Mutagenetix > Incidental Mutation

Incidental Mutation 'R3076:Cabcoco1'

265218

Institutional Source

Beutler Lab

Gene Symbol

Cabcoco1

Ensembl Gene

ENSMUSG00000019945

Gene Name

ciliary associated calcium binding coiled-coil 1

Synonyms

1700040L02Rik

MMRRC Submission

040566-MU

Accession Numbers

Essential gene?

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

Stock #

R3076 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68266783-68377726 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 68361475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 8 (Y8S)

Ref Sequence

ENSEMBL: ENSMUSP00000128895 (fasta)

Gene Model

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

AlphaFold

Q8CDT7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020103
AA Change: Y108S

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020103
Gene: ENSMUSG00000019945
AA Change: Y108S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166919
AA Change: Y8S

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128895
Gene: ENSMUSG00000019945
AA Change: Y8S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220037

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	T	5: 129,206,169 (GRCm39)	I248F	probably benign	Het
Amigo2	C	T	15: 97,143,315 (GRCm39)	R369Q	probably damaging	Het
Aopep	A	C	13: 63,387,929 (GRCm39)	D3A	probably damaging	Het
Arfgef3	T	C	10: 18,479,278 (GRCm39)	I1446V	probably damaging	Het
Ascc2	T	A	11: 4,622,446 (GRCm39)	L504Q	probably damaging	Het
Atp1a3	A	G	7: 24,679,498 (GRCm39)	V932A	possibly damaging	Het
Cct8	A	G	16: 87,285,765 (GRCm39)	V231A	possibly damaging	Het
Col18a1	T	C	10: 76,924,762 (GRCm39)	K9R	possibly damaging	Het
Dlgap3	A	G	4: 127,089,499 (GRCm39)	Y365C	probably damaging	Het
Dock3	T	C	9: 106,818,725 (GRCm39)		probably null	Het
Gtf3c4	A	T	2: 28,725,165 (GRCm39)	V189E	possibly damaging	Het
Khdc3	C	A	9: 73,010,212 (GRCm39)	F89L	probably damaging	Het
Kif14	T	G	1: 136,447,383 (GRCm39)	I1396S	possibly damaging	Het
Magi1	T	C	6: 93,734,668 (GRCm39)	Q393R	possibly damaging	Het
Med28	A	G	5: 45,679,820 (GRCm39)	T68A	possibly damaging	Het
Meis1	A	T	11: 18,961,254 (GRCm39)	N206K	probably benign	Het
Mnt	G	C	11: 74,733,936 (GRCm39)		probably benign	Het
Mrgpre	C	T	7: 143,335,033 (GRCm39)	A157T	probably benign	Het
Mtpn	C	T	6: 35,498,879 (GRCm39)	V76I	possibly damaging	Het
Nbeal2	A	T	9: 110,460,768 (GRCm39)	W1702R	probably damaging	Het
Nhsl2	C	T	X: 101,121,201 (GRCm39)	R62W	probably damaging	Het
Npr2	T	A	4: 43,640,182 (GRCm39)	Y306N	probably damaging	Het
Nrsn1	T	C	13: 25,437,542 (GRCm39)	T129A	probably benign	Het
Nrxn3	T	G	12: 89,227,186 (GRCm39)	C274G	probably damaging	Het
Nyap2	T	C	1: 81,219,686 (GRCm39)		probably null	Het
Or1e29	G	A	11: 73,667,466 (GRCm39)	P229L	possibly damaging	Het
Or1o11	T	C	17: 37,756,375 (GRCm39)		probably benign	Het
Phldb2	T	C	16: 45,645,373 (GRCm39)	T403A	probably benign	Het
Plaa	T	C	4: 94,458,042 (GRCm39)	I643V	probably benign	Het
Ptprb	T	C	10: 116,179,931 (GRCm39)	S1450P	probably damaging	Het
Sh2d2a	T	C	3: 87,759,477 (GRCm39)	I296T	probably benign	Het
Shtn1	T	C	19: 58,983,518 (GRCm39)	E471G	probably damaging	Het
St7	T	G	6: 17,846,237 (GRCm39)	Y163*	probably null	Het
Svil	T	C	18: 5,116,055 (GRCm39)	S1623P	probably damaging	Het
Ugcg	T	G	4: 59,213,922 (GRCm39)	V168G	probably damaging	Het
Vmn1r223	G	A	13: 23,434,335 (GRCm39)	A310T	probably benign	Het
Zfp647	A	T	15: 76,802,209 (GRCm39)	M1K	probably null	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
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

PCR Primer
(F):5'- AATGAGAAATGAGCTGCCCCG -3'
(R):5'- TGCTTTCAAAACTTCCGGAGAC -3'

Sequencing Primer
(F):5'- TGCCCCGGTTGTATCTAAGAAAC -3'
(R):5'- TCAAAACTTCCGGAGACTGTTC -3'

Posted On

2015-02-05