Mutagenetix > Incidental Mutation

Incidental Mutation 'R6476:Nhlrc1'

516807

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc1

Ensembl Gene

ENSMUSG00000044231

Gene Name

NHL repeat containing 1

Synonyms

Malin, EPM2B, B230309E09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R6476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47166033-47168326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47167657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 200 (L200P)

Ref Sequence

ENSEMBL: ENSMUSP00000054990 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052747]

AlphaFold

Q8BR37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052747
AA Change: L200P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054990
Gene: ENSMUSG00000044231
AA Change: L200P

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
RING	28	73	1.45e-6	SMART
low complexity region	89	99	N/A	INTRINSIC
low complexity region	101	113	N/A	INTRINSIC
internal_repeat_1	128	245	5.99e-5	PROSPERO
internal_repeat_1	263	394	5.99e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000060680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225443

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit accumulation of Lafora bodies and total glycogen levels in the heart muscle, skeletal muscle, and brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	T	C	2: 154,892,699 (GRCm39)	V126A	probably benign	Het
Adamts20	T	C	15: 94,259,691 (GRCm39)	Q336R	probably benign	Het
Ankrd36	A	G	11: 5,578,753 (GRCm39)	T6A	probably benign	Het
Arhgap33	A	G	7: 30,223,837 (GRCm39)	S731P	probably damaging	Het
Arhgef10l	G	C	4: 140,338,693 (GRCm39)	P23R	probably damaging	Het
Atf7	T	C	15: 102,502,147 (GRCm39)	D3G	probably benign	Het
Caps2	A	G	10: 112,011,465 (GRCm39)	T30A	possibly damaging	Het
Ccdc15	A	T	9: 37,253,715 (GRCm39)	I191N	probably benign	Het
Cep170	A	T	1: 176,607,917 (GRCm39)	S180T	possibly damaging	Het
Chd1	G	A	17: 17,601,250 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,709,534 (GRCm39)	N1887K	unknown	Het
Csgalnact1	C	T	8: 68,913,761 (GRCm39)	S148N	probably damaging	Het
Csgalnact1	T	A	8: 68,913,762 (GRCm39)	S148C	probably damaging	Het
Dnah14	A	G	1: 181,572,333 (GRCm39)	E2888G	probably benign	Het
Dnah7b	T	A	1: 46,281,364 (GRCm39)	Y2808*	probably null	Het
Dock10	A	C	1: 80,518,959 (GRCm39)	L1254*	probably null	Het
Eml2	T	C	7: 18,930,236 (GRCm39)	V511A	probably benign	Het
Eml6	A	G	11: 29,741,971 (GRCm39)		probably null	Het
Erbin	C	A	13: 103,977,755 (GRCm39)	D601Y	probably damaging	Het
Farsa	A	G	8: 85,583,809 (GRCm39)	E49G	probably damaging	Het
Fzd7	A	G	1: 59,523,154 (GRCm39)	M346V	probably damaging	Het
Gatd3a	T	C	10: 78,003,347 (GRCm39)	N102D	probably damaging	Het
Glg1	A	C	8: 111,926,806 (GRCm39)	S170A	possibly damaging	Het
Gpx3	A	T	11: 54,798,025 (GRCm39)	I54F	probably damaging	Het
H6pd	G	A	4: 150,067,184 (GRCm39)	H401Y	probably damaging	Het
Hspb8	A	G	5: 116,560,457 (GRCm39)	S28P	probably damaging	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Krt9	A	T	11: 100,081,640 (GRCm39)	D296E	probably damaging	Het
Lcor	C	T	19: 41,571,518 (GRCm39)	T237I	probably benign	Het
Lnx1	A	G	5: 74,768,541 (GRCm39)	V349A	possibly damaging	Het
Map3k6	A	T	4: 132,977,397 (GRCm39)	S915C	probably damaging	Het
Mecom	C	A	3: 30,034,717 (GRCm39)	A510S	possibly damaging	Het
Mettl14	A	G	3: 123,167,686 (GRCm39)	I224T	probably damaging	Het
Mme	T	C	3: 63,251,056 (GRCm39)		probably null	Het
Nbea	T	A	3: 55,912,227 (GRCm39)	T1187S	probably benign	Het
Ndor1	T	C	2: 25,138,154 (GRCm39)	T444A	possibly damaging	Het
Npc1	G	T	18: 12,334,751 (GRCm39)	S667*	probably null	Het
Nscme3l	A	C	19: 5,553,253 (GRCm39)	I176S	probably damaging	Het
Or14a256	C	T	7: 86,265,218 (GRCm39)	V212I	probably benign	Het
Or1l8	T	A	2: 36,817,595 (GRCm39)	H177L	possibly damaging	Het
Or4c109	T	A	2: 88,817,721 (GRCm39)	D275V	probably benign	Het
Or51d1	T	A	7: 102,348,310 (GRCm39)	N288K	possibly damaging	Het
Or5g9	T	A	2: 85,551,928 (GRCm39)	Y60N	probably damaging	Het
Pds5a	A	C	5: 65,791,630 (GRCm39)	I773R	possibly damaging	Het
Pgr	T	A	9: 8,964,839 (GRCm39)		probably null	Het
Plscr4	A	T	9: 92,372,819 (GRCm39)	M314L	probably benign	Het
Polr2m	A	G	9: 71,390,752 (GRCm39)	V46A	probably benign	Het
Ptk2b	T	A	14: 66,424,923 (GRCm39)	M174L	possibly damaging	Het
Sec31a	A	T	5: 100,534,008 (GRCm39)	F521I	probably benign	Het
Serpinb3d	T	C	1: 107,011,071 (GRCm39)	N47S	probably benign	Het
Shld2	T	C	14: 33,989,971 (GRCm39)	S312G	probably benign	Het
Slc24a3	T	A	2: 145,448,750 (GRCm39)	D431E	probably benign	Het
Slc34a1	C	A	13: 23,996,569 (GRCm39)	H25N	probably damaging	Het
Slc9a9	T	C	9: 94,567,191 (GRCm39)	F87L	probably benign	Het
Spata31	T	A	13: 65,065,456 (GRCm39)	S54T	possibly damaging	Het
Spata6	T	C	4: 111,632,020 (GRCm39)	S144P	probably damaging	Het
Sppl2c	A	G	11: 104,077,595 (GRCm39)	N132D	probably benign	Het
Ssu2	C	T	6: 112,351,793 (GRCm39)	G311S	probably damaging	Het
Syne1	T	A	10: 5,104,531 (GRCm39)	Q6328L	possibly damaging	Het
Tie1	T	C	4: 118,330,062 (GRCm39)	T1054A	possibly damaging	Het
Tnfaip6	T	G	2: 51,942,328 (GRCm39)	D212E	probably benign	Het
Tnxb	A	G	17: 34,909,166 (GRCm39)	T1442A	probably damaging	Het
Trim35	C	T	14: 66,546,244 (GRCm39)	T337M	probably damaging	Het
Vipr1	T	C	9: 121,498,489 (GRCm39)	V413A	probably benign	Het
Vmn1r19	C	G	6: 57,381,578 (GRCm39)	Q44E	probably damaging	Het
Zfp1002	T	C	2: 150,097,246 (GRCm39)	D61G	probably benign	Het
Zfp266	G	T	9: 20,410,577 (GRCm39)	H533Q	probably damaging	Het
Zfp689	T	C	7: 127,043,896 (GRCm39)	S245G	probably damaging	Het

