Mutagenetix > Incidental Mutation

Incidental Mutation 'R1473:Ccdc24'

165907

Institutional Source

Beutler Lab

Gene Symbol

Ccdc24

Ensembl Gene

ENSMUSG00000078588

Gene Name

coiled-coil domain containing 24

Synonyms

LOC381546

MMRRC Submission

039526-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117866524-117872557 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 117869904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030266] [ENSMUST00000030269] [ENSMUST00000063857] [ENSMUST00000084325] [ENSMUST00000106421] [ENSMUST00000106422] [ENSMUST00000131938] [ENSMUST00000149168] [ENSMUST00000163288] [ENSMUST00000164853] [ENSMUST00000166325] [ENSMUST00000167287] [ENSMUST00000171052] [ENSMUST00000169885] [ENSMUST00000167443]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030266

SMART Domains

Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	228	4.2e-59	PFAM
Pfam:Glyco_transf_7C	232	310	2.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030269

SMART Domains

Protein: ENSMUSP00000030269
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
Pfam:SNF	27	562	5.1e-234	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063857

SMART Domains

Protein: ENSMUSP00000066102
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
Pfam:SNF	27	562	5.1e-234	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084325

SMART Domains

Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106421

SMART Domains

Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106422

SMART Domains

Protein: ENSMUSP00000102030
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
coiled coil region	133	158	N/A	INTRINSIC
low complexity region	254	266	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130758

Predicted Effect

probably benign
Transcript: ENSMUST00000131938

Predicted Effect

probably benign
Transcript: ENSMUST00000149168

SMART Domains

Protein: ENSMUSP00000129359
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
low complexity region	91	116	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154439

Predicted Effect

probably benign
Transcript: ENSMUST00000163288

SMART Domains

Protein: ENSMUSP00000127289
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
Pfam:SNF	46	566	2.1e-212	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164716

Predicted Effect

probably benign
Transcript: ENSMUST00000164853

SMART Domains

Protein: ENSMUSP00000132114
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
coiled coil region	133	158	N/A	INTRINSIC
low complexity region	254	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166325

SMART Domains

Protein: ENSMUSP00000131493
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
coiled coil region	33	57	N/A	INTRINSIC
low complexity region	61	90	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000167287
AA Change: T83N

SMART Domains

Protein: ENSMUSP00000126161
Gene: ENSMUSG00000078588
AA Change: T83N

Domain	Start	End	E-Value	Type
coiled coil region	13	38	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171052

SMART Domains

Protein: ENSMUSP00000129502
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
Pfam:CCDC24	21	201	3.9e-67	PFAM
low complexity region	282	294	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170733

Predicted Effect

probably benign
Transcript: ENSMUST00000169885

SMART Domains

Protein: ENSMUSP00000127093
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
Pfam:SNF	1	450	1.2e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167443

SMART Domains

Protein: ENSMUSP00000128771
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	188	1.1e-24	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

