Mutagenetix > Incidental Mutation

Incidental Mutation 'R6766:Ccdc68'

531952

Institutional Source

Beutler Lab

Gene Symbol

Ccdc68

Ensembl Gene

ENSMUSG00000038903

Gene Name

coiled-coil domain containing 68

Synonyms

MMRRC Submission

044882-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6766 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70058497-70102555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70099861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 290 (N290D)

Ref Sequence

ENSEMBL: ENSMUSP00000046197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043929] [ENSMUST00000080050]

AlphaFold

Q8BVC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043929
AA Change: N290D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046197
Gene: ENSMUSG00000038903
AA Change: N290D

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
coiled coil region	86	120	N/A	INTRINSIC
coiled coil region	160	223	N/A	INTRINSIC
coiled coil region	250	303	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000080050
AA Change: N199D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078959
Gene: ENSMUSG00000038903
AA Change: N199D

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
coiled coil region	86	120	N/A	INTRINSIC
coiled coil region	160	206	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	G	A	8: 25,362,646 (GRCm39)	S17L	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Ankrd34c	A	G	9: 89,611,381 (GRCm39)	V320A	probably benign	Het
Aox1	C	A	1: 58,388,227 (GRCm39)	L1112I	possibly damaging	Het
Arap2	A	C	5: 62,834,443 (GRCm39)		probably null	Het
Atm	A	T	9: 53,401,582 (GRCm39)	I1429N	probably damaging	Het
Chst1	T	C	2: 92,443,542 (GRCm39)	W5R	probably damaging	Het
Clip1	G	T	5: 123,752,827 (GRCm39)		probably benign	Het
Crebbp	T	C	16: 3,935,364 (GRCm39)	T842A	probably damaging	Het
Cyp2b13	T	C	7: 25,781,236 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock1	T	A	7: 134,358,522 (GRCm39)		probably null	Het
Dst	A	G	1: 34,333,564 (GRCm39)	I4800V	probably damaging	Het
Efcab7	CAAGTAAAGTAA	CAAGTAA	4: 99,735,161 (GRCm39)		probably null	Het
Epb41l2	C	T	10: 25,348,990 (GRCm39)	Q382*	probably null	Het
Fam83e	A	G	7: 45,376,070 (GRCm39)	D261G	probably damaging	Het
Ifnk	T	G	4: 35,152,134 (GRCm39)	S21A	possibly damaging	Het
Ift122	A	G	6: 115,903,204 (GRCm39)	H1157R	probably benign	Het
Ighv1-67	T	C	12: 115,567,654 (GRCm39)	K67R	possibly damaging	Het
Inpp4a	C	A	1: 37,411,422 (GRCm39)	A97D	probably damaging	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Irgm1	T	C	11: 48,756,928 (GRCm39)	I294M	possibly damaging	Het
Isoc2b	C	T	7: 4,854,061 (GRCm39)	V104M	probably damaging	Het
Kif2c	A	C	4: 117,024,280 (GRCm39)	S311R	probably benign	Het
Morn3	G	A	5: 123,179,270 (GRCm39)	A60V	probably damaging	Het
Oit3	T	C	10: 59,274,534 (GRCm39)	N89D	probably damaging	Het
Or14c40	A	T	7: 86,313,293 (GRCm39)	N141I	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or4c127	T	C	2: 89,832,876 (GRCm39)	V42A	probably benign	Het
Or5d44	T	A	2: 88,142,095 (GRCm39)	Q15L	noncoding transcript	Het
Or8b48	A	C	9: 38,493,069 (GRCm39)	R165S	probably damaging	Het
Pan2	C	A	10: 128,150,381 (GRCm39)	N708K	possibly damaging	Het
Parp1	T	A	1: 180,425,927 (GRCm39)	V886E	probably damaging	Het
Pcdha8	C	A	18: 37,127,753 (GRCm39)	A745E	probably benign	Het
Pcyox1	C	T	6: 86,371,390 (GRCm39)		probably null	Het
Prl2c2	A	T	13: 13,176,713 (GRCm39)		probably null	Het
Samd1	T	C	8: 84,726,361 (GRCm39)	S473P	possibly damaging	Het
Slc26a1	A	T	5: 108,819,773 (GRCm39)	D475E	probably damaging	Het
Slco1c1	T	C	6: 141,493,535 (GRCm39)	V239A	possibly damaging	Het
Smo	T	A	6: 29,736,044 (GRCm39)	L12Q	unknown	Homo
Srpk1	C	T	17: 28,821,727 (GRCm39)	R229Q	possibly damaging	Het
Syn2	T	A	6: 115,216,362 (GRCm39)	F191L	probably damaging	Het
Syngr2	T	C	11: 117,704,261 (GRCm39)	V182A	probably benign	Het
Tarbp1	G	A	8: 127,174,139 (GRCm39)	A889V	probably benign	Het
Tbc1d2b	T	C	9: 90,108,262 (GRCm39)	T430A	probably benign	Het
Tmem217	T	A	17: 29,745,484 (GRCm39)	Y82F	probably damaging	Het
Ttll9	T	A	2: 152,841,220 (GRCm39)	Y272*	probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vsig8	T	A	1: 172,388,143 (GRCm39)	M37K	probably benign	Het
Vwf	G	T	6: 125,616,339 (GRCm39)	D1218Y	unknown	Het
Wdr11	T	G	7: 129,226,036 (GRCm39)	M727R	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Yod1	T	A	1: 130,647,008 (GRCm39)	L295*	probably null	Het
Zfp113	G	T	5: 138,143,608 (GRCm39)	S214*	probably null	Het
Zfp438	T	A	18: 5,213,780 (GRCm39)	M393L	probably benign	Het
Zfp946	G	A	17: 22,674,752 (GRCm39)	C502Y	probably benign	Het

