Incidental Mutation 'IGL01333:Nktr'
ID |
74550 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nktr
|
Ensembl Gene |
ENSMUSG00000032525 |
Gene Name |
natural killer tumor recognition sequence |
Synonyms |
D9Wsu172e, 5330401F18Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.620)
|
Stock # |
IGL01333
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
121548235-121585909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121560630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 125
(I125V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035112]
[ENSMUST00000182179]
[ENSMUST00000182225]
[ENSMUST00000182311]
[ENSMUST00000182337]
[ENSMUST00000182763]
[ENSMUST00000183070]
|
AlphaFold |
P30415 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035112
AA Change: I125V
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035112 Gene: ENSMUSG00000032525 AA Change: I125V
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
10 |
175 |
1.7e-48 |
PFAM |
low complexity region
|
195 |
229 |
N/A |
INTRINSIC |
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
low complexity region
|
346 |
360 |
N/A |
INTRINSIC |
low complexity region
|
427 |
459 |
N/A |
INTRINSIC |
low complexity region
|
477 |
503 |
N/A |
INTRINSIC |
low complexity region
|
509 |
565 |
N/A |
INTRINSIC |
low complexity region
|
677 |
726 |
N/A |
INTRINSIC |
low complexity region
|
736 |
749 |
N/A |
INTRINSIC |
low complexity region
|
797 |
812 |
N/A |
INTRINSIC |
low complexity region
|
900 |
914 |
N/A |
INTRINSIC |
low complexity region
|
921 |
929 |
N/A |
INTRINSIC |
low complexity region
|
948 |
958 |
N/A |
INTRINSIC |
low complexity region
|
983 |
1003 |
N/A |
INTRINSIC |
low complexity region
|
1189 |
1200 |
N/A |
INTRINSIC |
low complexity region
|
1229 |
1236 |
N/A |
INTRINSIC |
low complexity region
|
1316 |
1453 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182086
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182179
|
SMART Domains |
Protein: ENSMUSP00000138437 Gene: ENSMUSG00000032525
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
10 |
103 |
1.9e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182225
AA Change: I125V
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000138168 Gene: ENSMUSG00000032525 AA Change: I125V
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
10 |
175 |
2.1e-47 |
PFAM |
low complexity region
|
184 |
215 |
N/A |
INTRINSIC |
low complexity region
|
252 |
269 |
N/A |
INTRINSIC |
low complexity region
|
321 |
335 |
N/A |
INTRINSIC |
low complexity region
|
402 |
434 |
N/A |
INTRINSIC |
low complexity region
|
452 |
478 |
N/A |
INTRINSIC |
low complexity region
|
484 |
540 |
N/A |
INTRINSIC |
low complexity region
|
652 |
701 |
N/A |
INTRINSIC |
low complexity region
|
711 |
724 |
N/A |
INTRINSIC |
low complexity region
|
772 |
787 |
N/A |
INTRINSIC |
low complexity region
|
875 |
889 |
N/A |
INTRINSIC |
low complexity region
|
896 |
904 |
N/A |
INTRINSIC |
low complexity region
|
923 |
933 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182311
AA Change: I89V
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000138690 Gene: ENSMUSG00000032525 AA Change: I89V
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
10 |
54 |
2.9e-8 |
PFAM |
Pfam:Pro_isomerase
|
44 |
99 |
7.1e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182337
|
SMART Domains |
Protein: ENSMUSP00000138164 Gene: ENSMUSG00000032525
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
7 |
101 |
1e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182763
|
SMART Domains |
Protein: ENSMUSP00000138272 Gene: ENSMUSG00000032525
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
10 |
68 |
3.1e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183070
|
SMART Domains |
Protein: ENSMUSP00000138611 Gene: ENSMUSG00000032525
