Mutagenetix > Incidental Mutation

Incidental Mutation 'R6632:Ccdc96'

525209

Institutional Source

Beutler Lab

Gene Symbol

Ccdc96

Ensembl Gene

ENSMUSG00000050677

Gene Name

coiled-coil domain containing 96

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36484588-36488172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36485189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 180 (E180K)

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: E180K

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000059636
Gene: ENSMUSG00000050677
AA Change: E180K

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

0.1939

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,281,067	S758P	possibly damaging	Het
Abca3	C	G	17: 24,384,470	D545E	probably benign	Het
Akap9	T	A	5: 4,013,842		probably null	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Arpp21	G	A	9: 112,127,356	Q518*	probably null	Het
Atp9b	G	A	18: 80,808,649	R410W	probably damaging	Het
Cacna2d3	T	C	14: 28,905,265	*265W	probably null	Het
Cep164	T	C	9: 45,779,790	K1231E	possibly damaging	Het
Cnot1	A	G	8: 95,773,267		probably benign	Het
Cpne2	T	C	8: 94,554,955	V206A	probably benign	Het
Dchs1	A	G	7: 105,761,878	Y1647H	probably damaging	Het
Dnaaf5	A	G	5: 139,170,333	T590A	probably benign	Het
Eif4g1	A	T	16: 20,685,520	I1068F	probably damaging	Het
Ephb4	A	T	5: 137,366,587	K639N	probably damaging	Het
Gcc2	A	G	10: 58,270,049		probably null	Het
Gm35315	A	C	5: 110,079,263	Y103*	probably null	Het
Hsd17b4	A	G	18: 50,179,102	K578R	possibly damaging	Het
Ice2	T	C	9: 69,428,452	S906P	probably benign	Het
Irx4	G	T	13: 73,268,426	A314S	probably benign	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Lrp1b	A	T	2: 40,725,442	W3650R	probably benign	Het
Mcoln3	C	T	3: 146,128,187	H161Y	probably benign	Het
Mphosph10	A	T	7: 64,385,819	M368K	probably damaging	Het
Msh2	A	C	17: 87,712,666	K567Q	possibly damaging	Het
N4bp3	T	C	11: 51,643,949	E429G	possibly damaging	Het
Nrxn3	G	A	12: 89,193,154	A17T	probably damaging	Het
Olfr1459	T	A	19: 13,146,188	Y157F	probably benign	Het
Olfr171	T	C	16: 19,625,023	T26A	probably benign	Het
P4ha2	G	T	11: 54,117,648	R227L	probably benign	Het
Pfkfb4	G	A	9: 109,009,562		probably null	Het
Ror1	A	G	4: 100,442,106	N892S	probably benign	Het
Scn9a	G	T	2: 66,483,502	D1957E	probably benign	Het
Sec24a	A	T	11: 51,713,649	Y713*	probably null	Het
Serpinb1b	T	A	13: 33,087,455	F70I	probably damaging	Het
Setdb1	T	C	3: 95,324,149	Y1284C	probably damaging	Het
Suco	A	T	1: 161,828,240	M1030K	possibly damaging	Het
Syne1	A	T	10: 5,215,667		probably null	Het

Other mutations in Ccdc96

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Ccdc96	APN	5	36485080	unclassified	probably benign
R0167:Ccdc96	UTSW	5	36485153	missense	probably benign	0.18
R0302:Ccdc96	UTSW	5	36486101	missense	possibly damaging	0.51
R0423:Ccdc96	UTSW	5	36485247	missense	probably benign	0.41
R0532:Ccdc96	UTSW	5	36486366	missense	probably benign	0.18
R3800:Ccdc96	UTSW	5	36486267	missense	probably damaging	1.00
R3977:Ccdc96	UTSW	5	36485166	missense	possibly damaging	0.96
R4575:Ccdc96	UTSW	5	36486075	missense	possibly damaging	0.88
R4720:Ccdc96	UTSW	5	36484875	unclassified	probably benign
R5476:Ccdc96	UTSW	5	36485637	missense	possibly damaging	0.83
R5945:Ccdc96	UTSW	5	36485850	missense	probably damaging	1.00
R5995:Ccdc96	UTSW	5	36486374	missense	probably damaging	0.99
R6434:Ccdc96	UTSW	5	36486363	missense	probably damaging	1.00
R6493:Ccdc96	UTSW	5	36486252	missense	probably damaging	0.99
R6633:Ccdc96	UTSW	5	36485189	missense	probably benign	0.07
R7395:Ccdc96	UTSW	5	36485265	missense	probably benign	0.29
R7819:Ccdc96	UTSW	5	36485985	missense	probably damaging	0.98
R8466:Ccdc96	UTSW	5	36484908	unclassified	probably benign
R9351:Ccdc96	UTSW	5	36484725	missense	unknown
X0022:Ccdc96	UTSW	5	36486374	missense	probably damaging	1.00
Z1176:Ccdc96	UTSW	5	36485594	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATGTTGAGGTCCCGGAAAGTC -3'
(R):5'- AAACTCTTCAGTGGACGCC -3'

Sequencing Primer
(F):5'- AGAGCCAGAGAGTCTGCCAC -3'
(R):5'- AGTGGACGCCCCTTTTTG -3'

Posted On

2018-06-22