Mutagenetix > Incidental Mutation

Incidental Mutation 'R7026:Cibar2'

545961

Institutional Source

Beutler Lab

Gene Symbol

Cibar2

Ensembl Gene

ENSMUSG00000042269

Gene Name

CBY1 interacting BAR domain containing 2

Synonyms

1700120B06Rik, Fam92b

MMRRC Submission

045127-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.837) question?

Stock #

R7026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120893136-120904205 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120895324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 193 (H193Y)

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 damaging
Transcript: ENSMUST00000048786
AA Change: H193Y

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

SMART Domains

Protein: ENSMUSP00000038825
Gene: ENSMUSG00000042269
AA Change: H193Y

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,805,392 (GRCm39)	M749L	probably benign	Het
Abcc2	A	G	19: 43,818,974 (GRCm39)	N1321S	probably benign	Het
Acsm2	T	A	7: 119,191,450 (GRCm39)	V506E	probably damaging	Het
Add2	G	A	6: 86,063,965 (GRCm39)	R88Q	probably benign	Het
Adgra3	A	G	5: 50,118,083 (GRCm39)	V1155A	probably benign	Het
Ahsg	T	A	16: 22,710,963 (GRCm39)	D33E	probably damaging	Het
Alox12b	A	T	11: 69,048,131 (GRCm39)	D20V	possibly damaging	Het
Alppl2	A	G	1: 87,017,420 (GRCm39)		probably null	Het
Ankfn1	A	G	11: 89,530,403 (GRCm39)	*49Q	probably null	Het
Bcl11b	T	C	12: 107,882,851 (GRCm39)	D488G	probably damaging	Het
Bcl2l10	T	A	9: 75,258,364 (GRCm39)	F175L	probably benign	Het
C2cd3	T	A	7: 100,081,299 (GRCm39)	D127E	probably damaging	Het
Cacna1c	C	T	6: 118,614,732 (GRCm39)	V1311I	probably damaging	Het
Cd55b	A	T	1: 130,316,427 (GRCm39)	I374K	probably benign	Het
Cfap36	T	C	11: 29,172,565 (GRCm39)	T267A	probably benign	Het
Cog1	T	C	11: 113,540,415 (GRCm39)	L10P	probably damaging	Het
Dnah7a	T	A	1: 53,543,448 (GRCm39)	M2241L	probably benign	Het
Dock10	G	T	1: 80,479,504 (GRCm39)	A1809E	probably benign	Het
Dock7	A	T	4: 98,967,156 (GRCm39)	D255E	probably benign	Het
Exph5	T	C	9: 53,251,728 (GRCm39)	F123L	probably benign	Het
Fbxw27	C	A	9: 109,617,146 (GRCm39)	K118N	possibly damaging	Het
Fscb	C	A	12: 64,518,391 (GRCm39)	S1025I	unknown	Het
Get4	C	T	5: 139,238,358 (GRCm39)	R47W	possibly damaging	Het
Gm3676	G	A	14: 41,366,072 (GRCm39)	S81F	probably benign	Het
Gulp1	C	T	1: 44,820,245 (GRCm39)	P251S	possibly damaging	Het
Hhatl	T	C	9: 121,617,339 (GRCm39)	D298G	probably benign	Het
Hsf2bp	T	A	17: 32,252,254 (GRCm39)	K60N	possibly damaging	Het
Ints4	T	A	7: 97,168,361 (GRCm39)	V625D	possibly damaging	Het
Iqch	T	A	9: 63,432,421 (GRCm39)	K286*	probably null	Het
Irak1bp1	T	A	9: 82,712,084 (GRCm39)	S2T	possibly damaging	Het
