Mutagenetix > Incidental Mutation

Incidental Mutation 'R0769:Ccdc106'

76940

Institutional Source

Beutler Lab

Gene Symbol

Ccdc106

Ensembl Gene

ENSMUSG00000035228

Gene Name

coiled-coil domain containing 106

Synonyms

MMRRC Submission

038949-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0769 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5056847-5063784 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5062539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 11 (D11N)

Ref Sequence

ENSEMBL: ENSMUSP00000146978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005041] [ENSMUST00000045543] [ENSMUST00000108571] [ENSMUST00000207097] [ENSMUST00000208728] [ENSMUST00000207974] [ENSMUST00000207215] [ENSMUST00000208042] [ENSMUST00000209099] [ENSMUST00000208161]

AlphaFold

Q3ULM0

Predicted Effect

probably benign
Transcript: ENSMUST00000005041

SMART Domains

Protein: ENSMUSP00000005041
Gene: ENSMUSG00000030435

Domain	Start	End	E-Value	Type
low complexity region	23	62	N/A	INTRINSIC
PDB:1JMT\|B	85	112	9e-13	PDB
RRM	150	227	1.26e-11	SMART
low complexity region	242	257	N/A	INTRINSIC
RRM	260	333	8.64e-19	SMART
RRM	377	462	3.04e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045543
AA Change: D120N

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041033
Gene: ENSMUSG00000035228
AA Change: D120N

Domain	Start	End	E-Value	Type
coiled coil region	62	101	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108571
AA Change: D182N

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104211
Gene: ENSMUSG00000035228
AA Change: D182N

Domain	Start	End	E-Value	Type
Pfam:CCDC106	117	337	1.4e-100	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145534

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149912
AA Change: G416E

Predicted Effect

probably benign
Transcript: ENSMUST00000207097

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208728
AA Change: D11N

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207974
AA Change: D120N

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000207215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207548

Predicted Effect

probably benign
Transcript: ENSMUST00000208042

Predicted Effect

probably benign
Transcript: ENSMUST00000209099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208419

Predicted Effect

probably benign
Transcript: ENSMUST00000208161

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.1%
20x: 89.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 1 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Sis	T	C	3: 72,859,864 (GRCm39)	Q297R	probably damaging	Het

Other mutations in Ccdc106

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02028:Ccdc106	APN	7	5,062,645 (GRCm39)	missense	probably damaging	1.00
R0089:Ccdc106	UTSW	7	5,059,220 (GRCm39)	splice site	probably null
R0103:Ccdc106	UTSW	7	5,060,544 (GRCm39)	missense	probably benign
R0103:Ccdc106	UTSW	7	5,060,544 (GRCm39)	missense	probably benign
R0440:Ccdc106	UTSW	7	5,063,244 (GRCm39)	missense	probably damaging	1.00
R0705:Ccdc106	UTSW	7	5,062,539 (GRCm39)	missense	possibly damaging	0.92
R0753:Ccdc106	UTSW	7	5,062,539 (GRCm39)	missense	possibly damaging	0.92
R0767:Ccdc106	UTSW	7	5,062,539 (GRCm39)	missense	possibly damaging	0.92
R0775:Ccdc106	UTSW	7	5,062,539 (GRCm39)	missense	possibly damaging	0.92
R0788:Ccdc106	UTSW	7	5,060,533 (GRCm39)	unclassified	probably benign
R0817:Ccdc106	UTSW	7	5,062,539 (GRCm39)	missense	possibly damaging	0.92
R0818:Ccdc106	UTSW	7	5,062,539 (GRCm39)	missense	possibly damaging	0.92
R0819:Ccdc106	UTSW	7	5,062,539 (GRCm39)	missense	possibly damaging	0.92
R1161:Ccdc106	UTSW	7	5,062,539 (GRCm39)	missense	possibly damaging	0.92
R1451:Ccdc106	UTSW	7	5,062,527 (GRCm39)	missense	probably damaging	1.00
R1962:Ccdc106	UTSW	7	5,062,539 (GRCm39)	missense	possibly damaging	0.92
R4771:Ccdc106	UTSW	7	5,060,521 (GRCm39)	splice site	probably null
R5306:Ccdc106	UTSW	7	5,061,096 (GRCm39)	missense	probably damaging	1.00
R5327:Ccdc106	UTSW	7	5,063,159 (GRCm39)	unclassified	probably benign
R7256:Ccdc106	UTSW	7	5,063,325 (GRCm39)	missense	probably damaging	0.99
R7467:Ccdc106	UTSW	7	5,063,325 (GRCm39)	missense	probably damaging	0.99
R8852:Ccdc106	UTSW	7	5,062,570 (GRCm39)	missense	probably benign	0.03
R8860:Ccdc106	UTSW	7	5,062,570 (GRCm39)	missense	probably benign	0.03
R8959:Ccdc106	UTSW	7	5,060,500 (GRCm39)	missense	probably benign
R9393:Ccdc106	UTSW	7	5,059,200 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- ACCTGTTTCAGTCAAGTTCAGAGCC -3'
(R):5'- AGCCTTGGTCTTCCCAAATCGC -3'

Sequencing Primer
(F):5'- GCATTCAGTGTAGCTAATGTCTC -3'
(R):5'- AAATCGCTTCCGGCTAGTACTTC -3'

Posted On

2013-10-16