Incidental Mutation 'IGL01653:Nhlrc2'
| ID |
102887 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nhlrc2
|
| Ensembl Gene |
ENSMUSG00000025078 |
| Gene Name |
NHL repeat containing 2 |
| Synonyms |
1200003G01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
56536693-56591935 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 56559282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 256
(R256C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071423]
|
| AlphaFold |
Q8BZW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071423
AA Change: R256C
PolyPhen 2
Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: R256C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin_8
|
78 |
174 |
2.7e-14 |
PFAM |
|
LY
|
216 |
258 |
8.44e0 |
SMART |
|
Pfam:NHL
|
278 |
304 |
2.3e-9 |
PFAM |
|
low complexity region
|
321 |
331 |
N/A |
INTRINSIC |
|
Blast:LY
|
402 |
446 |
5e-8 |
BLAST |
|
LY
|
467 |
509 |
1.91e0 |
SMART |
|
Pfam:NHL
|
530 |
558 |
1.2e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,096,398 (GRCm39) |
D119G |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,500 (GRCm39) |
C149R |
probably damaging |
Het |
| Arfgef1 |
G |
A |
1: 10,230,133 (GRCm39) |
R1235* |
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,786,703 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,986,043 (GRCm39) |
H1682Q |
possibly damaging |
Het |
| Cerk |
G |
T |
15: 86,033,552 (GRCm39) |
Y290* |
probably null |
Het |
| Cyld |
A |
T |
8: 89,467,998 (GRCm39) |
I544F |
probably damaging |
Het |
| Dcp1a |
T |
C |
14: 30,227,528 (GRCm39) |
S134P |
possibly damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,364,003 (GRCm39) |
|
probably benign |
Het |
| Fcgr3 |
A |
T |
1: 170,886,849 (GRCm39) |
L25Q |
probably damaging |
Het |
| Heatr3 |
A |
G |
8: 88,871,245 (GRCm39) |
I83V |
probably benign |
Het |
| Hormad1 |
T |
A |
3: 95,485,608 (GRCm39) |
N265K |
possibly damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,562 (GRCm39) |
T201A |
probably benign |
Het |
| Krt6b |
T |
A |
15: 101,587,549 (GRCm39) |
T182S |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,414,088 (GRCm39) |
K755E |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,169,314 (GRCm39) |
T1568M |
probably damaging |
Het |
| Muc4 |
G |
T |
16: 32,581,722 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,960,770 (GRCm39) |
S1028P |
unknown |
Het |
| Or4c123 |
T |
A |
2: 89,127,471 (GRCm39) |
T48S |
probably benign |
Het |
| Or5a3 |
G |
A |
19: 12,399,736 (GRCm39) |
R21H |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 108,828,202 (GRCm39) |
R79H |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,315,904 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
T |
4: 144,000,429 (GRCm39) |
R49H |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,304,079 (GRCm39) |
S613T |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,778,022 (GRCm39) |
E2158G |
probably damaging |
Het |
| Scgb2b19 |
T |
A |
7: 32,979,153 (GRCm39) |
Y43F |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,317,770 (GRCm39) |
T468A |
possibly damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,119,147 (GRCm39) |
D374G |
possibly damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,022,543 (GRCm39) |
D601G |
probably damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,825,182 (GRCm39) |
Y89* |
probably null |
Het |
|
| Other mutations in Nhlrc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01307:Nhlrc2
|
APN |
19 |
56,540,231 (GRCm39) |
nonsense |
probably null |
|
|
IGL01524:Nhlrc2
|
APN |
19 |
56,564,587 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01570:Nhlrc2
|
APN |
19 |
56,563,219 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02256:Nhlrc2
|
APN |
19 |
56,585,793 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02303:Nhlrc2
|
APN |
19 |
56,563,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02349:Nhlrc2
|
APN |
19 |
56,580,151 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02501:Nhlrc2
|
APN |
19 |
56,559,086 (GRCm39) |
nonsense |
probably null |
|
|
R0270:Nhlrc2
|
UTSW |
19 |
56,540,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:Nhlrc2
|
UTSW |
19 |
56,558,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Nhlrc2
|
UTSW |
19 |
56,585,710 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3854:Nhlrc2
|
UTSW |
19 |
56,576,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3855:Nhlrc2
|
UTSW |
19 |
56,576,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3856:Nhlrc2
|
UTSW |
19 |
56,576,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4659:Nhlrc2
|
UTSW |
19 |
56,564,699 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4767:Nhlrc2
|
UTSW |
19 |
56,558,898 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4992:Nhlrc2
|
UTSW |
19 |
56,558,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5877:Nhlrc2
|
UTSW |
19 |
56,559,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Nhlrc2
|
UTSW |
19 |
56,559,291 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6755:Nhlrc2
|
UTSW |
19 |
56,580,216 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7164:Nhlrc2
|
UTSW |
19 |
56,580,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7507:Nhlrc2
|
UTSW |
19 |
56,585,810 (GRCm39) |
missense |
not run |
|
|
R7609:Nhlrc2
|
UTSW |
19 |
56,583,328 (GRCm39) |
missense |
probably benign |
|
|
R8811:Nhlrc2
|
UTSW |
19 |
56,583,344 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8849:Nhlrc2
|
UTSW |
19 |
56,580,184 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2014-01-21 |
Incidental Mutation