Other mutations in Ccdc68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01595:Ccdc68	APN	18	70,089,117 (GRCm39)	missense	probably benign	0.25
IGL02754:Ccdc68	APN	18	70,076,935 (GRCm39)	critical splice donor site	probably null
IGL02851:Ccdc68	APN	18	70,080,236 (GRCm39)	nonsense	probably null
R0412:Ccdc68	UTSW	18	70,093,510 (GRCm39)	missense	probably damaging	1.00
R0617:Ccdc68	UTSW	18	70,079,623 (GRCm39)	splice site	probably null
R1302:Ccdc68	UTSW	18	70,072,033 (GRCm39)	missense	probably damaging	1.00
R1497:Ccdc68	UTSW	18	70,093,585 (GRCm39)	intron	probably benign
R1553:Ccdc68	UTSW	18	70,073,192 (GRCm39)	missense	probably damaging	1.00
R1590:Ccdc68	UTSW	18	70,073,251 (GRCm39)	missense	probably benign	0.07
R1748:Ccdc68	UTSW	18	70,089,062 (GRCm39)	missense	probably benign	0.27
R5589:Ccdc68	UTSW	18	70,079,577 (GRCm39)	missense	probably benign
R7096:Ccdc68	UTSW	18	70,073,241 (GRCm39)	missense	probably damaging	0.96
R7359:Ccdc68	UTSW	18	70,089,123 (GRCm39)	missense	probably benign	0.02
R7485:Ccdc68	UTSW	18	70,102,084 (GRCm39)	missense	possibly damaging	0.94
R7849:Ccdc68	UTSW	18	70,080,246 (GRCm39)	missense	probably damaging	1.00
R8256:Ccdc68	UTSW	18	70,072,018 (GRCm39)	nonsense	probably null
R9229:Ccdc68	UTSW	18	70,080,203 (GRCm39)	missense	probably benign	0.31
R9374:Ccdc68	UTSW	18	70,089,113 (GRCm39)	missense	probably damaging	0.98
R9551:Ccdc68	UTSW	18	70,089,113 (GRCm39)	missense	probably damaging	0.98
R9552:Ccdc68	UTSW	18	70,089,113 (GRCm39)	missense	probably damaging	0.98
R9599:Ccdc68	UTSW	18	70,093,492 (GRCm39)	missense	probably damaging	1.00
X0065:Ccdc68	UTSW	18	70,094,532 (GRCm39)	missense	probably benign	0.17
Z1177:Ccdc68	UTSW	18	70,080,121 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGTGCATTAACATATTGTTTGCC -3'
(R):5'- GCAATGCTGAACAGTATTTGGG -3'

Sequencing Primer
(F):5'- ACATATTGTTTGCCTTGGTTTTAATG -3'
(R):5'- AATCTTCATCATCAACCTGGTGGG -3'

Posted On

2018-08-29