Incidental Mutation 'IGL00650:Nmral1'
| ID |
12396 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nmral1
|
| Ensembl Gene |
ENSMUSG00000063445 |
| Gene Name |
NmrA-like family domain containing 1 |
| Synonyms |
1110025F24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
4529181-4537220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4534240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 67
(L67Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074970]
[ENSMUST00000079130]
[ENSMUST00000115851]
[ENSMUST00000120056]
|
| AlphaFold |
Q8K2T1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074970
AA Change: L67Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000074500
Gene: ENSMUSG00000063445
AA Change: L67Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
5 |
80 |
2.2e-7 |
PFAM |
|
Pfam:KR
|
6 |
79 |
1.5e-7 |
PFAM |
|
Pfam:TrkA_N
|
7 |
92 |
4.1e-7 |
PFAM |
|
Pfam:NAD_binding_10
|
7 |
191 |
5.9e-17 |
PFAM |
|
Pfam:NmrA
|
7 |
240 |
1e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079130
AA Change: L67Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000078132
Gene: ENSMUSG00000063445
AA Change: L67Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NmrA
|
7 |
250 |
3.9e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115851
AA Change: L67Q
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000111517
Gene: ENSMUSG00000063445
AA Change: L67Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
5 |
80 |
3.9e-7 |
PFAM |
|
Pfam:KR
|
6 |
79 |
2.4e-7 |
PFAM |
|
Pfam:TrkA_N
|
7 |
93 |
9.2e-8 |
PFAM |
|
Pfam:NAD_binding_10
|
7 |
188 |
8.1e-17 |
PFAM |
|
Pfam:NmrA
|
7 |
240 |
1.5e-58 |
PFAM |
|
low complexity region
|
242 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120056
AA Change: L67Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112754
Gene: ENSMUSG00000063445
AA Change: L67Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
5 |
80 |
1.1e-6 |
PFAM |
|
Pfam:KR
|
6 |
79 |
7.4e-7 |
PFAM |
|
Pfam:TrkA_N
|
7 |
112 |
5.9e-7 |
PFAM |
|
Pfam:NAD_binding_10
|
7 |
188 |
4.2e-16 |
PFAM |
|
Pfam:NmrA
|
7 |
240 |
6.7e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125140
|
| 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 an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530401A14Rik |
A |
G |
11: 81,784,694 (GRCm39) |
|
probably benign |
Het |
| 9130230L23Rik |
T |
C |
5: 66,147,187 (GRCm39) |
N76S |
unknown |
Het |
| Chm |
A |
G |
X: 111,953,292 (GRCm39) |
F574S |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,538,128 (GRCm39) |
I3619T |
possibly damaging |
Het |
| Dock11 |
A |
T |
X: 35,270,246 (GRCm39) |
|
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,163,622 (GRCm39) |
M818K |
possibly damaging |
Het |
| Ghrhr |
A |
G |
6: 55,356,110 (GRCm39) |
T68A |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,159,796 (GRCm39) |
|
probably benign |
Het |
| Inpp5f |
T |
A |
7: 128,265,991 (GRCm39) |
W211R |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,675,692 (GRCm39) |
I1151M |
probably benign |
Het |
| Klra9 |
T |
C |
6: 130,156,060 (GRCm39) |
K232E |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,380,664 (GRCm39) |
N3664S |
probably damaging |
Het |
| Ndst2 |
A |
C |
14: 20,779,736 (GRCm39) |
I168S |
possibly damaging |
Het |
| Nrk |
G |
T |
X: 137,873,670 (GRCm39) |
V322F |
probably damaging |
Het |
| Qpct |
G |
A |
17: 79,378,318 (GRCm39) |
V163M |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,331,096 (GRCm39) |
|
probably null |
Het |
| Scn1a |
C |
T |
2: 66,111,137 (GRCm39) |
G1484D |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,275,626 (GRCm39) |
D411G |
possibly damaging |
Het |
| Xpo5 |
T |
C |
17: 46,519,172 (GRCm39) |
Y204H |
probably damaging |
Het |
| Zrsr2 |
A |
T |
X: 162,722,313 (GRCm39) |
M313K |
probably benign |
Het |
|
| Other mutations in Nmral1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00948:Nmral1
|
APN |
16 |
4,534,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Nmral1
|
APN |
16 |
4,534,346 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2061:Nmral1
|
UTSW |
16 |
4,534,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Nmral1
|
UTSW |
16 |
4,534,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2071:Nmral1
|
UTSW |
16 |
4,534,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3150:Nmral1
|
UTSW |
16 |
4,534,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4369:Nmral1
|
UTSW |
16 |
4,532,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4689:Nmral1
|
UTSW |
16 |
4,532,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4690:Nmral1
|
UTSW |
16 |
4,534,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Nmral1
|
UTSW |
16 |
4,534,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Nmral1
|
UTSW |
16 |
4,534,274 (GRCm39) |
nonsense |
probably null |
|
|
R5090:Nmral1
|
UTSW |
16 |
4,532,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Nmral1
|
UTSW |
16 |
4,533,493 (GRCm39) |
missense |
probably benign |
|
|
R5989:Nmral1
|
UTSW |
16 |
4,536,902 (GRCm39) |
start gained |
probably benign |
|
|
R6525:Nmral1
|
UTSW |
16 |
4,532,296 (GRCm39) |
nonsense |
probably null |
|
|
R7313:Nmral1
|
UTSW |
16 |
4,531,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8202:Nmral1
|
UTSW |
16 |
4,532,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8257:Nmral1
|
UTSW |
16 |
4,534,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8280:Nmral1
|
UTSW |
16 |
4,531,659 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9228:Nmral1
|
UTSW |
16 |
4,531,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation