Incidental Mutation 'R5200:Nrde2'
| ID |
400716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrde2
|
| Ensembl Gene |
ENSMUSG00000021179 |
| Gene Name |
nrde-2 necessary for RNA interference, domain containing |
| Synonyms |
BC002230, 6720454P05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
100091711-100125912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100096756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1015
(I1015F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021596]
|
| AlphaFold |
Q80XC6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021596
AA Change: I1015F
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000021596
Gene: ENSMUSG00000021179
AA Change: I1015F
| 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 |
noncoding transcript
Transcript: ENSMUST00000223314
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
C |
5: 4,010,734 (GRCm39) |
V497A |
probably benign |
Het |
| Alx3 |
T |
C |
3: 107,507,980 (GRCm39) |
F163S |
possibly damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,798,014 (GRCm39) |
R997G |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,702,604 (GRCm39) |
S848P |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,891,156 (GRCm39) |
I810V |
probably benign |
Het |
| C1ql4 |
T |
G |
15: 98,982,718 (GRCm39) |
I212L |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,475,387 (GRCm39) |
Y443C |
probably benign |
Het |
| Cfap45 |
C |
T |
1: 172,372,696 (GRCm39) |
Q464* |
probably null |
Het |
| Clcn3 |
T |
C |
8: 61,376,039 (GRCm39) |
K618R |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnaaf4 |
T |
C |
9: 72,879,713 (GRCm39) |
S418P |
probably damaging |
Het |
| H2-M10.2 |
T |
G |
17: 36,595,641 (GRCm39) |
R216S |
probably benign |
Het |
| Hook1 |
A |
G |
4: 95,881,367 (GRCm39) |
D113G |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,897,340 (GRCm39) |
E914G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,248,059 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
T |
6: 146,045,605 (GRCm39) |
|
probably null |
Het |
| Myo6 |
C |
T |
9: 80,183,656 (GRCm39) |
Q684* |
probably null |
Het |
| Or12e9 |
T |
A |
2: 87,202,446 (GRCm39) |
V190E |
probably damaging |
Het |
| Or2d4 |
G |
A |
7: 106,544,187 (GRCm39) |
T7I |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,074,076 (GRCm39) |
N210I |
probably damaging |
Het |
| Pax4 |
G |
A |
6: 28,445,138 (GRCm39) |
P179L |
probably damaging |
Het |
| Pcx |
G |
A |
19: 4,668,532 (GRCm39) |
D656N |
probably damaging |
Het |
| Pms1 |
T |
A |
1: 53,245,916 (GRCm39) |
H541L |
probably benign |
Het |
| Pten |
C |
T |
19: 32,777,291 (GRCm39) |
P95L |
probably damaging |
Het |
| Rsrc2 |
G |
A |
5: 123,877,562 (GRCm39) |
R140* |
probably null |
Het |
| Shc3 |
T |
C |
13: 51,670,601 (GRCm39) |
M49V |
probably damaging |
Het |
| Snap91 |
C |
G |
9: 86,697,497 (GRCm39) |
K288N |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,970,787 (GRCm39) |
Q1324* |
probably null |
Het |
| Tasor |
A |
G |
14: 27,151,183 (GRCm39) |
E53G |
probably benign |
Het |
| Tfr2 |
A |
G |
5: 137,569,242 (GRCm39) |
|
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,114,803 (GRCm39) |
I99K |
probably damaging |
Het |
| Tmem38a |
T |
A |
8: 73,333,878 (GRCm39) |
V119E |
probably damaging |
Het |
| Tmtc4 |
T |
G |
14: 123,182,969 (GRCm39) |
D243A |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,889,515 (GRCm39) |
S1755T |
probably damaging |
Het |
| Trim67 |
T |
C |
8: 125,551,589 (GRCm39) |
S590P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,590,287 (GRCm39) |
T12814S |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,923 (GRCm39) |
S708T |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,717 (GRCm39) |
F807Y |
probably damaging |
Het |
| Vmn2r97 |
C |
T |
17: 19,148,615 (GRCm39) |
P170L |
probably damaging |
Het |
| Zfp612 |
C |
T |
8: 110,816,532 (GRCm39) |
Q580* |
probably null |
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 |
|
R1216:Nrde2
|
UTSW |
12 |
100,116,069 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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'- CCCTCCCTTTAAGGTCTGTGAAG -3'
(R):5'- CTCTGCTCGCTTAGAAGACC -3'
Sequencing Primer
(F):5'- TAAGGTCTGTGAAGCCCATGC -3'
(R):5'- TCGCTTAGAAGACCCAGGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation