Mutagenetix > Incidental Mutation

Incidental Mutation 'R1107:Ccdc134'

98529

Institutional Source

Beutler Lab

Gene Symbol

Ccdc134

Ensembl Gene

ENSMUSG00000068114

Gene Name

coiled-coil domain containing 134

Synonyms

2310042L06Rik

MMRRC Submission

039180-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R1107 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82012123-82026404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82018895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 142 (W142R)

Ref Sequence

ENSEMBL: ENSMUSP00000086578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089174] [ENSMUST00000229384] [ENSMUST00000229411] [ENSMUST00000229597]

AlphaFold

Q8C7V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000089174
AA Change: W142R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086578
Gene: ENSMUSG00000068114
AA Change: W142R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ERK-JNK_inhib	23	223	1.7e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229384

Predicted Effect

probably benign
Transcript: ENSMUST00000229411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229456

Predicted Effect

probably benign
Transcript: ENSMUST00000229597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230582

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis with impaired liver and vascular development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	T	C	6: 39,562,719 (GRCm39)	V530A	possibly damaging	Het
Apba2	G	A	7: 64,395,467 (GRCm39)	V636I	possibly damaging	Het
Cacna1b	G	A	2: 24,587,615 (GRCm39)	A625V	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dlg1	A	G	16: 31,665,734 (GRCm39)	E697G	probably benign	Het
Fezf2	A	T	14: 12,342,624 (GRCm38)	C414S	probably damaging	Het
Kif26b	A	C	1: 178,745,238 (GRCm39)	N1778T	probably benign	Het
Lrp1	T	C	10: 127,393,304 (GRCm39)	Y2683C	probably damaging	Het
Mroh7	T	C	4: 106,564,791 (GRCm39)		probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Pclo	T	A	5: 14,727,883 (GRCm39)		probably benign	Het
Rnf220	C	A	4: 117,142,587 (GRCm39)	G114V	probably damaging	Het
Tasor	C	T	14: 27,201,680 (GRCm39)	Q49*	probably null	Het
Zik1	G	A	7: 10,224,312 (GRCm39)	R262C	probably damaging	Het

Other mutations in Ccdc134

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02746:Ccdc134	APN	15	82,015,938 (GRCm39)	intron	probably benign
IGL02941:Ccdc134	APN	15	82,025,151 (GRCm39)	missense	probably damaging	0.98
IGL03071:Ccdc134	APN	15	82,018,826 (GRCm39)	missense	possibly damaging	0.71
IGL03278:Ccdc134	APN	15	82,015,682 (GRCm39)	missense	possibly damaging	0.56
IGL03308:Ccdc134	APN	15	82,015,721 (GRCm39)	missense	probably damaging	1.00
IGL03014:Ccdc134	UTSW	15	82,014,306 (GRCm39)	missense	probably damaging	0.99
R0077:Ccdc134	UTSW	15	82,015,938 (GRCm39)	intron	probably benign
R0243:Ccdc134	UTSW	15	82,025,147 (GRCm39)	missense	probably damaging	0.98
R1107:Ccdc134	UTSW	15	82,018,892 (GRCm39)	missense	possibly damaging	0.92
R1588:Ccdc134	UTSW	15	82,019,337 (GRCm39)	missense	probably benign	0.03
R3874:Ccdc134	UTSW	15	82,015,643 (GRCm39)	missense	possibly damaging	0.96
R6696:Ccdc134	UTSW	15	82,015,722 (GRCm39)	missense	probably damaging	1.00
R7448:Ccdc134	UTSW	15	82,025,149 (GRCm39)	missense	possibly damaging	0.64
R7814:Ccdc134	UTSW	15	82,015,724 (GRCm39)	missense	probably damaging	0.96
R8088:Ccdc134	UTSW	15	82,015,990 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAAAGTAGGAACAGCAGCCACCTC -3'
(R):5'- GCCTCTATGACCCAAAGTGCTCTG -3'

Sequencing Primer
(F):5'- TTAATGGGATATAAGGCCCTAGTGC -3'
(R):5'- GTGCTCTGATACTTATAGAACACAC -3'

Posted On

2014-01-05