Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01469:Ccdc107'

88225

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc107

Ensembl Gene

ENSMUSG00000028461

Gene Name

coiled-coil domain containing 107

Synonyms

1110032O22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL01469

Quality Score

Status

Chromosome

Chromosomal Location

43492900-43495921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43495751 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 218 (N218S)

Ref Sequence

ENSEMBL: ENSMUSP00000103555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030181] [ENSMUST00000054538] [ENSMUST00000107922]

Predicted Effect

probably benign
Transcript: ENSMUST00000030181
AA Change: N193S

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030181
Gene: ENSMUSG00000028461
AA Change: N193S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
coiled coil region	97	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000054538

SMART Domains

Protein: ENSMUSP00000055293
Gene: ENSMUSG00000051517

Domain	Start	End	E-Value	Type
RhoGEF	26	196	4.92e-31	SMART
PH	228	333	5.71e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107922
AA Change: N218S

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103555
Gene: ENSMUSG00000028461
AA Change: N218S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
coiled coil region	97	132	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129378

Predicted Effect

probably benign
Transcript: ENSMUST00000136005

SMART Domains

Protein: ENSMUSP00000118144
Gene: ENSMUSG00000051517

Domain	Start	End	E-Value	Type
Pfam:RhoGEF	53	153	2.5e-18	PFAM
PH	154	256	1.97e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147124

Predicted Effect

probably benign
Transcript: ENSMUST00000152134

SMART Domains

Protein: ENSMUSP00000119911
Gene: ENSMUSG00000051517

Domain	Start	End	E-Value	Type
Blast:PH	2	82	7e-38	BLAST
SCOP:d1kz7a2	2	88	4e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226420

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 membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	A	G	4: 144,528,622	Q204R	possibly damaging	Het
Actn2	C	T	13: 12,310,910	E60K	possibly damaging	Het
Alpk1	T	C	3: 127,677,752		probably null	Het
Cdh23	A	T	10: 60,597,725	M60K	probably benign	Het
Cenpe	A	G	3: 135,228,806	Q378R	probably damaging	Het
Dnah8	T	A	17: 30,683,714		probably benign	Het
Eif2b4	T	C	5: 31,187,767	D190G	probably benign	Het
Fmo5	A	G	3: 97,651,568	N448S	probably benign	Het
Gal3st2c	A	G	1: 94,009,317	N328S	probably benign	Het
Gbf1	A	T	19: 46,279,364	E1271V	probably damaging	Het
Ifitm6	A	T	7: 141,016,812	V16D	probably damaging	Het
Ighv2-4	A	G	12: 113,653,346		probably null	Het
Kng2	T	A	16: 22,999,827	K305I	probably damaging	Het
Lrp1	C	T	10: 127,584,414	R900Q	probably damaging	Het
Maml1	A	G	11: 50,266,526	M274T	probably damaging	Het
Med23	A	G	10: 24,882,597	E278G	probably damaging	Het
Myo1h	A	G	5: 114,361,269	T164A	probably damaging	Het
Ncoa2	A	T	1: 13,186,869	S135R	probably benign	Het
Nrbf2	A	G	10: 67,270,140	L41P	probably damaging	Het
Olfr108	T	A	17: 37,445,535	S5T	probably benign	Het
Olfr341	T	C	2: 36,479,824	Y102C	probably benign	Het
Olfr514	A	G	7: 108,825,327	V224A	probably benign	Het
Olfr678	T	A	7: 105,070,388	M307K	probably benign	Het
Olfr782	A	G	10: 129,350,580	M6V	probably benign	Het
Otoa	T	C	7: 121,155,273		probably null	Het
Pih1d3	A	T	1: 31,223,429	D164V	probably damaging	Het
Plxnb1	T	C	9: 109,105,415		probably benign	Het
Ppp1r42	A	T	1: 10,003,233		probably null	Het
Rad54l2	T	A	9: 106,722,758	K100M	probably damaging	Het
Rnf112	T	A	11: 61,451,341	T308S	possibly damaging	Het
Scaper	T	C	9: 55,859,767	D466G	probably damaging	Het
Sgsm2	T	A	11: 74,853,871	I796L	possibly damaging	Het
Shank3	T	C	15: 89,521,274	L476P	probably damaging	Het
Shkbp1	T	C	7: 27,355,941	T6A	probably benign	Het
Slc14a2	A	T	18: 78,155,566	I783N	probably damaging	Het
Stat1	A	G	1: 52,147,370	D447G	possibly damaging	Het
Tekt3	T	G	11: 63,073,468	I208S	probably damaging	Het
Tenm3	A	T	8: 48,236,423	V2043E	probably damaging	Het
Tgm3	T	C	2: 130,024,494	Y111H	probably damaging	Het
Tph2	T	A	10: 115,079,759	R459*	probably null	Het
Vmn2r109	T	C	17: 20,541,409	Y562C	probably damaging	Het

Other mutations in Ccdc107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01345:Ccdc107	APN	4	43493453	nonsense	probably null
IGL02160:Ccdc107	APN	4	43495736	missense	probably damaging	0.99
IGL02884:Ccdc107	APN	4	43495228	nonsense	probably null
R0028:Ccdc107	UTSW	4	43495549	missense	probably benign
R2027:Ccdc107	UTSW	4	43495874	missense	probably benign	0.35
R5435:Ccdc107	UTSW	4	43493519	missense	probably damaging	0.99
R5546:Ccdc107	UTSW	4	43495685	missense	probably damaging	0.97
R7419:Ccdc107	UTSW	4	43493512	missense	probably benign	0.27
R8010:Ccdc107	UTSW	4	43495768	nonsense	probably null

Posted On

2013-11-18