Mutagenetix > Incidental Mutation

Incidental Mutation 'R6434:Ccdc96'

518689

Institutional Source

Beutler Lab

Gene Symbol

Ccdc96

Ensembl Gene

ENSMUSG00000050677

Gene Name

coiled-coil domain containing 96

Synonyms

4921513E08Rik

MMRRC Submission

044572-MU

Accession Numbers

Essential gene?

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

Stock #

R6434 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36641932-36645515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 36643707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 571 (V571G)

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

probably damaging
Transcript: ENSMUST00000060100
AA Change: V571G

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

SMART Domains

Protein: ENSMUSP00000059636
Gene: ENSMUSG00000050677
AA Change: V571G

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

Meta Mutation Damage Score

0.4068

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	A	C	16: 52,109,190 (GRCm39)		probably null	Het
Ankle2	A	G	5: 110,401,759 (GRCm39)	Y807C	probably damaging	Het
Arhgef26	A	C	3: 62,336,335 (GRCm39)	M625L	probably damaging	Het
Aspdh	G	A	7: 44,116,474 (GRCm39)	A86T	probably damaging	Het
Atl1	G	T	12: 70,006,199 (GRCm39)	E502*	probably null	Het
Atp6v1c1	T	C	15: 38,677,790 (GRCm39)	F105S	probably damaging	Het
Auh	C	A	13: 53,083,446 (GRCm39)	G17C	probably benign	Het
Ccdc81	T	C	7: 89,525,352 (GRCm39)	Y474C	probably damaging	Het
Ccdc82	T	C	9: 13,251,659 (GRCm39)		probably benign	Het
Col6a5	C	A	9: 105,814,544 (GRCm39)	E489D	unknown	Het
Dchs2	T	A	3: 83,176,577 (GRCm39)	I845N	probably damaging	Het
Dnajc11	T	C	4: 152,063,751 (GRCm39)	V449A	probably damaging	Het
Ect2	A	T	3: 27,193,268 (GRCm39)	Y269*	probably null	Het
Egfr	T	C	11: 16,819,294 (GRCm39)	Y275H	probably benign	Het
Fan1	T	A	7: 64,004,129 (GRCm39)	D779V	probably damaging	Het
Fancm	T	C	12: 65,123,942 (GRCm39)	V200A	probably damaging	Het
Frem1	A	G	4: 82,884,253 (GRCm39)	I1214T	probably benign	Het
Gm3415	T	A	5: 146,494,752 (GRCm39)	F138L	probably benign	Het
Gtse1	C	A	15: 85,759,370 (GRCm39)	T626K	probably benign	Het
Herc1	T	A	9: 66,393,464 (GRCm39)	H4114Q	probably damaging	Het
Ifi44	T	A	3: 151,454,826 (GRCm39)	N133I	probably benign	Het
Ilf3	A	G	9: 21,314,447 (GRCm39)		probably benign	Het
Inpp4a	A	G	1: 37,437,919 (GRCm39)	T593A	probably damaging	Het
Iqgap2	A	T	13: 95,819,441 (GRCm39)	W634R	possibly damaging	Het
Kcnh4	T	A	11: 100,641,105 (GRCm39)	N448I	probably damaging	Het
Klhl33	G	A	14: 51,130,564 (GRCm39)	A310V	probably damaging	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Lrig2	T	C	3: 104,398,863 (GRCm39)	K222E	possibly damaging	Het
Manba	G	A	3: 135,217,734 (GRCm39)		probably null	Het
Mga	A	T	2: 119,754,419 (GRCm39)	Q976L	probably damaging	Het
Mtmr4	A	G	11: 87,504,309 (GRCm39)	D1086G	probably damaging	Het
Muc20	A	G	16: 32,615,176 (GRCm39)	V67A	probably benign	Het
Myh3	T	A	11: 66,973,193 (GRCm39)	L97Q	probably damaging	Het
Nars1	T	C	18: 64,640,872 (GRCm39)	T195A	probably benign	Het
Npat	A	T	9: 53,474,739 (GRCm39)	I844L	possibly damaging	Het
Nrxn3	T	C	12: 88,762,285 (GRCm39)	F111L	probably benign	Het
Obp2b	T	C	2: 25,628,599 (GRCm39)	Y118H	probably damaging	Het
Or5w1	T	A	2: 87,486,558 (GRCm39)	K236*	probably null	Het
Or7e170	A	T	9: 19,795,141 (GRCm39)	Y153*	probably null	Het
Patj	A	G	4: 98,379,866 (GRCm39)	D215G	probably damaging	Het
Pex1	T	A	5: 3,680,196 (GRCm39)	Y979*	probably null	Het
Septin3	G	A	15: 82,163,804 (GRCm39)	V54I	possibly damaging	Het
Shc3	A	G	13: 51,603,326 (GRCm39)	Y260H	probably damaging	Het
Simc1	A	G	13: 54,674,477 (GRCm39)	T942A	probably benign	Het
Slco1c1	T	C	6: 141,493,576 (GRCm39)	S371P	probably damaging	Het
Snrnp200	T	A	2: 127,080,574 (GRCm39)	I2029N	probably damaging	Het
Syne1	A	G	10: 5,268,422 (GRCm39)	V2089A	probably benign	Het
Syne2	T	C	12: 76,088,230 (GRCm39)	S5016P	probably damaging	Het
Tril	G	C	6: 53,795,493 (GRCm39)	D576E	probably damaging	Het
Tubb2b	C	T	13: 34,311,561 (GRCm39)	A411T	probably damaging	Het
Ubr4	T	C	4: 139,156,949 (GRCm39)	Y2325H	probably damaging	Het
Utp20	A	T	10: 88,608,395 (GRCm39)	C1547*	probably null	Het
Utrn	A	T	10: 12,401,171 (GRCm39)	W98R	probably damaging	Het
Vps35	C	T	8: 86,000,124 (GRCm39)	D501N	possibly damaging	Het
Wdr48	T	C	9: 119,745,879 (GRCm39)	S421P	possibly damaging	Het
Yju2b	A	G	8: 84,989,630 (GRCm39)	I63T	probably damaging	Het
Zfp719	C	A	7: 43,240,412 (GRCm39)	H667N	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
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
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
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'- CCTAGGAAGAGACCTGTTGACG -3'
(R):5'- CTAGCTGGAAGTGTTCAGCAG -3'

Sequencing Primer
(F):5'- GACCTGTTGACGAAGACAAAAC -3'
(R):5'- TGTTCAGCAGGAATTTGAAAGCTG -3'

Posted On

2018-05-24