Mutagenetix > Incidental Mutation

Incidental Mutation 'R8306:Ccp110'

641071

Institutional Source

Beutler Lab

Gene Symbol

Ccp110

Ensembl Gene

ENSMUSG00000033904

Gene Name

centriolar coiled coil protein 110

Synonyms

6330503K22Rik, CP110

MMRRC Submission

067792-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R8306 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118311775-118336247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118321903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 519 (D519E)

Ref Sequence

ENSEMBL: ENSMUSP00000038881 (fasta)

Gene Model

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

AlphaFold

Q7TSH4

Predicted Effect

probably benign
Transcript: ENSMUST00000038650
AA Change: D519E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038881
Gene: ENSMUSG00000033904
AA Change: D519E

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 benign
Transcript: ENSMUST00000106557
AA Change: D519E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102167
Gene: ENSMUSG00000033904
AA Change: D519E

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

possibly damaging
Transcript: ENSMUST00000123178
AA Change: D355E

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000208766

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,302,194 (GRCm39)	V158F	probably damaging	Het
Abtb3	T	A	10: 85,434,409 (GRCm39)	C22*	probably null	Het
Adam1b	T	C	5: 121,641,212 (GRCm39)		probably benign	Het
Ambn	G	A	5: 88,607,281 (GRCm39)	E50K	possibly damaging	Het
Ash1l	A	G	3: 88,873,259 (GRCm39)	D14G	probably benign	Het
Asphd1	C	T	7: 126,547,784 (GRCm39)	R173H	probably damaging	Het
Atr	A	T	9: 95,802,423 (GRCm39)	T1772S		Het
Best3	T	C	10: 116,838,515 (GRCm39)	L191P	probably damaging	Het
Bola1	A	T	3: 96,104,517 (GRCm39)	S26T	probably benign	Het
Borcs6	T	C	11: 68,950,646 (GRCm39)	L8P	probably benign	Het
Brca1	T	G	11: 101,416,463 (GRCm39)	Q557P	probably damaging	Het
Brca2	G	A	5: 150,460,128 (GRCm39)	E468K	possibly damaging	Het
Capza2	T	A	6: 17,637,131 (GRCm39)	L4Q	probably benign	Het
Cc2d2b	T	A	19: 40,804,228 (GRCm39)	Y918*	probably null	Het
Ccdc163	T	C	4: 116,567,472 (GRCm39)	L67P	probably damaging	Het
Ccdc172	C	A	19: 58,525,022 (GRCm39)	Q160K	probably damaging	Het
Cd300ld2	T	C	11: 114,904,648 (GRCm39)	Q73R	probably benign	Het
Cfap46	T	A	7: 139,236,496 (GRCm39)	D608V		Het
Cfap69	T	G	5: 5,654,287 (GRCm39)	Y549S	probably benign	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Clu	A	C	14: 66,217,211 (GRCm39)	Q348P	probably damaging	Het
Cnot1	A	T	8: 96,473,649 (GRCm39)	N1153K	probably benign	Het
Col2a1	T	C	15: 97,888,849 (GRCm39)		probably null	Het
Col6a6	A	T	9: 105,661,272 (GRCm39)	I279N	probably damaging	Het
Dop1a	A	G	9: 86,402,259 (GRCm39)	D1153G	possibly damaging	Het
Dpyd	A	G	3: 119,205,822 (GRCm39)	K888E	probably benign	Het
Eif2ak4	T	C	2: 118,287,656 (GRCm39)	I1208T	possibly damaging	Het
Epha1	T	C	6: 42,335,722 (GRCm39)	I972V	probably damaging	Het
Fam13c	C	T	10: 70,388,983 (GRCm39)	T503I	probably benign	Het
