Mutagenetix > Incidental Mutation

Incidental Mutation 'R6277:Ccdc174'

507705

Institutional Source

Beutler Lab

Gene Symbol

Ccdc174

Ensembl Gene

ENSMUSG00000034083

Gene Name

coiled-coil domain containing 174

Synonyms

MMRRC Submission

044447-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91878053-91899843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91880291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 26 (Q26L)

Ref Sequence

ENSEMBL: ENSMUSP00000146317 (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: Q26L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049280
Gene: ENSMUSG00000034083
AA Change: Q26L

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 damaging
Transcript: ENSMUST00000136090
AA Change: Q26L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206250

Meta Mutation Damage Score

0.5494

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.2%

Validation Efficiency

96% (70/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,663,694	Y105H	possibly damaging	Het
4921539E11Rik	A	T	4: 103,231,471	Y179*	probably null	Het
Abca7	G	C	10: 80,006,158	V1042L	probably benign	Het
Adck5	C	A	15: 76,593,263	T99K	possibly damaging	Het
Adcy5	A	G	16: 35,289,526	T823A	probably benign	Het
Adra1d	G	T	2: 131,561,163	R336S	probably damaging	Het
Arhgap39	A	T	15: 76,735,137	M749K	probably damaging	Het
Arid4a	A	G	12: 71,039,891	R168G	possibly damaging	Het
Atxn10	A	G	15: 85,391,692	T317A	probably benign	Het
Bicc1	T	C	10: 71,027,901	K22E	possibly damaging	Het
Cacna1b	T	G	2: 24,730,796	T281P	probably damaging	Het
Celf3	T	C	3: 94,485,365	C124R	probably damaging	Het
Cfap44	A	G	16: 44,437,306	E1068G	probably benign	Het
Crybg1	T	A	10: 43,997,259	E1284D	probably benign	Het
Dcbld2	T	A	16: 58,451,756	Y392N	probably damaging	Het
Dcbld2	C	T	16: 58,465,503	P675L	probably damaging	Het
Dnah12	A	T	14: 26,770,482	H1193L	probably damaging	Het
Ern2	A	G	7: 122,186,107	F16L	probably benign	Het
Fam163b	G	T	2: 27,112,751	T78N	probably benign	Het
Fbxw21	A	T	9: 109,145,555	I299K	possibly damaging	Het
Foxg1	A	G	12: 49,385,516	N344S	probably benign	Het
Git2	A	G	5: 114,733,247	I202T	probably damaging	Het
Gm11595	G	T	11: 99,772,684	P57T	unknown	Het
Gm11639	G	C	11: 105,010,322	E4422D	possibly damaging	Het
Gm12258	G	A	11: 58,854,287	V15M	probably damaging	Het
Gm13119	A	G	4: 144,363,653	E421G	probably damaging	Het
Gm15056	C	T	8: 20,900,898	G40S	probably damaging	Het
Gm960	G	T	19: 4,627,222	S466*	probably null	Het
Gnal	C	A	18: 67,213,072	H274Q	probably damaging	Het
Hormad2	A	T	11: 4,421,583		probably null	Het
Ighv7-2	A	G	12: 113,912,467	I6T	probably benign	Het
Irf9	A	G	14: 55,607,652	D323G	probably benign	Het
Klhl23	G	T	2: 69,833,752	D482Y	probably damaging	Het
Lama4	A	G	10: 39,106,010	N1745S	probably damaging	Het
Lct	T	A	1: 128,304,237	Y625F	probably benign	Het
Lrrc26	T	C	2: 25,290,104	V39A	probably benign	Het
Mllt6	G	A	11: 97,673,948	A527T	probably damaging	Het
Mrgprb4	T	A	7: 48,198,901	D93V	probably benign	Het
Nlrp5	A	G	7: 23,421,455	D698G	probably damaging	Het
Olfr62	T	A	4: 118,666,323	S269T	probably benign	Het
Pacsin1	T	A	17: 27,705,995		probably null	Het
Padi3	A	T	4: 140,791,161		probably null	Het
Pcdha8	T	C	18: 36,994,358	I631T	probably damaging	Het
Pkn3	G	A	2: 30,082,945	G315D	possibly damaging	Het
Ppfibp1	T	A	6: 147,005,924	D228E	probably benign	Het
Prag1	G	T	8: 36,146,591	R1099L	probably damaging	Het
Prr36	A	G	8: 4,214,746		probably benign	Het
Prrc2c	A	G	1: 162,714,314	S369P	probably benign	Het
Ptprn2	A	G	12: 116,876,180	D441G	probably benign	Het
Slc9c1	G	A	16: 45,606,841		probably benign	Het
Slit1	G	A	19: 41,600,509	T1513I	possibly damaging	Het
Smcr8	C	T	11: 60,778,809	T261M	probably benign	Het
Spata17	G	A	1: 187,193,954	R60*	probably null	Het
Speer4f1	A	G	5: 17,476,243	R40G	probably damaging	Het
Spns3	A	G	11: 72,529,640	V340A	possibly damaging	Het
Srgap3	T	C	6: 112,739,383	I595V	probably benign	Het
Srms	G	A	2: 181,206,245	A489V	possibly damaging	Het
St3gal4	T	C	9: 35,053,262	N169S	probably damaging	Het
Taar5	T	A	10: 23,971,271	V189E	probably damaging	Het
Tbc1d32	G	A	10: 56,195,429	P333L	probably benign	Het
Tet3	G	T	6: 83,368,084	Y1790*	probably null	Het
Ticrr	T	A	7: 79,694,696	H1436Q	probably benign	Het
Ubl7	C	T	9: 57,923,272	L334F	possibly damaging	Het
Unc13a	A	G	8: 71,666,639		probably null	Het
Unc13c	T	C	9: 73,699,169	D1303G	probably damaging	Het
Vmn2r114	A	G	17: 23,290,980	L842P	possibly damaging	Het
Vps35	G	T	8: 85,261,228	Q765K	possibly damaging	Het
Zfp72	G	T	13: 74,372,524	S145*	probably null	Het
Zgrf1	C	T	3: 127,598,812	A1327V	possibly damaging	Het
Zkscan6	T	A	11: 65,828,157	S334R	probably benign	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
R0482:Ccdc174	UTSW	6	91895266	missense	probably benign	0.08
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
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'- GAGTTCTCGCTGCCCCATTC -3'
(R):5'- GTATTCACACAAGTGCACATACACA -3'

Sequencing Primer
(F):5'- ACCATCATGTAGTTGCCAGG -3'
(R):5'- GTGCACATACACACAACATACATTAG -3'

Posted On

2018-03-15