Mutagenetix > Incidental Mutation

Incidental Mutation 'R0482:Ccdc174'

42028

Institutional Source

Beutler Lab

Gene Symbol

Ccdc174

Ensembl Gene

ENSMUSG00000034083

Gene Name

coiled-coil domain containing 174

Synonyms

MMRRC Submission

038682-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0482 (G1)

Quality Score

125

Status

Validated

Chromosome

Chromosomal Location

91878053-91899843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91895266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 292 (M292K)

Ref Sequence

ENSEMBL: ENSMUSP00000049280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037783] [ENSMUST00000136090]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037783
AA Change: M292K

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000049280
Gene: ENSMUSG00000034083
AA Change: M292K

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
coiled coil region	64	98	N/A	INTRINSIC
low complexity region	137	152	N/A	INTRINSIC
Pfam:DUF4078	215	303	4.4e-32	PFAM
low complexity region	323	340	N/A	INTRINSIC
low complexity region	423	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147188

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151378

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

95% (94/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,988,423		probably null	Het
Abca13	G	A	11: 9,328,207	G3129D	possibly damaging	Het
Acnat2	T	C	4: 49,383,534	I6M	probably benign	Het
Adcy4	T	A	14: 55,774,572		probably null	Het
Agrn	A	G	4: 156,173,555	S1117P	probably damaging	Het
Anks1b	A	G	10: 90,359,195	N545S	probably benign	Het
Antxr1	C	T	6: 87,269,238		probably null	Het
Arhgef17	T	C	7: 100,880,621	K476E	probably damaging	Het
Bptf	T	C	11: 107,081,262	S927G	probably benign	Het
Cacna1s	C	T	1: 136,113,394	T1286I	probably benign	Het
Cdk5rap2	G	A	4: 70,410,269		probably benign	Het
Celsr3	T	A	9: 108,829,073	Y918*	probably null	Het
Cep250	T	C	2: 155,964,974		probably benign	Het
Ces2h	A	G	8: 105,020,271	D513G	possibly damaging	Het
Clec2l	A	G	6: 38,663,392	T53A	probably benign	Het
Cntnap2	C	T	6: 45,715,816	S77L	probably benign	Het
Cped1	A	T	6: 22,016,958	H102L	probably benign	Het
Crim1	T	A	17: 78,372,579	D916E	probably benign	Het
Csmd1	T	A	8: 16,233,101	I614F	probably damaging	Het
Csnk1g1	G	A	9: 66,010,469	E37K	probably damaging	Het
Ctnnbl1	T	A	2: 157,871,190		probably null	Het
Cuzd1	A	T	7: 131,309,872		probably benign	Het
Cyp4f16	T	A	17: 32,550,551	V433D	probably damaging	Het
Ddi1	A	G	9: 6,266,144	L75P	probably damaging	Het
Ddias	G	A	7: 92,859,528	A393V	probably benign	Het
Dgka	A	T	10: 128,734,121	Y123*	probably null	Het
Dlgap1	T	C	17: 70,516,190	C57R	probably benign	Het
Dysf	T	A	6: 84,152,405	V1458D	probably benign	Het
Eif2ak4	T	A	2: 118,462,347	Y1230N	probably damaging	Het
Fam160a2	G	A	7: 105,384,212	P599L	possibly damaging	Het
Fam46a	T	C	9: 85,325,055	Y230C	probably damaging	Het
Fbxl7	A	T	15: 26,543,546	S338R	probably benign	Het
Fgf23	A	T	6: 127,073,159	T44S	probably damaging	Het
Folh1	A	T	7: 86,746,101		probably benign	Het
Gpsm2	A	T	3: 108,702,394		probably benign	Het
Hdac2	T	A	10: 36,989,134		probably benign	Het
Hist1h2bl	A	G	13: 21,716,125		probably benign	Het
Il31ra	G	T	13: 112,527,481	T446N	possibly damaging	Het
Irf5	T	A	6: 29,535,370	L199H	probably benign	Het
Kif18a	T	A	2: 109,287,843	M1K	probably null	Het
Kif4-ps	A	C	12: 101,148,662	I1017L	probably benign	Het
Klhl2	C	T	8: 64,758,130	V295M	probably benign	Het
Krt75	A	T	15: 101,570,311	M296K	probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lgr4	T	C	2: 110,008,092	S439P	probably damaging	Het
Lhfpl2	C	A	13: 94,174,610	N129K	probably damaging	Het
Lnx2	A	G	5: 147,018,961	V675A	probably damaging	Het
Med13	T	C	11: 86,285,151	T1673A	probably benign	Het
Mif	A	G	10: 75,860,140	V10A	possibly damaging	Het
Mki67	A	T	7: 135,699,429	I1292N	possibly damaging	Het
Mylip	C	A	13: 45,404,583	N89K	probably benign	Het
Myo19	G	T	11: 84,909,419	D877Y	probably benign	Het
Nckap5	A	G	1: 126,026,365	S753P	possibly damaging	Het
Nlrc3	T	C	16: 3,965,192	T118A	possibly damaging	Het
Nptx2	T	C	5: 144,553,459	Y233H	probably damaging	Het
Nsl1	T	A	1: 191,063,040	M1K	probably null	Het
Ntsr1	T	A	2: 180,501,056	S213R	possibly damaging	Het
Olfr1225	A	T	2: 89,170,631	F194I	probably benign	Het
Olfr48	A	G	2: 89,844,169	V268A	probably benign	Het
Olfr669	T	A	7: 104,938,814	F96Y	possibly damaging	Het
Pde4d	G	A	13: 109,936,710	V347I	probably benign	Het
Pik3r4	T	A	9: 105,669,045	S865T	probably benign	Het
Ppp2r2d	A	G	7: 138,870,431	R136G	probably benign	Het
Proser2	A	C	2: 6,113,910	S41A	probably damaging	Het
Proz	A	T	8: 13,073,460	K244*	probably null	Het
Prpf38b	A	T	3: 108,905,270	L209H	probably damaging	Het
R3hdm1	C	A	1: 128,184,517	A390E	probably benign	Het
Rb1cc1	A	C	1: 6,240,323	D315A	probably damaging	Het
Rnf141	G	A	7: 110,837,138	R28*	probably null	Het
Rps6kc1	A	T	1: 190,799,430	S792T	probably benign	Het
Rxrg	A	G	1: 167,631,037	D233G	possibly damaging	Het
Sh2d7	A	G	9: 54,541,037	N114S	probably benign	Het
Slc25a38	T	C	9: 120,120,833	V205A	probably benign	Het
Slc4a10	T	C	2: 62,297,017		probably benign	Het
Spred1	T	A	2: 117,152,978		probably null	Het
Stt3b	A	G	9: 115,248,567	S706P	probably benign	Het
Tcerg1	C	A	18: 42,564,240		probably benign	Het
Thsd4	A	T	9: 60,002,978	I109N	probably damaging	Het
Ticrr	C	A	7: 79,694,488	P1367Q	probably damaging	Het
Trpv1	A	G	11: 73,239,429	D146G	probably damaging	Het
Tubd1	T	G	11: 86,557,776	V305G	possibly damaging	Het
Tubgcp4	T	C	2: 121,175,374	L81P	probably benign	Het
Ubxn2b	T	A	4: 6,196,404		probably null	Het
Usp36	A	T	11: 118,265,194	S586T	probably benign	Het
Vcan	T	A	13: 89,678,145	D2220V	probably damaging	Het
Vmn1r173	T	A	7: 23,702,791	N150K	probably damaging	Het
Vmn1r70	G	A	7: 10,634,277	A231T	probably damaging	Het
Vmn2r97	A	G	17: 18,947,668	D728G	probably damaging	Het
Zbtb40	T	C	4: 136,983,228	E1200G	probably damaging	Het
Zfp365	A	T	10: 67,897,606	V252D	probably damaging	Het

