Mutagenetix > Incidental Mutation

Incidental Mutation 'R7814:Ccdc134'

601400

Institutional Source

Beutler Lab

Gene Symbol

Ccdc134

Ensembl Gene

ENSMUSG00000068114

Gene Name

coiled-coil domain containing 134

Synonyms

2310042L06Rik

MMRRC Submission

045869-MU

Accession Numbers

Essential gene?

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

Stock #

R7814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82012123-82026404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 82015724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 68 (V68G)

Ref Sequence

ENSEMBL: ENSMUSP00000086578 (fasta)

Gene Model

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

AlphaFold

Q8C7V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000089174
AA Change: V68G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000086578
Gene: ENSMUSG00000068114
AA Change: V68G

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: V68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229597
AA Change: V68G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (90/90)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	C	T	4: 124,744,395 (GRCm39)	G20R	not run	Het
Adamts13	A	T	2: 26,886,561 (GRCm39)	M927L	probably benign	Het
Akap6	T	A	12: 53,187,744 (GRCm39)	N1719K	probably benign	Het
Ank3	G	A	10: 69,822,734 (GRCm39)	V468M		Het
Aox1	A	G	1: 58,124,626 (GRCm39)	T956A	probably benign	Het
Ap4m1	T	C	5: 138,173,079 (GRCm39)	V140A	probably benign	Het
Apc	A	G	18: 34,405,592 (GRCm39)	T173A	probably damaging	Het
Bclaf1	A	G	10: 20,210,365 (GRCm39)	T839A	possibly damaging	Het
Btn2a2	T	A	13: 23,666,976 (GRCm39)	I210F	possibly damaging	Het
Cadps	A	G	14: 12,376,706 (GRCm38)	W1269R	probably damaging	Het
Capn2	G	C	1: 182,319,711 (GRCm39)	P159R	probably damaging	Het
Cblif	C	A	19: 11,727,551 (GRCm39)	P125Q	probably benign	Het
Cdh26	A	G	2: 178,111,828 (GRCm39)	T463A	probably damaging	Het
Cfap206	C	T	4: 34,716,347 (GRCm39)	V373I	probably benign	Het
Clpx	T	C	9: 65,231,583 (GRCm39)		probably null	Het
Ctnnd2	A	T	15: 31,020,874 (GRCm39)	Y1145F	probably benign	Het
Ctr9	T	A	7: 110,633,134 (GRCm39)	D127E	probably benign	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cyp7b1	G	A	3: 18,151,466 (GRCm39)	S249L	probably benign	Het
D630023F18Rik	T	A	1: 65,155,850 (GRCm39)	D125V	possibly damaging	Het
Dbh	A	T	2: 27,064,860 (GRCm39)	Y357F	probably damaging	Het
Dbp	T	A	7: 45,356,414 (GRCm39)	L175Q	probably benign	Het
Dmwd	A	T	7: 18,814,768 (GRCm39)	T473S	probably benign	Het
Dnah9	T	A	11: 65,896,486 (GRCm39)	Q2446L	probably damaging	Het
Dnmbp	T	C	19: 43,842,615 (GRCm39)	K498R	probably benign	Het
Dop1b	T	A	16: 93,596,859 (GRCm39)	I1924N	probably damaging	Het
Dsg1a	T	A	18: 20,471,572 (GRCm39)		probably null	Het
Dzank1	T	C	2: 144,364,484 (GRCm39)	T38A	probably damaging	Het
Egfem1	A	G	3: 29,740,940 (GRCm39)	H538R	probably damaging	Het
Entpd1	T	C	19: 40,715,891 (GRCm39)	C353R	probably damaging	Het
Ephx2	C	A	14: 66,347,678 (GRCm39)	C78F	probably benign	Het
Faf2	A	T	13: 54,808,774 (GRCm39)	H388L	probably benign	Het
Fam186a	G	A	15: 99,842,545 (GRCm39)	T1233I	possibly damaging	Het
Gfra2	C	A	14: 71,133,410 (GRCm39)	A80E	probably damaging	Het
Gm17175	T	A	14: 51,811,492 (GRCm39)		probably benign	Het
Gm8180	T	C	14: 44,021,103 (GRCm39)	D35G	possibly damaging	Het
Gpr68	C	T	12: 100,845,302 (GRCm39)	V81M	probably damaging	Het
Hsd3b6	A	G	3: 98,718,259 (GRCm39)	L35P	probably damaging	Het
Hspd1	A	C	1: 55,117,803 (GRCm39)	V485G	possibly damaging	Het
Il16	A	G	7: 83,319,348 (GRCm39)	V381A	possibly damaging	Het
