Incidental Mutation 'IGL01545:Xrn2'
| ID |
90287 |
| 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 # |
IGL01545
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
146854916-146919920 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 146880099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 474
(I474K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028921]
|
| AlphaFold |
Q9DBR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028921
AA Change: I474K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: I474K
| 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
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
G |
A |
11: 30,376,228 (GRCm39) |
S213L |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,614,303 (GRCm39) |
I4030T |
possibly damaging |
Het |
| Ap4b1 |
G |
A |
3: 103,720,143 (GRCm39) |
R55H |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,159,282 (GRCm39) |
M55K |
probably benign |
Het |
| B3galt4 |
A |
C |
17: 34,170,187 (GRCm39) |
V17G |
probably benign |
Het |
| Cd79a |
A |
T |
7: 24,600,691 (GRCm39) |
M172L |
probably benign |
Het |
| Cry1 |
A |
T |
10: 85,020,226 (GRCm39) |
L37H |
possibly damaging |
Het |
| D5Ertd615e |
A |
T |
5: 45,326,755 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah17 |
A |
T |
11: 118,010,394 (GRCm39) |
L308Q |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,557,941 (GRCm39) |
A2158T |
probably benign |
Het |
| Dusp2 |
A |
G |
2: 127,179,695 (GRCm39) |
T313A |
probably benign |
Het |
| Fam110c |
T |
C |
12: 31,124,982 (GRCm39) |
S315P |
probably damaging |
Het |
| Fcer2a |
G |
A |
8: 3,733,598 (GRCm39) |
R198* |
probably null |
Het |
| Fryl |
G |
A |
5: 73,211,940 (GRCm39) |
T2359M |
probably damaging |
Het |
| Gm14221 |
G |
A |
2: 160,410,303 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc6 |
T |
G |
14: 118,202,242 (GRCm39) |
L484R |
probably damaging |
Het |
| Igdcc3 |
G |
A |
9: 65,087,355 (GRCm39) |
V298M |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,046,080 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
T |
A |
1: 89,973,364 (GRCm39) |
M803L |
probably benign |
Het |
| Itga4 |
T |
C |
2: 79,146,314 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
G |
7: 125,352,143 (GRCm39) |
|
probably null |
Het |
| Kidins220 |
T |
C |
12: 25,090,459 (GRCm39) |
F1141S |
possibly damaging |
Het |
| Kif7 |
A |
G |
7: 79,352,026 (GRCm39) |
I912T |
probably damaging |
Het |
| Klhl38 |
G |
A |
15: 58,185,854 (GRCm39) |
R292W |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,574,188 (GRCm39) |
D590G |
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,053,389 (GRCm39) |
|
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,827,758 (GRCm39) |
D39E |
probably damaging |
Het |
| Mrm2 |
A |
G |
5: 140,317,010 (GRCm39) |
V8A |
probably benign |
Het |
| Myod1 |
A |
T |
7: 46,026,539 (GRCm39) |
E148V |
probably damaging |
Het |
| Or5d47 |
A |
C |
2: 87,804,895 (GRCm39) |
I38S |
probably benign |
Het |
| Pdcd10 |
A |
T |
3: 75,448,475 (GRCm39) |
F30I |
possibly damaging |
Het |
| Ptcd1 |
T |
A |
5: 145,096,346 (GRCm39) |
H249L |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,865,561 (GRCm39) |
D451E |
probably benign |
Het |
| Rab44 |
C |
A |
17: 29,366,351 (GRCm39) |
S680R |
unknown |
Het |
| Rad21l |
A |
T |
2: 151,497,084 (GRCm39) |
D340E |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,703 (GRCm39) |
F1808L |
possibly damaging |
Het |
| Rnf122 |
T |
C |
8: 31,618,630 (GRCm39) |
V126A |
probably damaging |
Het |
| Slc25a47 |
G |
T |
12: 108,820,142 (GRCm39) |
V49L |
probably benign |
Het |
| Slc36a2 |
T |
C |
11: 55,075,633 (GRCm39) |
|
probably null |
Het |
| Sorl1 |
G |
A |
9: 41,955,252 (GRCm39) |
R668W |
probably damaging |
Het |
| Tbx19 |
T |
A |
1: 164,966,725 (GRCm39) |
N383I |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,523,510 (GRCm39) |
H1676R |
probably benign |
Het |
| Tgm5 |
G |
T |
2: 120,883,289 (GRCm39) |
R351S |
probably damaging |
Het |
| Tmem106b |
A |
G |
6: 13,071,842 (GRCm39) |
S34G |
probably benign |
Het |
| Trmo |
C |
T |
4: 46,386,169 (GRCm39) |
G119R |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,170,140 (GRCm39) |
|
probably benign |
Het |
| Wfdc11 |
A |
G |
2: 164,507,365 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,797,063 (GRCm39) |
K383R |
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 |
|
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 |
2013-12-03 |
Incidental Mutation