Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00725:Ccp110'

13261

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccp110

Ensembl Gene

ENSMUSG00000033904

Gene Name

centriolar coiled coil protein 110

Synonyms

6330503K22Rik, CP110

Accession Numbers

Essential gene?

Probably essential (E-score: 0.887) question?

Stock #

IGL00725

Quality Score

Status

Chromosome

Chromosomal Location

118311775-118336247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118329946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 912 (D912G)

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: D912G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038881
Gene: ENSMUSG00000033904
AA Change: D912G

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: D912G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102167
Gene: ENSMUSG00000033904
AA Change: D912G

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

unknown
Transcript: ENSMUST00000123178
AA Change: D748G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149056

Predicted Effect

unknown
Transcript: ENSMUST00000208766
AA Change: D112G

Coding Region Coverage

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp11b	G	T	3: 35,881,222 (GRCm39)	R593L	probably damaging	Het
Axl	A	T	7: 25,463,908 (GRCm39)	D566E	probably damaging	Het
Clca3b	C	T	3: 144,544,923 (GRCm39)	D355N	probably benign	Het
Clock	A	C	5: 76,402,260 (GRCm39)	Y133*	probably null	Het
Cntn4	T	A	6: 106,639,616 (GRCm39)	V582E	probably damaging	Het
Ddx1	A	G	12: 13,277,460 (GRCm39)		probably benign	Het
Ddx1	A	G	12: 13,295,691 (GRCm39)	L43P	probably damaging	Het
Dnase2b	G	A	3: 146,302,133 (GRCm39)	T8I	probably benign	Het
Ermard	T	C	17: 15,208,328 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,331,752 (GRCm39)	V22A	probably damaging	Het
Ifi208	T	C	1: 173,510,427 (GRCm39)	I194T	possibly damaging	Het
Krt9	T	A	11: 100,080,832 (GRCm39)	E340V	probably damaging	Het
Nup58	G	T	14: 60,480,889 (GRCm39)	T152K	possibly damaging	Het
Otog	A	G	7: 45,923,516 (GRCm39)	S1050G	probably damaging	Het
Prkdc	A	G	16: 15,634,503 (GRCm39)	N3580S	probably benign	Het
Rsbn1	T	C	3: 103,836,137 (GRCm39)	S392P	probably damaging	Het
Sestd1	T	C	2: 77,018,866 (GRCm39)	I647V	probably benign	Het
Sugct	A	T	13: 17,837,357 (GRCm39)	S91R	probably damaging	Het
Syne1	A	G	10: 5,344,922 (GRCm38)	Y1227S	possibly damaging	Het
Synpo	C	T	18: 60,737,149 (GRCm39)	V27I	probably damaging	Het
Tcp11l2	T	C	10: 84,430,574 (GRCm39)	I233T	possibly damaging	Het
Vwde	A	G	6: 13,187,411 (GRCm39)	V692A	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
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
R7076:Ccp110	UTSW	7	118,331,628 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2012-12-06