Mutagenetix > Incidental Mutation

Incidental Mutation 'R4922:Enc1'

378713

Institutional Source

Beutler Lab

Gene Symbol

Enc1

Ensembl Gene

ENSMUSG00000041773

Gene Name

ectodermal-neural cortex 1

Synonyms

PIG10, Nrpb

MMRRC Submission

042524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97377613-97389542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97382243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 251 (A251V)

Ref Sequence

ENSEMBL: ENSMUSP00000038783 (fasta)

Gene Model

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

AlphaFold

O35709

Predicted Effect

probably benign
Transcript: ENSMUST00000041623
AA Change: A251V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000038783
Gene: ENSMUSG00000041773
AA Change: A251V

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

Meta Mutation Damage Score

0.0621

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (76/78)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	T	4: 129,901,645 (GRCm39)	C423F	probably damaging	Het
Akap11	A	T	14: 78,750,220 (GRCm39)	Y722*	probably null	Het
Albfm1	A	G	5: 90,727,570 (GRCm39)	H396R	possibly damaging	Het
Anxa3	A	T	5: 96,968,288 (GRCm39)	I114F	probably damaging	Het
Arfgef3	T	A	10: 18,467,934 (GRCm39)	R1755S	probably damaging	Het
Atf7ip	A	T	6: 136,537,039 (GRCm39)	T91S	possibly damaging	Het
Bcl2	C	A	1: 106,640,376 (GRCm39)	A79S	probably benign	Het
Bltp1	T	A	3: 37,041,314 (GRCm39)	I2564K	probably damaging	Het
Bmerb1	A	G	16: 13,804,683 (GRCm39)	H10R	possibly damaging	Het
Bmp10	C	T	6: 87,410,557 (GRCm39)	P117S	probably benign	Het
Bmpr2	A	G	1: 59,906,583 (GRCm39)	T559A	probably benign	Het
Cd200r1	A	T	16: 44,610,039 (GRCm39)	Y86F	probably damaging	Het
Cemip	T	A	7: 83,596,308 (GRCm39)		probably benign	Het
Cfap251	T	C	5: 123,394,116 (GRCm39)	V335A	probably benign	Het
Cfap52	A	G	11: 67,822,548 (GRCm39)		probably null	Het
Chml	T	C	1: 175,514,712 (GRCm39)	H60R	possibly damaging	Het
Cic	TCCCCC	TCCCCCCCC	7: 24,991,095 (GRCm39)		probably benign	Het
Clec12a	A	G	6: 129,336,441 (GRCm39)	Y201C	probably damaging	Het
Col15a1	T	C	4: 47,258,719 (GRCm39)	V370A	probably benign	Het
Cpsf3	T	C	12: 21,351,538 (GRCm39)	I353T	probably damaging	Het
Csf2rb	T	A	15: 78,230,667 (GRCm39)	V470E	probably benign	Het
Cyp4a10	C	A	4: 115,378,291 (GRCm39)	Q126K	probably benign	Het
Dennd1b	T	C	1: 139,013,652 (GRCm39)	S249P	probably damaging	Het
Dnase2a	A	G	8: 85,635,625 (GRCm39)		probably null	Het
Dpp10	T	C	1: 123,305,882 (GRCm39)	N490S	probably benign	Het
Drgx	A	T	14: 32,330,363 (GRCm39)	N160I	probably damaging	Het
Fancd2	T	C	6: 113,562,434 (GRCm39)	V1258A	probably benign	Het
Fancm	G	A	12: 65,153,666 (GRCm39)		probably null	Het
Fbxo16	C	T	14: 65,536,657 (GRCm39)	T177I	probably benign	Het
Gm1965	T	C	6: 89,123,525 (GRCm39)		noncoding transcript	Het
Hal	A	T	10: 93,339,401 (GRCm39)	M497L	probably damaging	Het
Hectd4	T	C	5: 121,497,378 (GRCm39)	L3936S	possibly damaging	Het
Hs3st4	G	T	7: 123,996,410 (GRCm39)	G359W	probably damaging	Het
Il6st	C	T	13: 112,639,399 (GRCm39)	P608L	probably damaging	Het
Kctd18	A	C	1: 58,004,707 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,940,309 (GRCm39)	S1636T	probably damaging	Het
Lrrn1	A	T	6: 107,545,311 (GRCm39)	S370C	probably damaging	Het
Mtcl1	A	C	17: 66,655,474 (GRCm39)	C968G	probably benign	Het
Mylip	G	A	13: 45,562,238 (GRCm39)	A347T	probably damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Ncoa4-ps	A	G	12: 119,226,252 (GRCm39)		noncoding transcript	Het
Neu4	T	A	1: 93,950,200 (GRCm39)	V53E	probably damaging	Het
Nxpe3	T	C	16: 55,680,687 (GRCm39)	I302V	probably benign	Het
Or11i1	A	T	3: 106,729,576 (GRCm39)	C100S	probably damaging	Het
Or4c15b	A	T	2: 89,112,811 (GRCm39)	L243Q	possibly damaging	Het
Otos	T	C	1: 92,572,090 (GRCm39)	T79A	probably damaging	Het
Pde4a	T	C	9: 21,122,009 (GRCm39)	I578T	probably damaging	Het
Pramel17	T	A	4: 101,692,729 (GRCm39)	M424L	probably benign	Het
Prex2	C	T	1: 11,240,164 (GRCm39)	P927S	probably damaging	Het
Prune2	A	T	19: 17,100,116 (GRCm39)	K1873N	probably benign	Het
Ptk7	C	A	17: 46,887,417 (GRCm39)		probably null	Het
Reln	T	A	5: 22,200,585 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,151,749 (GRCm39)		probably benign	Het
Rnf145	T	A	11: 44,448,063 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,724,849 (GRCm39)	E2488G	probably damaging	Het
Sgo2b	A	T	8: 64,379,664 (GRCm39)	M1056K	possibly damaging	Het
Snapc4	A	G	2: 26,259,245 (GRCm39)	V635A	probably benign	Het
Snx19	T	A	9: 30,348,763 (GRCm39)	Y101N	probably benign	Het
Sorl1	C	A	9: 41,925,746 (GRCm39)		probably null	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Speer4a2	A	T	5: 26,289,791 (GRCm39)	I212N	probably damaging	Het
Tmem30b	G	A	12: 73,592,488 (GRCm39)	P209L	probably damaging	Het
Trbv12-2	G	T	6: 41,096,081 (GRCm39)	C52F	probably damaging	Het
Tsc2	T	A	17: 24,819,343 (GRCm39)	D1304V	probably benign	Het
Ugt2b36	T	C	5: 87,214,183 (GRCm39)	Y487C	probably damaging	Het
Vmn1r10	T	A	6: 57,090,811 (GRCm39)	N134K	probably damaging	Het
Wdr27	C	A	17: 15,141,016 (GRCm39)		probably null	Het
Wdr75	T	C	1: 45,855,638 (GRCm39)	F430L	probably damaging	Het
Zfp629	A	G	7: 127,211,299 (GRCm39)	I170T	probably 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
R4324:Enc1	UTSW	13	97,382,405 (GRCm39)	missense	probably benign	0.21
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'- GCAACTTCCAAACCATTCGG -3'
(R):5'- TCACACATGAAAGTCTGCCCTC -3'

Sequencing Primer
(F):5'- GAACGAAGATTTCCTCCAGTTGC -3'
(R):5'- ATGAAAGTCTGCCCTCCCAGG -3'

Posted On

2016-04-15