Incidental Mutation 'IGL00948:Nmral1'
| ID |
29169 |
| 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 # |
IGL00948
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
4529181-4537220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4534270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 57
(G57E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074970]
[ENSMUST00000079130]
[ENSMUST00000115851]
[ENSMUST00000120056]
|
| AlphaFold |
Q8K2T1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074970
AA Change: G57E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074500
Gene: ENSMUSG00000063445
AA Change: G57E
| 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 damaging
Transcript: ENSMUST00000079130
AA Change: G57E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078132
Gene: ENSMUSG00000063445
AA Change: G57E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NmrA
|
7 |
250 |
3.9e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115851
AA Change: G57E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111517
Gene: ENSMUSG00000063445
AA Change: G57E
| 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 damaging
Transcript: ENSMUST00000120056
AA Change: G57E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112754
Gene: ENSMUSG00000063445
AA Change: G57E
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccl2 |
A |
T |
11: 81,926,558 (GRCm39) |
Q24L |
possibly damaging |
Het |
| Cd33 |
G |
A |
7: 43,178,982 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,544 (GRCm39) |
I2515V |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,069,082 (GRCm39) |
T101A |
probably benign |
Het |
| Cyp4a12a |
T |
A |
4: 115,159,159 (GRCm39) |
M143K |
probably damaging |
Het |
| Ephb4 |
C |
A |
5: 137,364,921 (GRCm39) |
S663R |
probably damaging |
Het |
| Gm4847 |
T |
C |
1: 166,457,907 (GRCm39) |
D482G |
probably benign |
Het |
| Gskip |
C |
A |
12: 105,665,103 (GRCm39) |
N47K |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,582,159 (GRCm39) |
Y473C |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,867,194 (GRCm39) |
N849I |
probably damaging |
Het |
| Magel2 |
T |
A |
7: 62,029,070 (GRCm39) |
V658E |
unknown |
Het |
| Or6c211 |
A |
T |
10: 129,505,756 (GRCm39) |
L211I |
probably damaging |
Het |
| Or8b54 |
C |
T |
9: 38,687,108 (GRCm39) |
Q186* |
probably null |
Het |
| Padi3 |
C |
A |
4: 140,516,254 (GRCm39) |
R542L |
possibly damaging |
Het |
| Plrg1 |
T |
C |
3: 82,975,426 (GRCm39) |
V260A |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,240,838 (GRCm39) |
H982R |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,387,779 (GRCm39) |
T448S |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,719,620 (GRCm39) |
M4262I |
possibly damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,622,696 (GRCm39) |
D441V |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,561 (GRCm39) |
E448G |
probably benign |
Het |
| Smtnl2 |
C |
A |
11: 72,302,067 (GRCm39) |
|
probably null |
Het |
| Tox3 |
G |
A |
8: 90,997,062 (GRCm39) |
P66L |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,382,247 (GRCm39) |
F267L |
probably benign |
Het |
| Vmn2r12 |
A |
G |
5: 109,245,541 (GRCm39) |
S64P |
possibly damaging |
Het |
| Zfp764 |
T |
C |
7: 127,004,376 (GRCm39) |
S252G |
possibly damaging |
Het |
|
| Other mutations in Nmral1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00650:Nmral1
|
APN |
16 |
4,534,240 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
2013-04-17 |
Incidental Mutation