Mutagenetix > Incidental Mutation

Incidental Mutation 'R9329:Enc1'

706750

Institutional Source

Beutler Lab

Gene Symbol

Enc1

Ensembl Gene

ENSMUSG00000041773

Gene Name

ectodermal-neural cortex 1

Synonyms

PIG10, Nrpb

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97377613-97389542 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 97383018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 509 (Y509*)

Ref Sequence

ENSEMBL: ENSMUSP00000038783 (fasta)

Gene Model

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

AlphaFold

O35709

Predicted Effect

probably null
Transcript: ENSMUST00000041623
AA Change: Y509*

SMART Domains

Protein: ENSMUSP00000038783
Gene: ENSMUSG00000041773
AA Change: Y509*

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

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (73/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	G	6: 83,133,556 (GRCm39)	M1R	probably null	Het
Acap2	T	C	16: 30,946,238 (GRCm39)	D235G	probably damaging	Het
Adgrv1	C	A	13: 81,647,241 (GRCm39)	V3100F	probably damaging	Het
Aff4	A	G	11: 53,288,686 (GRCm39)	T401A	probably damaging	Het
Apcs	T	C	1: 172,722,391 (GRCm39)	T22A	probably benign	Het
Atf7ip2	T	C	16: 10,059,738 (GRCm39)	V426A	possibly damaging	Het
Bach2	A	G	4: 32,562,175 (GRCm39)	D214G	possibly damaging	Het
Baz2a	C	T	10: 127,960,925 (GRCm39)	A1578V	possibly damaging	Het
Camk1d	T	C	2: 5,449,954 (GRCm39)	I76V	probably benign	Het
Ccdc182	A	T	11: 88,185,324 (GRCm39)	M135L	probably benign	Het
Cd47	C	T	16: 49,716,731 (GRCm39)	T201I		Het
Chodl	T	C	16: 78,746,030 (GRCm39)	S290P	possibly damaging	Het
Chst15	A	G	7: 131,868,520 (GRCm39)	L300P	possibly damaging	Het
Ciita	T	C	16: 10,324,571 (GRCm39)	S168P	probably damaging	Het
Cntn2	C	T	1: 132,456,678 (GRCm39)	V123I	probably benign	Het
Cyld	T	A	8: 89,457,348 (GRCm39)	L527Q	probably benign	Het
Dbn1	T	A	13: 55,631,241 (GRCm39)	Y34F	probably damaging	Het
Ermard	A	T	17: 15,273,643 (GRCm39)	E409D	probably benign	Het
Extl3	T	C	14: 65,314,765 (GRCm39)	E139G	possibly damaging	Het
Fa2h	A	T	8: 112,082,115 (GRCm39)	V177E	possibly damaging	Het
Flot2	T	C	11: 77,949,772 (GRCm39)	I367T	probably damaging	Het
Fras1	T	C	5: 96,884,813 (GRCm39)	Y2564H	probably damaging	Het
Fxyd3	A	G	7: 30,773,018 (GRCm39)	V10A	probably benign	Het
Gfra3	A	G	18: 34,837,560 (GRCm39)	L146P	probably damaging	Het
Gm49359	T	C	13: 62,602,448 (GRCm39)	N251D	probably benign	Het
Hps6	A	G	19: 45,992,542 (GRCm39)	S160G	probably benign	Het
Hsd17b7	C	A	1: 169,794,875 (GRCm39)	A55S	probably damaging	Het
Hspa12a	T	C	19: 58,789,298 (GRCm39)	D446G	probably benign	Het
Htt	G	A	5: 34,989,957 (GRCm39)	R1163Q	possibly damaging	Het
Ift81	T	C	5: 122,697,833 (GRCm39)		probably null	Het
Ighv5-15	T	G	12: 113,790,395 (GRCm39)	Y75S	probably benign	Het