98% (88/90)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,068,236 (GRCm38)	D342G	probably damaging	Het
Acad8	T	C	9: 26,979,041 (GRCm38)	T293A	probably benign	Het
Adamts13	C	A	2: 26,981,753 (GRCm38)	Y310*	probably null	Het
Adcy6	T	A	15: 98,592,743 (GRCm38)	Y1102F	probably damaging	Het
Ahctf1	A	G	1: 179,799,279 (GRCm38)	V18A	probably damaging	Het
Ahctf1	G	A	1: 179,776,108 (GRCm38)	T791M	probably benign	Het
Ampd3	T	G	7: 110,804,935 (GRCm38)	S564R	probably damaging	Het
Anapc1	A	T	2: 128,617,697 (GRCm38)	I1814K	possibly damaging	Het
Arl4c	A	T	1: 88,701,609 (GRCm38)	L19Q	probably damaging	Het
Atp6v0e2	T	C	6: 48,539,264 (GRCm38)	Y49H	probably damaging	Het
Clcn6	A	C	4: 148,024,156 (GRCm38)	F139V	possibly damaging	Het
Col2a1	A	G	15: 97,982,908 (GRCm38)		probably benign	Het
Crip2	T	A	12: 113,143,500 (GRCm38)	C29S	probably damaging	Het
Cyp2a4	A	C	7: 26,314,763 (GRCm38)	N455T	probably benign	Het
Dhcr7	A	G	7: 143,841,368 (GRCm38)	D113G	probably damaging	Het
Dhcr7	T	C	7: 143,847,068 (GRCm38)	Y323H	probably damaging	Het
Dnah7a	A	C	1: 53,496,014 (GRCm38)	S2696A	probably benign	Het
Dnajc12	A	G	10: 63,397,244 (GRCm38)	T55A	probably benign	Het
Drosha	G	A	15: 12,912,520 (GRCm38)	E1075K	probably benign	Het
Duox2	A	G	2: 122,287,121 (GRCm38)	S911P	possibly damaging	Het
Ephb2	G	A	4: 136,694,058 (GRCm38)	A327V	possibly damaging	Het
Espl1	C	T	15: 102,320,443 (GRCm38)	T1711I	possibly damaging	Het
Fmnl2	A	G	2: 52,858,207 (GRCm38)	K22R	possibly damaging	Het
Fzd6	T	C	15: 39,030,963 (GRCm38)	F175L	probably damaging	Het
Gm4737	T	A	16: 46,154,819 (GRCm38)	E65V	probably damaging	Het
Gm5155	A	G	7: 17,905,091 (GRCm38)		noncoding transcript	Het
Gm6526	A	G	14: 43,748,846 (GRCm38)	I76M	probably damaging	Het
Gm6583	T	C	5: 112,354,549 (GRCm38)	T430A	probably benign	Het
Gm9881	A	T	16: 91,170,735 (GRCm38)	F34I	unknown	Het
Gm9892	T	C	8: 52,196,614 (GRCm38)	D148G	possibly damaging	Het
Grb10	C	T	11: 11,934,249 (GRCm38)	V486I	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778 (GRCm38)	A488T	probably damaging	Het
Hdac4	T	C	1: 92,029,968 (GRCm38)	H108R	possibly damaging	Het
Hist2h2bb	G	T	3: 96,270,072 (GRCm38)	L107F	probably damaging	Het
Hmcn1	G	A	1: 150,772,552 (GRCm38)	T661I	probably benign	Het
Icam1	T	A	9: 21,027,876 (GRCm38)	I515N	probably damaging	Het
Ifi208	A	G	1: 173,695,654 (GRCm38)	R497G	possibly damaging	Het
Igsf10	A	T	3: 59,318,767 (GRCm38)	V2495E	probably damaging	Het
Iqgap1	T	C	7: 80,734,011 (GRCm38)	M1102V	probably benign	Het
Itgb4	A	T	11: 115,984,047 (GRCm38)	N410I	probably benign	Het
Jup	T	C	11: 100,379,601 (GRCm38)	H360R	possibly damaging	Het
Kif20b	T	A	19: 34,974,496 (GRCm38)	S1685T	possibly damaging	Het
Lins1	T	C	7: 66,712,046 (GRCm38)		probably null	Het
Lrig1	T	A	6: 94,607,313 (GRCm38)	T917S	probably benign	Het
Mast2	A	G	4: 116,311,955 (GRCm38)	S814P	probably damaging	Het
Mast4	T	C	13: 102,772,519 (GRCm38)	T483A	probably damaging	Het
Mcpt1	T	C	14: 56,019,533 (GRCm38)	M176T	probably benign	Het
Mettl22	A	G	16: 8,473,961 (GRCm38)	Q38R	probably damaging	Het
Mrm2	T	C	5: 140,328,688 (GRCm38)	T131A	probably benign	Het
Nde1	T	G	16: 14,185,864 (GRCm38)	F71V	probably benign	Het
Nxn	C	T	11: 76,263,187 (GRCm38)	G274D	possibly damaging	Het
Olfr1230	A	T	2: 89,296,906 (GRCm38)	Y121*	probably null	Het
Olfr183	A	T	16: 58,999,912 (GRCm38)	T76S	probably benign	Het
Olfr414	T	A	1: 174,430,643 (GRCm38)	W72R	probably damaging	Het
Olfr427	G	T	1: 174,099,749 (GRCm38)	C97F	probably damaging	Het
Osbp2	T	C	11: 3,717,175 (GRCm38)		probably null	Het
Otud7a	C	A	7: 63,754,629 (GRCm38)		probably benign	Het
Phf3	G	A	1: 30,805,940 (GRCm38)	L1313F	probably damaging	Het
Pkhd1	A	T	1: 20,522,983 (GRCm38)	D1635E	probably benign	Het
Plpp1	A	G	13: 112,859,664 (GRCm38)	H171R	probably damaging	Het
Pofut1	A	G	2: 153,261,246 (GRCm38)	M172V	probably damaging	Het
Prmt5	A	G	14: 54,508,915 (GRCm38)	F580L	probably damaging	Het
Rab11fip3	A	T	17: 25,991,322 (GRCm38)	L987Q	probably damaging	Het
Retnlb	T	A	16: 48,818,665 (GRCm38)	C76*	probably null	Het
Rnf38	T	C	4: 44,131,584 (GRCm38)	N399S	probably benign	Het
Sbk1	A	G	7: 126,292,252 (GRCm38)	E286G	possibly damaging	Het
Scin	T	A	12: 40,077,502 (GRCm38)	T430S	probably benign	Het
Sgsm1	T	A	5: 113,263,257 (GRCm38)	T868S	probably benign	Het
Sipa1l1	G	A	12: 82,341,111 (GRCm38)	R37H	probably damaging	Het
Smchd1	A	T	17: 71,361,837 (GRCm38)		probably benign	Het
Sned1	G	A	1: 93,281,654 (GRCm38)	V830M	possibly damaging	Het
Soga1	A	T	2: 157,020,448 (GRCm38)	Y1520*	probably null	Het
Stk32c	C	T	7: 139,125,179 (GRCm38)	R23Q	probably damaging	Het
Sult1d1	A	G	5: 87,564,739 (GRCm38)	M82T	probably benign	Het
Tat	T	C	8: 109,996,918 (GRCm38)	L346P	probably damaging	Het
Tenm3	C	A	8: 48,310,625 (GRCm38)	G789V	probably damaging	Het
Thsd7a	C	T	6: 12,338,622 (GRCm38)	S1203N	probably benign	Het
Tmem191c	G	A	16: 17,277,962 (GRCm38)		probably null	Het
Tmem268	A	G	4: 63,580,338 (GRCm38)	T239A	probably damaging	Het
Tmem82	A	C	4: 141,616,278 (GRCm38)	L227R	possibly damaging	Het
Ttn	A	T	2: 76,727,032 (GRCm38)	I29906N	probably damaging	Het
Txndc15	T	C	13: 55,721,574 (GRCm38)		probably benign	Het
Ubqln4	A	G	3: 88,565,845 (GRCm38)	I536V	probably benign	Het
Unc80	C	T	1: 66,521,581 (GRCm38)	H823Y	possibly damaging	Het
Vmn2r102	A	T	17: 19,694,581 (GRCm38)	I803F	probably benign	Het
Vmn2r6	G	T	3: 64,538,158 (GRCm38)	Y715*	probably null	Het
Vmn2r74	A	T	7: 85,961,410 (GRCm38)	C25S	probably damaging	Het
Wdr38	A	G	2: 39,000,979 (GRCm38)	T261A	probably benign	Het
Zfp653	T	C	9: 22,058,220 (GRCm38)	E250G	possibly damaging	Het

