Incidental Mutation 'R4471:Nktr'
| ID |
329442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nktr
|
| Ensembl Gene |
ENSMUSG00000032525 |
| Gene Name |
natural killer tumor recognition sequence |
| Synonyms |
5330401F18Rik, D9Wsu172e |
| MMRRC Submission |
041728-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.541)
|
| Stock # |
R4471 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121719169-121756843 bp(+) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 121748896 bp (GRCm38)
|
| 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 |
|---|
| 4930452B06Rik |
A |
G |
14: 8,536,571 (GRCm38) |
L212P |
probably damaging |
Het |
| AF067061 |
G |
T |
13: 120,264,043 (GRCm38) |
R81L |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,679,526 (GRCm38) |
S943P |
probably damaging |
Het |
| Ankdd1a |
T |
C |
9: 65,503,509 (GRCm38) |
D398G |
probably damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,476,214 (GRCm38) |
K49M |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,343,724 (GRCm38) |
|
probably null |
Het |
| Cdc34b |
A |
G |
11: 94,742,238 (GRCm38) |
E88G |
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,774,476 (GRCm38) |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,474,600 (GRCm38) |
N210I |
possibly damaging |
Het |
| Celf3 |
A |
G |
3: 94,488,278 (GRCm38) |
|
probably null |
Het |
| Cmya5 |
A |
T |
13: 93,092,325 (GRCm38) |
M2085K |
probably benign |
Het |
| Cpne6 |
G |
A |
14: 55,516,632 (GRCm38) |
V469M |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 96,133,069 (GRCm38) |
V100A |
probably benign |
Het |
| Diexf |
C |
T |
1: 193,130,137 (GRCm38) |
R5Q |
possibly damaging |
Het |
| Dnajb4 |
A |
T |
3: 152,185,162 (GRCm38) |
H333Q |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,940,946 (GRCm38) |
V316A |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,506,635 (GRCm38) |
|
probably benign |
Het |
| Ern1 |
C |
A |
11: 106,420,042 (GRCm38) |
V302L |
possibly damaging |
Het |
| Fam110b |
A |
T |
4: 5,799,092 (GRCm38) |
H170L |
probably benign |
Het |
| Fn3krp |
T |
G |
11: 121,426,673 (GRCm38) |
D146E |
probably benign |
Het |
| Git1 |
A |
G |
11: 77,499,824 (GRCm38) |
T129A |
probably benign |
Het |
| Glrp1 |
T |
A |
1: 88,503,474 (GRCm38) |
Q58L |
unknown |
Het |
| Gpatch2 |
A |
G |
1: 187,233,140 (GRCm38) |
E281G |
probably damaging |
Het |
| Hipk2 |
T |
A |
6: 38,736,922 (GRCm38) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 110,587,132 (GRCm38) |
N4214S |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 21,035,506 (GRCm38) |
C443* |
probably null |
Het |
| Impdh1 |
G |
A |
6: 29,204,632 (GRCm38) |
Q307* |
probably null |
Het |
| Ivns1abp |
C |
T |
1: 151,361,239 (GRCm38) |
T447M |
probably benign |
Het |
| Lman1 |
A |
T |
18: 65,991,726 (GRCm38) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,668,860 (GRCm38) |
E306G |
probably benign |
Het |
| Msc |
G |
C |
1: 14,755,678 (GRCm38) |
P24R |
probably damaging |
Het |
| Mtif2 |
T |
C |
11: 29,540,053 (GRCm38) |
|
probably benign |
Het |
| Mvp |
C |
T |
7: 127,001,958 (GRCm38) |
M1I |
probably null |
Het |
| Myh7 |
A |
T |
14: 54,991,854 (GRCm38) |
Y162* |
probably null |
Het |
| Nemf |
G |
A |
12: 69,314,442 (GRCm38) |
H956Y |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,204,741 (GRCm38) |
S276P |
probably damaging |
Het |
| Olfr26 |
T |
C |
9: 38,855,631 (GRCm38) |
S190P |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,535,579 (GRCm38) |
K621E |
probably damaging |
Het |
| Prss2 |
A |
G |
6: 41,522,846 (GRCm38) |
