Incidental Mutation 'R1216:Nrde2'
ID |
99663 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrde2
|
Ensembl Gene |
ENSMUSG00000021179 |
Gene Name |
nrde-2 necessary for RNA interference, domain containing |
Synonyms |
BC002230, 6720454P05Rik |
MMRRC Submission |
039285-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1216 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
100091711-100125912 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 100116069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021596]
[ENSMUST00000221954]
|
AlphaFold |
Q80XC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021596
|
SMART Domains |
Protein: ENSMUSP00000021596 Gene: ENSMUSG00000021179
Domain | Start | End | E-Value | Type |
low complexity region
|
85 |
107 |
N/A |
INTRINSIC |
low complexity region
|
146 |
154 |
N/A |
INTRINSIC |
Pfam:NRDE-2
|
318 |
658 |
1.2e-107 |
PFAM |
Blast:HAT
|
765 |
800 |
2e-10 |
BLAST |
Blast:HAT
|
802 |
841 |
3e-16 |
BLAST |
Blast:HAT
|
986 |
1018 |
3e-10 |
BLAST |
Blast:HAT
|
1075 |
1109 |
1e-14 |
BLAST |
Blast:HAT
|
1111 |
1143 |
8e-15 |
BLAST |
low complexity region
|
1154 |
1171 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221954
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
T |
1: 11,868,716 (GRCm39) |
D332V |
probably damaging |
Het |
Akr1c12 |
T |
C |
13: 4,326,322 (GRCm39) |
Y53C |
probably benign |
Het |
Arhgap23 |
T |
C |
11: 97,383,498 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
C |
4: 126,710,276 (GRCm39) |
|
probably benign |
Het |
B4galnt2 |
A |
G |
11: 95,782,767 (GRCm39) |
L15P |
probably benign |
Het |
Cadps2 |
A |
G |
6: 23,583,472 (GRCm39) |
|
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dppa4 |
T |
C |
16: 48,113,343 (GRCm39) |
F244S |
possibly damaging |
Het |
Exoc1 |
A |
G |
5: 76,702,035 (GRCm39) |
K445R |
probably benign |
Het |
Fam47e |
A |
G |
5: 92,710,343 (GRCm39) |
E114G |
probably damaging |
Het |
Fgf12 |
A |
T |
16: 27,981,202 (GRCm39) |
N171K |
possibly damaging |
Het |
Fyb2 |
G |
A |
4: 104,852,903 (GRCm39) |
V528M |
possibly damaging |
Het |
Ghr |
A |
G |
15: 3,349,337 (GRCm39) |
S614P |
probably damaging |
Het |
Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
Gpr152 |
T |
A |
19: 4,193,554 (GRCm39) |
V365D |
possibly damaging |
Het |
Guca1a |
A |
G |
17: 47,706,637 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
G |
A |
13: 42,310,997 (GRCm39) |
G1079D |
probably benign |
Het |
Hnrnpm |
T |
C |
17: 33,868,687 (GRCm39) |
D580G |
probably damaging |
Het |
Ints6 |
A |
T |
14: 62,945,147 (GRCm39) |
D394E |
probably damaging |
Het |
Kat6b |
T |
A |
14: 21,672,108 (GRCm39) |
Y339* |
probably null |
Het |
Kcnj11 |
C |
A |
7: 45,749,285 (GRCm39) |
V13L |
probably benign |
Het |
Lama3 |
C |
T |
18: 12,554,191 (GRCm39) |
|
probably benign |
Het |
Mtrex |
A |
G |
13: 113,050,876 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,709,473 (GRCm39) |
T161A |
probably benign |
Het |
Ncapg |
G |
T |
5: 45,857,261 (GRCm39) |
S991I |
possibly damaging |
Het |
Or4c127 |
T |
A |
2: 89,832,822 (GRCm39) |
I24N |
probably benign |
Het |
Or5d18 |
T |
C |
2: 87,864,602 (GRCm39) |
R294G |
probably damaging |
Het |
Pcdhb7 |
A |
T |
18: 37,476,927 (GRCm39) |
T688S |
probably damaging |
Het |
Pla2g6 |
T |
C |
15: 79,190,635 (GRCm39) |
D309G |
probably benign |
Het |
Plod1 |
A |
T |
4: 148,005,584 (GRCm39) |
V404D |
probably damaging |
Het |
Ppp2r2a |
G |
T |
14: 67,266,447 (GRCm39) |
Y71* |
probably null |
Het |
Prcp |
A |
G |
7: 92,566,954 (GRCm39) |
N222S |
probably benign |
Het |
Rad21 |
T |
C |
15: 51,833,532 (GRCm39) |
T316A |
possibly damaging |
Het |
Ranbp2 |
T |
C |
10: 58,319,034 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
C |
A |
2: 72,038,492 (GRCm39) |
P548T |
possibly damaging |
Het |
Ric1 |
G |
T |
19: 29,555,135 (GRCm39) |
M416I |
probably benign |
Het |
Slc9a8 |
T |
C |
2: 167,266,041 (GRCm39) |
F6S |
probably benign |
Het |
Smpdl3a |
T |
G |
10: 57,678,575 (GRCm39) |
I126S |
probably null |
Het |
Sphkap |
A |
T |
1: 83,268,698 (GRCm39) |
L98Q |
probably damaging |
Het |
Spink4 |
T |
G |
4: 40,924,974 (GRCm39) |
|
probably benign |
Het |
Taar5 |
A |
T |
10: 23,847,605 (GRCm39) |
