Incidental Mutation 'R3927:Xrn2'
| ID |
308315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xrn2
|
| Ensembl Gene |
ENSMUSG00000027433 |
| Gene Name |
5'-3' exoribonuclease 2 |
| Synonyms |
|
| MMRRC Submission |
040822-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R3927 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
146854916-146919920 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 146880109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 477
(N477K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028921]
|
| AlphaFold |
Q9DBR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028921
AA Change: N477K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: N477K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRN_N
|
1 |
254 |
1.5e-104 |
PFAM |
|
ZnF_C2HC
|
262 |
278 |
7.99e-1 |
SMART |
|
low complexity region
|
415 |
427 |
N/A |
INTRINSIC |
|
PDB:3FQD|A
|
469 |
785 |
8e-75 |
PDB |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147057
|
| Meta Mutation Damage Score |
0.0830 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
95% (40/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
G |
2: 103,538,563 (GRCm39) |
|
probably null |
Het |
| Alpk1 |
T |
C |
3: 127,471,365 (GRCm39) |
H1039R |
probably damaging |
Het |
| Avpr1a |
A |
G |
10: 122,285,616 (GRCm39) |
S303G |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,246,840 (GRCm39) |
L79S |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,967,928 (GRCm39) |
I667T |
possibly damaging |
Het |
| Bend5 |
A |
G |
4: 111,305,802 (GRCm39) |
Y282C |
possibly damaging |
Het |
| Clstn3 |
T |
C |
6: 124,428,327 (GRCm39) |
D438G |
probably damaging |
Het |
| Cog3 |
A |
G |
14: 75,980,998 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,441,525 (GRCm39) |
N55S |
probably benign |
Het |
| Eif4b |
G |
A |
15: 101,992,745 (GRCm39) |
G101R |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,033,861 (GRCm39) |
L40P |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,139,135 (GRCm39) |
V356A |
probably benign |
Het |
| Hal |
T |
C |
10: 93,349,888 (GRCm39) |
|
probably benign |
Het |
| Helz |
A |
G |
11: 107,576,118 (GRCm39) |
Y1770C |
unknown |
Het |
| Meis3 |
A |
G |
7: 15,911,419 (GRCm39) |
T39A |
probably benign |
Het |
| Nod1 |
G |
T |
6: 54,921,902 (GRCm39) |
R139S |
probably benign |
Het |
| Or6n2 |
A |
T |
1: 173,896,878 (GRCm39) |
N5Y |
probably damaging |
Het |
| Pacsin3 |
C |
T |
2: 91,093,286 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
T |
A |
12: 79,100,422 (GRCm39) |
I130N |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,428,465 (GRCm39) |
E512K |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,531 (GRCm39) |
I215M |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Sap130 |
A |
T |
18: 31,807,435 (GRCm39) |
H414L |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,145 (GRCm39) |
I156T |
probably benign |
Het |
| Slc37a2 |
G |
A |
9: 37,146,803 (GRCm39) |
T338M |
probably damaging |
Het |
| Spinkl |
T |
A |
18: 44,302,230 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,251,878 (GRCm39) |
L657* |
probably null |
Het |
| Tmem217 |
A |
G |
17: 29,745,677 (GRCm39) |
S18P |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Tubb4a |
A |
G |
17: 57,387,967 (GRCm39) |
V353A |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,553,741 (GRCm39) |
F974L |
probably benign |
Het |
| Ubqln5 |
A |
G |
7: 103,777,678 (GRCm39) |
L382P |
probably damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,436,723 (GRCm39) |
|
probably null |
Het |
| Unkl |
C |
T |
17: 25,448,303 (GRCm39) |
T66I |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,749,208 (GRCm39) |
S899P |
probably damaging |
Het |
| Zzz3 |
T |
C |
3: 152,161,499 (GRCm39) |
Y298H |
probably damaging |
Het |
|
| Other mutations in Xrn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Xrn2
|
APN |
2 |
146,878,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00950:Xrn2
|
APN |
2 |
146,870,066 (GRCm39) |
nonsense |
probably null |
|
|
IGL01323:Xrn2
|
APN |
2 |
146,876,767 (GRCm39) |
