Mutagenetix > Incidental Mutation

Incidental Mutation 'R8951:Ccp110'

681644

Institutional Source

Beutler Lab

Gene Symbol

Ccp110

Ensembl Gene

ENSMUSG00000033904

Gene Name

centriolar coiled coil protein 110

Synonyms

6330503K22Rik, CP110

MMRRC Submission

068788-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R8951 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118311775-118336247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118321015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 223 (I223M)

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: I223M

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038881
Gene: ENSMUSG00000033904
AA Change: I223M

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: I223M

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102167
Gene: ENSMUSG00000033904
AA Change: I223M

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 benign
Transcript: ENSMUST00000208766

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	T	C	11: 102,665,193 (GRCm39)		probably null	Het
Adcy6	A	T	15: 98,502,140 (GRCm39)	V158E	possibly damaging	Het
Adgrg3	T	C	8: 95,761,362 (GRCm39)		probably benign	Het
Arsb	T	C	13: 93,944,124 (GRCm39)	S272P	probably damaging	Het
Asb10	A	C	5: 24,742,952 (GRCm39)	C260W	probably damaging	Het
Atp13a1	A	G	8: 70,246,484 (GRCm39)	D158G	probably benign	Het
Bcl6	T	C	16: 23,793,704 (GRCm39)	E81G	probably damaging	Het
C7	A	T	15: 5,032,231 (GRCm39)	V660E	probably benign	Het
Cacna1c	T	C	6: 118,590,300 (GRCm39)	D1401G	probably damaging	Het
Cilp	A	G	9: 65,180,220 (GRCm39)	E187G	probably benign	Het
Cmc2	T	C	8: 117,637,904 (GRCm39)	N15S	probably damaging	Het
Cnnm3	T	A	1: 36,558,019 (GRCm39)		probably benign	Het
Col27a1	T	G	4: 63,191,311 (GRCm39)	M828R	possibly damaging	Het
Cpm	C	T	10: 117,511,938 (GRCm39)	P294L	probably damaging	Het
Cpt1a	G	C	19: 3,412,211 (GRCm39)	A228P	probably benign	Het
Ctbp1	A	G	5: 33,416,679 (GRCm39)	V43A	probably damaging	Het
Cylc2	A	T	4: 51,229,469 (GRCm39)	E270D	unknown	Het
Cyp46a1	A	C	12: 108,312,348 (GRCm39)	R119S	possibly damaging	Het
Dctn3	A	T	4: 41,719,845 (GRCm39)	I87N	probably damaging	Het
Dhdds	C	T	4: 133,719,857 (GRCm39)	V25I	possibly damaging	Het
Entpd1	A	C	19: 40,727,319 (GRCm39)	N489T	probably damaging	Het
Fam110a	T	C	2: 151,812,461 (GRCm39)	D103G	probably damaging	Het
Foxo6	T	A	4: 120,125,133 (GRCm39)	Q554L	unknown	Het
Gbp5	T	A	3: 142,206,481 (GRCm39)	M55K	probably damaging	Het
Gm20730	T	C	6: 43,058,638 (GRCm39)	Y58C	possibly damaging	Het
Grip1	T	A	10: 119,874,509 (GRCm39)	S679T	possibly damaging	Het
Gtdc1	A	C	2: 44,679,030 (GRCm39)		probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igha	T	A	12: 113,222,684 (GRCm39)	N246Y		Het
Ighg2b	T	A	12: 113,270,926 (GRCm39)	T104S	probably benign	Het
Ighmbp2	C	T	19: 3,318,726 (GRCm39)	W450*	probably null	Het
Ipo11	T	C	13: 106,978,690 (GRCm39)	E839G	possibly damaging	Het
