Incidental Mutation 'IGL01323:Xrn2'
ID |
74150 |
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 # |
IGL01323
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
146854916-146919920 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 146876767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028921
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028921]
|
AlphaFold |
Q9DBR1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028921
|
SMART Domains |
Protein: ENSMUSP00000028921 Gene: ENSMUSG00000027433
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: ENSMUST00000147057
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef2 |
A |
G |
2: 166,713,415 (GRCm39) |
D1272G |
probably damaging |
Het |
Ascl2 |
A |
G |
7: 142,522,125 (GRCm39) |
S108P |
probably benign |
Het |
B3gat1 |
T |
C |
9: 26,667,206 (GRCm39) |
V146A |
possibly damaging |
Het |
Barhl1 |
C |
T |
2: 28,805,558 (GRCm39) |
S45N |
probably benign |
Het |
Birc6 |
C |
T |
17: 74,929,920 (GRCm39) |
A2370V |
probably damaging |
Het |
C1qtnf7 |
A |
G |
5: 43,766,602 (GRCm39) |
D67G |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,762,086 (GRCm39) |
T171A |
probably benign |
Het |
Ccdc77 |
T |
C |
6: 120,311,757 (GRCm39) |
Q247R |
probably benign |
Het |
Cenpp |
A |
T |
13: 49,801,118 (GRCm39) |
V100D |
probably damaging |
Het |
Cep135 |
A |
G |
5: 76,739,612 (GRCm39) |
T3A |
probably benign |
Het |
Eef2k |
T |
C |
7: 120,484,038 (GRCm39) |
|
probably benign |
Het |
Fga |
T |
C |
3: 82,937,518 (GRCm39) |
S132P |
probably damaging |
Het |
Gpr6 |
T |
A |
10: 40,947,555 (GRCm39) |
N9I |
possibly damaging |
Het |
Gvin2 |
A |
G |
7: 105,546,009 (GRCm39) |
S2348P |
possibly damaging |
Het |
Hacd3 |
A |
G |
9: 64,905,587 (GRCm39) |
F184L |
probably damaging |
Het |
Heatr1 |
T |
C |
13: 12,413,819 (GRCm39) |
I132T |
possibly damaging |
Het |
Igfbp7 |
A |
G |
5: 77,499,884 (GRCm39) |
|
probably benign |
Het |
Ighv8-6 |
T |
C |
12: 115,129,477 (GRCm39) |
D93G |
possibly damaging |
Het |
Izumo3 |
A |
G |
4: 92,034,627 (GRCm39) |
|
probably benign |
Het |
Jade2 |
T |
C |
11: 51,716,165 (GRCm39) |
T347A |
possibly damaging |
Het |
Kif18a |
A |
G |
2: 109,128,787 (GRCm39) |
T419A |
probably benign |
Het |
Krt34 |
A |
G |
11: 99,929,606 (GRCm39) |
S267P |
possibly damaging |
Het |
Krt4 |
T |
G |
15: 101,828,716 (GRCm39) |
K383Q |
probably damaging |
Het |
Lgals7 |
G |
T |
7: 28,564,989 (GRCm39) |
E42D |
probably benign |
Het |
Morc2b |
A |
G |
17: 33,356,293 (GRCm39) |
V493A |
possibly damaging |
Het |
Mtif2 |
T |
A |
11: 29,491,447 (GRCm39) |
S557R |
probably damaging |
Het |
Nup43 |
T |
A |
10: 7,545,320 (GRCm39) |
F83I |
probably benign |
Het |
Oosp2 |
A |
G |
19: 11,624,825 (GRCm39) |
L155S |
probably damaging |
Het |
Or1o1 |
G |
T |
17: 37,717,031 (GRCm39) |
M197I |
probably benign |
Het |
Plxnd1 |
T |
A |
6: 115,943,760 (GRCm39) |
T1180S |
possibly damaging |
Het |
Prpf39 |
T |
A |
12: 65,089,498 (GRCm39) |
F79I |
possibly damaging |
Het |
Prph |
G |
A |
15: 98,956,517 (GRCm39) |
S465N |
possibly damaging |
Het |
Purg |
A |
T |
8: 33,876,631 (GRCm39) |
I90L |
probably damaging |
Het |
Pxdn |
C |
A |
12: 30,037,136 (GRCm39) |
Q305K |
probably benign |
Het |
R3hdm1 |
G |
A |
1: 128,144,280 (GRCm39) |
S816N |
probably benign |
Het |
Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
Tmem201 |
G |
A |
4: 149,804,045 (GRCm39) |
|
probably benign |
Het |
Tnfrsf22 |
G |
A |
7: 143,197,111 (GRCm39) |
P76L |
probably damaging |
Het |
Triml1 |
T |
C |
8: 43,591,600 (GRCm39) |
|
probably null |
Het |
Upp1 |
A |
G |
11: 9,086,100 (GRCm39) |
*312W |
probably null |
Het |
Wdfy3 |
G |
T |
5: 102,042,930 (GRCm39) |
S1940R |
probably damaging |
Het |
Xpc |
T |
C |
6: 91,469,335 (GRCm39) |
Y804C |
probably damaging |
Het |
Zfp106 |
A |
T |
2: 120,354,945 (GRCm39) |
D1275E |
possibly 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 |
|
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 |
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 |
2013-10-07 |