Other mutations in Ccdc24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Ccdc24	APN	4	117,872,046 (GRCm38)	missense	probably damaging	1.00
IGL02396:Ccdc24	APN	4	117,869,629 (GRCm38)	missense	possibly damaging	0.91
IGL03122:Ccdc24	APN	4	117,871,745 (GRCm38)	critical splice donor site	probably null
fusarium	UTSW	4	117,871,177 (GRCm38)	nonsense	probably null
R1488:Ccdc24	UTSW	4	117,870,568 (GRCm38)	missense	possibly damaging	0.88
R1986:Ccdc24	UTSW	4	117,872,016 (GRCm38)	missense	probably damaging	1.00
R2233:Ccdc24	UTSW	4	117,869,916 (GRCm38)	missense	possibly damaging	0.53
R4983:Ccdc24	UTSW	4	117,872,100 (GRCm38)	missense	probably benign	0.06
R5250:Ccdc24	UTSW	4	117,869,629 (GRCm38)	missense	possibly damaging	0.91
R5677:Ccdc24	UTSW	4	117,869,880 (GRCm38)	intron	probably benign
R6092:Ccdc24	UTSW	4	117,872,448 (GRCm38)	nonsense	probably null
R6265:Ccdc24	UTSW	4	117,871,177 (GRCm38)	nonsense	probably null
R6284:Ccdc24	UTSW	4	117,869,653 (GRCm38)	splice site	probably null
R6736:Ccdc24	UTSW	4	117,870,535 (GRCm38)	missense	possibly damaging	0.81
R6814:Ccdc24	UTSW	4	117,869,926 (GRCm38)	missense	probably benign	0.02
R6872:Ccdc24	UTSW	4	117,869,926 (GRCm38)	missense	probably benign	0.02
R7016:Ccdc24	UTSW	4	117,871,116 (GRCm38)	missense	probably null	1.00
R7073:Ccdc24	UTSW	4	117,872,004 (GRCm38)	missense	probably damaging	1.00
R9151:Ccdc24	UTSW	4	117,869,905 (GRCm38)	missense	unknown
R9199:Ccdc24	UTSW	4	117,871,116 (GRCm38)	missense	probably null	1.00
R9345:Ccdc24	UTSW	4	117,872,494 (GRCm38)	nonsense	probably null
R9443:Ccdc24	UTSW	4	117,871,158 (GRCm38)	missense	probably benign	0.00
R9597:Ccdc24	UTSW	4	117,872,151 (GRCm38)	missense	probably damaging	1.00
Z1088:Ccdc24	UTSW	4	117,871,063 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGATGCTGCACTGGAAACTGATG -3'
(R):5'- AAATGCCTACCCTGGGAGGTAAGG -3'

Sequencing Primer
(F):5'- TAGCTGTACCGAAGTTGCC -3'
(R):5'- TGGGAGGTAAGGTCCCCAG -3'

Posted On

2014-03-28