Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00089:Ccp110'

1446

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: 0.889) question?

Stock #

IGL00089

Quality Score

Status

Chromosome

Chromosomal Location

118311775-118336247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118321647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 434 (C434F)

Ref Sequence

ENSEMBL: ENSMUSP00000102167 (fasta)

Gene Model

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

AlphaFold

Q7TSH4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038650
AA Change: C434F

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038881
Gene: ENSMUSG00000033904
AA Change: C434F

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

possibly damaging
Transcript: ENSMUST00000106557
AA Change: C434F

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102167
Gene: ENSMUSG00000033904
AA Change: C434F

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: C270F

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149056

Predicted Effect

probably benign
Transcript: ENSMUST00000208766

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	C	5: 138,645,854 (GRCm39)	S580P	probably damaging	Het
Abca12	T	A	1: 71,342,700 (GRCm39)	I927F	possibly damaging	Het
Abca8a	A	G	11: 109,941,765 (GRCm39)	V1168A	possibly damaging	Het
Abcc1	T	A	16: 14,278,847 (GRCm39)	N1052K	probably benign	Het
Adamts13	C	A	2: 26,895,373 (GRCm39)	Q1155K	probably benign	Het
Adgre4	A	T	17: 56,098,915 (GRCm39)		probably benign	Het
Ahsa2	T	C	11: 23,446,837 (GRCm39)	E42G	probably damaging	Het
Ankk1	T	G	9: 49,333,200 (GRCm39)	I95L	probably benign	Het
Anpep	A	T	7: 79,491,734 (GRCm39)	L89Q	probably damaging	Het
Arl5a	T	C	2: 52,306,083 (GRCm39)	N83S	probably benign	Het
Atp11b	A	G	3: 35,863,525 (GRCm39)		probably null	Het
Atp6v0a2	T	C	5: 124,798,841 (GRCm39)	F849L	probably benign	Het
BC106179	A	G	16: 23,043,022 (GRCm39)		probably benign	Het
Bcl2a1c	T	C	9: 114,159,608 (GRCm39)	*129Q	probably null	Het
C2cd5	T	C	6: 142,963,671 (GRCm39)	I888V	probably null	Het
Calb2	A	T	8: 110,872,303 (GRCm39)	L227Q	probably damaging	Het
Cd209c	A	T	8: 3,990,339 (GRCm39)	C160S	probably damaging	Het
Chmp1a	A	G	8: 123,935,758 (GRCm39)		probably null	Het
Col6a6	T	A	9: 105,635,390 (GRCm39)		probably null	Het
Cyld	T	A	8: 89,432,085 (GRCm39)	C28S	probably benign	Het
Dapk1	A	T	13: 60,908,854 (GRCm39)	I1156F	probably benign	Het
Dennd1a	A	T	2: 38,133,454 (GRCm39)	Y16*	probably null	Het
Dennd3	T	G	15: 73,438,982 (GRCm39)	S1117A	probably benign	Het
Dgka	A	T	10: 128,568,955 (GRCm39)	D203E	probably damaging	Het
Dhx15	G	T	5: 52,324,117 (GRCm39)	L392I	probably damaging	Het
Dnah10	A	G	5: 124,823,680 (GRCm39)	D567G	probably benign	Het
Eaf1	T	A	14: 31,226,483 (GRCm39)		probably null	Het
Efnb2	T	C	8: 8,710,589 (GRCm39)	D9G	probably benign	Het
Fcrla	A	T	1: 170,755,067 (GRCm39)	C15S	probably benign	Het
Flt3	T	C	5: 147,291,686 (GRCm39)	N588S	probably damaging	Het
Garre1	A	T	7: 33,945,412 (GRCm39)		probably benign	Het
