Incidental Mutation 'IGL02610:Ncr1'
ID |
300442 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ncr1
|
Ensembl Gene |
ENSMUSG00000062524 |
Gene Name |
natural cytotoxicity triggering receptor 1 |
Synonyms |
Ly94, NKp46, MAR1 (mouse activating receptor 1), Cd335 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
IGL02610
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
4340723-4348163 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4341132 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 41
(N41I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006792]
[ENSMUST00000126417]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006792
AA Change: N41I
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000006792 Gene: ENSMUSG00000062524 AA Change: N41I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
IG
|
34 |
118 |
5.21e-2 |
SMART |
IG
|
129 |
211 |
1.49e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126417
AA Change: N4I
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mutations in this gene lead to alterations in susceptibility to viral infection induced morbidity/mortality, NK cell number, NK cell cytolysis, and T cell responses. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Ccdc93 |
T |
G |
1: 121,420,700 (GRCm39) |
V527G |
probably benign |
Het |
Ctcfl |
C |
A |
2: 172,947,819 (GRCm39) |
|
probably benign |
Het |
Dmd |
T |
C |
X: 82,707,762 (GRCm39) |
S359P |
probably damaging |
Het |
Drc3 |
T |
C |
11: 60,261,419 (GRCm39) |
F190S |
probably benign |
Het |
Dync1h1 |
A |
T |
12: 110,625,666 (GRCm39) |
K3943* |
probably null |
Het |
Dzip3 |
A |
G |
16: 48,772,016 (GRCm39) |
V551A |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,485,723 (GRCm39) |
L237M |
unknown |
Het |
Gab1 |
A |
G |
8: 81,526,728 (GRCm39) |
|
probably null |
Het |
Gm6430 |
G |
A |
1: 96,952,560 (GRCm39) |
|
noncoding transcript |
Het |
Ighv16-1 |
A |
T |
12: 114,032,733 (GRCm39) |
V23E |
probably damaging |
Het |
Ikbkb |
T |
A |
8: 23,165,088 (GRCm39) |
|
probably null |
Het |
Nfkbib |
T |
C |
7: 28,459,274 (GRCm39) |
D319G |
probably damaging |
Het |
Nkain3 |
T |
C |
4: 20,469,459 (GRCm39) |
E85G |
probably damaging |
Het |
Or51h1 |
G |
A |
7: 102,308,774 (GRCm39) |
V249M |
probably benign |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Ppp2r2b |
A |
G |
18: 42,781,840 (GRCm39) |
|
probably benign |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Rhod |
A |
G |
19: 4,476,203 (GRCm39) |
F183L |
probably damaging |
Het |
Slc35f3 |
A |
T |
8: 127,047,956 (GRCm39) |
T99S |
probably damaging |
Het |
Spata31e4 |
T |
C |
13: 50,855,748 (GRCm39) |
V462A |
possibly damaging |
Het |
Spock3 |
A |
G |
8: 63,798,771 (GRCm39) |
Y264C |
probably damaging |
Het |
Trnt1 |
T |
C |
6: 106,755,779 (GRCm39) |
F278S |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,176,663 (GRCm39) |
Y1276N |
probably damaging |
Het |
Veph1 |
A |
G |
3: 66,079,588 (GRCm39) |
L309P |
probably damaging |
Het |
Vmn1r7 |
G |
T |
6: 57,002,037 (GRCm39) |
F74L |
probably benign |
Het |
Vsnl1 |
C |
T |
12: 11,382,072 (GRCm39) |
W103* |
probably null |
Het |
|
Other mutations in Ncr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00832:Ncr1
|
APN |
7 |
4,344,287 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01994:Ncr1
|
APN |
7 |
4,344,253 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02163:Ncr1
|
APN |
7 |
4,344,262 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02885:Ncr1
|
APN |
7 |
4,341,225 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03082:Ncr1
|
APN |
7 |
4,344,241 (GRCm39) |
splice site |
probably benign |
|
R0196:Ncr1
|
UTSW |
7 |
4,343,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R1172:Ncr1
|
UTSW |
7 |
4,341,120 (GRCm39) |
missense |
probably benign |
0.19 |
R1758:Ncr1
|
UTSW |
7 |
4,343,807 (GRCm39) |
missense |
probably benign |
0.40 |
R2065:Ncr1
|
UTSW |
7 |
4,341,206 (GRCm39) |
missense |
probably benign |
0.00 |
R2135:Ncr1
|
UTSW |
7 |
4,343,756 (GRCm39) |
splice site |
probably benign |
|
R2397:Ncr1
|
UTSW |
7 |
4,341,260 (GRCm39) |
missense |
probably benign |
0.22 |
R5389:Ncr1
|
UTSW |
7 |
4,343,932 (GRCm39) |
missense |
probably benign |
0.01 |
R5648:Ncr1
|
UTSW |
7 |
4,347,519 (GRCm39) |
missense |
probably damaging |
0.97 |
R5690:Ncr1
|
UTSW |
7 |
4,341,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R5817:Ncr1
|
UTSW |
7 |
4,343,894 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5847:Ncr1
|
UTSW |
7 |
4,347,573 (GRCm39) |
missense |
probably benign |
0.04 |
R7033:Ncr1
|
UTSW |
7 |
4,341,144 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7391:Ncr1
|
UTSW |
7 |
4,347,470 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7395:Ncr1
|
UTSW |
7 |
4,341,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R7680:Ncr1
|
UTSW |
7 |
4,341,123 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8163:Ncr1
|
UTSW |
7 |
4,343,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R8472:Ncr1
|
UTSW |
7 |
4,341,120 (GRCm39) |
missense |
probably benign |
0.19 |
R8782:Ncr1
|
UTSW |
7 |
4,340,763 (GRCm39) |
missense |
probably benign |
0.01 |
R8880:Ncr1
|
UTSW |
7 |
4,341,336 (GRCm39) |
missense |
probably benign |
0.00 |
R9066:Ncr1
|
UTSW |
7 |
4,347,552 (GRCm39) |
missense |
probably benign |
0.13 |
R9789:Ncr1
|
UTSW |
7 |
4,344,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2015-04-16 |