Mutagenetix > Incidental Mutation

Incidental Mutation 'R4324:Enc1'

323977

Institutional Source

Beutler Lab

Gene Symbol

Enc1

Ensembl Gene

ENSMUSG00000041773

Gene Name

ectodermal-neural cortex 1

Synonyms

PIG10, Nrpb

MMRRC Submission

041095-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97377613-97389542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97382405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 305 (F305S)

Ref Sequence

ENSEMBL: ENSMUSP00000038783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041623]

AlphaFold

O35709

Predicted Effect

probably benign
Transcript: ENSMUST00000041623
AA Change: F305S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038783
Gene: ENSMUSG00000041773
AA Change: F305S

Domain	Start	End	E-Value	Type
BTB	46	144	8.4e-32	SMART
BACK	149	251	7.5e-33	SMART
Kelch	296	340	3.89e0	SMART
Kelch	341	388	2.69e-9	SMART
Kelch	389	444	7.77e-15	SMART
Kelch	445	492	1.97e0	SMART
Kelch	493	538	2.9e-1	SMART
Kelch	539	585	1.5e-7	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afp	A	G	5: 90,655,764 (GRCm39)	D583G	probably benign	Het
Alg9	T	G	9: 50,716,643 (GRCm39)	H22Q	probably damaging	Het
Aqp6	G	A	15: 99,499,291 (GRCm39)	M1I	probably null	Het
Arhgef10	T	A	8: 14,990,335 (GRCm39)	I270N	possibly damaging	Het
Asb13	G	T	13: 3,695,012 (GRCm39)	R160L	possibly damaging	Het
Atg10	T	A	13: 91,189,085 (GRCm39)	D75V	probably damaging	Het
Atxn7l2	A	T	3: 108,113,148 (GRCm39)	D218E	probably damaging	Het
Ccdc191	A	G	16: 43,767,872 (GRCm39)	E624G	probably damaging	Het
Cdan1	T	C	2: 120,555,460 (GRCm39)	I760M	probably damaging	Het
Cdk14	T	A	5: 5,086,532 (GRCm39)	K263*	probably null	Het
Cdk5rap2	A	T	4: 70,271,851 (GRCm39)	I287N	probably damaging	Het
Cdkn2aip	A	T	8: 48,165,208 (GRCm39)	S168R	probably benign	Het
Dnah17	C	T	11: 117,985,039 (GRCm39)	V1555M	probably benign	Het
Dsel	T	C	1: 111,789,123 (GRCm39)	T471A	probably damaging	Het
Dzank1	T	C	2: 144,330,618 (GRCm39)	E478G	possibly damaging	Het
Epn1	T	A	7: 5,100,210 (GRCm39)	M441K	probably benign	Het
Fbxw24	C	T	9: 109,434,013 (GRCm39)		probably null	Het
Gad1	G	A	2: 70,420,174 (GRCm39)	D353N	probably damaging	Het
Ggcx	A	G	6: 72,405,803 (GRCm39)	S545G	probably benign	Het
H2-K2	C	T	17: 34,219,014 (GRCm39)	V30M	possibly damaging	Het
Hipk3	C	A	2: 104,276,916 (GRCm39)	V388L	probably damaging	Het
Krt82	T	A	15: 101,450,182 (GRCm39)	M505L	probably benign	Het
Man2a1	A	G	17: 64,973,788 (GRCm39)	I355V	probably benign	Het
Or5p53	C	T	7: 107,532,900 (GRCm39)	P58S	probably damaging	Het
Pcbp3	G	A	10: 76,599,177 (GRCm39)	R109*	probably null	Het
Pcgf1	T	C	6: 83,056,938 (GRCm39)		probably null	Het
Plekhm2	A	T	4: 141,359,168 (GRCm39)	V533E	possibly damaging	Het
Prss3	T	G	6: 41,350,779 (GRCm39)	D237A	probably benign	Het
Rnf125	G	A	18: 21,110,817 (GRCm39)	R25K	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Shc4	T	A	2: 125,520,670 (GRCm39)	M260L	probably benign	Het
Spag6l	T	C	16: 16,605,099 (GRCm39)	Y151C	probably benign	Het
Stac3	C	T	10: 127,339,118 (GRCm39)	P76S	probably damaging	Het
Trpc7	T	C	13: 57,035,169 (GRCm39)	I255V	probably damaging	Het
Ttn	T	C	2: 76,738,923 (GRCm39)	E3872G	probably benign	Het
Uqcrfs1	A	G	13: 30,725,141 (GRCm39)	V133A	probably benign	Het
Vmn2r52	T	A	7: 9,904,940 (GRCm39)	T300S	possibly damaging	Het
Wipi1	A	T	11: 109,494,662 (GRCm39)	I57N	possibly damaging	Het

Other mutations in Enc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Enc1	APN	13	97,381,822 (GRCm39)	missense	probably benign	0.00
IGL02010:Enc1	APN	13	97,381,588 (GRCm39)	missense	possibly damaging	0.84
IGL02642:Enc1	APN	13	97,382,042 (GRCm39)	missense	possibly damaging	0.84
IGL03342:Enc1	APN	13	97,382,978 (GRCm39)	missense	possibly damaging	0.64
R1305:Enc1	UTSW	13	97,383,208 (GRCm39)	missense	possibly damaging	0.58
R1419:Enc1	UTSW	13	97,382,692 (GRCm39)	missense	probably damaging	1.00
R1733:Enc1	UTSW	13	97,381,550 (GRCm39)	missense	possibly damaging	0.63
R1796:Enc1	UTSW	13	97,382,993 (GRCm39)	missense	possibly damaging	0.58
R1796:Enc1	UTSW	13	97,382,991 (GRCm39)	missense	probably benign	0.00
R1823:Enc1	UTSW	13	97,382,486 (GRCm39)	missense	possibly damaging	0.64
R4107:Enc1	UTSW	13	97,381,646 (GRCm39)	missense	probably damaging	1.00
R4922:Enc1	UTSW	13	97,382,243 (GRCm39)	missense	probably benign	0.08
R5942:Enc1	UTSW	13	97,382,887 (GRCm39)	missense	probably benign	0.28
R5951:Enc1	UTSW	13	97,381,765 (GRCm39)	missense	probably benign	0.02
R6229:Enc1	UTSW	13	97,381,999 (GRCm39)	missense	probably benign
R6985:Enc1	UTSW	13	97,381,628 (GRCm39)	missense	possibly damaging	0.92
R6987:Enc1	UTSW	13	97,382,144 (GRCm39)	missense	probably benign	0.14
R7307:Enc1	UTSW	13	97,381,601 (GRCm39)	missense	probably damaging	1.00
R7442:Enc1	UTSW	13	97,383,248 (GRCm39)	missense	probably benign	0.02
R9329:Enc1	UTSW	13	97,383,018 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTACCTCCCGGAACTGTTGC -3'
(R):5'- CGTAAACCCAGACATCTTTTGAG -3'

Sequencing Primer
(F):5'- CCATCTATCTCATGGAGAACGTGG -3'
(R):5'- ACCCAGACATCTTTTGAGACTCCG -3'

Posted On

2015-06-24