Mutagenetix > Incidental Mutation

Incidental Mutation 'R0167:Ccdc96'

24218

Institutional Source

Beutler Lab

Gene Symbol

Ccdc96

Ensembl Gene

ENSMUSG00000050677

Gene Name

coiled-coil domain containing 96

Synonyms

4921513E08Rik

MMRRC Submission

038443-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0167 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

36641932-36645515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36642497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 168 (F168L)

Ref Sequence

ENSEMBL: ENSMUSP00000059636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031097] [ENSMUST00000060100] [ENSMUST00000119916]

AlphaFold

Q9CR92

Predicted Effect

probably benign
Transcript: ENSMUST00000031097

SMART Domains

Protein: ENSMUSP00000031097
Gene: ENSMUSG00000029196

Domain	Start	End	E-Value	Type
ZnF_ZZ	3	46	2.64e-5	SMART
SANT	66	116	1.75e-9	SMART
low complexity region	138	154	N/A	INTRINSIC
low complexity region	233	260	N/A	INTRINSIC
low complexity region	306	325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000060100
AA Change: F168L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000059636
Gene: ENSMUSG00000050677
AA Change: F168L

Domain	Start	End	E-Value	Type
low complexity region	37	50	N/A	INTRINSIC
SCOP:d1qbkb_	99	144	6e-3	SMART
low complexity region	223	234	N/A	INTRINSIC
coiled coil region	315	355	N/A	INTRINSIC
Pfam:DUF4201	394	570	9.5e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119916

SMART Domains

Protein: ENSMUSP00000114124
Gene: ENSMUSG00000029196

Domain	Start	End	E-Value	Type
Blast:SANT	16	41	2e-10	BLAST
low complexity region	63	79	N/A	INTRINSIC
low complexity region	158	185	N/A	INTRINSIC
low complexity region	231	250	N/A	INTRINSIC

Meta Mutation Damage Score

0.0695

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

95% (58/61)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,806,969 (GRCm39)	F431L	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Bltp3a	C	T	17: 28,099,176 (GRCm39)	T246M	possibly damaging	Het
Bsn	T	C	9: 108,003,185 (GRCm39)	T407A	probably benign	Het
Cckar	A	T	5: 53,863,795 (GRCm39)	S55R	probably damaging	Het
Cdh5	A	C	8: 104,863,367 (GRCm39)	I426L	possibly damaging	Het
Clcn1	T	C	6: 42,263,770 (GRCm39)	Y24H	probably damaging	Het
Clpx	G	A	9: 65,224,019 (GRCm39)	R271K	possibly damaging	Het
Col6a3	C	T	1: 90,725,895 (GRCm39)	G1978D	probably damaging	Het
Cpne2	T	C	8: 95,295,207 (GRCm39)		probably benign	Het
D630023F18Rik	A	G	1: 65,156,340 (GRCm39)	V51A	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dlk2	C	A	17: 46,613,530 (GRCm39)	R262S	possibly damaging	Het
Dubr	G	T	16: 50,553,007 (GRCm39)		noncoding transcript	Het
Elane	T	A	10: 79,722,933 (GRCm39)		probably null	Het
Eya2	T	G	2: 165,558,032 (GRCm39)	S209R	possibly damaging	Het
Fam171a1	C	T	2: 3,187,469 (GRCm39)	S112L	probably damaging	Het
Fsip2	T	A	2: 82,811,151 (GRCm39)	M2490K	possibly damaging	Het
Galnt14	T	C	17: 73,829,715 (GRCm39)	T277A	probably damaging	Het
Golga1	T	C	2: 38,937,660 (GRCm39)	N128S	probably benign	Het
H1f6	T	C	13: 23,879,886 (GRCm39)	V13A	probably benign	Het
Hdac2	T	C	10: 36,876,368 (GRCm39)	V461A	probably benign	Het
Hey2	A	G	10: 30,716,661 (GRCm39)	V34A	probably benign	Het
Ift22	T	C	5: 136,940,745 (GRCm39)	C137R	probably benign	Het
Lrp2	T	C	2: 69,256,002 (GRCm39)	D4657G	possibly damaging	Het
Lrrn3	T	A	12: 41,504,014 (GRCm39)	Q101L	probably damaging	Het
Med25	A	G	7: 44,532,521 (GRCm39)		probably null	Het
Mup5	T	A	4: 61,752,019 (GRCm39)		probably null	Het
Or51aa5	A	T	7: 103,166,708 (GRCm39)	Y294*	probably null	Het
Or5ac23	A	T	16: 59,149,337 (GRCm39)	C178*	probably null	Het
Or9q2	T	C	19: 13,772,931 (GRCm39)	T15A	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Parg	T	C	14: 31,939,693 (GRCm39)		probably null	Het
Prep	A	G	10: 45,034,326 (GRCm39)		probably null	Het
Prss1l	T	A	6: 41,373,195 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,385,055 (GRCm39)		probably null	Het
Rbbp8	T	A	18: 11,793,979 (GRCm39)	Y30*	probably null	Het
Rhbdd1	T	C	1: 82,320,505 (GRCm39)	V163A	probably benign	Het
Setd2	T	A	9: 110,402,850 (GRCm39)	N1830K	probably damaging	Het
Shc4	T	G	2: 125,564,933 (GRCm39)	N122T	probably benign	Het
Shroom3	T	C	5: 93,096,254 (GRCm39)		probably benign	Het
Snx14	A	T	9: 88,289,469 (GRCm39)	L261Q	probably damaging	Het
St8sia1	A	G	6: 142,859,907 (GRCm39)		probably benign	Het
Thbs2	A	T	17: 14,887,787 (GRCm39)		probably benign	Het
Tpp2	T	C	1: 44,009,648 (GRCm39)	V494A	probably benign	Het
Trdmt1	A	T	2: 13,520,829 (GRCm39)	F358I	probably damaging	Het
Ttn	T	A	2: 76,719,867 (GRCm39)		probably benign	Het
Uggt1	A	G	1: 36,209,278 (GRCm39)		probably null	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vstm2a	T	A	11: 16,208,044 (GRCm39)	F13I	probably damaging	Het
Zfp804a	T	G	2: 82,086,860 (GRCm39)	F230V	probably damaging	Het