I24V |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,582,820 (GRCm38) |
|
probably benign |
Het |
| Rest |
T |
C |
5: 77,281,180 (GRCm38) |
V482A |
probably benign |
Het |
| Rexo1 |
A |
T |
10: 80,542,658 (GRCm38) |
S476T |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,860,446 (GRCm38) |
T354I |
probably benign |
Het |
| Slc16a3 |
T |
C |
11: 120,955,948 (GRCm38) |
|
probably benign |
Het |
| Slc5a4b |
G |
A |
10: 76,058,891 (GRCm38) |
Q594* |
probably null |
Het |
| Slk |
T |
G |
19: 47,615,423 (GRCm38) |
V202G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,619,877 (GRCm38) |
V53D |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,238,753 (GRCm38) |
V2036E |
probably benign |
Het |
| Sox5 |
A |
G |
6: 143,844,765 (GRCm38) |
M523T |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 118,436,817 (GRCm38) |
|
probably null |
Het |
| Taf2 |
T |
C |
15: 55,058,880 (GRCm38) |
D337G |
possibly damaging |
Het |
| Tecrl |
A |
G |
5: 83,313,287 (GRCm38) |
Y108H |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,551,018 (GRCm38) |
F409L |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,487,301 (GRCm38) |
L6S |
unknown |
Het |
| Ttc23 |
G |
A |
7: 67,670,156 (GRCm38) |
R187Q |
probably benign |
Het |
| Ttl |
T |
C |
2: 129,082,057 (GRCm38) |
V230A |
probably benign |
Het |
| Ube2u |
G |
A |
4: 100,481,646 (GRCm38) |
W36* |
probably null |
Het |
| Ube4a |
A |
T |
9: 44,946,532 (GRCm38) |
|
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,789,357 (GRCm38) |
R691Q |
probably benign |
Het |
| Unc45a |
A |
G |
7: 80,332,980 (GRCm38) |
I399T |
possibly damaging |
Het |
| Wdr59 |
A |
C |
8: 111,466,787 (GRCm38) |
|
probably null |
Het |
| Zfp24 |
A |
G |
18: 24,018,115 (GRCm38) |
|
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,042,107 (GRCm38) |
W342R |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,613,456 (GRCm38) |
C265* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,913,331 (GRCm38) |
L2633Q |
probably damaging |
Het |
|
| Other mutations in Nktr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Nktr
|
APN |
9 |
121,731,564 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01402:Nktr
|
APN |
9 |
121,741,152 (GRCm38) |
splice site |
probably null |
|
|
IGL01404:Nktr
|
APN |
9 |
121,741,152 (GRCm38) |
splice site |
probably null |
|
|
IGL02945:Nktr
|
APN |
9 |
121,728,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03334:Nktr
|
APN |
9 |
121,748,176 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03134:Nktr
|
UTSW |
9 |
121,746,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Nktr
|
UTSW |
9 |
121,741,621 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0010:Nktr
|
UTSW |
9 |
121,741,166 (GRCm38) |
splice site |
probably benign |
|
|
R0158:Nktr
|
UTSW |
9 |
121,750,691 (GRCm38) |
unclassified |
probably benign |
|
|
R0399:Nktr
|
UTSW |
9 |
121,731,484 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0503:Nktr
|
UTSW |
9 |
121,750,740 (GRCm38) |
unclassified |
probably benign |
|
|
R0585:Nktr
|
UTSW |
9 |
121,754,280 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0606:Nktr
|
UTSW |
9 |
121,749,290 (GRCm38) |
unclassified |
probably benign |
|
|
R1248:Nktr
|
UTSW |
9 |
121,727,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1899:Nktr
|
UTSW |
9 |
121,748,866 (GRCm38) |
unclassified |
probably benign |
|
|
R1912:Nktr
|
UTSW |
9 |
121,750,240 (GRCm38) |
unclassified |
probably benign |
|
|
R2049:Nktr
|
UTSW |
9 |
121,741,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2279:Nktr
|
UTSW |
9 |
