Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02868:Efcc1'

362417

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Efcc1

Ensembl Gene

ENSMUSG00000068263

Gene Name

EF hand and coiled-coil domain containing 1

Synonyms

AB041550, Ccdc48

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL02868

Quality Score

Status

Chromosome

Chromosomal Location

87707851-87732890 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 87728743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138649 (fasta)

Gene Model

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

AlphaFold

Q9JJF6

Predicted Effect

probably benign
Transcript: ENSMUST00000032132

SMART Domains

Protein: ENSMUSP00000032132
Gene: ENSMUSG00000068263

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159570

SMART Domains

Protein: ENSMUSP00000138649
Gene: ENSMUSG00000068263

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: ENSMUST00000159681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159956

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap4	A	G	X: 72,944,008 (GRCm39)	I224T	probably benign	Het
Atp12a	A	G	14: 56,621,639 (GRCm39)	D758G	probably damaging	Het
Clca3b	C	A	3: 144,533,325 (GRCm39)	G569V	probably damaging	Het
Dlgap4	G	A	2: 156,542,816 (GRCm39)	R73Q	probably damaging	Het
Eno3	T	A	11: 70,552,826 (GRCm39)	V369E	probably damaging	Het
Espl1	T	A	15: 102,222,425 (GRCm39)	C1022*	probably null	Het
Grhl3	T	C	4: 135,281,915 (GRCm39)	D319G	probably damaging	Het
Huwe1	G	A	X: 150,691,829 (GRCm39)	R2538H	possibly damaging	Het
Lrrc37	A	T	11: 103,505,965 (GRCm39)	L2001H	probably benign	Het
Ms4a4d	T	A	19: 11,527,646 (GRCm39)	I51N	probably damaging	Het
Mtmr9	T	C	14: 63,761,588 (GRCm39)	N522S	probably benign	Het
Nfe2l1	A	G	11: 96,710,966 (GRCm39)	I133T	probably damaging	Het
Ninl	A	G	2: 150,778,974 (GRCm39)	Y1296H	probably benign	Het
Nipal3	A	G	4: 135,194,182 (GRCm39)	S284P	probably damaging	Het
Or4k40	A	T	2: 111,250,838 (GRCm39)	F153I	possibly damaging	Het
Or5g9	A	T	2: 85,551,919 (GRCm39)	T57S	probably benign	Het
Pramel5	G	T	4: 143,997,922 (GRCm39)	N440K	probably benign	Het
Rabep1	T	C	11: 70,765,572 (GRCm39)	V12A	probably benign	Het
Rbm5	G	T	9: 107,626,899 (GRCm39)		probably benign	Het
Ric3	T	C	7: 108,653,626 (GRCm39)	E155G	probably damaging	Het
Slc12a7	T	A	13: 73,954,507 (GRCm39)	M897K	probably benign	Het
Slc39a8	G	T	3: 135,561,787 (GRCm39)	A169S	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Synrg	G	A	11: 83,877,876 (GRCm39)		probably benign	Het
Tas2r107	T	C	6: 131,636,249 (GRCm39)	T267A	probably benign	Het
Tead3	G	T	17: 28,552,069 (GRCm39)	Y354*	probably null	Het
Trim3	T	C	7: 105,262,239 (GRCm39)	K579R	possibly damaging	Het
Uaca	A	T	9: 60,770,919 (GRCm39)	K362M	probably damaging	Het
Vmn2r94	A	G	17: 18,464,316 (GRCm39)	I658T	possibly damaging	Het
Vps13b	C	T	15: 35,884,665 (GRCm39)	P3113S	probably benign	Het
Zfp251	A	G	15: 76,738,734 (GRCm39)	S115P	probably damaging	Het
Zfp683	G	A	4: 133,783,177 (GRCm39)	V214M	probably benign	Het

Other mutations in Efcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0211:Efcc1	UTSW	6	87,726,136 (GRCm39)	missense	probably benign	0.06
R0211:Efcc1	UTSW	6	87,726,136 (GRCm39)	missense	probably benign	0.06
R1531:Efcc1	UTSW	6	87,708,148 (GRCm39)	missense	probably benign	0.28
R1595:Efcc1	UTSW	6	87,708,440 (GRCm39)	missense	probably damaging	0.99
R1757:Efcc1	UTSW	6	87,726,265 (GRCm39)	splice site	probably benign
R4037:Efcc1	UTSW	6	87,708,490 (GRCm39)	nonsense	probably null
R4534:Efcc1	UTSW	6	87,730,133 (GRCm39)	missense	probably null	1.00
R4535:Efcc1	UTSW	6	87,730,133 (GRCm39)	missense	probably null	1.00
R5799:Efcc1	UTSW	6	87,708,164 (GRCm39)	missense	probably benign	0.05
R6010:Efcc1	UTSW	6	87,730,711 (GRCm39)	splice site	probably null
R7235:Efcc1	UTSW	6	87,730,780 (GRCm39)	missense	probably benign	0.00
R7375:Efcc1	UTSW	6	87,728,838 (GRCm39)	missense	possibly damaging	0.75
R7478:Efcc1	UTSW	6	87,707,972 (GRCm39)	missense	probably damaging	1.00
R8116:Efcc1	UTSW	6	87,728,772 (GRCm39)	missense	probably damaging	0.97
R8926:Efcc1	UTSW	6	87,726,169 (GRCm39)	missense	probably benign	0.06
R8948:Efcc1	UTSW	6	87,728,768 (GRCm39)	missense	probably benign	0.10
Z1176:Efcc1	UTSW	6	87,709,778 (GRCm39)	missense	probably benign	0.09

Posted On

2015-12-18