Other mutations in Nhlrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01542:Nhlrc1	APN	13	47,167,607 (GRCm39)	missense	probably damaging	0.97
IGL01759:Nhlrc1	APN	13	47,167,438 (GRCm39)	missense	probably benign	0.00
R1540:Nhlrc1	UTSW	13	47,167,820 (GRCm39)	missense	probably damaging	1.00
R2116:Nhlrc1	UTSW	13	47,167,661 (GRCm39)	missense	probably benign	0.00
R4243:Nhlrc1	UTSW	13	47,167,502 (GRCm39)	missense	probably benign	0.06
R4563:Nhlrc1	UTSW	13	47,167,666 (GRCm39)	missense	possibly damaging	0.67
R4975:Nhlrc1	UTSW	13	47,167,216 (GRCm39)	missense	probably benign	0.28
R5100:Nhlrc1	UTSW	13	47,167,897 (GRCm39)	missense	probably benign
R5671:Nhlrc1	UTSW	13	47,167,193 (GRCm39)	missense	probably benign	0.06
R5770:Nhlrc1	UTSW	13	47,168,188 (GRCm39)	missense	probably benign	0.22
R6886:Nhlrc1	UTSW	13	47,167,252 (GRCm39)	missense	possibly damaging	0.94
R7223:Nhlrc1	UTSW	13	47,167,684 (GRCm39)	missense	probably benign	0.27
R8807:Nhlrc1	UTSW	13	47,167,990 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCTTGCAACCTCTCAATCC -3'
(R):5'- CAAGGTGTGCTTCGAGAGGTTC -3'

Sequencing Primer
(F):5'- TTGCAACCTCTCAATCCTCCGAAG -3'
(R):5'- TGTGACACCAGCGATTGC -3'

Posted On

2018-05-21