Il17rd	G	A	14: 26,822,074 (GRCm39)	C600Y	probably benign	Het
Ins2	C	A	7: 142,233,323 (GRCm39)		probably benign	Het
Iqca1l	G	T	5: 24,750,420 (GRCm39)	Q626K	possibly damaging	Het
Itsn2	T	C	12: 4,708,561 (GRCm39)	I872T	probably benign	Het
Jakmip3	A	T	7: 138,620,858 (GRCm39)	D219V	probably damaging	Het
Jph4	T	C	14: 55,347,192 (GRCm39)	T452A	probably damaging	Het
Kazn	T	C	4: 141,937,481 (GRCm39)	E12G	unknown	Het
Kif20b	A	C	19: 34,928,355 (GRCm39)	S1206R	possibly damaging	Het
Lca5l	A	G	16: 95,963,757 (GRCm39)		probably null	Het
Lgals2	A	T	15: 78,735,533 (GRCm39)	S60R	probably benign	Het
Lrrc37	T	A	11: 103,504,999 (GRCm39)	H2323L	possibly damaging	Het
Map10	A	G	8: 126,398,350 (GRCm39)	E581G	probably benign	Het
Map2k7	G	T	8: 4,293,744 (GRCm39)	R128L	probably benign	Het
Mapk8	G	C	14: 33,132,834 (GRCm39)	S34*	probably null	Het
Mcat	A	G	15: 83,432,110 (GRCm39)	Y253H	probably damaging	Het
Mmp2	T	C	8: 93,576,798 (GRCm39)	L607P	probably benign	Het
Ncor1	A	T	11: 62,224,752 (GRCm39)	V836E	probably damaging	Het
Neb	A	G	2: 52,027,392 (GRCm39)	S7113P	probably damaging	Het
Nphp4	T	C	4: 152,608,729 (GRCm39)	F446L	possibly damaging	Het
Nphp4	G	T	4: 152,628,860 (GRCm39)	D749Y	probably damaging	Het
Or14j4	T	A	17: 37,921,547 (GRCm39)	T32S	probably benign	Het
Or1j10	T	C	2: 36,266,821 (GRCm39)	I11T	possibly damaging	Het
Or4c99	A	G	2: 88,329,416 (GRCm39)		probably benign	Het
Or5k8	T	C	16: 58,644,365 (GRCm39)	K236E	probably damaging	Het
Osbpl11	A	T	16: 33,030,431 (GRCm39)	R220*	probably null	Het
Plrg1	G	A	3: 82,964,144 (GRCm39)	V26M	probably damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Ppfia3	A	C	7: 45,001,686 (GRCm39)	S560A	probably benign	Het
Ppp3cc	T	A	14: 70,462,464 (GRCm39)	N391I	possibly damaging	Het
Prdx6b	T	C	2: 80,123,304 (GRCm39)	S38P	possibly damaging	Het
Psg23	A	T	7: 18,340,839 (GRCm39)	*472R	probably null	Het
Rapgef4	A	T	2: 72,053,461 (GRCm39)	M587L	probably benign	Het
Rfx3	T	A	19: 27,803,470 (GRCm39)	M247L	probably benign	Het
Rgs7	T	A	1: 174,903,635 (GRCm39)	H463L	probably benign	Het
Riiad1	G	T	3: 94,373,162 (GRCm39)	S106R	probably benign	Het
Rims4	A	C	2: 163,760,548 (GRCm39)	I19S	probably benign	Het
Ros1	A	T	10: 51,972,233 (GRCm39)	M1648K	probably benign	Het
Rrn3	T	C	16: 13,629,453 (GRCm39)	F590L	probably benign	Het
Samd9l	T	A	6: 3,374,793 (GRCm39)	T823S	possibly damaging	Het
Sfxn1	C	A	13: 54,245,250 (GRCm39)	P115Q	possibly damaging	Het
Slc10a7	T	C	8: 79,425,202 (GRCm39)		probably null	Het
Slc25a16	A	T	10: 62,773,199 (GRCm39)	M142L	probably benign	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,126,597 (GRCm39)		probably benign	Het
Stat5a	T	G	11: 100,765,853 (GRCm39)	L313R	probably damaging	Het
Strap	A	G	6: 137,718,976 (GRCm39)	E176G	possibly damaging	Het
Tlr4	T	G	4: 66,759,316 (GRCm39)	L703R	probably damaging	Het
Trim36	A	T	18: 46,300,691 (GRCm39)	V660D	possibly damaging	Het
Tspoap1	T	A	11: 87,666,350 (GRCm39)	D980E	probably damaging	Het
Usp28	T	C	9: 48,915,218 (GRCm39)	V157A	probably benign	Het
Vmn2r17	A	T	5: 109,575,739 (GRCm39)	R203S	probably benign	Het
Vmn2r66	T	C	7: 84,656,472 (GRCm39)	I181M	probably benign	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp442	C	T	2: 150,251,402 (GRCm39)	D167N	possibly 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
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
R8088:Ccdc134	UTSW	15	82,015,990 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TTACAGGACCTACGTATGCCC -3'
(R):5'- TCACAACTTAGTTCCGGCC -3'

Sequencing Primer
(F):5'- TACGTATGCCCCAGCCATG -3'
(R):5'- GGCCCCCGTTACCTGAATC -3'

Posted On

2019-11-26