Mutagenetix > Incidental Mutation

Incidental Mutation 'R4575:Ccdc96'

342392

Institutional Source

Beutler Lab

Gene Symbol

Ccdc96

Ensembl Gene

ENSMUSG00000050677

Gene Name

coiled-coil domain containing 96

Synonyms

4921513E08Rik

MMRRC Submission

041798-MU

Accession Numbers

Essential gene?

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

Stock #

R4575 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36641932-36645515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36643419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 475 (V475A)

Ref Sequence

ENSEMBL: ENSMUSP00000059636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031094] [ENSMUST00000031097] [ENSMUST00000060100] [ENSMUST00000119916] [ENSMUST00000126077] [ENSMUST00000136189] [ENSMUST00000140607] [ENSMUST00000146430] [ENSMUST00000171385]

AlphaFold

Q9CR92

Predicted Effect

probably benign
Transcript: ENSMUST00000031094

SMART Domains

Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192

Domain	Start	End	E-Value	Type
low complexity region	159	174	N/A	INTRINSIC
Blast:TBC	316	375	1e-8	BLAST
TBC	399	635	1.49e-54	SMART

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

possibly damaging
Transcript: ENSMUST00000060100
AA Change: V475A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059636
Gene: ENSMUSG00000050677
AA Change: V475A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126077

SMART Domains

Protein: ENSMUSP00000114508
Gene: ENSMUSG00000029192

Domain	Start	End	E-Value	Type
Blast:TBC	35	94	5e-9	BLAST
TBC	118	354	1.49e-54	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136189

SMART Domains

Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192

Domain	Start	End	E-Value	Type
low complexity region	159	174	N/A	INTRINSIC
Blast:TBC	247	322	1e-32	BLAST
TBC	399	559	8.9e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140607

SMART Domains

Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192

Domain	Start	End	E-Value	Type
low complexity region	159	174	N/A	INTRINSIC
Blast:TBC	316	375	1e-8	BLAST
TBC	399	635	1.49e-54	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146430

SMART Domains

Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192

Domain	Start	End	E-Value	Type
low complexity region	159	174	N/A	INTRINSIC
Blast:TBC	316	375	1e-8	BLAST
TBC	399	635	1.49e-54	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171385

SMART Domains

Protein: ENSMUSP00000131876
Gene: ENSMUSG00000029192

Domain	Start	End	E-Value	Type
Blast:TBC	35	94	5e-9	BLAST
TBC	118	354	1.49e-54	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	C	T	7: 130,964,325 (GRCm39)	A26T	probably benign	Het
4930408O17Rik	C	A	12: 104,837,527 (GRCm39)		noncoding transcript	Het
Adgrf3	T	A	5: 30,407,255 (GRCm39)	M224L	probably benign	Het
Ago3	T	C	4: 126,240,475 (GRCm39)	H129R	probably benign	Het
Aoc1l1	C	T	6: 48,954,502 (GRCm39)	Q547*	probably null	Het
Asb10	C	T	5: 24,745,052 (GRCm39)	R99H	probably damaging	Het
Auts2	C	T	5: 132,287,773 (GRCm39)	G70E	probably benign	Het
Bltp3a	T	C	17: 28,106,477 (GRCm39)	V1001A	probably benign	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Clec4b2	T	A	6: 123,150,639 (GRCm39)	L16Q	probably damaging	Het
Cyp2c68	T	A	19: 39,722,805 (GRCm39)	I248L	probably benign	Het
Cyp2d22	G	T	15: 82,256,133 (GRCm39)	A167E	possibly damaging	Het
Dpysl3	T	C	18: 43,475,312 (GRCm39)	K382R	probably damaging	Het
Dscam	A	G	16: 96,626,823 (GRCm39)	I362T	possibly damaging	Het
Edil3	T	C	13: 89,467,850 (GRCm39)	Y452H	probably damaging	Het
Elfn1	T	C	5: 139,957,808 (GRCm39)	S271P	probably benign	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
Fgd4	T	C	16: 16,254,896 (GRCm39)	Q507R	probably damaging	Het
Frem3	A	G	8: 81,342,704 (GRCm39)	T1666A	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Gabrr1	C	T	4: 33,158,175 (GRCm39)	T266I	possibly damaging	Het
Gm11563	G	A	11: 99,549,275 (GRCm39)	P160S	unknown	Het
Gm12790	T	C	4: 101,825,324 (GRCm39)	D30G	probably benign	Het
Haus8	A	G	8: 71,715,736 (GRCm39)	V34A	probably damaging	Het
Hgf	T	C	5: 16,777,599 (GRCm39)	Y199H	probably benign	Het
Ide	G	A	19: 37,249,604 (GRCm39)	P916L	unknown	Het
Igsf10	G	T	3: 59,237,521 (GRCm39)	H887N	probably benign	Het
Iigp1	A	T	18: 60,523,218 (GRCm39)	H112L	probably benign	Het
Impg2	A	G	16: 56,082,095 (GRCm39)	E1009G	probably damaging	Het
Khdc1a	A	C	1: 21,420,653 (GRCm39)	D91A	probably damaging	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
Kntc1	T	G	5: 123,904,018 (GRCm39)	L345R	probably damaging	Het
Kprp	T	C	3: 92,731,271 (GRCm39)	N593S	probably benign	Het
Krt1c	T	G	15: 101,722,921 (GRCm39)	D359A	probably damaging	Het
Krt35	A	T	11: 99,986,725 (GRCm39)	N96K	probably benign	Het
Lnx1	T	C	5: 74,846,204 (GRCm39)	D82G	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nfib	A	T	4: 82,215,048 (GRCm39)	S518R	probably damaging	Het
Nol6	T	C	4: 41,120,299 (GRCm39)	I473V	probably benign	Het
Obscn	T	C	11: 59,013,598 (GRCm39)	D1108G	probably damaging	Het
Or52m2	A	T	7: 102,263,976 (GRCm39)	C73*	probably null	Het
Or7g12	C	A	9: 18,900,001 (GRCm39)	S239*	probably null	Het
Otop1	T	C	5: 38,457,065 (GRCm39)	Y275H	probably damaging	Het
Ppp1r14c	G	T	10: 3,316,912 (GRCm39)	K82N	probably damaging	Het
Prr14l	T	C	5: 32,950,988 (GRCm39)	E1935G	probably damaging	Het
Ptprd	C	T	4: 76,162,023 (GRCm39)	V78I	possibly damaging	Het
Rfc4	T	A	16: 22,933,179 (GRCm39)		probably benign	Het
Rpn2	C	A	2: 157,137,244 (GRCm39)	A209E	probably damaging	Het
Sf1	T	C	19: 6,425,943 (GRCm39)		probably benign	Het
Sft2d1rt	T	C	11: 45,942,679 (GRCm39)	D148G	probably damaging	Het
Skint5	T	A	4: 113,524,390 (GRCm39)	S864C	unknown	Het
Slc2a10	C	G	2: 165,358,241 (GRCm39)	N455K	probably damaging	Het
Snrnp200	T	A	2: 127,076,986 (GRCm39)	I1673N	probably benign	Het
Sri	G	T	5: 8,113,693 (GRCm39)	G152W	probably damaging	Het
Srpra	T	C	9: 35,125,904 (GRCm39)	I394T	possibly damaging	Het
Svop	C	T	5: 114,203,743 (GRCm39)	V13M	probably damaging	Het
Traf3ip2	A	G	10: 39,510,650 (GRCm39)	N308D	probably damaging	Het
Vmn2r125	T	A	4: 156,702,272 (GRCm39)	D19E	probably null	Het
Vmn2r16	A	T	5: 109,511,665 (GRCm39)	Y624F	possibly 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
R0167:Ccdc96	UTSW	5	36,642,497 (GRCm39)	missense	probably benign	0.18
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
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'- TCGAGAACGTGCAGCTGAAG -3'
(R):5'- CAAGTCTCGGAGGAGTGATTC -3'

Sequencing Primer
(F):5'- AGCAGAGCCTGGTACACTTTG -3'
(R):5'- GGAGTGATTCCTTACCCAGAAGC -3'

Posted On

2015-09-24