Incidental Mutation 'IGL02326:Xrn2'
| ID |
288495 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xrn2
|
| Ensembl Gene |
ENSMUSG00000027433 |
| Gene Name |
5'-3' exoribonuclease 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL02326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
146854916-146919920 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 146889633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 672
(E672G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028921]
|
| AlphaFold |
Q9DBR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028921
AA Change: E672G
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: E672G
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
T |
C |
3: 121,465,051 (GRCm39) |
V29A |
unknown |
Het |
| Abcc8 |
C |
A |
7: 45,772,281 (GRCm39) |
|
probably null |
Het |
| Ankar |
A |
T |
1: 72,705,514 (GRCm39) |
I614N |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,873,364 (GRCm39) |
R49H |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,671,654 (GRCm39) |
H1123R |
probably damaging |
Het |
| Casp12 |
T |
C |
9: 5,358,317 (GRCm39) |
Y375H |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,062,770 (GRCm39) |
I861T |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 104,902,764 (GRCm39) |
L485P |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,336,712 (GRCm39) |
N25K |
possibly damaging |
Het |
| Col14a1 |
T |
C |
15: 55,282,193 (GRCm39) |
V818A |
unknown |
Het |
| Csmd3 |
G |
A |
15: 47,619,359 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,869,755 (GRCm39) |
Y509C |
probably damaging |
Het |
| Fabp2 |
C |
T |
3: 122,692,395 (GRCm39) |
R96C |
probably damaging |
Het |
| Fam53a |
T |
C |
5: 33,757,938 (GRCm39) |
D395G |
probably damaging |
Het |
| Gabrb1 |
T |
A |
5: 71,858,190 (GRCm39) |
I72K |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,340,964 (GRCm39) |
S4479N |
probably damaging |
Het |
| Hrnr |
C |
T |
3: 93,231,052 (GRCm39) |
T430I |
unknown |
Het |
| Ighv1-53 |
T |
A |
12: 115,122,235 (GRCm39) |
T47S |
probably benign |
Het |
| Ilk |
C |
A |
7: 105,390,840 (GRCm39) |
P261Q |
probably damaging |
Het |
| Ints10 |
T |
G |
8: 69,257,485 (GRCm39) |
D228E |
probably damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,472,816 (GRCm39) |
S782R |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,467,897 (GRCm39) |
S1046P |
probably damaging |
Het |
| Musk |
C |
T |
4: 58,354,113 (GRCm39) |
P374S |
probably benign |
Het |
| Or52e18 |
T |
A |
7: 104,609,853 (GRCm39) |
I29F |
probably benign |
Het |
| Or5b108 |
C |
A |
19: 13,168,779 (GRCm39) |
Y249* |
probably null |
Het |
| Or5j1 |
G |
A |
2: 86,879,355 (GRCm39) |
S75L |
possibly damaging |
Het |
| Or5w19 |
T |
A |
2: 87,699,019 (GRCm39) |
I228N |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,624,941 (GRCm39) |
Y246H |
probably benign |
Het |
| Plekha5 |
G |
T |
6: 140,529,576 (GRCm39) |
G340* |
probably null |
Het |
| Plxna4 |
T |
A |
6: 32,129,840 (GRCm39) |
M1828L |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,463,105 (GRCm39) |
I252T |
probably benign |
Het |
| Pura |
A |
G |
18: 36,420,831 (GRCm39) |
D206G |
probably damaging |
Het |
| Rad54b |
T |
A |
4: 11,612,713 (GRCm39) |
F782I |
probably damaging |
Het |
| Rbp4 |
T |
C |
19: 38,112,563 (GRCm39) |
D90G |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Scn7a |
C |
A |
2: 66,530,392 (GRCm39) |
R651L |
probably benign |
Het |
| Sh2d3c |
A |
T |
2: 32,639,163 (GRCm39) |
|
probably null |
Het |
| Slc43a1 |
T |
G |
2: 84,680,115 (GRCm39) |
L87R |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,078,099 (GRCm39) |
T300A |
probably benign |
Het |
| Srgap2 |
T |
A |
1: 131,284,645 (GRCm39) |
|
probably null |
Het |
| Tkt |
G |
A |
14: 30,294,182 (GRCm39) |
V531M |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,233,431 (GRCm39) |
D173G |
possibly damaging |
Het |
| Ugt2b37 |
G |
T |
5: 87,388,861 (GRCm39) |
H451N |
probably benign |
Het |
| Ugt2b38 |
C |
T |
5: 87,571,592 (GRCm39) |
D147N |
probably damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,255 (GRCm39) |
I41T |
probably benign |
Het |
| Vwa5a |
A |
T |
9: 38,649,252 (GRCm39) |
T667S |
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,834,727 (GRCm39) |
M1K |
probably null |
Het |
| Zmym1 |
T |
C |
4: 126,941,553 (GRCm39) |
E847G |
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 |
|
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 |
|
R3927:Xrn2
|
UTSW |
2 |
146,880,109 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation