Incidental Mutation 'R1130:Nrde2'
| ID |
98047 |
| 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 |
039203-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1130 (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 T
at 100091929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1152
(M1152K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021595]
[ENSMUST00000021596]
|
| AlphaFold |
Q80XC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021595
|
| SMART Domains |
Protein: ENSMUSP00000021595
Gene: ENSMUSG00000021178
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
43 |
N/A |
INTRINSIC |
|
AAA
|
218 |
357 |
1.57e-23 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021596
AA Change: M1152K
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000021596
Gene: ENSMUSG00000021179
AA Change: M1152K
| 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: ENSMUST00000221308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223314
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
T |
15: 81,943,561 (GRCm39) |
H58Y |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Armc2 |
T |
C |
10: 41,887,830 (GRCm39) |
D51G |
possibly damaging |
Het |
| Aspm |
A |
T |
1: 139,405,572 (GRCm39) |
K1486N |
possibly damaging |
Het |
| Aurka |
A |
T |
2: 172,199,178 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
C |
1: 172,373,264 (GRCm39) |
Y534H |
probably damaging |
Het |
| Cldn20 |
T |
C |
17: 3,583,243 (GRCm39) |
Y139H |
probably damaging |
Het |
| Defb19 |
C |
A |
2: 152,418,109 (GRCm39) |
E76* |
probably null |
Het |
| Fcho2 |
A |
T |
13: 98,884,797 (GRCm39) |
D423E |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,834,865 (GRCm39) |
|
probably null |
Het |
| Gaa |
C |
T |
11: 119,165,509 (GRCm39) |
T333M |
probably damaging |
Het |
| Gm9945 |
T |
A |
11: 53,371,345 (GRCm39) |
|
probably benign |
Het |
| Gml2 |
G |
A |
15: 74,693,195 (GRCm39) |
C66Y |
probably damaging |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Kcnh2 |
G |
A |
5: 24,536,823 (GRCm39) |
R254* |
probably null |
Het |
| Megf10 |
T |
C |
18: 57,395,078 (GRCm39) |
V480A |
probably benign |
Het |
| Ociad1 |
T |
C |
5: 73,451,675 (GRCm39) |
S15P |
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,283,765 (GRCm39) |
V803A |
probably damaging |
Het |
| Rxylt1 |
T |
C |
10: 121,931,847 (GRCm39) |
I109V |
possibly damaging |
Het |
| Skint7 |
T |
C |
4: 111,841,355 (GRCm39) |
I265T |
probably benign |
Het |
| Srsf2 |
A |
G |
11: 116,743,009 (GRCm39) |
|
probably benign |
Het |
| Tac2 |
A |
G |
10: 127,565,371 (GRCm39) |
N108D |
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 |
|
|
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 |
|
|
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'- ATCTTCTGGGCTGGATGGGAGAAC -3'
(R):5'- GGACCGAGAATTGATGGGACTCAC -3'
Sequencing Primer
(F):5'- AGGTTTATCACTGGCACGAC -3'
(R):5'- ATTGATGGGACTCACTGGGAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation