Incidental Mutation 'IGL01570:Nhlrc2'
| ID |
91106 |
| 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 # |
IGL01570
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
56536693-56591935 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56563219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 273
(F273I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071423]
|
| AlphaFold |
Q8BZW8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071423
AA Change: F273I
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: F273I
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,378,748 (GRCm39) |
S54P |
probably damaging |
Het |
| Adam5 |
A |
G |
8: 25,300,839 (GRCm39) |
V230A |
probably damaging |
Het |
| Arid4b |
T |
A |
13: 14,361,394 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
T |
G |
2: 155,809,583 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,014,540 (GRCm39) |
D955V |
probably damaging |
Het |
| Gm7676 |
A |
G |
8: 13,946,311 (GRCm39) |
|
noncoding transcript |
Het |
| Hao1 |
A |
G |
2: 134,396,120 (GRCm39) |
S45P |
probably damaging |
Het |
| Hars2 |
A |
T |
18: 36,920,645 (GRCm39) |
I163L |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,372,809 (GRCm39) |
Y1510C |
possibly damaging |
Het |
| Itga4 |
G |
A |
2: 79,152,978 (GRCm39) |
|
probably null |
Het |
| Kif18b |
G |
A |
11: 102,803,217 (GRCm39) |
H498Y |
probably benign |
Het |
| Kin |
C |
T |
2: 10,096,763 (GRCm39) |
T204M |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,139,807 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,840,807 (GRCm39) |
T1009I |
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 140,103,032 (GRCm39) |
S489P |
probably benign |
Het |
| Memo1 |
A |
G |
17: 74,524,103 (GRCm39) |
|
probably benign |
Het |
| Myocd |
T |
A |
11: 65,091,633 (GRCm39) |
H103L |
probably benign |
Het |
| Or10g7 |
T |
C |
9: 39,905,625 (GRCm39) |
I173T |
probably damaging |
Het |
| Or1e26 |
C |
A |
11: 73,480,209 (GRCm39) |
M118I |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,480 (GRCm39) |
T160S |
probably benign |
Het |
| Pappa2 |
A |
C |
1: 158,642,110 (GRCm39) |
Y1315* |
probably null |
Het |
| Pdzk1ip1 |
C |
T |
4: 114,946,214 (GRCm39) |
P25S |
possibly damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,998,843 (GRCm39) |
V73D |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Qars1 |
C |
T |
9: 108,388,738 (GRCm39) |
T266M |
probably damaging |
Het |
| Slc26a2 |
A |
C |
18: 61,331,332 (GRCm39) |
C700G |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,924,829 (GRCm39) |
A724E |
probably damaging |
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 |
|
IGL01653:Nhlrc2
|
APN |
19 |
56,559,282 (GRCm39) |
missense |
probably benign |
0.25 |
|
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 |
2013-12-09 |
Incidental Mutation