Iqce	T	C	5: 140,675,578 (GRCm39)	D207G	probably damaging	Het
Irgm2	T	C	11: 58,110,408 (GRCm39)	V45A	possibly damaging	Het
Itga1	C	T	13: 115,107,027 (GRCm39)	W1021*	probably null	Het
Itga3	T	C	11: 94,944,911 (GRCm39)	Y799C	probably damaging	Het
Klf1	T	C	8: 85,629,912 (GRCm39)	S246P	possibly damaging	Het
Kras	A	T	6: 145,166,338 (GRCm39)	M188K	probably benign	Het
Lacc1	C	T	14: 77,272,613 (GRCm39)	C61Y	probably benign	Het
Lect2	T	A	13: 56,690,822 (GRCm39)		probably benign	Het
Leng9	G	A	7: 4,152,782 (GRCm39)		probably benign	Het
Lhx9	A	G	1: 138,769,704 (GRCm39)	C6R	probably damaging	Het
Matn3	T	A	12: 9,002,172 (GRCm39)	I128K	probably damaging	Het
Ndst1	T	C	18: 60,830,196 (GRCm39)	E638G	probably benign	Het
Nell2	A	T	15: 95,139,424 (GRCm39)	C603S	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Oas1h	T	G	5: 121,000,657 (GRCm39)	F89C	probably damaging	Het
Or4d10c	A	T	19: 12,066,056 (GRCm39)	Y33*	probably null	Het
Or52l1	A	G	7: 104,829,638 (GRCm39)	V294A	probably damaging	Het
Or5b101	T	A	19: 13,004,827 (GRCm39)	S289C		Het
Or5d45	C	T	2: 88,153,975 (GRCm39)	G25S	probably damaging	Het
P2ry2	G	A	7: 100,647,228 (GRCm39)	T359I	probably damaging	Het
Pbxip1	T	A	3: 89,352,864 (GRCm39)	V170E	probably benign	Het
Pcdhb20	T	A	18: 37,639,146 (GRCm39)	N557K	probably damaging	Het
Pdilt	A	G	7: 119,099,611 (GRCm39)	V219A	possibly damaging	Het
Plec	G	T	15: 76,067,310 (GRCm39)	S1149*	probably null	Het
Pnkp	C	T	7: 44,507,617 (GRCm39)	T61I	possibly damaging	Het
Polr1f	G	T	12: 33,487,867 (GRCm39)	E261*	probably null	Het
Prss56	T	A	1: 87,115,749 (GRCm39)	V541D	probably damaging	Het
Rab40c	A	G	17: 26,138,407 (GRCm39)	V25A	probably damaging	Het
Rgs8	A	T	1: 153,546,567 (GRCm39)	H22L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Slc1a2	T	C	2: 102,586,353 (GRCm39)	V319A	probably damaging	Het
Sp140l2	G	A	1: 85,224,671 (GRCm39)	S288L	possibly damaging	Het
Spata18	A	T	5: 73,828,572 (GRCm39)	I378F	probably damaging	Het
Speer1i	T	A	5: 11,092,799 (GRCm39)	Y79*	probably null	Het
Stag1	T	C	9: 100,762,854 (GRCm39)	V485A	probably damaging	Het
Tas2r104	T	A	6: 131,662,569 (GRCm39)	I47F	probably damaging	Het
Thumpd1	A	T	7: 119,317,471 (GRCm39)	H143Q	possibly damaging	Het
Tmem231	T	C	8: 112,640,697 (GRCm39)	Q272R	probably damaging	Het
Tnfaip2	A	G	12: 111,412,310 (GRCm39)	D237G	probably benign	Het
Tox3	T	C	8: 91,074,543 (GRCm39)	D12G	probably benign	Het
Vmn1r1	A	G	1: 181,985,309 (GRCm39)	S119P	probably damaging	Het
Xrn1	A	G	9: 95,870,999 (GRCm39)	E608G	probably benign	Het
Zfp395	T	C	14: 65,629,528 (GRCm39)	C281R	probably damaging	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
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
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'- TGCCTGTGAATAATGAGGACCAAC -3'
(R):5'- TTTGTCAGGGATGGCAGAGC -3'

Sequencing Primer
(F):5'- CCTGGAGACTCAGAGGTGTC -3'
(R):5'- AGCCACAGTGCCTGCCTATG -3'

Posted On

2021-08-31