Fbxo43	T	A	15: 36,162,013 (GRCm39)	Q398L	probably benign	Het
Fbxo44	A	G	4: 148,243,089 (GRCm39)	I57T	probably benign	Het
Flnc	T	C	6: 29,449,369 (GRCm39)	I1422T	probably benign	Het
Flrt2	T	C	12: 95,746,076 (GRCm39)	L138P	probably damaging	Het
Frem3	A	G	8: 81,338,840 (GRCm39)	K378E	possibly damaging	Het
Ganc	T	A	2: 120,252,560 (GRCm39)	D128E	probably benign	Het
Gm19965	T	C	1: 116,749,515 (GRCm39)	S399P		Het
H2-Q1	A	T	17: 35,539,997 (GRCm39)	K89*	probably null	Het
H2-Q2	A	T	17: 35,561,301 (GRCm39)		probably benign	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Homer2	T	A	7: 81,274,014 (GRCm39)	S125C	possibly damaging	Het
Hormad2	T	C	11: 4,358,714 (GRCm39)	K231R	probably benign	Het
Kif17	A	C	4: 138,005,220 (GRCm39)	K262Q	probably damaging	Het
Kif20a	G	A	18: 34,761,444 (GRCm39)	S279N	probably benign	Het
Lrp12	T	C	15: 39,741,450 (GRCm39)	N441D	probably damaging	Het
Lta4h	G	T	10: 93,318,126 (GRCm39)	L515F	possibly damaging	Het
Mavs	T	C	2: 131,088,470 (GRCm39)	S425P	probably benign	Het
Mcat	A	C	15: 83,439,592 (GRCm39)	D99E	probably damaging	Het
Nav2	C	A	7: 49,195,765 (GRCm39)	T1047K	probably benign	Het
Neb	T	A	2: 52,099,657 (GRCm39)	Y4731F	probably damaging	Het
Nectin4	G	C	1: 171,211,325 (GRCm39)	R283P	probably null	Het
Notch3	G	A	17: 32,377,086 (GRCm39)	T273I	probably damaging	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or5i1	A	T	2: 87,613,830 (GRCm39)	*317C	probably null	Het
Or6b2b	T	G	1: 92,419,247 (GRCm39)	I77L	possibly damaging	Het
Or6z7	T	A	7: 6,483,868 (GRCm39)	I96F	possibly damaging	Het
Pcdha12	A	T	18: 37,155,638 (GRCm39)	T786S	probably benign	Het
Pde9a	A	G	17: 31,692,186 (GRCm39)	K520E	probably benign	Het
Piezo2	A	C	18: 63,208,801 (GRCm39)	L1404R	probably damaging	Het
Rrbp1	T	C	2: 143,792,416 (GRCm39)	S1321G	probably benign	Het
Rtkn	T	C	6: 83,128,897 (GRCm39)	V464A	probably damaging	Het
Rtn4rl1	T	C	11: 75,156,147 (GRCm39)	F193S	probably damaging	Het
Samd4	G	A	14: 47,122,374 (GRCm39)	V33I	probably damaging	Het
Scn5a	A	G	9: 119,350,357 (GRCm39)	L839P	probably damaging	Het
Slc6a17	C	A	3: 107,380,985 (GRCm39)	V507L	probably benign	Het
Stradb	C	A	1: 59,030,356 (GRCm39)	N203K	unknown	Het
Tenm2	T	C	11: 35,960,196 (GRCm39)	T1044A	possibly damaging	Het
Tmem245	A	C	4: 56,886,037 (GRCm39)	W860G	probably damaging	Het
Tpst2	G	A	5: 112,455,803 (GRCm39)	R114H	probably damaging	Het
Trappc10	C	T	10: 78,036,460 (GRCm39)	D920N	possibly damaging	Het
Vmn1r59	T	A	7: 5,456,966 (GRCm39)	I265L	probably benign	Het
Zbtb20	A	C	16: 43,439,100 (GRCm39)	D667A	probably damaging	Het
Zbtb4	T	A	11: 69,668,309 (GRCm39)	I344N	probably damaging	Het
Zdbf2	T	A	1: 63,343,234 (GRCm39)	C538S	possibly damaging	Het
Zmym6	A	T	4: 127,016,355 (GRCm39)	H712L	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
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'- ATCACGTCTGAGAGCACAAGAG -3'
(R):5'- ACAAACTGCTCGTTTCCACG -3'

Sequencing Primer
(F):5'- GTCGTGGGTAAGCCAAGTC -3'
(R):5'- TCCATCTGCTGTCTGGAA -3'

Posted On

2020-07-28