Mutagenetix > Incidental Mutation

Incidental Mutation 'R8509:Cabcoco1'

655765

Institutional Source

Beutler Lab

Gene Symbol

Cabcoco1

Ensembl Gene

ENSMUSG00000019945

Gene Name

ciliary associated calcium binding coiled-coil 1

Synonyms

1700040L02Rik

MMRRC Submission

067944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8509 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68266783-68377726 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68267119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 296 (E296G)

Ref Sequence

ENSEMBL: ENSMUSP00000020103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020103] [ENSMUST00000166919]

AlphaFold

Q8CDT7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020103
AA Change: E296G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020103
Gene: ENSMUSG00000019945
AA Change: E296G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166919
AA Change: E196G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128895
Gene: ENSMUSG00000019945
AA Change: E196G

Domain	Start	End	E-Value	Type
Pfam:CLAMP	1	94	1.2e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	C	7: 115,703,669 (GRCm39)	S181P	possibly damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
Ano3	T	C	2: 110,496,180 (GRCm39)	E858G	possibly damaging	Het
Asrgl1	T	C	19: 9,091,590 (GRCm39)	K244E	probably damaging	Het
BC048679	T	A	7: 81,145,116 (GRCm39)	T82S	probably benign	Het
Brip1	A	T	11: 86,088,774 (GRCm39)	C42*	probably null	Het
Ccnb1ip1	T	C	14: 51,029,714 (GRCm39)	N116S	probably benign	Het
Cep95	A	G	11: 106,695,876 (GRCm39)	E214G	probably benign	Het
Cyp11b1	A	G	15: 74,711,202 (GRCm39)	F159L	possibly damaging	Het
Dmxl2	C	A	9: 54,335,341 (GRCm39)	E660*	probably null	Het
Dnah14	C	T	1: 181,642,220 (GRCm39)	T112M		Het
Fancd2	A	G	6: 113,549,531 (GRCm39)	T74A	probably benign	Het
Fat4	G	T	3: 39,036,052 (GRCm39)	V3235L	probably benign	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gmcl1	A	C	6: 86,699,589 (GRCm39)	I146S	probably damaging	Het
Hbb-bs	T	A	7: 103,475,919 (GRCm39)	K133*	probably null	Het
Hey1	G	C	3: 8,729,836 (GRCm39)	A207G	probably benign	Het
Hmcn1	T	A	1: 150,449,302 (GRCm39)	K5446*	probably null	Het
Hyal6	A	T	6: 24,734,605 (GRCm39)	E179D	probably damaging	Het
Inpp5b	T	A	4: 124,637,698 (GRCm39)		probably null	Het
Lrba	A	G	3: 86,255,483 (GRCm39)	K942E	probably benign	Het
Lrrcc1	A	G	3: 14,601,567 (GRCm39)	N110S	probably damaging	Het
Mcoln3	A	G	3: 145,830,647 (GRCm39)	I126V	probably benign	Het
Ncoa7	T	C	10: 30,572,048 (GRCm39)	I242V	probably benign	Het
Ndufb4	A	G	16: 37,469,506 (GRCm39)	I66T	probably benign	Het
Npffr2	T	C	5: 89,731,188 (GRCm39)	S373P	possibly damaging	Het
Or5d20-ps1	T	C	2: 87,931,866 (GRCm39)	Y155C	probably benign	Het
Pi4ka	A	T	16: 17,172,008 (GRCm39)	I579N		Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ripk2	T	C	4: 16,124,436 (GRCm39)	E424G	probably benign	Het
Rnf19b	T	A	4: 128,967,369 (GRCm39)	C304S	probably damaging	Het
Rtp1	T	C	16: 23,248,064 (GRCm39)	W46R	probably damaging	Het
Ryr2	A	G	13: 11,592,664 (GRCm39)		probably null	Het
Sbf1	A	T	15: 89,177,660 (GRCm39)	D1674E	probably damaging	Het
Sgf29	T	A	7: 126,270,834 (GRCm39)		probably benign	Het
Slc22a8	T	C	19: 8,585,339 (GRCm39)		probably null	Het
Smg6	T	C	11: 74,932,702 (GRCm39)	S998P	probably benign	Het
Spata31h1	A	G	10: 82,126,950 (GRCm39)	V2020A	probably benign	Het
Srgap3	G	A	6: 112,708,297 (GRCm39)	Q801*	probably null	Het
Taf4b	A	G	18: 15,031,112 (GRCm39)	D832G	probably damaging	Het
Trim12a	T	C	7: 103,955,234 (GRCm39)	D163G	probably benign	Het
Trim46	A	G	3: 89,153,020 (GRCm39)		probably null	Het
Trpm4	A	G	7: 44,971,785 (GRCm39)	V274A	probably damaging	Het
Unc80	A	G	1: 66,680,788 (GRCm39)	D2128G	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
R0060:Cabcoco1	UTSW	10	68,369,692 (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
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

PCR Primer
(F):5'- GGATAACCGGAAGTGGGTTTTC -3'
(R):5'- TGGAACACAGCTCTGTCTG -3'

Sequencing Primer
(F):5'- CCTTTCTCGGACTGCATGGAAG -3'
(R):5'- CACGGGGGATAATGTCTGTC -3'

Posted On

2020-10-20