Domain | Start | End | E-Value | Type |
Pfam:Pro_isomerase
|
10 |
103 |
1.9e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183311
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182904
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182395
|
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 a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
G |
T |
7: 119,981,531 (GRCm39) |
C995F |
probably damaging |
Het |
Adamts7 |
G |
T |
9: 90,069,032 (GRCm39) |
G525C |
probably damaging |
Het |
Akap1 |
T |
C |
11: 88,736,431 (GRCm39) |
E110G |
probably damaging |
Het |
Ankrd7 |
A |
G |
6: 18,879,345 (GRCm39) |
H263R |
probably damaging |
Het |
Cav3 |
T |
C |
6: 112,436,888 (GRCm39) |
|
probably null |
Het |
Ccdc66 |
T |
C |
14: 27,215,272 (GRCm39) |
R423G |
possibly damaging |
Het |
Cep76 |
C |
T |
18: 67,773,187 (GRCm39) |
R37Q |
probably benign |
Het |
Chfr |
A |
G |
5: 110,291,439 (GRCm39) |
K86E |
possibly damaging |
Het |
Eif2b3 |
T |
A |
4: 116,927,887 (GRCm39) |
S369T |
probably benign |
Het |
Hgf |
A |
T |
5: 16,781,939 (GRCm39) |
R221* |
probably null |
Het |
Hspg2 |
T |
C |
4: 137,267,625 (GRCm39) |
Y2078H |
probably damaging |
Het |
Kif22 |
A |
C |
7: 126,633,367 (GRCm39) |
V55G |
probably damaging |
Het |
Mme |
T |
C |
3: 63,253,512 (GRCm39) |
I452T |
probably damaging |
Het |
Mrpl41 |
T |
C |
2: 24,864,453 (GRCm39) |
N73S |
probably benign |
Het |
Mup6 |
T |
C |
4: 60,005,529 (GRCm39) |
F112S |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,217,998 (GRCm39) |
F1784L |
probably benign |
Het |
Nwd1 |
A |
G |
8: 73,393,439 (GRCm39) |
D275G |
possibly damaging |
Het |
Or4d11 |
G |
A |
19: 12,013,305 (GRCm39) |
T267I |
probably benign |
Het |
Or5h19 |
T |
C |
16: 58,856,269 (GRCm39) |
Y277C |
probably damaging |
Het |
Pde6c |
G |
A |
19: 38,164,143 (GRCm39) |
E666K |
probably benign |
Het |
Pth2r |
A |
T |
1: 65,427,884 (GRCm39) |
D519V |
probably benign |
Het |
Reln |
A |
T |
5: 22,376,249 (GRCm39) |
I169N |
probably damaging |
Het |
Shoc1 |
T |
C |
4: 59,047,870 (GRCm39) |
N1250D |
possibly damaging |
Het |
Slc25a13 |
A |
G |
6: 6,042,739 (GRCm39) |
|
probably null |
Het |
Smg1 |
A |
G |
7: 117,762,601 (GRCm39) |
|
probably benign |
Het |
Sp1 |
A |
G |
15: 102,339,364 (GRCm39) |
E434G |
probably damaging |
Het |
Stt3b |
A |
T |
9: 115,086,612 (GRCm39) |
Y336N |
probably damaging |
Het |
Vmn2r104 |
T |
A |
17: 20,263,055 (GRCm39) |
R135S |
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,464,387 (GRCm39) |
T1515I |
probably damaging |
Het |
Zfp280d |
A |
G |
9: 72,242,396 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Nktr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01402:Nktr
|
APN |
9 |
121,570,218 (GRCm39) |
splice site |
probably null |
|
IGL01404:Nktr
|
APN |
9 |
121,570,218 (GRCm39) |
splice site |
probably null |
|
IGL02945:Nktr
|
APN |
9 |
121,557,697 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03334:Nktr
|
APN |
9 |
121,577,242 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03134:Nktr
|
UTSW |
9 |
121,575,532 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4131001:Nktr
|
UTSW |
9 |
121,570,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Nktr
|
UTSW |
9 |
121,570,232 (GRCm39) |
splice site |
probably benign |
|
R0158:Nktr
|
UTSW |
9 |
121,579,757 (GRCm39) |
unclassified |
probably benign |
|
R0399:Nktr
|
UTSW |
9 |
121,560,550 (GRCm39) |
missense |
probably damaging |
0.98 |
R0503:Nktr
|
UTSW |
9 |
121,579,806 (GRCm39) |
unclassified |
probably benign |
|
R0585:Nktr
|
UTSW |
9 |
121,583,346 (GRCm39) |
utr 3 prime |
probably benign |
|
R0606:Nktr
|
UTSW |
9 |
121,578,356 (GRCm39) |
unclassified |
probably benign |
|
R1248:Nktr
|
UTSW |
9 |
121,556,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:Nktr
|
UTSW |
9 |