Other mutations in Ccdc174

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01633:Ccdc174	APN	6	91880362	critical splice donor site	probably null
IGL02391:Ccdc174	APN	6	91898282	missense	possibly damaging	0.72
IGL02619:Ccdc174	APN	6	91899557	missense	possibly damaging	0.70
IGL02698:Ccdc174	APN	6	91890853	missense	probably benign
R0612:Ccdc174	UTSW	6	91890892	splice site	probably benign
R0801:Ccdc174	UTSW	6	91895332	missense	possibly damaging	0.72
R1124:Ccdc174	UTSW	6	91899580	missense	probably benign	0.33
R1237:Ccdc174	UTSW	6	91890787	splice site	probably benign
R1388:Ccdc174	UTSW	6	91881244	splice site	probably null
R2176:Ccdc174	UTSW	6	91888089	missense	probably benign	0.01
R3914:Ccdc174	UTSW	6	91899357	missense	possibly damaging	0.70
R4342:Ccdc174	UTSW	6	91885356	nonsense	probably null
R4775:Ccdc174	UTSW	6	91890894	splice site	probably null
R4880:Ccdc174	UTSW	6	91899591	unclassified	probably benign
R5579:Ccdc174	UTSW	6	91881350	splice site	probably null
R5787:Ccdc174	UTSW	6	91881310	nonsense	probably null
R5869:Ccdc174	UTSW	6	91885418	utr 3 prime	probably benign
R6277:Ccdc174	UTSW	6	91880291	missense	probably damaging	1.00
R8492:Ccdc174	UTSW	6	91888157	missense	probably benign	0.03
RF008:Ccdc174	UTSW	6	91899366	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TCCTAAGCATCAGAGGCTGTGACG -3'
(R):5'- AGCCCTATGAGTGAGACACTGTAGAC -3'

Sequencing Primer
(F):5'- tgtcctgaaactcgctctg -3'
(R):5'- TGAGTGAGACACTGTAGACATAACC -3'

Posted On

2013-05-23