTSW	8	120,893,372 (GRCm39)	missense	probably benign	0.32
R9585:Cibar2	UTSW	8	120,901,450 (GRCm39)	missense	probably null	0.87

Posted On

2014-05-07