Mutagenetix > Incidental Mutation

Incidental Mutation 'R6696:Ccdc134'

528600

Institutional Source

Beutler Lab

Gene Symbol

Ccdc134

Ensembl Gene

ENSMUSG00000068114

Gene Name

coiled-coil domain containing 134

Synonyms

2310042L06Rik

MMRRC Submission

044814-MU

Accession Numbers

Essential gene?

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

Stock #

R6696 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82012123-82026404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82015722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 67 (D67E)

Ref Sequence

ENSEMBL: ENSMUSP00000155805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089174] [ENSMUST00000089178] [ENSMUST00000186125] [ENSMUST00000188048] [ENSMUST00000189540] [ENSMUST00000229119] [ENSMUST00000229384] [ENSMUST00000229411] [ENSMUST00000229597]

AlphaFold

Q8C7V8

Predicted Effect

probably benign
Transcript: ENSMUST00000089174
AA Change: D67E

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000086578
Gene: ENSMUSG00000068114
AA Change: D67E

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: ENSMUST00000089178

SMART Domains

Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
SCOP:d1gw5a_	123	498	1e-3	SMART
low complexity region	956	966	N/A	INTRINSIC
low complexity region	1025	1045	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186125

Predicted Effect

probably benign
Transcript: ENSMUST00000188048

SMART Domains

Protein: ENSMUSP00000139689
Gene: ENSMUSG00000068117

Domain	Start	End	E-Value	Type
low complexity region	523	536	N/A	INTRINSIC
low complexity region	595	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189540

SMART Domains

Protein: ENSMUSP00000140479
Gene: ENSMUSG00000068117

Domain	Start	End	E-Value	Type
low complexity region	523	536	N/A	INTRINSIC
low complexity region	595	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229119

Predicted Effect

probably benign
Transcript: ENSMUST00000229384

Predicted Effect

probably damaging
Transcript: ENSMUST00000229411
AA Change: D67E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229597
AA Change: D67E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230582

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap25	G	T	6: 87,442,633 (GRCm39)	H350Q	probably damaging	Het
Arhgap25	C	A	6: 87,443,545 (GRCm39)	V305F	probably damaging	Het
Atg3	A	T	16: 44,995,644 (GRCm39)	I126F	possibly damaging	Het
Best2	A	T	8: 85,737,873 (GRCm39)	L174*	probably null	Het
Coasy	G	T	11: 100,973,927 (GRCm39)	R31L	possibly damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Dhrs7l	C	T	12: 72,666,255 (GRCm39)	A139T	possibly damaging	Het
Eipr1	C	A	12: 28,909,357 (GRCm39)	T208N	probably benign	Het
Epha2	A	G	4: 141,048,850 (GRCm39)	T606A	probably benign	Het
Fan1	A	T	7: 63,999,826 (GRCm39)	I853N	probably damaging	Het
Fbxw18	A	C	9: 109,517,832 (GRCm39)	S385A	probably benign	Het
Galnt11	T	C	5: 25,460,112 (GRCm39)	V307A	probably benign	Het
Gata3	A	T	2: 9,879,303 (GRCm39)	Y224*	probably null	Het
Gm527	T	C	12: 64,967,866 (GRCm39)	M96T	possibly damaging	Het
Hivep2	T	C	10: 14,009,503 (GRCm39)	F1720S	probably benign	Het
Hltf	T	G	3: 20,119,470 (GRCm39)		probably null	Het
Imp4	T	C	1: 34,483,327 (GRCm39)	V247A	probably benign	Het
Iqca1	G	A	1: 90,057,922 (GRCm39)	T259I	probably benign	Het
Klra6	A	G	6: 129,993,696 (GRCm39)	F192L	probably benign	Het
Lnp1	T	C	16: 56,748,149 (GRCm39)	K48E	possibly damaging	Het
Lrp4	A	G	2: 91,327,690 (GRCm39)	D1513G	probably benign	Het
Lrrc25	G	A	8: 71,071,015 (GRCm39)		probably null	Het
Macf1	T	A	4: 123,403,596 (GRCm39)	Y590F	probably damaging	Het
Mms19	C	A	19: 41,942,452 (GRCm39)	V359L	probably benign	Het
Mns1	G	A	9: 72,360,044 (GRCm39)	R398Q	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nme3	G	T	17: 25,116,268 (GRCm39)	C158F	possibly damaging	Het
Pam	T	A	1: 97,813,452 (GRCm39)	H326L	possibly damaging	Het
Plcxd1	A	G	5: 110,249,751 (GRCm39)	N151S	possibly damaging	Het
Prep	A	T	10: 45,029,174 (GRCm39)	N525Y	probably damaging	Het
Rab11fip5	T	C	6: 85,318,928 (GRCm39)	I654V	possibly damaging	Het
Sbf2	T	A	7: 110,159,505 (GRCm39)	Q35L	probably benign	Het
Shcbp1	A	G	8: 4,789,262 (GRCm39)	F519S	probably damaging	Het
Slc18a3	T	C	14: 32,186,270 (GRCm39)	I38V	possibly damaging	Het
Slc5a2	A	T	7: 127,869,215 (GRCm39)	I332F	probably damaging	Het
Slc7a7	C	T	14: 54,615,218 (GRCm39)		probably null	Het
Srbd1	C	T	17: 86,446,619 (GRCm39)	V47I	possibly damaging	Het
Synj1	C	G	16: 90,757,340 (GRCm39)	V877L	probably damaging	Het
Tgfbr3	C	T	5: 107,284,796 (GRCm39)	V618I	probably benign	Het
Tmem191	C	T	16: 17,100,886 (GRCm39)		probably null	Het
Tmem67	C	A	4: 12,061,754 (GRCm39)		probably null	Het
Tmem94	C	T	11: 115,682,814 (GRCm39)	A617V	probably damaging	Het
Vmn1r71	T	A	7: 10,482,401 (GRCm39)	I96F	probably damaging	Het
Vmn2r7	A	T	3: 64,614,495 (GRCm39)	F440I	probably benign	Het
Wdr7	A	G	18: 63,872,401 (GRCm39)	Q445R	probably benign	Het
Wnk1	A	G	6: 119,925,243 (GRCm39)	L1407P	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	82,018,895 (GRCm39)	missense	probably damaging	1.00
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
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'- CAATGCTTTGGAGGCATAGGTTAG -3'
(R):5'- ACCCCATCTTGGCTAAGTGG -3'

Sequencing Primer
(F):5'- AGGAATGTGTGGGCCCTC -3'
(R):5'- GGAGATCTTCACAACTTAGTTCCGG -3'

Posted On

2018-07-24