Incidental Mutation 'R4405:Nrde2'
ID |
327633 |
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 |
041134-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4405 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
100091711-100125912 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100096843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 986
(Y986H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021596]
|
AlphaFold |
Q80XC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021596
AA Change: Y986H
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000021596 Gene: ENSMUSG00000021179 AA Change: Y986H
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg3 |
C |
T |
8: 95,763,536 (GRCm39) |
A279V |
probably benign |
Het |
Aggf1 |
G |
A |
13: 95,508,102 (GRCm39) |
P88L |
probably benign |
Het |
Asb18 |
T |
C |
1: 89,896,411 (GRCm39) |
T210A |
probably benign |
Het |
Cd8b1 |
C |
T |
6: 71,303,006 (GRCm39) |
S27L |
possibly damaging |
Het |
Cfap43 |
C |
T |
19: 47,728,236 (GRCm39) |
S1507N |
possibly damaging |
Het |
Col12a1 |
A |
T |
9: 79,547,247 (GRCm39) |
|
probably null |
Het |
Col19a1 |
G |
A |
1: 24,573,190 (GRCm39) |
T194M |
unknown |
Het |
Cpb1 |
T |
A |
3: 20,317,733 (GRCm39) |
T237S |
probably benign |
Het |
Cubn |
G |
A |
2: 13,470,841 (GRCm39) |
T517M |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,106,274 (GRCm39) |
N1769S |
probably benign |
Het |
Dnm1 |
A |
G |
2: 32,225,984 (GRCm39) |
I365T |
probably damaging |
Het |
E2f5 |
T |
A |
3: 14,668,823 (GRCm39) |
D238E |
probably benign |
Het |
Etv6 |
A |
G |
6: 134,210,497 (GRCm39) |
E115G |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Gapvd1 |
C |
T |
2: 34,618,747 (GRCm39) |
V209I |
probably damaging |
Het |
Gbp8 |
G |
A |
5: 105,198,928 (GRCm39) |
|
probably benign |
Het |
Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
Grb14 |
T |
C |
2: 64,783,966 (GRCm39) |
N54D |
probably damaging |
Het |
Gucy2g |
A |
T |
19: 55,226,269 (GRCm39) |
F216I |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,820,225 (GRCm39) |
L2849Q |
probably damaging |
Het |
Hsd17b4 |
G |
T |
18: 50,261,381 (GRCm39) |
|
probably benign |
Het |
Igkv9-129 |
T |
A |
6: 67,816,784 (GRCm39) |
M3K |
probably damaging |
Het |
Iqcd |
A |
T |
5: 120,740,485 (GRCm39) |
E272V |
probably damaging |
Het |
Itih2 |
A |
T |
2: 10,111,548 (GRCm39) |
Y463* |
probably null |
Het |
Kcna10 |
G |
A |
3: 107,102,781 (GRCm39) |
E471K |
possibly damaging |
Het |
Klf3 |
A |
T |
5: 64,986,347 (GRCm39) |
E294V |
possibly damaging |
Het |
Lancl1 |
A |
T |
1: 67,060,015 (GRCm39) |
|
probably null |
Het |
Ldaf1 |
T |
G |
7: 119,714,714 (GRCm39) |
F68V |
probably damaging |
Het |
Lrig3 |
T |
C |
10: 125,846,877 (GRCm39) |
F882L |
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,046,367 (GRCm39) |
N474S |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,922,444 (GRCm39) |
|
probably null |
Het |
Mast1 |
C |
A |
8: 85,647,520 (GRCm39) |
W572C |
probably damaging |
Het |
Mbd4 |
T |
A |
6: 115,826,076 (GRCm39) |
Q305L |
possibly damaging |
Het |
Mbl2 |
T |
A |
19: 30,216,916 (GRCm39) |
S243T |
probably benign |
Het |
Mcph1 |
C |
T |
8: 18,682,557 (GRCm39) |
P565S |
probably benign |
Het |
Mfsd1 |
G |
C |
3: 67,507,943 (GRCm39) |
V435L |
probably benign |
Het |
Mycbp2 |
C |
T |
14: 103,360,881 (GRCm39) |
G1183D |
probably damaging |
Het |
Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
Noa1 |
A |
T |
5: 77,454,219 (GRCm39) |
S474T |
probably benign |
Het |
Oca2 |
G |
T |
7: 56,064,182 (GRCm39) |
V726F |
possibly damaging |
Het |
Or2ag13 |
T |
A |
7: 106,472,580 (GRCm39) |
S291C |
probably damaging |
Het |
Or7a41 |
A |
T |
10: 78,871,244 (GRCm39) |
M205L |
probably benign |
Het |
Pip5k1a |
A |
G |
3: 94,975,370 (GRCm39) |
|
probably null |
Het |
Plekhn1 |
A |
T |
4: 156,309,730 (GRCm39) |
|
probably null |
Het |
Sec61a2 |
T |
C |
2: 5,887,670 (GRCm39) |
D104G |
probably benign |
Het |
Skic3 |
A |
T |
13: 76,303,784 (GRCm39) |
Y1234F |
probably damaging |
Het |
Slc25a36 |
T |
C |
9: 96,967,171 (GRCm39) |
T131A |
probably benign |
Het |
Slc5a11 |
A |
T |
7: 122,857,700 (GRCm39) |
D263V |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,384,189 (GRCm39) |
I35V |
probably benign |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Tbc1d1 |
T |
C |
5: 64,331,013 (GRCm39) |
V64A |
possibly damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vmn1r20 |
A |
G |
6: 57,409,042 (GRCm39) |
M123V |
probably benign |
Het |
Zwint |
T |
C |
10: 72,492,095 (GRCm39) |
L59P |
probably 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 |
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 |
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'- TTCGATTGCAAATAGCCAAGGC -3'
(R):5'- TGGTCCGATGCTTTATGCTC -3'
Sequencing Primer
(F):5'- GCCAAGGCTCCAAATGTTTG -3'
(R):5'- GATGCTTTATGCTCTTCCAGTATTTG -3'
|
Posted On |
2015-07-07 |