Incidental Mutation 'R5989:Nmral1'
ID |
481901 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nmral1
|
Ensembl Gene |
ENSMUSG00000063445 |
Gene Name |
NmrA-like family domain containing 1 |
Synonyms |
1110025F24Rik |
MMRRC Submission |
044169-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5989 (G1)
|
Quality Score |
125.008 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
4529181-4537220 bp(-) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
G to A
at 4536902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074970]
[ENSMUST00000079130]
[ENSMUST00000115851]
[ENSMUST00000120056]
|
AlphaFold |
Q8K2T1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074970
|
SMART Domains |
Protein: ENSMUSP00000074500 Gene: ENSMUSG00000063445
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
|
SMART Domains |
Protein: ENSMUSP00000078132 Gene: ENSMUSG00000063445
Domain | Start | End | E-Value | Type |
Pfam:NmrA
|
7 |
250 |
3.9e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115851
|
SMART Domains |
Protein: ENSMUSP00000111517 Gene: ENSMUSG00000063445
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
|
SMART Domains |
Protein: ENSMUSP00000112754 Gene: ENSMUSG00000063445
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 |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.6%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cartpt |
T |
A |
13: 100,035,492 (GRCm39) |
I109F |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,454,160 (GRCm39) |
P3562L |
possibly damaging |
Het |
Cyp2c40 |
T |
C |
19: 39,796,024 (GRCm39) |
D118G |
probably benign |
Het |
Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
Drgx |
A |
G |
14: 32,330,145 (GRCm39) |
N116S |
probably benign |
Het |
Ebf1 |
G |
T |
11: 44,886,998 (GRCm39) |
C565F |
probably damaging |
Het |
Ggnbp1 |
A |
G |
17: 27,248,721 (GRCm39) |
R97G |
probably benign |
Het |
Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
Gm42417 |
A |
G |
1: 36,571,273 (GRCm39) |
F183L |
probably damaging |
Het |
Ipcef1 |
A |
T |
10: 6,929,532 (GRCm39) |
Y69* |
probably null |
Het |
Lcp1 |
A |
T |
14: 75,436,827 (GRCm39) |
M58L |
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,480,098 (GRCm39) |
T55A |
probably damaging |
Het |
Nefm |
A |
G |
14: 68,361,778 (GRCm39) |
V162A |
probably benign |
Het |
Or5h23 |
A |
T |
16: 58,906,697 (GRCm39) |
W50R |
probably benign |
Het |
Panx2 |
T |
C |
15: 88,944,455 (GRCm39) |
L60P |
probably damaging |
Het |
Prkag3 |
T |
C |
1: 74,780,433 (GRCm39) |
N411D |
probably benign |
Het |
Ramacl |
G |
A |
13: 67,056,050 (GRCm39) |
M14I |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rttn |
G |
A |
18: 88,991,750 (GRCm39) |
D110N |
probably damaging |
Het |
Sfta2 |
G |
T |
17: 35,960,672 (GRCm39) |
|
probably benign |
Het |
Slc17a3 |
A |
G |
13: 24,026,411 (GRCm39) |
|
probably benign |
Het |
Spem1 |
G |
A |
11: 69,711,951 (GRCm39) |
P238S |
possibly damaging |
Het |
Tmem200c |
G |
T |
17: 69,144,431 (GRCm39) |
|
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,795,734 (GRCm39) |
F131S |
probably damaging |
Het |
Vps51 |
A |
G |
19: 6,126,402 (GRCm39) |
S117P |
probably damaging |
Het |
Zbtb21 |
G |
A |
16: 97,752,699 (GRCm39) |
P556L |
probably 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 |
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 |
|
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 |
|
Predicted Primers |
|
Posted On |
2017-06-26 |