Incidental Mutation 'IGL01542:Nhlrc1'
| ID |
90188 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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)
|
| Stock # |
IGL01542
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
47166033-47168326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47167607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 217
(F217I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052747]
|
| AlphaFold |
Q8BR37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052747
AA Change: F217I
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000054990
Gene: ENSMUSG00000044231
AA Change: F217I
| 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 |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,187 (GRCm39) |
M316V |
probably benign |
Het |
| Chd7 |
T |
G |
4: 8,859,285 (GRCm39) |
N2458K |
possibly damaging |
Het |
| Clock |
T |
C |
5: 76,379,322 (GRCm39) |
E538G |
possibly damaging |
Het |
| Clpb |
G |
A |
7: 101,436,712 (GRCm39) |
V596I |
probably damaging |
Het |
| Col9a3 |
T |
C |
2: 180,251,109 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
G |
A |
13: 25,060,020 (GRCm39) |
|
probably null |
Het |
| Drd4 |
T |
C |
7: 140,873,744 (GRCm39) |
|
probably benign |
Het |
| Fam228b |
A |
T |
12: 4,813,055 (GRCm39) |
I105N |
probably damaging |
Het |
| Gm20939 |
A |
T |
17: 95,181,721 (GRCm39) |
|
probably benign |
Het |
| Gm4952 |
A |
G |
19: 12,595,771 (GRCm39) |
T54A |
possibly damaging |
Het |
| Hbs1l |
T |
C |
10: 21,183,655 (GRCm39) |
V132A |
probably benign |
Het |
| Kpna2 |
T |
A |
11: 106,882,027 (GRCm39) |
E266D |
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,347,892 (GRCm39) |
E977G |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,721,392 (GRCm39) |
T142A |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,800,372 (GRCm39) |
L919P |
probably damaging |
Het |
| Or10q12 |
T |
C |
19: 13,745,901 (GRCm39) |
F65S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,639,070 (GRCm39) |
I468V |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,470,496 (GRCm39) |
|
probably null |
Het |
| Sctr |
A |
G |
1: 119,972,499 (GRCm39) |
|
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,700,278 (GRCm39) |
V126A |
probably benign |
Het |
| Smad3 |
C |
T |
9: 63,562,868 (GRCm39) |
R214Q |
probably damaging |
Het |
| Spmip3 |
A |
G |
1: 177,570,950 (GRCm39) |
T95A |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,013,423 (GRCm39) |
M1219T |
possibly damaging |
Het |
| Tmem167b |
A |
T |
3: 108,466,222 (GRCm39) |
N75K |
possibly damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,314,846 (GRCm39) |
S365P |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,280,314 (GRCm39) |
F153L |
probably damaging |
Het |
|
| Other mutations in Nhlrc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-12-03 |
Incidental Mutation