Mutagenetix > Incidental Mutation

Incidental Mutation 'R5770:Nhlrc1'

446519

Institutional Source

Beutler Lab

Gene Symbol

Nhlrc1

Ensembl Gene

ENSMUSG00000044231

Gene Name

NHL repeat containing 1

Synonyms

Malin, EPM2B, B230309E09Rik

MMRRC Submission

043370-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R5770 (G1)

Quality Score

115

Status

Validated

Chromosome

Chromosomal Location

47166033-47168326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47168188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 23 (V23A)

Ref Sequence

ENSEMBL: ENSMUSP00000054990 (fasta)

Gene Model

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

AlphaFold

Q8BR37

Predicted Effect

probably benign
Transcript: ENSMUST00000052747
AA Change: V23A

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054990
Gene: ENSMUSG00000044231
AA Change: V23A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

93% (64/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	T	C	12: 20,865,460 (GRCm39)		noncoding transcript	Het
Abhd8	A	G	8: 71,909,972 (GRCm39)	V392A	probably benign	Het
Alpk3	A	G	7: 80,728,310 (GRCm39)	E480G	probably benign	Het
Ankfy1	C	G	11: 72,651,082 (GRCm39)	H1011D	probably damaging	Het
Aoc3	T	G	11: 101,222,578 (GRCm39)	Y271*	probably null	Het
Bcl9	T	C	3: 97,122,491 (GRCm39)	I103V	probably benign	Het
Cgnl1	C	T	9: 71,552,769 (GRCm39)		probably null	Het
Cyp2c23	T	A	19: 44,010,018 (GRCm39)	D109V	probably damaging	Het
Cyp2j13	A	T	4: 95,965,669 (GRCm39)	W13R	probably benign	Het
D630003M21Rik	T	C	2: 158,037,500 (GRCm39)		probably benign	Het
Desi2	A	T	1: 178,084,061 (GRCm39)		probably benign	Het
Dll3	T	C	7: 27,998,434 (GRCm39)	E177G	possibly damaging	Het
Ern2	C	T	7: 121,779,130 (GRCm39)	G238D	possibly damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm6133	A	G	18: 78,393,464 (GRCm39)	K153E	probably benign	Het
Gpr68	A	T	12: 100,845,080 (GRCm39)	Y155N	probably benign	Het
Hcrtr2	T	A	9: 76,166,948 (GRCm39)	I130F	probably damaging	Het
Hk1	T	C	10: 62,122,228 (GRCm39)	K489R	probably benign	Het
Ints13	T	C	6: 146,456,571 (GRCm39)	N425S	probably damaging	Het
Itpkc	T	C	7: 26,912,413 (GRCm39)	D578G	probably damaging	Het
Kcns3	A	G	12: 11,142,250 (GRCm39)	S150P	probably benign	Het
Khdrbs3	T	A	15: 68,921,312 (GRCm39)		probably null	Het
Kif11	A	G	19: 37,379,313 (GRCm39)	I335V	probably benign	Het
Lrrn4	C	G	2: 132,714,076 (GRCm39)	C290S	probably damaging	Het
Macrod2	T	C	2: 141,074,102 (GRCm39)		probably benign	Het
Mgam	A	G	6: 40,646,738 (GRCm39)	N688S	probably benign	Het
Myh8	G	A	11: 67,188,026 (GRCm39)	E933K	probably damaging	Het
Nat8f5	T	C	6: 85,794,657 (GRCm39)	Y101C	probably damaging	Het
Nkx2-3	T	A	19: 43,602,972 (GRCm39)	F193I	probably damaging	Het
Nlrp4b	T	A	7: 10,449,414 (GRCm39)	V172E	probably benign	Het
Nmrk1	G	T	19: 18,622,438 (GRCm39)	R172S	probably benign	Het
Nudcd3	T	C	11: 6,063,286 (GRCm39)	D201G	probably damaging	Het
Oprm1	G	A	10: 6,739,026 (GRCm39)	G51D	probably damaging	Het
Or10g9b	C	T	9: 39,917,634 (GRCm39)	V204I	probably benign	Het
Or13a18	A	G	7: 140,190,856 (GRCm39)	Y259C	probably damaging	Het
Or2t44	G	A	11: 58,677,420 (GRCm39)	R120H	probably benign	Het
Or2y14	A	G	11: 49,405,419 (GRCm39)	E318G	unknown	Het
Or4c12b	T	A	2: 89,646,893 (GRCm39)	D68E	probably damaging	Het
Or56a3	A	T	7: 104,740,102 (GRCm39)	I248N	probably damaging	Het
Or5ac23	A	T	16: 59,149,514 (GRCm39)	Y119*	probably null	Het
Pcdh15	T	A	10: 74,021,177 (GRCm39)	Y130*	probably null	Het
Pcdh9	G	A	14: 94,124,379 (GRCm39)	T597I	probably damaging	Het
Pcdhb19	A	G	18: 37,631,090 (GRCm39)	N295S	possibly damaging	Het
Pcnx3	T	C	19: 5,731,607 (GRCm39)		probably benign	Het
Pdzph1	A	T	17: 59,186,146 (GRCm39)	I1215N	probably damaging	Het
Phf21a	C	T	2: 92,182,199 (GRCm39)	T405I	possibly damaging	Het
Pkd1l2	C	A	8: 117,781,757 (GRCm39)	G763W	probably damaging	Het
Prox2	A	G	12: 85,134,154 (GRCm39)	F591L	probably benign	Het
Robo3	T	A	9: 37,330,497 (GRCm39)	H1033L	possibly damaging	Het
Sdha	A	T	13: 74,471,239 (GRCm39)	C222*	probably null	Het
Sec16a	T	C	2: 26,304,402 (GRCm39)	D2303G	probably damaging	Het
Shoc1	T	C	4: 59,092,466 (GRCm39)	I238M	probably benign	Het
Slc16a5	A	G	11: 115,363,604 (GRCm39)	K422E	possibly damaging	Het
Slc22a30	A	T	19: 8,363,891 (GRCm39)	M232K	probably damaging	Het
Slc35b3	A	T	13: 39,121,734 (GRCm39)	F300I	probably damaging	Het
Spata2l	A	G	8: 123,962,459 (GRCm39)	V34A	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tecta	T	A	9: 42,256,885 (GRCm39)	Q1597L	possibly damaging	Het
Tgfb1i1	A	T	7: 127,847,719 (GRCm39)		probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Tpm3-rs7	A	G	14: 113,552,807 (GRCm39)	T234A	probably benign	Het
Usp20	A	G	2: 30,907,520 (GRCm39)	Y684C	probably damaging	Het
Zc3h4	T	A	7: 16,163,536 (GRCm39)	M585K	unknown	Het
Zfp292	A	G	4: 34,806,747 (GRCm39)	I2099T	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
R6476:Nhlrc1	UTSW	13	47,167,657 (GRCm39)	missense	possibly damaging	0.95
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'- TCAAAGATCTTGACCCGTCTC -3'
(R):5'- CGTGACGTGATTATCCCAGG -3'

Sequencing Primer
(F):5'- AATCGCTGGTGTCACAGG -3'
(R):5'- GACGTGATTATCCCAGGTCTGC -3'

Posted On

2016-11-21