Kcnd2	T	A	6: 21,725,981 (GRCm39)	H491Q	probably damaging	Het
Lamb3	C	A	1: 193,014,665 (GRCm39)	T608K	probably benign	Het
Lrtm2	T	A	6: 119,297,412 (GRCm39)	K210*	probably null	Het
Med13	G	T	11: 86,189,283 (GRCm39)	P1209T	probably benign	Het
Mtus1	G	A	8: 41,537,239 (GRCm39)	T159I	probably damaging	Het
Myt1l	A	G	12: 29,901,659 (GRCm39)	M805V	unknown	Het
Neb	G	T	2: 52,160,231 (GRCm39)	L2261I	probably benign	Het
Nlrp4c	G	A	7: 6,068,498 (GRCm39)	R133H	probably benign	Het
Nol11	A	T	11: 107,071,765 (GRCm39)	L276Q	probably damaging	Het
Nrap	A	G	19: 56,350,277 (GRCm39)	Y614H	probably damaging	Het
Or13c9	G	A	4: 52,936,211 (GRCm39)	T24M	probably damaging	Het
Or52p1	A	G	7: 104,267,705 (GRCm39)	H273R	probably damaging	Het
Pou2f3	A	G	9: 43,040,224 (GRCm39)	S355P	probably damaging	Het
Ppm1l	C	A	3: 69,460,453 (GRCm39)	N343K	probably damaging	Het
Prh1	A	T	6: 132,548,573 (GRCm39)	I27F	unknown	Het
Prkrip1	A	T	5: 136,223,203 (GRCm39)	L85Q	probably damaging	Het
Pycr3	C	T	15: 75,790,563 (GRCm39)	V99I	probably benign	Het
R3hdm4	T	A	10: 79,749,393 (GRCm39)	N72I	probably damaging	Het
Rab11fip3	G	T	17: 26,231,032 (GRCm39)	H738N	probably benign	Het
Rtl1	G	A	12: 109,556,673 (GRCm39)	A1722V	possibly damaging	Het
Sell	A	G	1: 163,893,122 (GRCm39)	N113D	probably damaging	Het
Smarcal1	T	C	1: 72,665,697 (GRCm39)	S732P	probably damaging	Het
Smurf2	A	T	11: 106,743,424 (GRCm39)	D207E	probably benign	Het
Spata31h1	G	A	10: 82,121,439 (GRCm39)	S3857L	probably benign	Het
Tat	C	T	8: 110,723,510 (GRCm39)	R333C	probably benign	Het
Tmem121b	A	T	6: 120,469,234 (GRCm39)	F494L	probably damaging	Het
Tmem198	C	A	1: 75,456,522 (GRCm39)	P89Q	probably damaging	Het
Tnks2	T	G	19: 36,835,284 (GRCm39)	C2G	probably damaging	Het
Trappc9	T	C	15: 72,673,202 (GRCm39)	E869G	unknown	Het
Trim42	T	A	9: 97,251,584 (GRCm39)	K105M	probably benign	Het
Ttll3	T	C	6: 113,369,635 (GRCm39)	S60P	probably benign	Het
Ttll4	T	A	1: 74,725,121 (GRCm39)	I625N	possibly damaging	Het
Tubgcp5	T	A	7: 55,479,181 (GRCm39)		probably null	Het
Txlnb	A	T	10: 17,682,594 (GRCm39)	Y172F	probably damaging	Het
Ube2e3	A	T	2: 78,744,035 (GRCm39)	D88V	possibly damaging	Het
Vmn1r189	T	A	13: 22,286,430 (GRCm39)	I136L	probably benign	Het
Vmn2r71	A	G	7: 85,267,950 (GRCm39)	I135V	probably benign	Het
Vmn2r73	T	A	7: 85,519,073 (GRCm39)	R516S	probably benign	Het
Wrn	C	T	8: 33,731,006 (GRCm39)	E1352K	probably benign	Het
Zfp318	T	C	17: 46,722,139 (GRCm39)	S1381P	probably damaging	Het
Zfp747	A	T	7: 126,973,655 (GRCm39)	Y172N	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
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

Predicted Primers

PCR Primer
(F):5'- ATGCTGCTGTAGTGAGTGCC -3'
(R):5'- GGTTATGCTGTTCCACACATC -3'

Sequencing Primer
(F):5'- CTGTAGTGAGTGCCAAACTTAAGCTG -3'
(R):5'- GTTCCACACATCTAAAGTTGGGTCG -3'

Posted On

2022-04-18