121,577,932 (GRCm39) |
unclassified |
probably benign |
|
R1912:Nktr
|
UTSW |
9 |
121,579,306 (GRCm39) |
unclassified |
probably benign |
|
R2049:Nktr
|
UTSW |
9 |
121,570,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R2279:Nktr
|
UTSW |
9 |
121,560,603 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2912:Nktr
|
UTSW |
9 |
121,578,670 (GRCm39) |
unclassified |
probably benign |
|
R2913:Nktr
|
UTSW |
9 |
121,578,670 (GRCm39) |
unclassified |
probably benign |
|
R2914:Nktr
|
UTSW |
9 |
121,578,670 (GRCm39) |
unclassified |
probably benign |
|
R3939:Nktr
|
UTSW |
9 |
121,578,135 (GRCm39) |
unclassified |
probably benign |
|
R4080:Nktr
|
UTSW |
9 |
121,570,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R4471:Nktr
|
UTSW |
9 |
121,577,962 (GRCm39) |
unclassified |
probably benign |
|
R4472:Nktr
|
UTSW |
9 |
121,577,962 (GRCm39) |
unclassified |
probably benign |
|
R4506:Nktr
|
UTSW |
9 |
121,577,949 (GRCm39) |
unclassified |
probably benign |
|
R4556:Nktr
|
UTSW |
9 |
121,570,189 (GRCm39) |
missense |
probably damaging |
0.98 |
R4736:Nktr
|
UTSW |
9 |
121,578,805 (GRCm39) |
unclassified |
probably benign |
|
R4749:Nktr
|
UTSW |
9 |
121,570,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R4943:Nktr
|
UTSW |
9 |
121,549,020 (GRCm39) |
intron |
probably benign |
|
R5084:Nktr
|
UTSW |
9 |
121,577,176 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5250:Nktr
|
UTSW |
9 |
121,578,858 (GRCm39) |
unclassified |
probably benign |
|
R5288:Nktr
|
UTSW |
9 |
121,577,659 (GRCm39) |
missense |
probably benign |
0.23 |
R5324:Nktr
|
UTSW |
9 |
121,556,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R5330:Nktr
|
UTSW |
9 |
121,581,834 (GRCm39) |
intron |
probably benign |
|
R5331:Nktr
|
UTSW |
9 |
121,581,834 (GRCm39) |
intron |
probably benign |
|
R5502:Nktr
|
UTSW |
9 |
121,577,672 (GRCm39) |
unclassified |
probably benign |
|
R5587:Nktr
|
UTSW |
9 |
121,577,555 (GRCm39) |
unclassified |
probably benign |
|
R5664:Nktr
|
UTSW |
9 |
121,578,483 (GRCm39) |
nonsense |
probably null |
|
R6005:Nktr
|
UTSW |
9 |
121,577,460 (GRCm39) |
unclassified |
probably benign |
|
R6057:Nktr
|
UTSW |
9 |
121,577,455 (GRCm39) |
unclassified |
probably benign |
|
R6083:Nktr
|
UTSW |
9 |
121,579,202 (GRCm39) |
unclassified |
probably benign |
|
R6274:Nktr
|
UTSW |
9 |
121,560,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R6445:Nktr
|
UTSW |
9 |
121,577,480 (GRCm39) |
unclassified |
probably benign |
|
R6467:Nktr
|
UTSW |
9 |
121,560,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R6911:Nktr
|
UTSW |
9 |
121,583,392 (GRCm39) |
nonsense |
probably null |
|
R6960:Nktr
|
UTSW |
9 |
121,571,758 (GRCm39) |
missense |
probably damaging |
0.99 |
R7226:Nktr
|
UTSW |
9 |
121,575,599 (GRCm39) |
missense |
probably damaging |
0.99 |
R7324:Nktr
|
UTSW |
9 |
121,577,357 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7324:Nktr
|
UTSW |
9 |
121,556,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R7451:Nktr
|
UTSW |
9 |
121,558,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R7464:Nktr
|
UTSW |
9 |
121,579,393 (GRCm39) |
missense |
unknown |
|
R7537:Nktr
|
UTSW |
9 |
121,578,345 (GRCm39) |
missense |
unknown |
|
R8126:Nktr
|
UTSW |
9 |
121,575,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R8163:Nktr
|
UTSW |
9 |
121,579,929 (GRCm39) |
unclassified |
probably benign |
|
R8812:Nktr
|
UTSW |
9 |
121,579,317 (GRCm39) |
missense |
unknown |
|
R8829:Nktr
|
UTSW |
9 |
121,583,330 (GRCm39) |
missense |
unknown |
|
R8945:Nktr
|
UTSW |
9 |
121,575,558 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9158:Nktr
|
UTSW |
9 |
121,582,154 (GRCm39) |
missense |
unknown |
|
R9252:Nktr
|
UTSW |
9 |
121,579,415 (GRCm39) |
missense |
unknown |
|
R9378:Nktr
|
UTSW |
9 |
121,577,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |