Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02494:Ccdc14'

295777

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc14

Ensembl Gene

ENSMUSG00000022833

Gene Name

coiled-coil domain containing 14

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.420) question?

Stock #

IGL02494

Quality Score

Status

Chromosome

Chromosomal Location

34690616-34725202 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34723414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 714 (Y714C)

Ref Sequence

ENSEMBL: ENSMUSP00000156124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023532] [ENSMUST00000231609]

AlphaFold

Q8K2J4

Predicted Effect

probably damaging
Transcript: ENSMUST00000023532
AA Change: Y762C

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

SMART Domains

Protein: ENSMUSP00000023532
Gene: ENSMUSG00000022833
AA Change: Y762C

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:CCDC14	96	934	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231364

Predicted Effect

probably damaging
Transcript: ENSMUST00000231609
AA Change: Y714C

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	C	T	4: 49,541,138	C178Y	possibly damaging	Het
Arg2	A	G	12: 79,151,923	R242G	probably benign	Het
Ash1l	T	A	3: 89,066,218	L2528*	probably null	Het
Astn2	T	A	4: 65,992,348	M468L	probably benign	Het
Bglap2	A	T	3: 88,377,936	C74*	probably null	Het
Cand1	A	G	10: 119,213,617	V408A	probably benign	Het
Ccdc88c	C	T	12: 100,945,475	G707D	probably benign	Het
Cdk13	G	A	13: 17,739,125	R890*	probably null	Het
Cep192	A	G	18: 67,804,383	E61G	probably benign	Het
Ctdspl	T	C	9: 119,037,416	L181P	probably damaging	Het
Dock7	C	T	4: 98,989,234	V442M	probably benign	Het
Dopey1	T	C	9: 86,526,818	V1860A	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fscn2	G	A	11: 120,362,402	V232M	probably benign	Het
Gemin5	A	T	11: 58,121,757	C1458S	probably benign	Het
Glrb	A	G	3: 80,845,232	V408A	probably benign	Het
Gtse1	C	T	15: 85,867,503	P299L	probably damaging	Het
Hcfc1r1	T	A	17: 23,674,585	M46K	probably damaging	Het
Hdc	A	G	2: 126,594,121	F610S	probably benign	Het
Hip1	A	T	5: 135,444,791	C224*	probably null	Het
Hsd17b10	G	T	X: 152,004,234	A241S	probably benign	Het
Igsf10	G	T	3: 59,328,006	Q1585K	probably damaging	Het
Kat2b	T	C	17: 53,653,205	Y514H	probably damaging	Het
Krt78	T	C	15: 101,954,051	I58M	probably benign	Het
Lcat	C	A	8: 105,941,939		probably benign	Het
Naca	G	A	10: 128,041,310		probably benign	Het
Nbea	T	C	3: 55,805,351	K2102E	probably benign	Het
Ocrl	G	A	X: 47,933,438	D262N	probably benign	Het
Olfr1272	G	A	2: 90,281,951	S208F	probably benign	Het
Olfr371	C	A	8: 85,230,683	L63I	possibly damaging	Het
Olfr395	A	C	11: 73,906,724	I256S	possibly damaging	Het
Olfr732	A	T	14: 50,282,226	V9D	probably damaging	Het
Patj	T	A	4: 98,703,987		probably benign	Het
Pcdhb17	G	A	18: 37,485,294	A46T	possibly damaging	Het
Phf8	T	C	X: 151,625,231	V859A	probably benign	Het
Plec	T	A	15: 76,176,779	E3054V	probably damaging	Het
Prr12	C	A	7: 45,028,846	K1958N	unknown	Het
Psmf1	A	G	2: 151,741,009		probably null	Het
Rsu1	T	C	2: 13,217,191		probably null	Het
Samm50	T	C	15: 84,195,814	V31A	probably benign	Het
St14	A	G	9: 31,108,645	V56A	possibly damaging	Het
Trpc1	T	C	9: 95,708,307	N699S	probably damaging	Het
Ttn	A	T	2: 76,743,800	M25583K	probably damaging	Het
Utrn	A	G	10: 12,710,054	V993A	probably benign	Het

Other mutations in Ccdc14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Ccdc14	APN	16	34723213	missense	probably damaging	1.00
IGL02338:Ccdc14	APN	16	34721803	missense	probably benign	0.00
IGL02648:Ccdc14	APN	16	34697158	missense	probably damaging	1.00
R0632:Ccdc14	UTSW	16	34721649	missense	possibly damaging	0.86
R1199:Ccdc14	UTSW	16	34723828	missense	probably damaging	1.00
R1469:Ccdc14	UTSW	16	34706782	missense	probably damaging	0.99
R1469:Ccdc14	UTSW	16	34706782	missense	probably damaging	0.99
R2012:Ccdc14	UTSW	16	34690722	missense	possibly damaging	0.83
R2087:Ccdc14	UTSW	16	34695645	critical splice donor site	probably null
R2337:Ccdc14	UTSW	16	34705018	missense	probably benign	0.04
R2504:Ccdc14	UTSW	16	34721850	nonsense	probably null
R3155:Ccdc14	UTSW	16	34723852	missense	probably damaging	1.00
R4618:Ccdc14	UTSW	16	34706495	missense	probably benign	0.08
R4645:Ccdc14	UTSW	16	34721740	missense	probably damaging	1.00
R4835:Ccdc14	UTSW	16	34705038	missense	probably damaging	1.00
R5186:Ccdc14	UTSW	16	34721585	missense	probably damaging	1.00
R5214:Ccdc14	UTSW	16	34704855	missense	probably benign	0.24
R5319:Ccdc14	UTSW	16	34723172	missense	probably damaging	0.99
R5921:Ccdc14	UTSW	16	34706391	missense	probably damaging	0.99
R5945:Ccdc14	UTSW	16	34723588	missense	probably damaging	1.00
R6141:Ccdc14	UTSW	16	34706562	missense	probably damaging	1.00
R6662:Ccdc14	UTSW	16	34690794	missense	probably damaging	1.00
R6925:Ccdc14	UTSW	16	34690749	missense	probably benign	0.29
R6958:Ccdc14	UTSW	16	34690806	missense	probably damaging	1.00
R6970:Ccdc14	UTSW	16	34709533	missense	probably damaging	1.00
R7365:Ccdc14	UTSW	16	34723619	nonsense	probably null
R7845:Ccdc14	UTSW	16	34715364	missense	probably damaging	1.00
R7889:Ccdc14	UTSW	16	34723836	missense	probably damaging	1.00
R7903:Ccdc14	UTSW	16	34704910	missense	probably damaging	0.99
R8093:Ccdc14	UTSW	16	34709652	missense	probably damaging	1.00
R8207:Ccdc14	UTSW	16	34705043	missense	possibly damaging	0.62
R8368:Ccdc14	UTSW	16	34723372	missense	probably benign	0.00
R9060:Ccdc14	UTSW	16	34697116	missense	probably benign	0.41
R9128:Ccdc14	UTSW	16	34706789	missense	probably damaging	1.00
R9163:Ccdc14	UTSW	16	34690748	missense	possibly damaging	0.93
R9294:Ccdc14	UTSW	16	34697358	missense	probably damaging	0.99
R9318:Ccdc14	UTSW	16	34704918	missense	possibly damaging	0.90
Z1088:Ccdc14	UTSW	16	34690804	start codon destroyed	probably null	0.98
Z1176:Ccdc14	UTSW	16	34706498	missense	probably damaging	1.00
Z1177:Ccdc14	UTSW	16	34723670	missense	probably damaging	1.00

Posted On

2015-04-16