Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Cabcoco1'

262065

Institutional Source

Beutler Lab

Gene Symbol

Cabcoco1

Ensembl Gene

ENSMUSG00000019945

Gene Name

ciliary associated calcium binding coiled-coil 1

Synonyms

1700040L02Rik

MMRRC Submission

038353-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0060 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

68266783-68377726 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 68369692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020103]

AlphaFold

Q8CDT7

Predicted Effect

probably null
Transcript: ENSMUST00000020103

SMART Domains

Protein: ENSMUSP00000020103
Gene: ENSMUSG00000019945

Domain	Start	End	E-Value	Type
Pfam:CLAMP	93	192	1e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220037

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.0%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	C	11: 58,313,008 (GRCm39)		probably benign	Het
A630091E08Rik	A	G	7: 98,192,875 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,961,306 (GRCm39)	T539A	probably damaging	Het
Ankrd60	A	T	2: 173,414,406 (GRCm39)	M1K	probably null	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Capn7	T	C	14: 31,087,561 (GRCm39)		probably benign	Het
Cd109	G	A	9: 78,610,389 (GRCm39)	E1145K	probably damaging	Het
Celsr1	A	T	15: 85,806,399 (GRCm39)	V2353D	probably damaging	Het
Cep350	C	T	1: 155,804,372 (GRCm39)	D904N	probably damaging	Het
Chl1	T	A	6: 103,688,019 (GRCm39)		probably benign	Het
Colec10	G	A	15: 54,302,542 (GRCm39)		probably benign	Het
Cst11	T	A	2: 148,612,322 (GRCm39)	Q105L	probably damaging	Het
Eps8l3	T	C	3: 107,786,857 (GRCm39)	L11S	probably damaging	Het
Gsdme	A	G	6: 50,198,009 (GRCm39)	I317T	possibly damaging	Het
Itgad	T	C	7: 127,802,158 (GRCm39)	S979P	probably damaging	Het
Mga	T	C	2: 119,791,442 (GRCm39)		probably null	Het
Nubpl	T	C	12: 52,357,470 (GRCm39)		probably benign	Het
Or2b4	T	C	17: 38,116,891 (GRCm39)	L285P	probably damaging	Het
Or5be3	T	C	2: 86,864,118 (GRCm39)	Y149C	probably damaging	Het
Pard3b	G	A	1: 61,678,474 (GRCm39)	E25K	probably damaging	Het
Phactr1	T	A	13: 42,836,197 (GRCm39)	Y8*	probably null	Het
Phf14	T	C	6: 11,953,316 (GRCm39)	S352P	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Prap1	G	T	7: 139,673,390 (GRCm39)		probably benign	Het
Prdm8	T	A	5: 98,333,119 (GRCm39)	F229I	probably benign	Het
Rfx6	T	C	10: 51,553,936 (GRCm39)	F11L	probably benign	Het
Rfx8	T	A	1: 39,757,565 (GRCm39)		probably benign	Het
Rif1	C	T	2: 52,001,129 (GRCm39)	R1528C	probably damaging	Het
Ripk4	G	A	16: 97,564,718 (GRCm39)		probably benign	Het
Satb1	T	A	17: 52,047,231 (GRCm39)	I695F	probably damaging	Het
Sema4d	A	G	13: 51,859,293 (GRCm39)		probably benign	Het
Slc30a4	T	A	2: 122,527,104 (GRCm39)	T381S	probably benign	Het
Suv39h2	T	C	2: 3,465,953 (GRCm39)	Y134C	probably damaging	Het
Tcerg1	C	T	18: 42,657,073 (GRCm39)	A185V	unknown	Het
Tep1	T	A	14: 51,103,486 (GRCm39)	D268V	probably damaging	Het
Tmem89	T	A	9: 108,744,485 (GRCm39)	V126D	probably damaging	Het
Trf	T	C	9: 103,098,121 (GRCm39)	T46A	probably benign	Het
Trmt6	C	T	2: 132,648,689 (GRCm39)	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,035,006 (GRCm39)	K1625E	probably damaging	Het
Zcchc4	T	A	5: 52,964,420 (GRCm39)	I292N	possibly damaging	Het

Other mutations in Cabcoco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Cabcoco1	APN	10	68,377,635 (GRCm39)	missense	possibly damaging	0.94
IGL00644:Cabcoco1	APN	10	68,369,730 (GRCm39)	missense	probably benign	0.18
IGL02253:Cabcoco1	APN	10	68,272,107 (GRCm39)	splice site	probably null
R0629:Cabcoco1	UTSW	10	68,352,108 (GRCm39)	missense	probably damaging	1.00
R0968:Cabcoco1	UTSW	10	68,272,202 (GRCm39)	missense	probably benign	0.00
R2108:Cabcoco1	UTSW	10	68,267,153 (GRCm39)	missense	probably benign	0.04
R2154:Cabcoco1	UTSW	10	68,267,092 (GRCm39)	missense	probably damaging	1.00
R3076:Cabcoco1	UTSW	10	68,361,475 (GRCm39)	missense	possibly damaging	0.62
R3077:Cabcoco1	UTSW	10	68,361,475 (GRCm39)	missense	possibly damaging	0.62
R3872:Cabcoco1	UTSW	10	68,352,108 (GRCm39)	missense	probably damaging	1.00
R4876:Cabcoco1	UTSW	10	68,377,599 (GRCm39)	missense	probably benign
R6299:Cabcoco1	UTSW	10	68,272,720 (GRCm39)	missense	probably damaging	0.99
R6460:Cabcoco1	UTSW	10	68,352,211 (GRCm39)	missense	probably damaging	1.00
R7127:Cabcoco1	UTSW	10	68,272,160 (GRCm39)	missense	probably benign	0.26
R8509:Cabcoco1	UTSW	10	68,267,119 (GRCm39)	missense	probably damaging	1.00
R8719:Cabcoco1	UTSW	10	68,272,671 (GRCm39)	critical splice donor site	probably benign
R8911:Cabcoco1	UTSW	10	68,377,584 (GRCm39)	missense	probably benign
R9180:Cabcoco1	UTSW	10	68,272,719 (GRCm39)	missense	probably damaging	1.00
R9562:Cabcoco1	UTSW	10	68,272,725 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

Posted On

2015-02-04