Incidental Mutation 'R4471:Nktr'
ID |
329442 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nktr
|
Ensembl Gene |
ENSMUSG00000032525 |
Gene Name |
natural killer tumor recognition sequence |
Synonyms |
D9Wsu172e, 5330401F18Rik |
MMRRC Submission |
041728-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.620)
|
Stock # |
R4471 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
121548235-121585909 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 121577962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035112]
[ENSMUST00000182179]
[ENSMUST00000182225]
[ENSMUST00000182503]
|
AlphaFold |
P30415 |
Predicted Effect |
unknown
Transcript: ENSMUST00000035112
AA Change: S677P
|
SMART Domains |
Protein: ENSMUSP00000035112 Gene: ENSMUSG00000032525 AA Change: S677P
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: ENSMUST00000182076
|
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 |
unknown
Transcript: ENSMUST00000182225
AA Change: S652P
|
SMART Domains |
Protein: ENSMUSP00000138168 Gene: ENSMUSG00000032525 AA Change: S652P
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 |
probably benign
Transcript: ENSMUST00000182713
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213351
|
Meta Mutation Damage Score |
0.1216 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
99% (69/70) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk1 |
A |
G |
3: 127,473,175 (GRCm39) |
S943P |
probably damaging |
Het |
Ankdd1a |
T |
C |
9: 65,410,791 (GRCm39) |
D398G |
probably damaging |
Het |
Ankrd13b |
T |
A |
11: 77,367,040 (GRCm39) |
K49M |
probably damaging |
Het |
Asah1 |
A |
G |
8: 41,796,761 (GRCm39) |
|
probably null |
Het |
Cdc34b |
A |
G |
11: 94,633,064 (GRCm39) |
E88G |
probably benign |
Het |
Cdh2 |
T |
C |
18: 16,907,533 (GRCm39) |
|
probably null |
Het |
Ceacam1 |
T |
A |
7: 25,174,025 (GRCm39) |
N210I |
possibly damaging |
Het |
Celf3 |
A |
G |
3: 94,395,585 (GRCm39) |
|
probably null |
Het |
Cfap20dc |
A |
G |
14: 8,536,571 (GRCm38) |
L212P |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,228,833 (GRCm39) |
M2085K |
probably benign |
Het |
Cpne6 |
G |
A |
14: 55,754,089 (GRCm39) |
V469M |
probably damaging |
Het |
Cyp2j12 |
A |
G |
4: 96,021,306 (GRCm39) |
V100A |
probably benign |
Het |
Dnajb4 |
A |
T |
3: 151,890,799 (GRCm39) |
H333Q |
probably benign |
Het |
Eif3f |
T |
C |
7: 108,540,153 (GRCm39) |
V316A |
possibly damaging |
Het |
Eml1 |
T |
C |
12: 108,472,894 (GRCm39) |
|
probably benign |
Het |
Ern1 |
C |
A |
11: 106,310,868 (GRCm39) |
V302L |
possibly damaging |
Het |
Fam110b |
A |
T |
4: 5,799,092 (GRCm39) |
H170L |
probably benign |
Het |
Fn3krp |
T |
G |
11: 121,317,499 (GRCm39) |
D146E |
probably benign |
Het |
Git1 |
A |
G |
11: 77,390,650 (GRCm39) |
T129A |
probably benign |
Het |
Glrp1 |
T |
A |
1: 88,431,196 (GRCm39) |
Q58L |
unknown |
Het |
Gpatch2 |
A |
G |
1: 186,965,337 (GRCm39) |
E281G |
probably damaging |
Het |
Hipk2 |
T |
A |
6: 38,713,857 (GRCm39) |
|
probably benign |
Het |
Hydin |
A |
G |
8: 111,313,764 (GRCm39) |
N4214S |
probably damaging |
Het |
Icam5 |
T |
A |
9: 20,946,802 (GRCm39) |
C443* |
probably null |
Het |
Impdh1 |
G |
A |
6: 29,204,631 (GRCm39) |
