Mutagenetix > Incidental Mutation

Incidental Mutation 'R0028:Ccdc107'

15677

Institutional Source

Beutler Lab

Gene Symbol

Ccdc107

Ensembl Gene

ENSMUSG00000028461

Gene Name

coiled-coil domain containing 107

Synonyms

1110032O22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0028 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

43493365-43495921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43495549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 151 (T151A)

Ref Sequence

ENSEMBL: ENSMUSP00000103555 (fasta)

Gene Model

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

AlphaFold

Q9DCC3

Predicted Effect

probably benign
Transcript: ENSMUST00000030181
AA Change: T151A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030181
Gene: ENSMUSG00000028461
AA Change: T151A

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: T151A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103555
Gene: ENSMUSG00000028461
AA Change: T151A

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

noncoding transcript
Transcript: ENSMUST00000147124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226420

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 80.7%
3x: 72.7%
10x: 50.3%
20x: 30.1%

Validation Efficiency

96% (74/77)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,596,698 (GRCm39)	F384L	probably benign	Het
AC159748.1	T	C	10: 5,542,006 (GRCm38)		silent	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Bms1	T	C	6: 118,393,480 (GRCm39)	I131V	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col4a4	A	G	1: 82,465,231 (GRCm39)		probably null	Het
Creb1	A	G	1: 64,609,307 (GRCm39)	D126G	probably damaging	Het
Ddb1	T	A	19: 10,596,610 (GRCm39)	V443E	probably damaging	Het
Dnmt3a	T	A	12: 3,950,337 (GRCm39)	S634T	probably damaging	Het
Fras1	A	C	5: 96,825,175 (GRCm39)	N1455T	probably benign	Het
Fyb1	A	G	15: 6,674,395 (GRCm39)		probably benign	Het
Gpr141	C	T	13: 19,936,599 (GRCm39)	V59M	probably damaging	Het
Ikbke	T	C	1: 131,199,921 (GRCm39)	I222V	possibly damaging	Het
Macf1	A	T	4: 123,275,895 (GRCm39)	H6222Q	probably damaging	Het
Mapk8ip3	C	T	17: 25,123,871 (GRCm39)		probably benign	Het
Phactr1	A	T	13: 43,210,655 (GRCm39)	D74V	probably damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Rnasel	A	T	1: 153,630,465 (GRCm39)	D327V	probably benign	Het
Slc25a13	T	C	6: 6,181,047 (GRCm39)	N46D	probably benign	Het
Slc28a2	T	A	2: 122,282,083 (GRCm39)	F261L	probably damaging	Het
Slc6a15	A	T	10: 103,252,541 (GRCm39)	Y568F	probably benign	Het
Slc7a1	A	G	5: 148,272,321 (GRCm39)	V452A	probably benign	Het
Tectb	T	C	19: 55,183,109 (GRCm39)	I330T	probably benign	Het
Tmem92	C	T	11: 94,669,778 (GRCm39)	V118I	possibly damaging	Het
Tmf1	T	C	6: 97,135,059 (GRCm39)	E985G	probably damaging	Het
Traf5	T	A	1: 191,758,421 (GRCm39)		probably benign	Het
Trip11	T	C	12: 101,851,016 (GRCm39)	E731G	probably damaging	Het
Unc5a	A	G	13: 55,151,726 (GRCm39)	S50G	possibly damaging	Het
Wrnip1	T	C	13: 33,004,280 (GRCm39)	L517P	probably damaging	Het
Zfp202	T	A	9: 40,123,048 (GRCm39)	H603Q	probably damaging	Het

Other mutations in Ccdc107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01345:Ccdc107	APN	4	43,493,453 (GRCm39)	nonsense	probably null
IGL01469:Ccdc107	APN	4	43,495,751 (GRCm39)	missense	probably benign	0.37
IGL02160:Ccdc107	APN	4	43,495,736 (GRCm39)	missense	probably damaging	0.99
IGL02884:Ccdc107	APN	4	43,495,228 (GRCm39)	nonsense	probably null
R2027:Ccdc107	UTSW	4	43,495,874 (GRCm39)	missense	probably benign	0.35
R5435:Ccdc107	UTSW	4	43,493,519 (GRCm39)	missense	probably damaging	0.99
R5546:Ccdc107	UTSW	4	43,495,685 (GRCm39)	missense	probably damaging	0.97
R7419:Ccdc107	UTSW	4	43,493,512 (GRCm39)	missense	probably benign	0.27
R8010:Ccdc107	UTSW	4	43,495,768 (GRCm39)	nonsense	probably null
R8795:Ccdc107	UTSW	4	43,495,514 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-21