Incidental Mutation 'R6379:Nynrin'
| ID |
515228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nynrin
|
| Ensembl Gene |
ENSMUSG00000075592 |
| Gene Name |
NYN domain and retroviral integrase containing |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6379 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56091572-56112193 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56107848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 985
(L985P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100529]
[ENSMUST00000168479]
|
| AlphaFold |
Q5DTZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100529
AA Change: L985P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098098
Gene: ENSMUSG00000075592
AA Change: L985P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
|
Pfam:RNase_Zc3h12a
|
739 |
890 |
1.6e-54 |
PFAM |
|
low complexity region
|
938 |
952 |
N/A |
INTRINSIC |
|
low complexity region
|
1212 |
1228 |
N/A |
INTRINSIC |
|
low complexity region
|
1390 |
1397 |
N/A |
INTRINSIC |
|
PDB:3S3O|B
|
1478 |
1706 |
6e-8 |
PDB |
|
SCOP:d1cxqa_
|
1552 |
1646 |
2e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168479
AA Change: L985P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129557
Gene: ENSMUSG00000075592
AA Change: L985P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
581 |
606 |
N/A |
INTRINSIC |
|
Pfam:RNase_Zc3h12a
|
739 |
890 |
5.5e-54 |
PFAM |
|
low complexity region
|
938 |
952 |
N/A |
INTRINSIC |
|
low complexity region
|
1212 |
1228 |
N/A |
INTRINSIC |
|
low complexity region
|
1390 |
1397 |
N/A |
INTRINSIC |
|
PDB:3S3O|B
|
1478 |
1706 |
6e-8 |
PDB |
|
SCOP:d1cxqa_
|
1552 |
1646 |
2e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181218
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
T |
2: 152,269,912 (GRCm39) |
R21S |
probably benign |
Het |
| Aadacl4fm1 |
G |
T |
4: 144,248,912 (GRCm39) |
R93L |
probably benign |
Het |
| Adcy5 |
A |
T |
16: 35,114,369 (GRCm39) |
T991S |
probably benign |
Het |
| Aldh18a1 |
A |
T |
19: 40,566,214 (GRCm39) |
|
probably null |
Het |
| Anxa1 |
T |
C |
19: 20,351,079 (GRCm39) |
*347W |
probably null |
Het |
| Aopep |
T |
A |
13: 63,216,057 (GRCm39) |
I443K |
probably damaging |
Het |
| Arid1a |
G |
T |
4: 133,408,238 (GRCm39) |
L2090I |
unknown |
Het |
| Armh3 |
A |
T |
19: 45,910,136 (GRCm39) |
V472D |
possibly damaging |
Het |
| Bambi |
T |
A |
18: 3,512,198 (GRCm39) |
L194Q |
probably damaging |
Het |
| Card9 |
A |
G |
2: 26,246,789 (GRCm39) |
V353A |
probably damaging |
Het |
| Ccdc198 |
T |
A |
14: 49,481,191 (GRCm39) |
I99F |
probably benign |
Het |
| Ccdc60 |
C |
A |
5: 116,269,082 (GRCm39) |
|
probably null |
Het |
| Ccdc71 |
A |
G |
9: 108,340,811 (GRCm39) |
K208R |
possibly damaging |
Het |
| Cdh12 |
T |
C |
15: 21,492,743 (GRCm39) |
V254A |
probably benign |
Het |
| Cep295nl |
T |
A |
11: 118,224,556 (GRCm39) |
N96I |
probably benign |
Het |
| Ces1f |
C |
A |
8: 94,006,279 (GRCm39) |
C17F |
probably benign |
Het |
| Clic6 |
C |
A |
16: 92,336,423 (GRCm39) |
T577K |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 8,012,996 (GRCm39) |
M1019V |
probably benign |
Het |
| Ctnnd2 |
C |
A |
15: 30,634,844 (GRCm39) |
S73Y |
probably damaging |
Het |
| Daam1 |
C |
T |
12: 71,998,712 (GRCm39) |
L556F |
unknown |
Het |
| Dchs2 |
A |
C |
3: 83,262,453 (GRCm39) |
N2907T |
probably damaging |
Het |
| Dlgap3 |
A |
C |
4: 127,128,767 (GRCm39) |
E829A |
probably damaging |
Het |
| Dpysl5 |
A |
T |
5: 30,935,317 (GRCm39) |
|
probably null |
Het |
| Draxin |
C |
A |
4: 148,192,400 (GRCm39) |
C304F |
probably damaging |
Het |
| Eif3j1 |
A |
G |
2: 121,878,005 (GRCm39) |
D131G |
possibly damaging |
Het |
| Fads1 |
T |
C |
19: 10,160,551 (GRCm39) |
Y46H |
probably damaging |
Het |
| Fcgbpl1 |
A |
C |
7: 27,857,017 (GRCm39) |
T2122P |
probably damaging |
Het |
| Figla |
T |
A |
6: 85,995,562 (GRCm39) |
I72K |