Q307* |
probably null |
Het |
Ivns1abp |
C |
T |
1: 151,236,990 (GRCm39) |
T447M |
probably benign |
Het |
Lman1 |
A |
T |
18: 66,124,797 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,668,860 (GRCm39) |
E306G |
probably benign |
Het |
Msc |
G |
C |
1: 14,825,902 (GRCm39) |
P24R |
probably damaging |
Het |
Mtif2 |
T |
C |
11: 29,490,053 (GRCm39) |
|
probably benign |
Het |
Mvp |
C |
T |
7: 126,601,130 (GRCm39) |
M1I |
probably null |
Het |
Myh7 |
A |
T |
14: 55,229,311 (GRCm39) |
Y162* |
probably null |
Het |
Nemf |
G |
A |
12: 69,361,216 (GRCm39) |
H956Y |
probably benign |
Het |
Nrxn3 |
T |
C |
12: 90,171,515 (GRCm39) |
S276P |
probably damaging |
Het |
Or8d1 |
T |
C |
9: 38,766,927 (GRCm39) |
S190P |
probably damaging |
Het |
Patj |
A |
G |
4: 98,423,816 (GRCm39) |
K621E |
probably damaging |
Het |
Prss2 |
A |
G |
6: 41,499,780 (GRCm39) |
I24V |
probably damaging |
Het |
R3hcc1l |
T |
C |
19: 42,571,259 (GRCm39) |
|
probably benign |
Het |
Rest |
T |
C |
5: 77,429,027 (GRCm39) |
V482A |
probably benign |
Het |
Rexo1 |
A |
T |
10: 80,378,492 (GRCm39) |
S476T |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Slc16a3 |
T |
C |
11: 120,846,774 (GRCm39) |
|
probably benign |
Het |
Slc5a4b |
G |
A |
10: 75,894,725 (GRCm39) |
Q594* |
probably null |
Het |
Slk |
T |
G |
19: 47,603,862 (GRCm39) |
V202G |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,597,277 (GRCm39) |
V53D |
possibly damaging |
Het |
Snrnp200 |
T |
A |
2: 127,080,673 (GRCm39) |
V2036E |
probably benign |
Het |
Sox5 |
A |
G |
6: 143,790,491 (GRCm39) |
M523T |
possibly damaging |
Het |
Syt17 |
A |
G |
7: 118,036,040 (GRCm39) |
|
probably null |
Het |
Taf2 |
T |
C |
15: 54,922,276 (GRCm39) |
D337G |
possibly damaging |
Het |
Tcstv2a |
G |
T |
13: 120,725,579 (GRCm39) |
R81L |
probably benign |
Het |
Tecrl |
A |
G |
5: 83,461,134 (GRCm39) |
Y108H |
probably benign |
Het |
Tln1 |
A |
T |
4: 43,551,018 (GRCm39) |
F409L |
probably benign |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Ttc23 |
G |
A |
7: 67,319,904 (GRCm39) |
R187Q |
probably benign |
Het |
Ttl |
T |
C |
2: 128,923,977 (GRCm39) |
V230A |
probably benign |
Het |
Ube2u |
G |
A |
4: 100,338,843 (GRCm39) |
W36* |
probably null |
Het |
Ube4a |
A |
T |
9: 44,857,830 (GRCm39) |
|
probably benign |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Unc45a |
A |
G |
7: 79,982,728 (GRCm39) |
I399T |
possibly damaging |
Het |
Utp25 |
C |
T |
1: 192,812,445 (GRCm39) |
R5Q |
possibly damaging |
Het |
Wdr59 |
A |
C |
8: 112,193,419 (GRCm39) |
|
probably null |
Het |
Zfp24 |
A |
G |
18: 24,151,172 (GRCm39) |
|
probably benign |
Het |
Zfp777 |
A |
T |
6: 48,019,041 (GRCm39) |
W342R |
probably damaging |
Het |
Zfp979 |
A |
T |
4: 147,697,913 (GRCm39) |
C265* |
probably null |
Het |
Zzef1 |
T |
A |
11: 72,804,157 (GRCm39) |
L2633Q |
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 |
|
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 |
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'- TACCATTGAGTGACAGCCCTCC -3'
(R):5'- TGACCTACTGTGCTGGGAAC -3'
Sequencing Primer
(F):5'- TCCCCCTTCTAGGTGGAAG -3'
(R):5'- GGAACCATCACTGTACTTATTTGGTG -3'
|
Posted On |
2015-07-21 |