Other mutations in Ccdc96

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Ccdc96	APN	5	36,642,424 (GRCm39)	unclassified	probably benign
R0302:Ccdc96	UTSW	5	36,643,445 (GRCm39)	missense	possibly damaging	0.51
R0423:Ccdc96	UTSW	5	36,642,591 (GRCm39)	missense	probably benign	0.41
R0532:Ccdc96	UTSW	5	36,643,710 (GRCm39)	missense	probably benign	0.18
R3800:Ccdc96	UTSW	5	36,643,611 (GRCm39)	missense	probably damaging	1.00
R3977:Ccdc96	UTSW	5	36,642,510 (GRCm39)	missense	possibly damaging	0.96
R4575:Ccdc96	UTSW	5	36,643,419 (GRCm39)	missense	possibly damaging	0.88
R4720:Ccdc96	UTSW	5	36,642,219 (GRCm39)	unclassified	probably benign
R5476:Ccdc96	UTSW	5	36,642,981 (GRCm39)	missense	possibly damaging	0.83
R5945:Ccdc96	UTSW	5	36,643,194 (GRCm39)	missense	probably damaging	1.00
R5995:Ccdc96	UTSW	5	36,643,718 (GRCm39)	missense	probably damaging	0.99
R6434:Ccdc96	UTSW	5	36,643,707 (GRCm39)	missense	probably damaging	1.00
R6493:Ccdc96	UTSW	5	36,643,596 (GRCm39)	missense	probably damaging	0.99
R6632:Ccdc96	UTSW	5	36,642,533 (GRCm39)	missense	probably benign	0.07
R6633:Ccdc96	UTSW	5	36,642,533 (GRCm39)	missense	probably benign	0.07
R7395:Ccdc96	UTSW	5	36,642,609 (GRCm39)	missense	probably benign	0.29
R7819:Ccdc96	UTSW	5	36,643,329 (GRCm39)	missense	probably damaging	0.98
R8466:Ccdc96	UTSW	5	36,642,252 (GRCm39)	unclassified	probably benign
R9351:Ccdc96	UTSW	5	36,642,069 (GRCm39)	missense	unknown
X0022:Ccdc96	UTSW	5	36,643,718 (GRCm39)	missense	probably damaging	1.00
Z1176:Ccdc96	UTSW	5	36,642,938 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATTACGCGCATGTTGAGGTCCC -3'
(R):5'- ATAACGGTTCCGCTCCACTAGCAG -3'

Sequencing Primer
(F):5'- ATGTTGAGGTCCCGGAAAGTC -3'
(R):5'- TCAAACTCTTCAGTGGACGC -3'

Posted On

2013-04-16