Incidental Mutation 'IGL02332:Xrn2'
| ID |
288726 |
| 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 # |
IGL02332
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
146854916-146919920 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 146868510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 188
(W188R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028921]
|
| AlphaFold |
Q9DBR1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028921
AA Change: W188R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: W188R
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B24Rik |
A |
G |
3: 48,563,323 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
A |
T |
11: 9,241,482 (GRCm39) |
Y1115F |
probably damaging |
Het |
| Adam29 |
T |
A |
8: 56,324,775 (GRCm39) |
I560F |
probably damaging |
Het |
| Bivm |
T |
C |
1: 44,167,880 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
C |
A |
4: 68,823,121 (GRCm39) |
R24L |
probably benign |
Het |
| Cnga1 |
A |
G |
5: 72,761,829 (GRCm39) |
Y562H |
probably damaging |
Het |
| Cr2 |
C |
A |
1: 194,842,630 (GRCm39) |
Q256H |
probably benign |
Het |
| Dhcr7 |
A |
T |
7: 143,396,865 (GRCm39) |
N119I |
probably damaging |
Het |
| Dio1 |
A |
T |
4: 107,150,978 (GRCm39) |
Y169N |
probably damaging |
Het |
| Dmbt1 |
C |
T |
7: 130,668,343 (GRCm39) |
|
probably benign |
Het |
| Eogt |
T |
G |
6: 97,102,566 (GRCm39) |
H249P |
probably damaging |
Het |
| Ermard |
A |
C |
17: 15,210,807 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
C |
6: 33,226,175 (GRCm39) |
|
probably null |
Het |
| Fxr2 |
G |
T |
11: 69,540,664 (GRCm39) |
|
probably null |
Het |
| Glyr1 |
G |
T |
16: 4,836,817 (GRCm39) |
T443N |
probably damaging |
Het |
| Gm14137 |
T |
G |
2: 119,005,807 (GRCm39) |
L122R |
probably damaging |
Het |
| Gm4845 |
C |
A |
1: 141,184,335 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8258 |
A |
G |
5: 104,923,768 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
G |
A |
3: 63,897,990 (GRCm39) |
R258H |
probably benign |
Het |
| Itga6 |
T |
G |
2: 71,668,717 (GRCm39) |
L552R |
possibly damaging |
Het |
| Itgam |
T |
A |
7: 127,684,846 (GRCm39) |
|
probably null |
Het |
| Itgb5 |
G |
T |
16: 33,740,500 (GRCm39) |
E224* |
probably null |
Het |
| Itih4 |
C |
A |
14: 30,609,817 (GRCm39) |
A49D |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,328,040 (GRCm39) |
N64K |
probably damaging |
Het |
| Moap1 |
T |
C |
12: 102,709,066 (GRCm39) |
Y161C |
probably benign |
Het |
| Mst1r |
G |
T |
9: 107,785,025 (GRCm39) |
G228* |
probably null |
Het |
| Myo1g |
T |
C |
11: 6,470,766 (GRCm39) |
D30G |
possibly damaging |
Het |
| Ndn |
T |
A |
7: 61,998,573 (GRCm39) |
C140S |
probably damaging |
Het |
| Nek5 |
G |
T |
8: 22,585,277 (GRCm39) |
Q367K |
probably benign |
Het |
| Nrdc |
A |
T |
4: 108,858,185 (GRCm39) |
R52S |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,634,571 (GRCm39) |
L1007Q |
probably damaging |
Het |
| Or51k2 |
T |
C |
7: 103,596,127 (GRCm39) |
M118T |
probably damaging |
Het |
| Or5be3 |
T |
C |
2: 86,864,556 (GRCm39) |
D3G |
probably benign |
Het |
| Or5d47 |
A |
T |
2: 87,804,409 (GRCm39) |
L200Q |
probably damaging |
Het |
| P2rx2 |
T |
C |
5: 110,489,671 (GRCm39) |
S116G |
probably benign |
Het |
| Pcdhb13 |
G |
A |
18: 37,576,635 (GRCm39) |
V338M |
probably benign |
Het |
| Pdcl2 |
A |
T |
5: 76,466,982 (GRCm39) |
Y70* |
probably null |
Het |
| Ppm1e |
T |
C |
11: 87,122,568 (GRCm39) |
H463R |
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,731,951 (GRCm39) |
C134S |
possibly damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,057,602 (GRCm39) |
F180L |
possibly damaging |
Het |
| Pxn |
A |
G |
5: 115,682,985 (GRCm39) |
S96G |
probably benign |
Het |
| Rasa4 |
G |
T |
5: 136,124,453 (GRCm39) |
Q167H |
probably benign |
Het |
| Rfx8 |
T |
C |
1: 39,757,640 (GRCm39) |
I43V |
possibly damaging |
Het |
| Sez6 |
C |
T |
11: 77,845,568 (GRCm39) |
|
probably benign |
Het |
| Slc39a6 |
A |
T |
18: 24,722,880 (GRCm39) |
D473E |
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,842,885 (GRCm39) |
D68G |
probably damaging |
Het |
| Syt13 |
T |
C |
2: 92,771,149 (GRCm39) |
F79L |
probably benign |
Het |
| Tas2r103 |
A |
T |
6: 133,013,475 (GRCm39) |
M197K |
probably benign |
Het |
| Tbrg4 |
A |
G |
11: 6,568,492 (GRCm39) |
V429A |
probably damaging |
Het |
| Tuft1 |
A |
C |
3: 94,523,075 (GRCm39) |
|
probably null |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,937 (GRCm39) |
T80A |
probably damaging |
Het |
| Vps18 |
A |
G |
2: 119,124,291 (GRCm39) |
N406S |
probably benign |
Het |
| Zzef1 |
T |
G |
11: 72,807,335 (GRCm39) |
S2738A |
probably benign |
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 |
|
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