Mutagenetix > Incidental Mutations

Incidental Mutation 'R6662:Ccdc14'

528036

Institutional Source

Beutler Lab

Gene Symbol

Ccdc14

Ensembl Gene

ENSMUSG00000022833

Gene Name

coiled-coil domain containing 14

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.491) question?

Stock #

R6662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34690616-34725202 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34690794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 46 (L46P)

Ref Sequence

ENSEMBL: ENSMUSP00000023532 (fasta)

Gene Model

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

AlphaFold

Q8K2J4

Predicted Effect

probably damaging
Transcript: ENSMUST00000023532
AA Change: L46P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023532
Gene: ENSMUSG00000022833
AA Change: L46P

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 benign
Transcript: ENSMUST00000231609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232489

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,073,853		probably null	Het
Acox1	A	G	11: 116,175,323	Y418H	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Aldh3a1	G	A	11: 61,214,655	V196I	probably benign	Het
Aox3	A	G	1: 58,118,615	K44E	probably damaging	Het
Bad	T	A	19: 6,951,070		probably benign	Het
BC034090	G	T	1: 155,226,339	Q60K	possibly damaging	Het
Casp6	A	G	3: 129,912,226	T181A	probably benign	Het
Catsperg2	G	A	7: 29,719,513		probably benign	Het
Ces1b	A	G	8: 93,064,069	L364S	probably benign	Het
Cfap45	T	C	1: 172,529,850	I15T	probably benign	Het
D730048I06Rik	C	A	9: 35,790,000	R6M	possibly damaging	Het
Dph5	G	A	3: 115,928,556	E228K	probably benign	Het
Fat4	G	T	3: 38,956,821	L2023F	possibly damaging	Het
Garem1	T	C	18: 21,148,247	N351D	probably benign	Het
Gm14124	G	A	2: 150,266,252		probably null	Het
Grm2	C	T	9: 106,648,053	A488T	probably benign	Het
Ifit3b	A	G	19: 34,611,937	E171G	probably damaging	Het
Il1rn	A	T	2: 24,336,875		probably null	Het
Itih5	A	T	2: 10,249,181	I748F	probably benign	Het
Kcnh5	C	A	12: 75,007,611	D520Y	probably damaging	Het
Mgat5	C	A	1: 127,469,237	H574N	probably damaging	Het
Moxd1	A	C	10: 24,284,760	D437A	probably damaging	Het
Mybpc2	A	G	7: 44,506,166	F888L	probably benign	Het
Ncs1	T	A	2: 31,287,360	L183Q	probably damaging	Het
Neto2	A	T	8: 85,663,215	D206E	probably damaging	Het
Omp	A	G	7: 98,145,339	L27P	probably damaging	Het
Oxsm	A	G	14: 16,242,287	S161P	probably benign	Het
Pde4b	A	G	4: 102,601,898	I381M	possibly damaging	Het
Pramel5	A	T	4: 144,273,105	N137K	probably benign	Het
Prss33	T	C	17: 23,833,960	S247G	probably damaging	Het
Rassf9	T	A	10: 102,546,038	L425Q	possibly damaging	Het
Setx	A	T	2: 29,158,114	D1909V	probably damaging	Het
Slc26a3	A	T	12: 31,457,346	K402*	probably null	Het
Slco1a6	G	A	6: 142,133,215	T118I	probably damaging	Het
Syne1	A	G	10: 5,128,416	L6769P	probably damaging	Het
Tas2r107	A	T	6: 131,659,489	V199D	possibly damaging	Het
Tchp	A	G	5: 114,720,015		probably null	Het
Trdn	A	T	10: 33,474,487	N684I	probably damaging	Het
Trio	G	T	15: 27,854,996	T700K	probably benign	Het
Ttn	C	T	2: 76,755,898	V20084I	probably benign	Het
Ubl3	A	T	5: 148,509,306	Y62*	probably null	Het
Uckl1	A	G	2: 181,573,260	Y267H	possibly damaging	Het
Zfp786	T	C	6: 47,826,986	N41D	probably damaging	Het
Zfp983	T	C	17: 21,662,085	S310P	probably damaging	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
IGL02494:Ccdc14	APN	16	34723414	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CGAAGGAAAACCTTTTAGCGC -3'
(R):5'- GCACAATTGCTGGATAACTACG -3'

Sequencing Primer
(F):5'- ACCTTTTAGCGCCAAGGAG -3'
(R):5'- TCACTGCACTGGTGATAAAGGC -3'

Posted On

2018-07-24