Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01345:Ccdc107'

75028

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

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL01345

Quality Score

Status

Chromosome

Chromosomal Location

43493365-43495921 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 43493453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 8 (L8*)

Ref Sequence

ENSEMBL: ENSMUSP00000103555 (fasta)

Gene Model

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

AlphaFold

Q9DCC3

Predicted Effect

probably null
Transcript: ENSMUST00000030181
AA Change: L8*

SMART Domains

Protein: ENSMUSP00000030181
Gene: ENSMUSG00000028461
AA Change: L8*

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 null
Transcript: ENSMUST00000107922
AA Change: L8*

SMART Domains

Protein: ENSMUSP00000103555
Gene: ENSMUSG00000028461
AA Change: L8*

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: ENSMUST00000137113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140005

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

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	A	G	2: 156,699,020 (GRCm39)		probably benign	Het
Atr	G	A	9: 95,823,002 (GRCm39)	C2323Y	probably damaging	Het
Erc1	T	A	6: 119,738,224 (GRCm39)	K240*	probably null	Het
Gcat	T	C	15: 78,918,265 (GRCm39)		probably benign	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gm8267	A	G	14: 44,962,412 (GRCm39)	S3P	probably damaging	Het
Gpr26	T	C	7: 131,569,161 (GRCm39)	F169L	possibly damaging	Het
Itgal	T	A	7: 126,900,128 (GRCm39)	F129I	possibly damaging	Het
Kcnk1	T	A	8: 126,752,146 (GRCm39)	C251S	possibly damaging	Het
Nfkb1	T	C	3: 135,300,742 (GRCm39)	D608G	probably damaging	Het
Nlrp2	T	C	7: 5,320,491 (GRCm39)	E882G	probably benign	Het
Odad2	T	C	18: 7,266,947 (GRCm39)	K385E	probably benign	Het
Pik3r5	G	A	11: 68,387,020 (GRCm39)	D854N	possibly damaging	Het
Rnf220	G	A	4: 117,130,467 (GRCm39)	R253*	probably null	Het
Slc22a15	A	C	3: 101,787,492 (GRCm39)	S259R	probably benign	Het
Tln1	G	A	4: 43,536,281 (GRCm39)	L2004F	probably damaging	Het
Tlnrd1	A	G	7: 83,532,054 (GRCm39)	S126P	probably damaging	Het
Ulk4	T	C	9: 121,037,228 (GRCm39)	T587A	possibly damaging	Het
Vasn	A	G	16: 4,466,232 (GRCm39)	I60V	probably benign	Het
Vps33a	G	T	5: 123,711,006 (GRCm39)	N13K	probably benign	Het
Zmiz2	A	G	11: 6,355,015 (GRCm39)	D862G	possibly damaging	Het
Zswim3	T	A	2: 164,662,057 (GRCm39)	L179H	probably damaging	Het

Other mutations in Ccdc107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0028:Ccdc107	UTSW	4	43,495,549 (GRCm39)	missense	probably benign
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

2013-10-07