probably damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,581,468 (GRCm39) |
S174T |
probably benign |
Het |
| Foxn3 |
C |
A |
12: 99,162,537 (GRCm39) |
A455S |
probably benign |
Het |
| Fyn |
C |
T |
10: 39,331,070 (GRCm39) |
|
probably benign |
Het |
| Gtse1 |
G |
A |
15: 85,748,425 (GRCm39) |
G277S |
probably benign |
Het |
| H2bc15 |
T |
A |
13: 21,938,588 (GRCm39) |
V99E |
probably benign |
Het |
| Icam4 |
C |
A |
9: 20,941,078 (GRCm39) |
A110E |
probably damaging |
Het |
| Itih3 |
G |
A |
14: 30,631,681 (GRCm39) |
S802L |
probably damaging |
Het |
| Kcng4 |
T |
A |
8: 120,360,359 (GRCm39) |
R6* |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,564,339 (GRCm39) |
C977S |
probably damaging |
Het |
| Lrrc8d |
A |
T |
5: 105,960,675 (GRCm39) |
M362L |
probably benign |
Het |
| Mtus2 |
T |
C |
5: 148,014,008 (GRCm39) |
I267T |
probably benign |
Het |
| Nab1 |
A |
G |
1: 52,520,156 (GRCm39) |
V275A |
probably damaging |
Het |
| Nfasc |
G |
A |
1: 132,498,280 (GRCm39) |
Q1308* |
probably null |
Het |
| Nop9 |
T |
C |
14: 55,983,249 (GRCm39) |
S7P |
possibly damaging |
Het |
| Npbwr1 |
G |
T |
1: 5,987,438 (GRCm39) |
N25K |
probably benign |
Het |
| Nptx2 |
T |
C |
5: 144,490,252 (GRCm39) |
L227P |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 33,373,749 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
T |
A |
2: 90,532,753 (GRCm39) |
C571* |
probably null |
Het |
| Obsl1 |
A |
C |
1: 75,479,787 (GRCm39) |
L341R |
probably damaging |
Het |
| Or1r1 |
T |
G |
11: 73,875,099 (GRCm39) |
S112R |
probably damaging |
Het |
| Pate7 |
T |
A |
9: 35,689,381 (GRCm39) |
|
probably benign |
Het |
| Phip |
G |
T |
9: 82,795,910 (GRCm39) |
N570K |
probably damaging |
Het |
| Pigx |
A |
T |
16: 31,903,341 (GRCm39) |
I240N |
probably damaging |
Het |
| Platr25 |
T |
C |
13: 62,854,051 (GRCm39) |
D37G |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,915,555 (GRCm39) |
M639K |
probably benign |
Het |
| Scnn1b |
T |
G |
7: 121,514,551 (GRCm39) |
M441R |
probably benign |
Het |
| Sh3gl1 |
A |
T |
17: 56,326,143 (GRCm39) |
M121K |
probably damaging |
Het |
| Slc30a4 |
A |
T |
2: 122,531,469 (GRCm39) |
V132D |
probably damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,575,155 (GRCm39) |
S42P |
probably benign |
Het |
| Slc66a1 |
G |
A |
4: 139,027,296 (GRCm39) |
L349F |
probably benign |
Het |
| Srp68 |
A |
G |
11: 116,156,227 (GRCm39) |
C172R |
probably damaging |
Het |
| Suz12 |
A |
T |
11: 79,906,014 (GRCm39) |
D292V |
possibly damaging |
Het |
| Sv2b |
A |
T |
7: 74,786,048 (GRCm39) |
D457E |
possibly damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,773 (GRCm39) |
V285A |
probably benign |
Het |
| Tdo2 |
T |
A |
3: 81,866,102 (GRCm39) |
|
probably benign |
Het |
| Them7 |
G |
T |
2: 105,115,031 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
T |
C |
5: 34,660,979 (GRCm39) |
T158A |
probably damaging |
Het |
| Tonsl |
C |
T |
15: 76,513,942 (GRCm39) |
R1209H |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,745,298 (GRCm39) |
L838* |
probably null |
Het |
| Trpm1 |
A |
G |
7: 63,848,942 (GRCm39) |
I63V |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,814,828 (GRCm39) |
N90K |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,077,574 (GRCm39) |
S1433F |
probably damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,275,141 (GRCm39) |
D158G |
probably damaging |
Het |
| Zfhx2 |
T |
A |
14: 55,311,795 (GRCm39) |
T300S |
probably benign |
Het |
| Zscan2 |
T |
A |
7: 80,513,085 (GRCm39) |
D23E |
probably benign |
Het |
|
| Other mutations in Nynrin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01020:Nynrin
|
APN |
14 |
56,105,905 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01131:Nynrin
|
APN |
14 |
56,110,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01357:Nynrin
|
APN |
14 |
56,107,874 (GRCm39) |
missense |
probably benign |
|
|