splice site |
probably benign |
|
|
IGL01328:Xrn2
|
APN |
2 |
146,871,850 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01545:Xrn2
|
APN |
2 |
146,880,099 (GRCm39) |
missense |
probably benign |
|
|
IGL01729:Xrn2
|
APN |
2 |
146,878,717 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01805:Xrn2
|
APN |
2 |
146,870,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02326:Xrn2
|
APN |
2 |
146,889,633 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02332:Xrn2
|
APN |
2 |
146,868,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02556:Xrn2
|
APN |
2 |
146,880,216 (GRCm39) |
splice site |
probably benign |
|
|
IGL02609:Xrn2
|
APN |
2 |
146,891,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02941:Xrn2
|
APN |
2 |
146,868,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03119:Xrn2
|
APN |
2 |
146,884,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Xrn2
|
UTSW |
2 |
146,882,885 (GRCm39) |
splice site |
probably benign |
|
|
R0114:Xrn2
|
UTSW |
2 |
146,871,699 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0196:Xrn2
|
UTSW |
2 |
146,889,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0799:Xrn2
|
UTSW |
2 |
146,871,818 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0991:Xrn2
|
UTSW |
2 |
146,884,002 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1444:Xrn2
|
UTSW |
2 |
146,903,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1727:Xrn2
|
UTSW |
2 |
146,903,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1735:Xrn2
|
UTSW |
2 |
146,903,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Xrn2
|
UTSW |
2 |
146,891,281 (GRCm39) |
nonsense |
probably null |
|
|
R2199:Xrn2
|
UTSW |
2 |
146,866,670 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2884:Xrn2
|
UTSW |
2 |
146,889,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3730:Xrn2
|
UTSW |
2 |
146,866,729 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3771:Xrn2
|
UTSW |
2 |
146,903,207 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3772:Xrn2
|
UTSW |
2 |
146,903,207 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3773:Xrn2
|
UTSW |
2 |
146,903,207 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3816:Xrn2
|
UTSW |
2 |
146,870,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4173:Xrn2
|
UTSW |
2 |
146,889,612 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4659:Xrn2
|
UTSW |
2 |
146,903,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4928:Xrn2
|
UTSW |
2 |
146,893,638 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5452:Xrn2
|
UTSW |
2 |
146,866,633 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5527:Xrn2
|
UTSW |
2 |
146,871,675 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6297:Xrn2
|
UTSW |
2 |
146,868,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6301:Xrn2
|
UTSW |
2 |
146,905,262 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6316:Xrn2
|
UTSW |
2 |
146,883,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6705:Xrn2
|
UTSW |
2 |
146,878,582 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7173:Xrn2
|
UTSW |
2 |
146,884,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7408:Xrn2
|
UTSW |
2 |
146,884,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7412:Xrn2
|
UTSW |
2 |
146,891,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7501:Xrn2
|
UTSW |
2 |
146,871,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7856:Xrn2
|
UTSW |
2 |
146,910,393 (GRCm39) |
splice site |
probably null |
|
|
R8912:Xrn2
|
UTSW |
2 |
146,891,913 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8969:Xrn2
|
UTSW |
2 |
146,871,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9083:Xrn2
|
UTSW |
2 |
146,880,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Xrn2
|
UTSW |
2 |
146,855,081 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Xrn2
|
UTSW |
2 |
146,870,126 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTGATGTGGGACAAGACC -3'
(R):5'- AACTCTCCACATTAATTACTGCTGG -3'
Sequencing Primer
(F):5'- TGGGACAAGACCAGTCTGTTC -3'
(R):5'- TTGCCACTGTAAGCTAAACAGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation