Incidental Mutation 'R5452:Xrn2'
| ID |
432556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xrn2
|
| Ensembl Gene |
ENSMUSG00000027433 |
| Gene Name |
5'-3' exoribonuclease 2 |
| Synonyms |
|
| MMRRC Submission |
042848-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R5452 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
146854916-146919920 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 146866633 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 null
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
A |
T |
8: 41,248,801 (GRCm39) |
I304F |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,666,800 (GRCm39) |
|
probably benign |
Het |
| Akr1c6 |
A |
G |
13: 4,504,544 (GRCm39) |
R132G |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,892,183 (GRCm39) |
M1354K |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,844,311 (GRCm39) |
I911T |
possibly damaging |
Het |
| Calm2 |
T |
C |
17: 87,743,150 (GRCm39) |
|
probably null |
Het |
| Ccdc80 |
G |
A |
16: 44,938,528 (GRCm39) |
R745Q |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,721,233 (GRCm39) |
I2685T |
possibly damaging |
Het |
| Chkb |
T |
C |
15: 89,313,788 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
T |
A |
6: 148,943,011 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,415,209 (GRCm39) |
Y175C |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,069,313 (GRCm39) |
S1154P |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,359,404 (GRCm39) |
S325P |
probably damaging |
Het |
| Fzd9 |
C |
T |
5: 135,279,714 (GRCm39) |
R57H |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Gm9949 |
A |
G |
18: 62,313,587 (GRCm39) |
|
probably benign |
Het |
| Gnb4 |
A |
T |
3: 32,643,994 (GRCm39) |
M188K |
probably benign |
Het |
| Hr |
G |
T |
14: 70,794,067 (GRCm39) |
G109V |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,812,328 (GRCm39) |
S2426P |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,610,413 (GRCm39) |
W88R |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
| Moxd2 |
C |
T |
6: 40,859,048 (GRCm39) |
|
probably null |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,556 (GRCm39) |
I64V |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,049,715 (GRCm39) |
S232G |
probably null |
Het |
| Or5p68 |
A |
C |
7: 107,945,312 (GRCm39) |
I292S |
probably damaging |
Het |
| Padi2 |
T |
C |
4: 140,659,382 (GRCm39) |
F229S |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,666,172 (GRCm39) |
N1136S |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,398,811 (GRCm39) |
N254I |
possibly damaging |
Het |
| Plcb2 |
A |
G |
2: 118,548,727 (GRCm39) |
Y400H |
probably damaging |
Het |
| Plce1 |
A |
C |
19: 38,608,926 (GRCm39) |
T412P |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,519 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,586,501 (GRCm39) |
N2510S |
possibly damaging |
Het |
| Psme4 |
T |
A |
11: 30,741,168 (GRCm39) |
S107T |
probably benign |
Het |
| Resf1 |
C |
A |
6: 149,230,611 (GRCm39) |
S1219* |
probably null |
Het |
| Rint1 |
G |
T |
5: 23,999,363 (GRCm39) |
A51S |
probably benign |
Het |
| Rsad1 |
T |
A |
11: 94,434,515 (GRCm39) |
R306S |
probably damaging |
Het |
| Sema3c |
T |
G |
5: 17,922,068 (GRCm39) |
|
probably null |
Het |
| Sirt3 |
G |
A |
7: 140,444,928 (GRCm39) |
T290I |
probably damaging |
Het |
| Spam1 |
G |
A |
6: 24,800,731 (GRCm39) |
G490D |
probably benign |
Het |
| Speer4f2 |
C |
T |
5: 17,581,498 (GRCm39) |
R147W |
possibly damaging |
Het |
| Sppl2c |
A |
T |
11: 104,078,126 (GRCm39) |
I309L |
probably benign |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| St3gal4 |
C |
T |
9: 34,964,752 (GRCm39) |
R152H |
probably damaging |
Het |
| Sv2c |
A |
T |
13: 96,114,591 (GRCm39) |
F532I |
probably damaging |
Het |
| Tacc1 |
C |
A |
8: 25,654,431 (GRCm39) |
K705N |
probably null |
Het |
| Tekt3 |
G |
T |
11: 62,985,619 (GRCm39) |
S475I |
probably damaging |
Het |
| Tjap1 |
T |
C |
17: 46,571,101 (GRCm39) |
T139A |
probably damaging |
Het |
| Tnfrsf8 |
T |
A |
4: 145,019,214 (GRCm39) |
K207M |
possibly damaging |
Het |
| Tnn |
T |
C |
1: 159,937,831 (GRCm39) |
T965A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trmt2a |
A |
G |
16: 18,068,814 (GRCm39) |
H270R |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,780,037 (GRCm39) |
L448P |
probably benign |
Het |
| Ttll4 |
C |
A |
1: 74,718,480 (GRCm39) |
N110K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,948,471 (GRCm39) |
Y215H |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,698,783 (GRCm39) |
Y1595H |
possibly damaging |
Het |
| Unc45a |
G |
A |
7: 79,978,787 (GRCm39) |
P621S |
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 |
|
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 |
|
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'- TTCATAGCCAAAAGAATGCAACGG -3'
(R):5'- TACTATTCAGCTGACTTTCACTGAG -3'
Sequencing Primer
(F):5'- GATTCCAGTTGATGCCAGTAAACC -3'
(R):5'- CAGCTGACTTTCACTGAGATATTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation