Mutagenetix > Incidental Mutation

Incidental Mutation 'R7076:Ccp110'

549219

Institutional Source

Beutler Lab

Gene Symbol

Ccp110

Ensembl Gene

ENSMUSG00000033904

Gene Name

centriolar coiled coil protein 110

Synonyms

6330503K22Rik, CP110

MMRRC Submission

045171-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R7076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118311775-118336247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118331628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 943 (P943Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038650] [ENSMUST00000106557]

AlphaFold

Q7TSH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000038650
AA Change: P943Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038881
Gene: ENSMUSG00000033904
AA Change: P943Q

Domain	Start	End	E-Value	Type
Pfam:CALM_bind	29	135	7.4e-21	PFAM
low complexity region	241	253	N/A	INTRINSIC
low complexity region	325	337	N/A	INTRINSIC
coiled coil region	642	699	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106557
AA Change: P943Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102167
Gene: ENSMUSG00000033904
AA Change: P943Q

Domain	Start	End	E-Value	Type
low complexity region	50	62	N/A	INTRINSIC
low complexity region	241	253	N/A	INTRINSIC
low complexity region	325	337	N/A	INTRINSIC
coiled coil region	642	699	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000123178
AA Change: P779Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208766
AA Change: P143Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1854

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit pleiotropic phenotypes due to impaired sonic hedgehog (Shh) signaling and failure of primary cilia formation in multiple tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	G	8: 56,324,694 (GRCm39)	C587R	probably damaging	Het
Adgrg7	T	C	16: 56,562,769 (GRCm39)	T523A	probably damaging	Het
Arrdc3	A	T	13: 81,038,815 (GRCm39)	K259M	probably damaging	Het
Becn1	A	T	11: 101,186,150 (GRCm39)	N151K	probably benign	Het
Cars2	C	T	8: 11,579,649 (GRCm39)	E270K	probably damaging	Het
Ccser2	A	G	14: 36,661,786 (GRCm39)	I466T	probably benign	Het
Cd164	A	G	10: 41,399,193 (GRCm39)	E94G	probably benign	Het
Cdon	C	T	9: 35,415,446 (GRCm39)	T1228I	probably benign	Het
Cubn	C	A	2: 13,311,091 (GRCm39)	V3145L	probably benign	Het
Cubn	T	A	2: 13,311,092 (GRCm39)	K3144N	probably benign	Het
Dchs1	A	G	7: 105,411,078 (GRCm39)	V1649A	probably benign	Het
Dgka	A	T	10: 128,569,452 (GRCm39)	D153E	probably damaging	Het
Dip2b	A	G	15: 100,055,853 (GRCm39)		probably null	Het
Dnajc21	T	C	15: 10,449,717 (GRCm39)	T435A	probably benign	Het
F830016B08Rik	A	T	18: 60,433,543 (GRCm39)	I209F	probably damaging	Het
Ghdc	C	A	11: 100,660,540 (GRCm39)	S111I	possibly damaging	Het
Gm19965	T	C	1: 116,749,005 (GRCm39)	C229R		Het
Gpm6a	C	T	8: 55,490,486 (GRCm39)	T54I	probably damaging	Het
Gpr171	G	T	3: 59,005,577 (GRCm39)	A66E	probably damaging	Het
Grm7	A	G	6: 111,335,113 (GRCm39)	D508G	probably benign	Het
Has1	G	A	17: 18,064,068 (GRCm39)	R524C	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv3-8	A	T	12: 114,286,402 (GRCm39)	L7Q	probably damaging	Het
Ints10	A	T	8: 69,249,403 (GRCm39)	R78*	probably null	Het
Itpr1	A	G	6: 108,365,257 (GRCm39)	I903V	probably benign	Het
Lrp1	A	G	10: 127,386,052 (GRCm39)		probably null	Het
Mki67	A	G	7: 135,307,358 (GRCm39)	V132A	probably damaging	Het
Myh4	A	G	11: 67,143,999 (GRCm39)	E1123G	possibly damaging	Het
Neurog3	A	G	10: 61,969,359 (GRCm39)	T40A	probably benign	Het
Nipsnap3b	T	A	4: 53,021,095 (GRCm39)		probably null	Het
Nr4a3	G	A	4: 48,055,957 (GRCm39)	V328I	probably damaging	Het
Or11g27	T	A	14: 50,771,278 (GRCm39)	Y136*	probably null	Het
Or2d36	T	C	7: 106,747,236 (GRCm39)	F238L	probably damaging	Het
Or52u1	A	T	7: 104,237,430 (GRCm39)	S140C	probably damaging	Het
Or5af2	G	A	11: 58,707,990 (GRCm39)	R52Q	probably benign	Het
Or5b124	G	T	19: 13,611,244 (GRCm39)	M256I	possibly damaging	Het
Or5p63	A	T	7: 107,811,205 (GRCm39)	V177D	probably damaging	Het
Osbpl5	A	G	7: 143,263,577 (GRCm39)	L102P	probably benign	Het
Ppl	C	T	16: 4,917,983 (GRCm39)	R503Q	probably damaging	Het
Ppp2r2d	T	C	7: 138,478,326 (GRCm39)	M321T	possibly damaging	Het
Prex1	T	C	2: 166,475,302 (GRCm39)	Y197C	probably damaging	Het
Prss32	A	G	17: 24,072,895 (GRCm39)	D42G	possibly damaging	Het
Ralgapa1	T	C	12: 55,768,361 (GRCm39)	E1210G	possibly damaging	Het
Sdr16c5	A	G	4: 4,006,591 (GRCm39)	C234R	probably damaging	Het
Slc23a4	A	G	6: 34,933,819 (GRCm39)	S95P	probably damaging	Het
Srp14	T	C	2: 118,309,871 (GRCm39)	T29A	probably damaging	Het
Tet2	T	A	3: 133,172,784 (GRCm39)	H1826L	possibly damaging	Het
Tfr2	A	T	5: 137,581,836 (GRCm39)	Y641F	probably damaging	Het
Tmco5b	A	G	2: 113,117,766 (GRCm39)	N27D	probably damaging	Het
Tvp23a	T	C	16: 10,246,599 (GRCm39)	D62G	probably benign	Het
Usp12	A	G	5: 146,674,562 (GRCm39)	F347S	possibly damaging	Het
Zfp407	A	T	18: 84,576,601 (GRCm39)	L1504Q	probably damaging	Het
Zfp524	A	G	7: 5,020,895 (GRCm39)	D141G	possibly damaging	Het
Zfp68	A	G	5: 138,605,201 (GRCm39)	I374T	possibly damaging	Het
Zfp758	C	T	17: 22,594,137 (GRCm39)	H208Y	probably benign	Het
Zfp804b	T	C	5: 6,819,751 (GRCm39)	H1104R	probably benign	Het
Znrf2	T	A	6: 54,819,680 (GRCm39)	*75K	probably null	Het
Zzef1	T	C	11: 72,790,385 (GRCm39)	V2113A	probably benign	Het

Other mutations in Ccp110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Ccp110	APN	7	118,321,647 (GRCm39)	missense	possibly damaging	0.79
IGL00481:Ccp110	APN	7	118,329,220 (GRCm39)	missense	possibly damaging	0.70
IGL00725:Ccp110	APN	7	118,329,946 (GRCm39)	missense	probably damaging	0.99
IGL00899:Ccp110	APN	7	118,321,907 (GRCm39)	missense	probably benign
IGL01837:Ccp110	APN	7	118,324,684 (GRCm39)	critical splice donor site	probably null
PIT4469001:Ccp110	UTSW	7	118,321,600 (GRCm39)	missense	probably benign	0.06
R1217:Ccp110	UTSW	7	118,329,167 (GRCm39)	splice site	probably benign
R1640:Ccp110	UTSW	7	118,314,751 (GRCm39)	splice site	probably null
R1700:Ccp110	UTSW	7	118,334,536 (GRCm39)	missense	probably damaging	0.99
R1768:Ccp110	UTSW	7	118,325,247 (GRCm39)	splice site	probably null
R4737:Ccp110	UTSW	7	118,323,771 (GRCm39)	missense	possibly damaging	0.96
R4859:Ccp110	UTSW	7	118,324,653 (GRCm39)	missense	possibly damaging	0.93
R4933:Ccp110	UTSW	7	118,324,542 (GRCm39)	missense	probably damaging	0.96
R4970:Ccp110	UTSW	7	118,321,614 (GRCm39)	missense	possibly damaging	0.85
R4999:Ccp110	UTSW	7	118,329,235 (GRCm39)	nonsense	probably null
R5212:Ccp110	UTSW	7	118,328,919 (GRCm39)	missense	probably damaging	0.99
R5600:Ccp110	UTSW	7	118,328,948 (GRCm39)	critical splice donor site	probably null
R6953:Ccp110	UTSW	7	118,321,644 (GRCm39)	missense	possibly damaging	0.85
R6998:Ccp110	UTSW	7	118,332,120 (GRCm39)	missense	possibly damaging	0.91
R7092:Ccp110	UTSW	7	118,334,494 (GRCm39)	missense	probably benign	0.26
R7336:Ccp110	UTSW	7	118,321,433 (GRCm39)	missense	probably damaging	0.99
R7343:Ccp110	UTSW	7	118,323,798 (GRCm39)	missense	probably benign	0.03
R7866:Ccp110	UTSW	7	118,322,241 (GRCm39)	missense	probably benign	0.07
R8306:Ccp110	UTSW	7	118,321,903 (GRCm39)	missense	probably benign	0.12
R8951:Ccp110	UTSW	7	118,321,015 (GRCm39)	missense	possibly damaging	0.70
R8961:Ccp110	UTSW	7	118,322,110 (GRCm39)	missense	probably damaging	0.96
R9036:Ccp110	UTSW	7	118,324,680 (GRCm39)	missense	probably damaging	0.98
R9252:Ccp110	UTSW	7	118,321,673 (GRCm39)	missense	probably benign
R9652:Ccp110	UTSW	7	118,334,553 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GCTCTCCTGCTGAAAACCTG -3'
(R):5'- CCACGCAGATGTGAACTAAAAG -3'

Sequencing Primer
(F):5'- CTGAAAACCTGAGGTCTGAGCTC -3'
(R):5'- GATTTACACAGCAGCGCAG -3'

Posted On

2019-05-15