Gm10146	A	T	10: 78,229,307 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,653 (GRCm39)		probably benign	Het
Golm2	T	C	2: 121,741,274 (GRCm39)		probably benign	Het
Gpr39	A	C	1: 125,800,468 (GRCm39)	R406S	probably benign	Het
H2-Aa	T	C	17: 34,503,504 (GRCm39)	H31R	probably damaging	Het
Helz2	G	T	2: 180,871,495 (GRCm39)	R2706S	probably damaging	Het
Hip1r	T	A	5: 124,127,798 (GRCm39)		probably null	Het
Hnf4g	A	G	3: 3,713,142 (GRCm39)	T239A	probably benign	Het
Hps5	A	T	7: 46,425,362 (GRCm39)	I413N	probably damaging	Het
Hspg2	G	A	4: 137,256,131 (GRCm39)	G1413R	probably damaging	Het
Itgax	T	G	7: 127,734,498 (GRCm39)	M352R	probably damaging	Het
Katna1	T	A	10: 7,638,568 (GRCm39)	M433K	probably damaging	Het
Kcna4	T	G	2: 107,126,207 (GRCm39)	S314A	probably damaging	Het
Kif13b	C	T	14: 64,907,142 (GRCm39)	T42I	possibly damaging	Het
Krt78	G	A	15: 101,855,945 (GRCm39)	T622I	probably benign	Het
Krt86	T	A	15: 101,374,396 (GRCm39)	M263K	possibly damaging	Het
Lap3	A	G	5: 45,663,511 (GRCm39)		probably benign	Het
Lepr	A	T	4: 101,672,232 (GRCm39)	R1085S	probably benign	Het
Lmcd1	A	G	6: 112,306,769 (GRCm39)	I314V	probably benign	Het
Luc7l2	T	C	6: 38,585,105 (GRCm39)		probably benign	Het
Mcm2	T	A	6: 88,870,383 (GRCm39)	M117L	probably benign	Het
Mdh2	T	C	5: 135,815,138 (GRCm39)	Y133H	probably damaging	Het
Minar1	C	T	9: 89,483,853 (GRCm39)	V515I	probably benign	Het
Mlkl	T	A	8: 112,046,060 (GRCm39)	R317*	probably null	Het
Mrps34	T	C	17: 25,114,344 (GRCm39)	L68P	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Myo18a	A	G	11: 77,738,764 (GRCm39)	E1299G	probably damaging	Het
Nlrp14	T	C	7: 106,791,709 (GRCm39)	L139P	possibly damaging	Het
Nudcd2	A	G	11: 40,627,413 (GRCm39)	D86G	probably damaging	Het
Or10u4	T	A	10: 129,801,673 (GRCm39)	R293W	probably damaging	Het
Or4c107	T	A	2: 88,789,110 (GRCm39)	I100N	probably damaging	Het
Or4f62	A	T	2: 111,986,412 (GRCm39)	M39L	probably benign	Het
Patj	T	C	4: 98,353,343 (GRCm39)	F629L	probably damaging	Het
Rad23a	A	G	8: 85,562,524 (GRCm39)	F280L	probably damaging	Het
Ralgapa1	C	A	12: 55,769,558 (GRCm39)	G811V	probably damaging	Het
St18	A	G	1: 6,872,796 (GRCm39)	D177G	probably benign	Het
Sult1c2	A	C	17: 54,140,147 (GRCm39)	Y159*	probably null	Het
Surf6	T	A	2: 26,783,081 (GRCm39)		probably null	Het
Susd6	T	G	12: 80,916,841 (GRCm39)		probably benign	Het
Sypl2	G	A	3: 108,133,742 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 37,984,280 (GRCm39)	F2289Y	probably damaging	Het
Vcl	T	C	14: 21,037,071 (GRCm39)	I223T	probably benign	Het
Vmn1r234	C	T	17: 21,449,860 (GRCm39)	T258I	possibly damaging	Het
Vmn2r58	T	A	7: 41,513,854 (GRCm39)	K263M	possibly damaging	Het
Vmo1	A	T	11: 70,404,424 (GRCm39)	N192K	probably damaging	Het
Wrnip1	A	G	13: 33,000,312 (GRCm39)	N440D	probably damaging	Het
Zc3h4	T	C	7: 16,156,159 (GRCm39)	Y264H	unknown	Het
Zfp639	T	G	3: 32,573,902 (GRCm39)		probably null	Het
Zfp831	T	C	2: 174,488,078 (GRCm39)	Y918H	possibly damaging	Het

Other mutations in Ccp110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-07-12