IGL01537:Nynrin
|
APN |
14 |
56,109,502 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01583:Nynrin
|
APN |
14 |
56,107,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01726:Nynrin
|
APN |
14 |
56,101,611 (GRCm39) |
missense |
probably benign |
|
|
IGL02161:Nynrin
|
APN |
14 |
56,101,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02167:Nynrin
|
APN |
14 |
56,100,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02247:Nynrin
|
APN |
14 |
56,109,167 (GRCm39) |
nonsense |
probably null |
|
|
IGL02302:Nynrin
|
APN |
14 |
56,105,962 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02524:Nynrin
|
APN |
14 |
56,108,931 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02600:Nynrin
|
APN |
14 |
56,101,449 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02639:Nynrin
|
APN |
14 |
56,108,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02654:Nynrin
|
APN |
14 |
56,100,716 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02659:Nynrin
|
APN |
14 |
56,103,554 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02736:Nynrin
|
APN |
14 |
56,108,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02949:Nynrin
|
APN |
14 |
56,109,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4458001:Nynrin
|
UTSW |
14 |
56,101,425 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0017:Nynrin
|
UTSW |
14 |
56,109,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0078:Nynrin
|
UTSW |
14 |
56,100,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Nynrin
|
UTSW |
14 |
56,109,255 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0211:Nynrin
|
UTSW |
14 |
56,109,255 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0413:Nynrin
|
UTSW |
14 |
56,109,648 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0609:Nynrin
|
UTSW |
14 |
56,110,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Nynrin
|
UTSW |
14 |
56,105,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1205:Nynrin
|
UTSW |
14 |
56,091,646 (GRCm39) |
intron |
probably benign |
|
|
R1222:Nynrin
|
UTSW |
14 |
56,100,998 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1385:Nynrin
|
UTSW |
14 |
56,102,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1820:Nynrin
|
UTSW |
14 |
56,107,835 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1829:Nynrin
|
UTSW |
14 |
56,110,404 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1874:Nynrin
|
UTSW |
14 |
56,100,950 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1927:Nynrin
|
UTSW |
14 |
56,101,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2233:Nynrin
|
UTSW |
14 |
56,109,524 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3018:Nynrin
|
UTSW |
14 |
56,100,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3154:Nynrin
|
UTSW |
14 |
56,101,044 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3853:Nynrin
|
UTSW |
14 |
56,101,562 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4648:Nynrin
|
UTSW |
14 |
56,110,351 (GRCm39) |
nonsense |
probably null |
|
|
R4722:Nynrin
|
UTSW |
14 |
56,091,852 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4735:Nynrin
|
UTSW |
14 |
56,107,625 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4736:Nynrin
|
UTSW |
14 |
56,101,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Nynrin
|
UTSW |
14 |
56,100,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Nynrin
|
UTSW |
14 |
56,102,326 (GRCm39) |
missense |
probably benign |
|
|
R4816:Nynrin
|
UTSW |
14 |
56,109,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Nynrin
|
UTSW |
14 |
56,101,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Nynrin
|
UTSW |
14 |
56,105,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5432:Nynrin
|
UTSW |
14 |
56,101,923 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5800:Nynrin
|
UTSW |
14 |
56,108,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Nynrin
|
UTSW |
14 |
