Mutagenetix > Incidental Mutations

Incidental Mutation 'R5799:Efcc1'

447396

Institutional Source

Beutler Lab

Gene Symbol

Efcc1

Ensembl Gene

ENSMUSG00000068263

Gene Name

EF hand and coiled-coil domain containing 1

Synonyms

AB041550, Ccdc48

MMRRC Submission

043388-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R5799 (G1)

Quality Score

138

Status

Validated

Chromosome

Chromosomal Location

87730869-87755908 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87731182 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 97 (N97S)

Ref Sequence

ENSEMBL: ENSMUSP00000032132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032132] [ENSMUST00000159570]

Predicted Effect

probably benign
Transcript: ENSMUST00000032132
AA Change: N97S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000032132
Gene: ENSMUSG00000068263
AA Change: N97S

Domain	Start	End	E-Value	Type
Pfam:CCD48	7	558	3.6e-295	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159570
AA Change: N97S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000138649
Gene: ENSMUSG00000068263
AA Change: N97S

Domain	Start	End	E-Value	Type
low complexity region	160	170	N/A	INTRINSIC
coiled coil region	179	307	N/A	INTRINSIC
low complexity region	344	355	N/A	INTRINSIC
low complexity region	479	492	N/A	INTRINSIC
low complexity region	539	553	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205253

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

89% (51/57)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	T	C	10: 116,112,769	E284G	probably damaging	Het
AA986860	C	T	1: 130,741,171	Q92*	probably null	Het
Accsl	T	C	2: 93,864,403		probably null	Het
Ahnak2	T	C	12: 112,778,930		probably benign	Het
Alcam	T	C	16: 52,309,849	D46G	probably benign	Het
Asap2	T	C	12: 21,168,246	S57P	probably damaging	Het
Atg14	A	T	14: 47,547,295	V314D	possibly damaging	Het
C230029F24Rik	C	T	1: 49,338,148		noncoding transcript	Het
Calcr	A	T	6: 3,707,592	I236N	probably benign	Het
Cass4	G	A	2: 172,416,187	G35E	probably damaging	Het
Chmp6	T	C	11: 119,916,691	I120T	probably benign	Het
Col13a1	A	G	10: 61,849,140		probably benign	Het
Ddhd2	T	A	8: 25,748,602	L328F	probably damaging	Het
Dnmt3l	A	G	10: 78,052,026	D123G	possibly damaging	Het
Eea1	T	A	10: 96,002,948	V287E	possibly damaging	Het
Exd1	A	G	2: 119,538,781	S118P	probably benign	Het
Ext2	G	T	2: 93,811,972	T184K	probably benign	Het
Fam186a	G	A	15: 99,966,824	Q42*	probably null	Het
Gbp2	A	T	3: 142,632,082	I320L	probably benign	Het
Gm15292	T	A	8: 21,250,343		probably null	Het
Gm5483	T	A	16: 36,184,261	M1K	probably null	Het
Gramd2	G	A	9: 59,708,016	G13R	probably benign	Het
H2-Q5	T	C	17: 35,394,139	M5T	unknown	Het
Jak3	C	T	8: 71,678,700	L70F	probably damaging	Het
Lhpp	G	A	7: 132,705,635	V254M	probably damaging	Het
Lig1	T	A	7: 13,296,258	V387E	possibly damaging	Het
Lipo1	T	C	19: 33,777,693		probably benign	Het
Lrrc8b	C	T	5: 105,481,342	S518L	probably benign	Het
Narf	T	C	11: 121,244,654	Y111H	probably damaging	Het
Ncf4	A	G	15: 78,250,977	K78R	probably benign	Het
Nrap	A	T	19: 56,342,169	C1118*	probably null	Het
Nubp2	A	G	17: 24,885,798	V23A	probably damaging	Het
Olfr723	A	T	14: 49,929,040	F168Y	probably damaging	Het
Olfr818	A	T	10: 129,945,911	D50E	possibly damaging	Het
Olfr972	T	C	9: 39,874,096	S274P	possibly damaging	Het
Pdzd7	G	A	19: 45,036,989	P356S	probably benign	Het
Rttn	T	C	18: 89,037,946	V984A	probably damaging	Het
Ryr3	A	G	2: 112,686,580	S3334P	probably damaging	Het
Senp7	G	A	16: 56,139,105		probably null	Het
Slc25a3	A	C	10: 91,122,041	Y50D	probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc38a2	A	T	15: 96,695,089	S163T	probably benign	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Stam2	A	T	2: 52,720,910	C4*	probably null	Het
Taf1a	A	G	1: 183,395,934	D50G	possibly damaging	Het
Taf6l	A	T	19: 8,782,631	Y106N	possibly damaging	Het
Tbx20	G	A	9: 24,725,520	Q424*	probably null	Het
Tex10	A	G	4: 48,433,295	V829A	possibly damaging	Het
Tgfbr3	T	C	5: 107,109,608		probably benign	Het
Tnfsf10	G	T	3: 27,335,593	V268F	probably damaging	Het
Trrap	A	G	5: 144,830,945	T2571A	probably benign	Het

Other mutations in Efcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02868:Efcc1	APN	6	87751761	splice site	probably benign
R0211:Efcc1	UTSW	6	87749154	missense	probably benign	0.06
R0211:Efcc1	UTSW	6	87749154	missense	probably benign	0.06
R1531:Efcc1	UTSW	6	87731166	missense	probably benign	0.28
R1595:Efcc1	UTSW	6	87731458	missense	probably damaging	0.99
R1757:Efcc1	UTSW	6	87749283	splice site	probably benign
R4037:Efcc1	UTSW	6	87731508	nonsense	probably null
R4534:Efcc1	UTSW	6	87753151	missense	probably null	1.00
R4535:Efcc1	UTSW	6	87753151	missense	probably null	1.00
R6010:Efcc1	UTSW	6	87753729	splice site	probably null
R7235:Efcc1	UTSW	6	87753798	missense	probably benign	0.00
R7375:Efcc1	UTSW	6	87751856	missense	possibly damaging	0.75
R7478:Efcc1	UTSW	6	87730990	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTACCGGTCTGGATCAGTATC -3'
(R):5'- CGCGTAGGCTACTGTTTTCC -3'

Sequencing Primer
(F):5'- CCGGTCTGGATCAGTATCTGCAG -3'
(R):5'- TCTAGATGTGCCACCCGC -3'

Posted On

2016-12-15