L334F |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,289,203 (GRCm39) |
I454K |
probably benign |
Het |
Ttc7 |
C |
T |
17: 87,654,006 (GRCm39) |
T561M |
possibly damaging |
Het |
Vmn2r9 |
G |
T |
5: 108,995,440 (GRCm39) |
H403N |
probably damaging |
Het |
Zdbf2 |
G |
A |
1: 63,342,161 (GRCm39) |
C180Y |
possibly damaging |
Het |
|
Other mutations in Nrde2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02207:Nrde2
|
APN |
12 |
100,097,190 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02697:Nrde2
|
APN |
12 |
100,097,466 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02798:Nrde2
|
APN |
12 |
100,110,081 (GRCm39) |
nonsense |
probably null |
|
IGL02810:Nrde2
|
APN |
12 |
100,110,017 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02814:Nrde2
|
APN |
12 |
100,110,394 (GRCm39) |
missense |
probably null |
0.80 |
IGL02990:Nrde2
|
APN |
12 |
100,108,355 (GRCm39) |
missense |
probably damaging |
1.00 |
kurtz
|
UTSW |
12 |
100,100,664 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0090:Nrde2
|
UTSW |
12 |
100,095,545 (GRCm39) |
splice site |
probably benign |
|
R0576:Nrde2
|
UTSW |
12 |
100,098,492 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0646:Nrde2
|
UTSW |
12 |
100,110,105 (GRCm39) |
nonsense |
probably null |
|
R1130:Nrde2
|
UTSW |
12 |
100,091,929 (GRCm39) |
missense |
probably damaging |
0.97 |
R1661:Nrde2
|
UTSW |
12 |
100,116,119 (GRCm39) |
missense |
probably benign |
0.19 |
R2069:Nrde2
|
UTSW |
12 |
100,108,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R4405:Nrde2
|
UTSW |
12 |
100,096,843 (GRCm39) |
missense |
probably benign |
0.01 |
R4422:Nrde2
|
UTSW |
12 |
100,112,286 (GRCm39) |
nonsense |
probably null |
|
R5169:Nrde2
|
UTSW |
12 |
100,095,552 (GRCm39) |
critical splice donor site |
probably null |
|
R5200:Nrde2
|
UTSW |
12 |
100,096,756 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5338:Nrde2
|
UTSW |
12 |
100,097,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R5512:Nrde2
|
UTSW |
12 |
100,108,509 (GRCm39) |
missense |
probably benign |
0.20 |
R5820:Nrde2
|
UTSW |
12 |
100,098,546 (GRCm39) |
missense |
probably benign |
0.00 |
R6019:Nrde2
|
UTSW |
12 |
100,098,501 (GRCm39) |
missense |
probably benign |
0.04 |
R6346:Nrde2
|
UTSW |
12 |
100,098,565 (GRCm39) |
missense |
probably benign |
0.01 |
R6378:Nrde2
|
UTSW |
12 |
100,097,016 (GRCm39) |
missense |
probably damaging |
0.99 |
R6479:Nrde2
|
UTSW |
12 |
100,110,207 (GRCm39) |
missense |
probably benign |
0.00 |
R6523:Nrde2
|
UTSW |
12 |
100,100,664 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7073:Nrde2
|
UTSW |
12 |
100,098,747 (GRCm39) |
missense |
probably benign |
0.00 |
R7220:Nrde2
|
UTSW |
12 |
100,097,178 (GRCm39) |
missense |
probably benign |
0.05 |
R7412:Nrde2
|
UTSW |
12 |
100,108,509 (GRCm39) |
nonsense |
probably null |
|
R7505:Nrde2
|
UTSW |
12 |
100,098,757 (GRCm39) |
missense |
probably benign |
0.15 |
R7699:Nrde2
|
UTSW |
12 |
100,097,094 (GRCm39) |
missense |
probably benign |
0.16 |
R7700:Nrde2
|
UTSW |
12 |
100,097,094 (GRCm39) |
missense |
probably benign |
0.16 |
R7733:Nrde2
|
UTSW |
12 |
100,110,399 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7868:Nrde2
|
UTSW |
12 |
100,097,446 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7963:Nrde2
|
UTSW |
12 |
100,116,127 (GRCm39) |
missense |
probably damaging |
0.99 |
R8131:Nrde2
|
UTSW |
12 |
100,108,502 (GRCm39) |
missense |
probably benign |
0.02 |
R8213:Nrde2
|
UTSW |
12 |
100,097,262 (GRCm39) |
missense |
probably benign |
|
R9061:Nrde2
|
UTSW |
12 |
100,110,123 (GRCm39) |
missense |
probably benign |
0.00 |
R9142:Nrde2
|
UTSW |
12 |
100,117,518 (GRCm39) |
missense |
probably benign |
0.15 |
R9371:Nrde2
|
UTSW |
12 |
100,092,477 (GRCm39) |
missense |
probably benign |
0.09 |
R9412:Nrde2
|
UTSW |
12 |
100,096,681 (GRCm39) |
nonsense |
probably null |
|
R9468:Nrde2
|
UTSW |
12 |
100,106,268 (GRCm39) |
missense |
probably benign |
0.00 |
R9542:Nrde2
|
UTSW |
12 |
100,110,426 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATGTGCCGTCTCCCAGAATCAG -3'
(R):5'- TCTCAGGTGAGAGCAACACTAGCG -3'
Sequencing Primer
(F):5'- cacaccaacaatcctagcac -3'
(R):5'- CAAGCAGgaagaagaagaaggag -3'
|
Posted On |
2014-01-15 |