Kdm3b	G	A	18: 34,955,517 (GRCm39)	V1135I	possibly damaging	Het
Lama3	C	A	18: 12,649,605 (GRCm39)	N181K	probably damaging	Het
Lrfn2	T	G	17: 49,404,005 (GRCm39)	S709R	probably benign	Het
Lrp12	T	C	15: 39,743,566 (GRCm39)	H123R	probably damaging	Het
Lrp1b	A	G	2: 41,159,234 (GRCm39)	S1569P	probably damaging	Het
Lrp2	T	G	2: 69,352,131 (GRCm39)	Q635P	probably damaging	Het
Mboat2	T	C	12: 24,998,381 (GRCm39)		probably null	Het
Mctp1	A	G	13: 76,954,378 (GRCm39)	T596A	probably benign	Het
Mroh9	T	A	1: 162,888,251 (GRCm39)	M275L	probably benign	Het
Ms4a10	A	C	19: 10,944,869 (GRCm39)		probably null	Het
Myo9a	C	T	9: 59,722,617 (GRCm39)	R560C	probably damaging	Het
Or11h4b	A	G	14: 50,918,716 (GRCm39)	I125T	probably damaging	Het
Or5b107	A	G	19: 13,142,779 (GRCm39)	T134A	probably benign	Het
Or6z1	T	A	7: 6,504,820 (GRCm39)	H135L	probably damaging	Het
Ormdl3	A	G	11: 98,474,808 (GRCm39)	V45A	possibly damaging	Het
Parp4	T	C	14: 56,858,049 (GRCm39)	Y894H	probably benign	Het
Pigo	G	A	4: 43,023,380 (GRCm39)	Q259*	probably null	Het
Prrc2a	G	A	17: 35,380,803 (GRCm39)	P70S	unknown	Het
Rab3ip	A	G	10: 116,773,441 (GRCm39)	I124T	probably benign	Het
Rap1b	A	G	10: 117,654,384 (GRCm39)	I21T	probably benign	Het
Rasgrf2	T	A	13: 92,131,732 (GRCm39)	S642C	probably damaging	Het
Rb1	T	C	14: 73,535,539 (GRCm39)	E106G	probably benign	Het
Reps1	C	A	10: 17,983,437 (GRCm39)	R427S	probably damaging	Het
Rnf213	A	C	11: 119,370,481 (GRCm39)	H4760P	possibly damaging	Het
Rtl1	A	G	12: 109,559,595 (GRCm39)	I748T	probably damaging	Het
Sco1	A	T	11: 66,944,683 (GRCm39)	K102M	probably damaging	Het
Sec16b	T	C	1: 157,362,281 (GRCm39)	M44T	possibly damaging	Het
Slc7a10	T	C	7: 34,898,139 (GRCm39)	M297T	probably damaging	Het
Smchd1	T	C	17: 71,656,662 (GRCm39)	H1935R	probably benign	Het
Sowaha	G	A	11: 53,370,050 (GRCm39)	R229W	probably damaging	Het
Sptlc3	A	T	2: 139,379,608 (GRCm39)	M83L	probably benign	Het
Tbc1d9	T	C	8: 83,968,192 (GRCm39)	V431A	probably benign	Het
Tmem98	A	G	11: 80,712,214 (GRCm39)	E217G	possibly damaging	Het
Trim13	T	A	14: 61,842,562 (GRCm39)	L193*	probably null	Het
Trp53bp2	T	C	1: 182,270,300 (GRCm39)	S367P	probably benign	Het
Tsc2	T	G	17: 24,845,713 (GRCm39)	I202L	probably damaging	Het
Twf2	T	A	9: 106,092,079 (GRCm39)	V312E	probably damaging	Het
Usp34	G	T	11: 23,311,622 (GRCm39)	L471F	probably damaging	Het
Vps37c	A	G	19: 10,683,632 (GRCm39)	D18G	probably damaging	Het
Zfp1010	T	A	2: 176,957,361 (GRCm39)	I46F	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
IGL02045:Cibar2	APN	8	120,896,461 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GAGAAAGATTCCCCAGCAGG -3'
(R):5'- CTAGGAACTGGTGCAGGCTTAG -3'

Sequencing Primer
(F):5'- CCAGCAGGGGTGGCACC -3'
(R):5'- CGAGAGGTATTTTAAACAGCCACTG -3'

Posted On

2019-05-13