121,731,537 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2912:Nktr
|
UTSW |
9 |
121,749,604 (GRCm38) |
unclassified |
probably benign |
|
|
R2913:Nktr
|
UTSW |
9 |
121,749,604 (GRCm38) |
unclassified |
probably benign |
|
|
R2914:Nktr
|
UTSW |
9 |
121,749,604 (GRCm38) |
unclassified |
probably benign |
|
|
R3939:Nktr
|
UTSW |
9 |
121,749,069 (GRCm38) |
unclassified |
probably benign |
|
|
R4080:Nktr
|
UTSW |
9 |
121,741,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4472:Nktr
|
UTSW |
9 |
121,748,896 (GRCm38) |
unclassified |
probably benign |
|
|
R4506:Nktr
|
UTSW |
9 |
121,748,883 (GRCm38) |
unclassified |
probably benign |
|
|
R4556:Nktr
|
UTSW |
9 |
121,741,123 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4736:Nktr
|
UTSW |
9 |
121,749,739 (GRCm38) |
unclassified |
probably benign |
|
|
R4749:Nktr
|
UTSW |
9 |
121,741,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4943:Nktr
|
UTSW |
9 |
121,719,954 (GRCm38) |
intron |
probably benign |
|
|
R5084:Nktr
|
UTSW |
9 |
121,748,110 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5250:Nktr
|
UTSW |
9 |
121,749,792 (GRCm38) |
unclassified |
probably benign |
|
|
R5288:Nktr
|
UTSW |
9 |
121,748,593 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5324:Nktr
|
UTSW |
9 |
121,727,346 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5330:Nktr
|
UTSW |
9 |
121,752,768 (GRCm38) |
intron |
probably benign |
|
|
R5331:Nktr
|
UTSW |
9 |
121,752,768 (GRCm38) |
intron |
probably benign |
|
|
R5502:Nktr
|
UTSW |
9 |
121,748,606 (GRCm38) |
unclassified |
probably benign |
|
|
R5587:Nktr
|
UTSW |
9 |
121,748,489 (GRCm38) |
unclassified |
probably benign |
|
|
R5664:Nktr
|
UTSW |
9 |
121,749,417 (GRCm38) |
nonsense |
probably null |
|
|
R6005:Nktr
|
UTSW |
9 |
121,748,394 (GRCm38) |
unclassified |
probably benign |
|
|
R6057:Nktr
|
UTSW |
9 |
121,748,389 (GRCm38) |
unclassified |
probably benign |
|
|
R6083:Nktr
|
UTSW |
9 |
121,750,136 (GRCm38) |
unclassified |
probably benign |
|
|
R6274:Nktr
|
UTSW |
9 |
121,731,565 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6445:Nktr
|
UTSW |
9 |
121,748,414 (GRCm38) |
unclassified |
probably benign |
|
|
R6467:Nktr
|
UTSW |
9 |
121,731,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6911:Nktr
|
UTSW |
9 |
121,754,326 (GRCm38) |
nonsense |
probably null |
|
|
R6960:Nktr
|
UTSW |
9 |
121,742,692 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7226:Nktr
|
UTSW |
9 |
121,746,533 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7324:Nktr
|
UTSW |
9 |
121,748,291 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R7324:Nktr
|
UTSW |
9 |
121,727,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7451:Nktr
|
UTSW |
9 |
121,729,656 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7464:Nktr
|
UTSW |
9 |
121,750,327 (GRCm38) |
missense |
unknown |
|
|
R7537:Nktr
|
UTSW |
9 |
121,749,279 (GRCm38) |
missense |
unknown |
|
|
R8126:Nktr
|
UTSW |
9 |
121,746,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8163:Nktr
|
UTSW |
9 |
121,750,863 (GRCm38) |
unclassified |
probably benign |
|
|
R8812:Nktr
|
UTSW |
9 |
121,750,251 (GRCm38) |
missense |
unknown |
|
|
R8829:Nktr
|
UTSW |
9 |
121,754,264 (GRCm38) |
missense |
unknown |
|
|
R8945:Nktr
|
UTSW |
9 |
121,746,492 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R9158:Nktr
|
UTSW |
9 |
121,753,088 (GRCm38) |
missense |
unknown |
|
|
R9252:Nktr
|
UTSW |
9 |
121,750,349 (GRCm38) |
missense |
unknown |
|
|
R9378:Nktr
|
UTSW |
9 |
121,748,198 (GRCm38) |
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 |
Incidental Mutation