56,101,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6149:Nynrin
|
UTSW |
14 |
56,091,780 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6244:Nynrin
|
UTSW |
14 |
56,105,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6350:Nynrin
|
UTSW |
14 |
56,105,533 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6437:Nynrin
|
UTSW |
14 |
56,109,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6501:Nynrin
|
UTSW |
14 |
56,100,989 (GRCm39) |
missense |
probably benign |
|
|
R6702:Nynrin
|
UTSW |
14 |
56,101,935 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6703:Nynrin
|
UTSW |
14 |
56,101,935 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6907:Nynrin
|
UTSW |
14 |
56,101,335 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6908:Nynrin
|
UTSW |
14 |
56,101,335 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6928:Nynrin
|
UTSW |
14 |
56,101,335 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6934:Nynrin
|
UTSW |
14 |
56,101,335 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6935:Nynrin
|
UTSW |
14 |
56,101,335 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7197:Nynrin
|
UTSW |
14 |
56,109,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7204:Nynrin
|
UTSW |
14 |
56,110,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7272:Nynrin
|
UTSW |
14 |
56,107,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7335:Nynrin
|
UTSW |
14 |
56,101,371 (GRCm39) |
missense |
probably benign |
|
|
R7361:Nynrin
|
UTSW |
14 |
56,107,857 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7368:Nynrin
|
UTSW |
14 |
56,107,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7443:Nynrin
|
UTSW |
14 |
56,108,873 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7584:Nynrin
|
UTSW |
14 |
56,109,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7677:Nynrin
|
UTSW |
14 |
56,107,693 (GRCm39) |
missense |
probably benign |
|
|
R7723:Nynrin
|
UTSW |
14 |
56,109,502 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7776:Nynrin
|
UTSW |
14 |
56,103,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Nynrin
|
UTSW |
14 |
56,107,980 (GRCm39) |
missense |
probably benign |
|
|
R7842:Nynrin
|
UTSW |
14 |
56,102,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Nynrin
|
UTSW |
14 |
56,108,886 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8040:Nynrin
|
UTSW |
14 |
56,108,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8159:Nynrin
|
UTSW |
14 |
56,102,517 (GRCm39) |
missense |
probably benign |
|
|
R8159:Nynrin
|
UTSW |
14 |
56,100,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8258:Nynrin
|
UTSW |
14 |
56,100,815 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8259:Nynrin
|
UTSW |
14 |
56,100,815 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8343:Nynrin
|
UTSW |
14 |
56,101,248 (GRCm39) |
missense |
probably benign |
|
|
R8504:Nynrin
|
UTSW |
14 |
56,107,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8671:Nynrin
|
UTSW |
14 |
56,107,899 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8691:Nynrin
|
UTSW |
14 |
56,110,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777:Nynrin
|
UTSW |
14 |
56,109,120 (GRCm39) |
missense |
probably benign |
|
|
R8777-TAIL:Nynrin
|
UTSW |
14 |
56,109,120 (GRCm39) |
missense |
probably benign |
|
|
R9041:Nynrin
|
UTSW |
14 |
56,108,753 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9346:Nynrin
|
UTSW |
14 |
56,100,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9366:Nynrin
|
UTSW |
14 |
56,100,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9690:Nynrin
|
UTSW |
14 |
56,108,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF007:Nynrin
|
UTSW |
14 |
56,103,658 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGAACTGAGTGATGACGC -3'
(R):5'- AGAGATAACATCCCGGTGGG -3'
Sequencing Primer
(F):5'- ACTGAGTGATGACGCTGACGC -3'
(R):5'- GTGGGAATCCATGAAGCCC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation