Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01135:Cc2d1a'

278206

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cc2d1a

Ensembl Gene

ENSMUSG00000036686

Gene Name

coiled-coil and C2 domain containing 1A

Synonyms

Freud-1, Tape

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.352) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

84132828-84147936 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 84143404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 161 (H161N)

Ref Sequence

ENSEMBL: ENSMUSP00000112556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040383] [ENSMUST00000093375] [ENSMUST00000117424] [ENSMUST00000118856] [ENSMUST00000143833]

AlphaFold

Q8K1A6

Predicted Effect

probably benign
Transcript: ENSMUST00000040383
AA Change: H206N

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000046449
Gene: ENSMUSG00000036686
AA Change: H206N

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
DM14	137	194	1.02e-14	SMART
low complexity region	195	206	N/A	INTRINSIC
low complexity region	229	238	N/A	INTRINSIC
DM14	250	308	8.7e-23	SMART
DM14	342	400	7.44e-31	SMART
low complexity region	457	478	N/A	INTRINSIC
DM14	487	545	4.62e-27	SMART
C2	649	763	5.08e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093375

SMART Domains

Protein: ENSMUSP00000091067
Gene: ENSMUSG00000008129

Domain	Start	End	E-Value	Type
low complexity region	226	241	N/A	INTRINSIC
low complexity region	291	306	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117424
AA Change: H161N

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112556
Gene: ENSMUSG00000036686
AA Change: H161N

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
low complexity region	83	110	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC
DM14	205	263	8.7e-23	SMART
DM14	297	355	7.44e-31	SMART
low complexity region	411	432	N/A	INTRINSIC
DM14	441	499	4.62e-27	SMART
C2	603	717	5.08e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118856

SMART Domains

Protein: ENSMUSP00000113651
Gene: ENSMUSG00000008129

Domain	Start	End	E-Value	Type
Pfam:DUF4671	1	193	2.1e-62	PFAM
Pfam:DUF4671	181	600	7.3e-131	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126364

Predicted Effect

probably benign
Transcript: ENSMUST00000143833

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality, reduced body weight, hunched posture, respiratory distress, increased sensitivity of neurons to hydrogen peroxide, reduced dendrite length, abnormal brain vasculature and reduced synaptic number and density. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
5730507C01Rik	G	A	12: 18,533,374	R145H	possibly damaging	Het
Acox3	T	A	5: 35,588,752	V93E	probably benign	Het
Ankar	T	C	1: 72,665,219	N848S	probably benign	Het
Blzf1	A	G	1: 164,303,930		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,361,150	D267A	probably damaging	Het
Dtl	G	T	1: 191,548,330	T364K	probably damaging	Het
Fam46a	A	G	9: 85,326,599	V57A	probably damaging	Het
Fat1	T	A	8: 45,024,840	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,477,908	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736	V1397I	probably benign	Het
Gdi2	A	G	13: 3,548,855		probably benign	Het
Gm5155	A	T	7: 17,902,471		noncoding transcript	Het
Grik3	C	T	4: 125,632,415	T147I	probably benign	Het
Htr1a	T	C	13: 105,445,284	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,931,761	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,354,555		probably null	Het
Mfsd4b3	A	G	10: 39,948,072	M64T	probably benign	Het
Nox3	T	A	17: 3,696,252		probably benign	Het
Olfr693	C	T	7: 106,678,193	A98T	probably benign	Het
Pikfyve	T	A	1: 65,251,635	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,395,966	Q325*	probably null	Het
Rap1a	T	A	3: 105,732,035	T103S	probably benign	Het
Rfc4	G	A	16: 23,115,776	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,818,887	S8P	probably benign	Het
Syt17	C	T	7: 118,382,047	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,853,900	M1117L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,521,260		probably null	Het
Twf2	A	G	9: 106,212,828	I127V	probably benign	Het
Unc13c	A	G	9: 73,484,893	V2059A	probably damaging	Het

Other mutations in Cc2d1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01078:Cc2d1a	APN	8	84140265	missense	possibly damaging	0.87
IGL01126:Cc2d1a	APN	8	84143404	missense	probably benign	0.11
IGL01129:Cc2d1a	APN	8	84143404	missense	probably benign	0.11
IGL01133:Cc2d1a	APN	8	84143404	missense	probably benign	0.11
IGL01953:Cc2d1a	APN	8	84143978	missense	probably benign	0.00
IGL02216:Cc2d1a	APN	8	84139313	nonsense	probably null
IGL03131:Cc2d1a	APN	8	84143427	missense	probably damaging	1.00
IGL03268:Cc2d1a	APN	8	84133525	missense	probably damaging	1.00
IGL03401:Cc2d1a	APN	8	84134629	missense	probably benign	0.00
Rye	UTSW	8	84134970	missense	probably damaging	1.00
Taragon	UTSW	8	84138537	missense	probably damaging	0.96
R0313:Cc2d1a	UTSW	8	84136969	missense	probably benign	0.38
R0811:Cc2d1a	UTSW	8	84133836	missense	probably benign	0.23
R0812:Cc2d1a	UTSW	8	84133836	missense	probably benign	0.23
R0893:Cc2d1a	UTSW	8	84140839	splice site	probably benign
R1440:Cc2d1a	UTSW	8	84133975	critical splice donor site	probably null
R1625:Cc2d1a	UTSW	8	84139372	missense	probably damaging	1.00
R2183:Cc2d1a	UTSW	8	84140399	missense	probably damaging	1.00
R5155:Cc2d1a	UTSW	8	84141126	missense	probably benign	0.00
R5959:Cc2d1a	UTSW	8	84133503	nonsense	probably null
R6046:Cc2d1a	UTSW	8	84136942	missense	possibly damaging	0.81
R6386:Cc2d1a	UTSW	8	84138537	missense	probably damaging	0.96
R6956:Cc2d1a	UTSW	8	84135899	missense	probably damaging	1.00
R6992:Cc2d1a	UTSW	8	84134913	missense	probably damaging	1.00
R7156:Cc2d1a	UTSW	8	84135760	missense	possibly damaging	0.69
R7396:Cc2d1a	UTSW	8	84143745	splice site	probably null
R7456:Cc2d1a	UTSW	8	84140239	critical splice donor site	probably null
R7787:Cc2d1a	UTSW	8	84133515	missense	possibly damaging	0.94
R8507:Cc2d1a	UTSW	8	84134976	missense	probably benign	0.37
R8808:Cc2d1a	UTSW	8	84134970	missense	probably damaging	1.00
R9524:Cc2d1a	UTSW	8	84144115	missense	probably benign	0.06
R9563:Cc2d1a	UTSW	8	84137129	missense	probably benign	0.14
RF007:Cc2d1a	UTSW	8	84134669	missense	probably damaging	1.00

Posted On

2015-04-16