Incidental Mutation 'IGL01640:Nhlrc3'
| ID |
93119 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nhlrc3
|
| Ensembl Gene |
ENSMUSG00000042997 |
| Gene Name |
NHL repeat containing 3 |
| Synonyms |
8030451K01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01640
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
53359417-53370679 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 53360958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056749]
[ENSMUST00000130348]
|
| AlphaFold |
Q8CCH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056749
|
| SMART Domains |
Protein: ENSMUSP00000055295
Gene: ENSMUSG00000042997
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:NHL
|
213 |
240 |
1.7e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130348
|
| SMART Domains |
Protein: ENSMUSP00000114215
Gene: ENSMUSG00000042997
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132485
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing NCL-1, HT2A and Lin-41 (NHL) family repeats. Mammalian NHL-repeat containing proteins may be involved in a variety of enzymatic processes, including protein modification through ubiquitination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,587 (GRCm39) |
T3A |
probably damaging |
Het |
| 4933402N03Rik |
A |
T |
7: 130,740,848 (GRCm39) |
S123T |
possibly damaging |
Het |
| Adamts17 |
A |
T |
7: 66,679,428 (GRCm39) |
T559S |
probably damaging |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Arel1 |
G |
A |
12: 84,967,475 (GRCm39) |
T783M |
probably damaging |
Het |
| B3gntl1 |
C |
T |
11: 121,563,846 (GRCm39) |
E5K |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,697,600 (GRCm39) |
F309I |
probably damaging |
Het |
| Fhod3 |
T |
G |
18: 25,248,850 (GRCm39) |
M1343R |
probably benign |
Het |
| Fnbp1 |
A |
G |
2: 30,995,303 (GRCm39) |
F44L |
probably damaging |
Het |
| Gm3633 |
A |
T |
14: 42,460,324 (GRCm39) |
Y206* |
probably null |
Het |
| Gprc6a |
A |
C |
10: 51,503,180 (GRCm39) |
F228V |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,668,292 (GRCm39) |
I453V |
possibly damaging |
Het |
| Kif2a |
A |
G |
13: 107,111,060 (GRCm39) |
I529T |
probably damaging |
Het |
| Lrrc19 |
C |
T |
4: 94,526,745 (GRCm39) |
V271I |
probably damaging |
Het |
| Ncaph2 |
A |
G |
15: 89,248,041 (GRCm39) |
|
probably null |
Het |
| Nek5 |
A |
G |
8: 22,610,856 (GRCm39) |
I49T |
probably benign |
Het |
| Or51ac3 |
A |
G |
7: 103,214,228 (GRCm39) |
V86A |
probably damaging |
Het |
| Or52n20 |
A |
T |
7: 104,320,871 (GRCm39) |
S321C |
probably damaging |
Het |
| Or8g28 |
C |
A |
9: 39,169,559 (GRCm39) |
M136I |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,528,297 (GRCm39) |
T1308A |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,188,513 (GRCm39) |
N448S |
probably benign |
Het |
| Pole |
T |
A |
5: 110,446,132 (GRCm39) |
L571Q |
probably null |
Het |
| Rufy1 |
A |
G |
11: 50,281,205 (GRCm39) |
|
probably benign |
Het |
| Sftpd |
C |
A |
14: 40,894,592 (GRCm39) |
A276S |
probably benign |
Het |
| Slc35f4 |
A |
C |
14: 49,556,225 (GRCm39) |
V176G |
probably damaging |
Het |
| Snrpb |
T |
C |
2: 130,017,251 (GRCm39) |
D89G |
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,790,035 (GRCm39) |
V577D |
probably benign |
Het |
| Synrg |
A |
C |
11: 83,872,334 (GRCm39) |
S152R |
probably damaging |
Het |
| Trgv7 |
T |
C |
13: 19,362,260 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,876,645 (GRCm39) |
E682G |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,718,744 (GRCm39) |
I2989T |
probably benign |
Het |
| Vmn1r116 |
A |
G |
7: 20,606,373 (GRCm39) |
T65A |
probably benign |
Het |
| Zfp469 |
G |
A |
8: 122,998,009 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nhlrc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03113:Nhlrc3
|
APN |
3 |
53,365,984 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
PIT1430001:Nhlrc3
|
UTSW |
3 |
53,361,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0486:Nhlrc3
|
UTSW |
3 |
53,359,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Nhlrc3
|
UTSW |
3 |
53,366,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0783:Nhlrc3
|
UTSW |
3 |
53,369,870 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1423:Nhlrc3
|
UTSW |
3 |
53,369,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1606:Nhlrc3
|
UTSW |
3 |
53,366,078 (GRCm39) |
nonsense |
probably null |
|
|
R2105:Nhlrc3
|
UTSW |
3 |
53,361,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Nhlrc3
|
UTSW |
3 |
53,363,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3802:Nhlrc3
|
UTSW |
3 |
53,366,052 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3804:Nhlrc3
|
UTSW |
3 |
53,366,052 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4656:Nhlrc3
|
UTSW |
3 |
53,370,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4780:Nhlrc3
|
UTSW |
3 |
53,365,988 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5608:Nhlrc3
|
UTSW |
3 |
53,369,732 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6298:Nhlrc3
|
UTSW |
3 |
53,359,944 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6810:Nhlrc3
|
UTSW |
3 |
53,360,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7899:Nhlrc3
|
UTSW |
3 |
53,369,080 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7975:Nhlrc3
|
UTSW |
3 |
53,360,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Nhlrc3
|
UTSW |
3 |
53,360,992 (GRCm39) |
nonsense |
probably null |
|
|
R9375:Nhlrc3
|
UTSW |
3 |
53,369,190 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9385:Nhlrc3
|
UTSW |
3 |
53,361,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-12-09 |
Incidental Mutation