Incidental Mutation 'R1444:Xrn2'
| ID |
158694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xrn2
|
| Ensembl Gene |
ENSMUSG00000027433 |
| Gene Name |
5'-3' exoribonuclease 2 |
| Synonyms |
|
| MMRRC Submission |
039499-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R1444 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
146854916-146919920 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 146903408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 803
(R803W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028921]
|
| AlphaFold |
Q9DBR1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028921
AA Change: R803W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028921
Gene: ENSMUSG00000027433
AA Change: R803W
| 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: ENSMUST00000137358
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.1%
|
| Validation Efficiency |
98% (59/60) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,205,230 (GRCm39) |
D347V |
probably damaging |
Het |
| A630010A05Rik |
T |
A |
16: 14,427,558 (GRCm39) |
F82I |
possibly damaging |
Het |
| Acad9 |
T |
A |
3: 36,132,657 (GRCm39) |
F297L |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,660,200 (GRCm39) |
Y323F |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,915 (GRCm39) |
M1893K |
probably benign |
Het |
| Cactin |
A |
T |
10: 81,158,270 (GRCm39) |
|
probably null |
Het |
| Cadm4 |
A |
G |
7: 24,203,046 (GRCm39) |
*389W |
probably null |
Het |
| Calr4 |
A |
G |
4: 109,103,438 (GRCm39) |
T183A |
possibly damaging |
Het |
| Card10 |
A |
T |
15: 78,672,041 (GRCm39) |
|
probably benign |
Het |
| Cdh6 |
C |
A |
15: 13,091,924 (GRCm39) |
G14C |
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,946,245 (GRCm39) |
Y148C |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Cr1l |
A |
T |
1: 194,813,510 (GRCm39) |
L35Q |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,787,779 (GRCm39) |
R445G |
possibly damaging |
Het |
| Ddn |
G |
A |
15: 98,704,485 (GRCm39) |
T269M |
probably damaging |
Het |
| Epb41 |
G |
A |
4: 131,733,382 (GRCm39) |
S176L |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,344,769 (GRCm39) |
D167G |
probably damaging |
Het |
| Erbb4 |
G |
A |
1: 68,293,759 (GRCm39) |
R711C |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,109,620 (GRCm39) |
H549Q |
unknown |
Het |
| Gje1 |
A |
G |
10: 14,592,380 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
G |
A |
17: 79,060,622 (GRCm39) |
H2018Y |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,062,856 (GRCm39) |
|
probably benign |
Het |
| Hectd3 |
G |
T |
4: 116,853,593 (GRCm39) |
R189L |
probably benign |
Het |
| Hsd3b6 |
T |
C |
3: 98,715,237 (GRCm39) |
T52A |
probably benign |
Het |
| Il10rb |
T |
G |
16: 91,218,675 (GRCm39) |
|
probably null |
Het |
| Kcnc2 |
T |
C |
10: 112,291,506 (GRCm39) |
|
probably benign |
Het |
| Lpl |
T |
A |
8: 69,345,399 (GRCm39) |
D134E |
probably damaging |
Het |
| Lrit1 |
T |
C |
14: 36,783,928 (GRCm39) |
F419L |
probably benign |
Het |
| Mmp8 |
T |
C |
9: 7,567,264 (GRCm39) |
C422R |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,923,117 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
A |
11: 62,294,632 (GRCm39) |
I280F |
probably damaging |
Het |
| Obox2 |
A |
C |
7: 15,130,957 (GRCm39) |
Q63P |
possibly damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or4d2b |
T |
A |
11: 87,780,585 (GRCm39) |
I46L |
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,577,616 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,804,386 (GRCm39) |
F1735S |
probably damaging |
Het |
| Pramel11 |
G |
T |
4: 143,623,461 (GRCm39) |
L238I |
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,192,712 (GRCm39) |
Y156C |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,333,226 (GRCm39) |
S2812P |
probably damaging |
Het |
| Rttn |
A |
G |
18: 89,060,991 (GRCm39) |
D1053G |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,697,882 (GRCm39) |
N120S |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,070,158 (GRCm39) |
|
probably benign |
Het |
| Spindoc |
G |
T |
19: 7,360,086 (GRCm39) |
D27E |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,115,754 (GRCm39) |
T980A |
possibly damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,393,259 (GRCm39) |
E46G |
probably benign |
Het |
| Tmem183a |
T |
C |
1: 134,289,284 (GRCm39) |
I49V |
probably benign |
Het |
| Tmem212 |
C |
T |
3: 27,939,244 (GRCm39) |
V81I |
possibly damaging |
Het |
| Toporsl |
T |
A |
4: 52,610,254 (GRCm39) |
I49N |
probably benign |
Het |
| Trim67 |
A |
G |
8: 125,549,932 (GRCm39) |
T521A |
probably benign |
Het |
| Vsnl1 |
T |
C |
12: 11,382,219 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
T |
C |
7: 29,229,380 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp131 |
A |
T |
13: 120,251,784 (GRCm39) |
C9S |
probably damaging |
Het |
| Zfp750 |
C |
T |
11: 121,402,873 (GRCm39) |
S625N |
probably damaging |
Het |
| Zfp871 |
G |
T |
17: 32,993,900 (GRCm39) |
T406N |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGAGCAAGGTAACAACAGTAAAC -3'
(R):5'- TGGCAAAACATTGACAATGCAAACATCA -3'
Sequencing Primer
(F):5'- ACTACCTACCTAAGATGTGTGCTTTG -3'
(R):5'- gaaggcagaggcaagtgg -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation