Incidental Mutation 'R3150:Nmral1'
| ID |
271647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nmral1
|
| Ensembl Gene |
ENSMUSG00000063445 |
| Gene Name |
NmrA-like family domain containing 1 |
| Synonyms |
1110025F24Rik |
| MMRRC Submission |
040602-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3150 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4529181-4537220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4534333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 36
(T36I)
|
| 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: T36I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074500
Gene: ENSMUSG00000063445
AA Change: T36I
| 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: T36I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078132
Gene: ENSMUSG00000063445
AA Change: T36I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NmrA
|
7 |
250 |
3.9e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115851
AA Change: T36I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111517
Gene: ENSMUSG00000063445
AA Change: T36I
| 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: T36I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112754
Gene: ENSMUSG00000063445
AA Change: T36I
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
A |
T |
4: 63,313,590 (GRCm39) |
S178T |
possibly damaging |
Het |
| Cabin1 |
A |
G |
10: 75,492,745 (GRCm39) |
L1850P |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,200,709 (GRCm39) |
A416E |
possibly damaging |
Het |
| Ces1g |
C |
T |
8: 94,052,444 (GRCm39) |
V282I |
probably benign |
Het |
| Col4a3 |
T |
G |
1: 82,634,858 (GRCm39) |
|
probably null |
Het |
| Crat |
C |
T |
2: 30,303,871 (GRCm39) |
|
probably null |
Het |
| Csf2ra |
C |
A |
19: 61,215,758 (GRCm39) |
A16S |
possibly damaging |
Het |
| Cspg4b |
A |
T |
13: 113,488,294 (GRCm39) |
Q105H |
probably damaging |
Het |
| Cyp4f18 |
T |
C |
8: 72,747,044 (GRCm39) |
D317G |
possibly damaging |
Het |
| Ddb1 |
T |
A |
19: 10,590,346 (GRCm39) |
M291K |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,853,620 (GRCm39) |
T1528N |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 106,443,853 (GRCm39) |
G230D |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,868,410 (GRCm39) |
S257P |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,804 (GRCm39) |
E362G |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,291,089 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Hnrnph1 |
T |
A |
11: 50,276,619 (GRCm39) |
V439E |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,790,153 (GRCm39) |
H651N |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,202,336 (GRCm39) |
T189M |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,029,653 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Or4c1 |
C |
T |
2: 89,133,562 (GRCm39) |
V125M |
possibly damaging |
Het |
| Or5b119 |
A |
G |
19: 13,456,824 (GRCm39) |
V246A |
probably damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,510 (GRCm39) |
I135T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,462,700 (GRCm39) |
L307P |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,798,765 (GRCm39) |
R2691L |
probably benign |
Het |
| Ppp2r2a |
G |
A |
14: 67,261,214 (GRCm39) |
R169W |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,334,488 (GRCm39) |
|
probably null |
Het |
| Robo1 |
C |
T |
16: 72,767,157 (GRCm39) |
P443L |
possibly damaging |
Het |
| Rtn4 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
11: 29,643,308 (GRCm39) |
|
probably benign |
Het |
| Shprh |
A |
G |
10: 11,045,774 (GRCm39) |
H865R |
probably damaging |
Het |
| Spats1 |
A |
T |
17: 45,775,480 (GRCm39) |
S15T |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,220,327 (GRCm39) |
T216A |
probably benign |
Het |
| Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,333,022 (GRCm39) |
A902V |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,051,407 (GRCm39) |
Q312R |
probably damaging |
Het |
| Vmn2r32 |
T |
C |
7: 7,475,554 (GRCm39) |
Y443C |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,813,360 (GRCm39) |
D3274E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,971,095 (GRCm39) |
N167K |
possibly damaging |
Het |
| Xpo5 |
A |
G |
17: 46,553,173 (GRCm39) |
|
probably null |
Het |
| Zswim7 |
A |
T |
11: 62,164,611 (GRCm39) |
I43N |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 13,011,196 (GRCm39) |
T51A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCTTGTCTGAGACACAC -3'
(R):5'- AGGTTAAGGAGACACCATGTTTC -3'
Sequencing Primer
(F):5'- GGCCTTGTCTGAGACACACTAAAC -3'
(R):5'- AGGAGACACCATGTTTCTTGGAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation