Incidental Mutation 'R6705:Xrn2'
ID |
528886 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xrn2
|
Ensembl Gene |
ENSMUSG00000027433 |
Gene Name |
5'-3' exoribonuclease 2 |
Synonyms |
|
MMRRC Submission |
044823-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R6705 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
146854916-146919920 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 146878582 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: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (44/44) |
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 |
Ablim1 |
G |
A |
19: 57,204,253 (GRCm39) |
T46I |
probably benign |
Het |
Afdn |
G |
A |
17: 14,108,283 (GRCm39) |
V1269I |
probably benign |
Het |
Aldh5a1 |
A |
T |
13: 25,096,253 (GRCm39) |
N448K |
probably damaging |
Het |
Cant1 |
G |
T |
11: 118,298,698 (GRCm39) |
T355K |
probably damaging |
Het |
Ccn2 |
T |
A |
10: 24,471,853 (GRCm39) |
L25Q |
probably damaging |
Het |
Comp |
C |
A |
8: 70,829,387 (GRCm39) |
N321K |
probably damaging |
Het |
D1Pas1 |
G |
T |
1: 186,700,576 (GRCm39) |
E168D |
probably benign |
Het |
Ddx23 |
G |
A |
15: 98,550,849 (GRCm39) |
R111* |
probably null |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Erlin2 |
T |
A |
8: 27,526,468 (GRCm39) |
L276Q |
probably damaging |
Het |
Etaa1 |
T |
C |
11: 17,895,639 (GRCm39) |
N826S |
probably benign |
Het |
Fam168b |
A |
T |
1: 34,867,864 (GRCm39) |
N45K |
probably damaging |
Het |
Gas2l2 |
G |
A |
11: 83,313,462 (GRCm39) |
R617* |
probably null |
Het |
Gtf3c2 |
C |
A |
5: 31,323,352 (GRCm39) |
C533F |
possibly damaging |
Het |
Hdac5 |
T |
C |
11: 102,092,062 (GRCm39) |
T676A |
probably damaging |
Het |
Helb |
A |
G |
10: 119,925,716 (GRCm39) |
|
probably null |
Het |
Igkv3-7 |
A |
T |
6: 70,585,004 (GRCm39) |
S95C |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,952,926 (GRCm39) |
I899V |
probably damaging |
Het |
Lgr5 |
G |
A |
10: 115,423,193 (GRCm39) |
S69F |
probably damaging |
Het |
Lrrc55 |
A |
T |
2: 85,026,699 (GRCm39) |
D108E |
probably benign |
Het |
Mphosph9 |
T |
C |
5: 124,429,027 (GRCm39) |
N667S |
possibly damaging |
Het |
Myf6 |
C |
T |
10: 107,329,690 (GRCm39) |
V198M |
possibly damaging |
Het |
Nav2 |
T |
C |
7: 49,201,664 (GRCm39) |
S1413P |
probably damaging |
Het |
Nfe2l1 |
A |
C |
11: 96,718,451 (GRCm39) |
V28G |
probably damaging |
Het |
Nup210 |
G |
T |
6: 91,064,942 (GRCm39) |
T186K |
possibly damaging |
Het |
Or13a18 |
T |
A |
7: 140,190,697 (GRCm39) |
M206K |
probably damaging |
Het |
Or6c1b |
G |
A |
10: 129,272,941 (GRCm39) |
D87N |
probably benign |
Het |
Or8b12 |
T |
A |
9: 37,658,030 (GRCm39) |
I200N |
possibly damaging |
Het |
Or8b4 |
T |
A |
9: 37,830,080 (GRCm39) |
N42K |
probably damaging |
Het |
Ppfia1 |
G |
A |
7: 144,072,911 (GRCm39) |
T301M |
possibly damaging |
Het |
Ppp1r14c |
A |
T |
10: 3,316,890 (GRCm39) |
Y75F |
probably damaging |
Het |
Ppp1r3g |
C |
A |
13: 36,152,880 (GRCm39) |
A100E |
probably benign |
Het |
Rictor |
A |
G |
15: 6,823,493 (GRCm39) |
T1557A |
probably benign |
Het |
Shc1 |
C |
T |
3: 89,330,266 (GRCm39) |
R67* |
probably null |
Het |
Skint10 |
A |
T |
4: 112,630,301 (GRCm39) |
|
probably benign |
Het |
Slk |
A |
G |
19: 47,597,498 (GRCm39) |
N102S |
probably benign |
Het |
Tbc1d5 |
T |
C |
17: 51,332,203 (GRCm39) |
|
probably benign |
Het |
Tiam2 |
G |
A |
17: 3,568,518 (GRCm39) |
V1555I |
probably benign |
Het |
Vmn1r174 |
C |
A |
7: 23,453,851 (GRCm39) |
S172R |
probably benign |
Het |
Vps39 |
A |
T |
2: 120,151,157 (GRCm39) |
N823K |
probably benign |
Het |
Wdr27 |
A |
T |
17: 15,154,852 (GRCm39) |
Y22N |
probably damaging |
Het |
Zbp1 |
A |
T |
2: 173,055,680 (GRCm39) |
C161* |
probably null |
Het |
Zfp236 |
T |
A |
18: 82,651,862 (GRCm39) |
E821V |
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 |
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 |
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'- ATTGCATTTGGCTTCAAGAGGAC -3'
(R):5'- TGTTCATCACCCAACGTCAC -3'
Sequencing Primer
(F):5'- ACAGGCTTGTCTACAGCTG -3'
(R):5'- CGTCACACAGAAGTAGTAAGCC -3'
|
Posted On |
2018-07-24 |