Mutagenetix > Incidental Mutation

Incidental Mutation 'R6953:Ccp110'

541311

Institutional Source

Beutler Lab

Gene Symbol

Ccp110

Ensembl Gene

ENSMUSG00000033904

Gene Name

centriolar coiled coil protein 110

Synonyms

6330503K22Rik, CP110

MMRRC Submission

045065-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R6953 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118311775-118336247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118321644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 433 (V433A)

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: V433A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038881
Gene: ENSMUSG00000033904
AA Change: V433A

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: V433A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102167
Gene: ENSMUSG00000033904
AA Change: V433A

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: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

98% (54/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	A	15: 57,892,223 (GRCm39)	S128I	probably damaging	Het
Aadacl2	A	C	3: 59,932,181 (GRCm39)	H232P	possibly damaging	Het
Abcc3	A	G	11: 94,265,661 (GRCm39)	Y125H	probably benign	Het
Adgrb3	A	G	1: 25,865,592 (GRCm39)	S84P	probably damaging	Het
Adgrd1	A	T	5: 129,192,142 (GRCm39)	K71*	probably null	Het
Ap2m1	T	A	16: 20,361,468 (GRCm39)	W381R	probably damaging	Het
Ascc3	A	G	10: 50,521,762 (GRCm39)	I426V	probably benign	Het
BC024063	T	A	10: 81,943,733 (GRCm39)	D31E	possibly damaging	Het
C3ar1	G	A	6: 122,827,591 (GRCm39)	H209Y	possibly damaging	Het
Cfap54	A	G	10: 92,830,540 (GRCm39)	S1199P	probably benign	Het
Cyp24a1	T	G	2: 170,329,866 (GRCm39)	D362A	probably benign	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnmt1	G	T	9: 20,829,822 (GRCm39)	Q633K	probably benign	Het
Ercc4	T	A	16: 12,948,550 (GRCm39)	V499D	probably damaging	Het
Ier3ip1	C	G	18: 77,027,309 (GRCm39)	P46R	probably damaging	Het
Ifi211	T	C	1: 173,733,832 (GRCm39)	T110A	probably damaging	Het
Isoc1	A	G	18: 58,804,374 (GRCm39)	D134G	possibly damaging	Het
Kif26b	A	G	1: 178,701,637 (GRCm39)	D672G	possibly damaging	Het
Klhl33	T	A	14: 51,128,973 (GRCm39)	D752V	possibly damaging	Het
Lcn4	A	G	2: 26,559,367 (GRCm39)	Y133H	probably benign	Het
Mrs2	C	A	13: 25,185,771 (GRCm39)	V134L	probably benign	Het
Muc16	T	C	9: 18,551,825 (GRCm39)	T4823A	probably benign	Het
Ogfod3	A	G	11: 121,093,824 (GRCm39)	I62T	probably benign	Het
Or2m13	C	T	16: 19,226,278 (GRCm39)	V164I	probably benign	Het
Or2y10	A	G	11: 49,455,117 (GRCm39)	Y123C	probably damaging	Het
Or6c204	A	T	10: 129,022,474 (GRCm39)	M272K	probably benign	Het
Or7e175	A	T	9: 20,049,299 (GRCm39)	I296L	probably benign	Het
Papln	G	A	12: 83,828,659 (GRCm39)	W788*	probably null	Het
Pcdhac2	A	G	18: 37,277,479 (GRCm39)	Q153R	probably benign	Het
Pcdhgb2	C	T	18: 37,823,807 (GRCm39)	T266I	possibly damaging	Het
Pcdhgc5	C	A	18: 37,953,514 (GRCm39)	R263S	possibly damaging	Het
Phactr4	T	C	4: 132,104,662 (GRCm39)	T185A	possibly damaging	Het
Plcxd2	T	C	16: 45,800,882 (GRCm39)	D114G	probably damaging	Het
Polr2a	A	T	11: 69,632,537 (GRCm39)	I987N	probably damaging	Het
Prl3d3	A	G	13: 27,345,029 (GRCm39)	M134V	probably benign	Het
Pum2	T	A	12: 8,778,779 (GRCm39)		probably null	Het
Racgap1	T	C	15: 99,524,210 (GRCm39)	E399G	probably damaging	Het
Sbspon	A	T	1: 15,930,519 (GRCm39)	S156T	probably damaging	Het
Scn1a	T	C	2: 66,149,813 (GRCm39)	T927A	probably damaging	Het
Sec23ip	C	A	7: 128,354,520 (GRCm39)	S78*	probably null	Het
Serpina1d	G	A	12: 103,733,989 (GRCm39)	T105I	probably benign	Het
Slc25a21	T	A	12: 57,205,954 (GRCm39)	N26Y	probably benign	Het
Smim20	T	A	5: 53,435,258 (GRCm39)	D64E	probably damaging	Het
Spag17	T	G	3: 99,942,291 (GRCm39)	I772S	possibly damaging	Het
Tars2	T	C	3: 95,660,426 (GRCm39)	T99A	possibly damaging	Het
Tdrd1	C	T	19: 56,819,803 (GRCm39)	T101I	probably damaging	Het
Tldc2	T	G	2: 156,931,198 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,601,929 (GRCm39)	Y10251H	probably damaging	Het
Ush2a	A	G	1: 187,995,342 (GRCm39)	R38G	possibly damaging	Het
Usp19	T	C	9: 108,376,130 (GRCm39)	L991P	possibly damaging	Het
Vmn2r109	G	A	17: 20,760,973 (GRCm39)	P795S	possibly damaging	Het
Vmn2r26	T	C	6: 124,016,741 (GRCm39)	Y402H	probably benign	Het
Vmn2r-ps117	T	G	17: 19,045,095 (GRCm39)	I504R	probably benign	Het
Zfp551	A	T	7: 12,150,715 (GRCm39)	C231*	probably null	Het
Zfp607a	T	A	7: 27,577,790 (GRCm39)	C287S	possibly damaging	Het
Zim1	T	A	7: 6,690,706 (GRCm39)	T40S	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- GTCCAGAGCCAAGTATGAGTC -3'
(R):5'- ATACAAGTACCGTCCACCTTCTG -3'

Sequencing Primer
(F):5'- GCCAAGTATGAGTCCTACGATGC -3'
(R):5'- TGGGCTCCCCTGTCATCAG -3'

Posted On

2018-11-28