Incidental Mutation 'R0585:Nktr'
| ID |
55719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nktr
|
| Ensembl Gene |
ENSMUSG00000032525 |
| Gene Name |
natural killer tumor recognition sequence |
| Synonyms |
D9Wsu172e, 5330401F18Rik |
| MMRRC Submission |
038775-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.688)
|
| Stock # |
R0585 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121548235-121585909 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 121583346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035112]
[ENSMUST00000182225]
[ENSMUST00000182503]
|
| AlphaFold |
P30415 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000035112
AA Change: D1437G
|
| SMART Domains |
Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: D1437G
| 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: ENSMUST00000181325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182076
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182225
|
| SMART Domains |
Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
| 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: ENSMUST00000182503
|
| SMART Domains |
Protein: ENSMUSP00000138463
Gene: ENSMUSG00000032525
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
85 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182607
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182713
AA Change: D78G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213351
|
| Meta Mutation Damage Score |
0.1904 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.2%
|
| Validation Efficiency |
100% (38/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brdt |
T |
G |
5: 107,504,748 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
C |
T |
10: 41,462,375 (GRCm39) |
C1474Y |
probably benign |
Het |
| Ces2e |
T |
C |
8: 105,656,453 (GRCm39) |
S228P |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,738,386 (GRCm39) |
H41N |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,525,203 (GRCm39) |
I169F |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,057,686 (GRCm39) |
K107R |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,627,138 (GRCm39) |
N231Y |
possibly damaging |
Het |
| Eps8l3 |
G |
C |
3: 107,788,513 (GRCm39) |
D33H |
probably damaging |
Het |
| Evi5 |
T |
C |
5: 107,961,402 (GRCm39) |
|
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
| Gm3993 |
T |
A |
12: 20,122,149 (GRCm39) |
|
probably null |
Het |
| Gtf2ird1 |
A |
C |
5: 134,405,796 (GRCm39) |
L28R |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,997,663 (GRCm39) |
D75G |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,755,721 (GRCm39) |
V267A |
probably benign |
Het |
| Larp4b |
A |
G |
13: 9,197,529 (GRCm39) |
T249A |
probably damaging |
Het |
| Larp4b |
A |
G |
13: 9,220,737 (GRCm39) |
D578G |
probably benign |
Het |
| Lyz3 |
T |
A |
10: 117,074,356 (GRCm39) |
I44F |
possibly damaging |
Het |
| Matn3 |
A |
T |
12: 9,011,103 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,736,541 (GRCm39) |
Y428N |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,459,527 (GRCm39) |
D661E |
probably damaging |
Het |
| Npbwr1 |
G |
A |
1: 5,986,677 (GRCm39) |
T279I |
possibly damaging |
Het |
| Or52n3 |
A |
C |
7: 104,530,706 (GRCm39) |
H264P |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,867,274 (GRCm39) |
I341V |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,146,384 (GRCm39) |
|
probably null |
Het |
| Pknox2 |
G |
A |
9: 36,821,056 (GRCm39) |
|
probably benign |
Het |
| Pla2g2d |
A |
C |
4: 138,506,704 (GRCm39) |
D50A |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,451,664 (GRCm39) |
L1051F |
probably damaging |
Het |
| Rap1gds1 |
G |
A |
3: 138,727,633 (GRCm39) |
T59M |
probably benign |
Het |
| Rps5 |
T |
C |
7: 12,659,332 (GRCm39) |
V41A |
possibly damaging |
Het |
| Ryr1 |
G |
T |
7: 28,735,501 (GRCm39) |
D4092E |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,511,905 (GRCm39) |
Y117C |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,072,367 (GRCm39) |
|
probably null |
Het |
| Tlr9 |
C |
T |
9: 106,102,275 (GRCm39) |
T522I |
probably benign |
Het |
| Tspan3 |
A |
T |
9: 56,053,216 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,703,503 (GRCm39) |
|
probably benign |
Het |
| Zfp773 |
T |
A |
7: 7,135,574 (GRCm39) |
I341L |
probably benign |
Het |
| Zmat3 |
G |
A |
3: 32,415,254 (GRCm39) |
P19S |
probably damaging |
Het |
|
| Other mutations in Nktr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Nktr
|
APN |
9 |
121,560,630 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGAGACTCTGTCCCTTTAACCCC -3'
(R):5'- TGGCAGCATGGATGCTAAAACCTG -3'
Sequencing Primer
(F):5'- GCTTCAGTCTAGTCTAGCATTGAC -3'
(R):5'- AGTTGCCTACTGTAAAATGGGTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation