Incidental Mutation 'R9679:Mtrex'
| ID |
728431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtrex
|
| Ensembl Gene |
ENSMUSG00000016018 |
| Gene Name |
Mtr4 exosome RNA helicase |
| Synonyms |
Skiv2l2, 2610528A15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R9679 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
113004306-113063914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113032055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 586
(S586P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022281]
|
| AlphaFold |
Q9CZU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022281
AA Change: S586P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018
AA Change: S586P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
37 |
N/A |
INTRINSIC |
|
DEXDc
|
134 |
317 |
6.42e-34 |
SMART |
|
HELICc
|
437 |
526 |
3.14e-19 |
SMART |
|
Pfam:rRNA_proc-arch
|
580 |
839 |
1.7e-91 |
PFAM |
|
DSHCT
|
863 |
1040 |
1.69e-96 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(16) : Targeted(2) Gene trapped(14)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
T |
A |
12: 113,509,542 (GRCm39) |
N638K |
probably benign |
Het |
| Arid5a |
A |
G |
1: 36,357,648 (GRCm39) |
K188E |
possibly damaging |
Het |
| Atp11a |
T |
C |
8: 12,909,388 (GRCm39) |
I1082T |
possibly damaging |
Het |
| Bdp1 |
T |
A |
13: 100,180,285 (GRCm39) |
I1845F |
probably damaging |
Het |
| Ccdc87 |
A |
C |
19: 4,891,299 (GRCm39) |
E597A |
probably benign |
Het |
| Cfap53 |
A |
T |
18: 74,492,656 (GRCm39) |
Q460L |
possibly damaging |
Het |
| Clcn1 |
G |
A |
6: 42,263,753 (GRCm39) |
S18N |
probably damaging |
Het |
| Cntnap3 |
C |
A |
13: 64,899,562 (GRCm39) |
C977F |
probably damaging |
Het |
| Colec11 |
C |
A |
12: 28,644,829 (GRCm39) |
V222L |
probably benign |
Het |
| Dchs2 |
G |
T |
3: 83,261,697 (GRCm39) |
S2655I |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,037,115 (GRCm39) |
T4227A |
probably benign |
Het |
| Dock5 |
G |
A |
14: 68,018,450 (GRCm39) |
R1242W |
probably damaging |
Het |
| Ebf3 |
T |
A |
7: 136,832,964 (GRCm39) |
N237I |
possibly damaging |
Het |
| F2rl3 |
T |
A |
8: 73,489,661 (GRCm39) |
L296Q |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,201,433 (GRCm39) |
I1328T |
probably damaging |
Het |
| Fes |
T |
C |
7: 80,033,050 (GRCm39) |
E258G |
probably benign |
Het |
| Gins4 |
G |
A |
8: 23,717,132 (GRCm39) |
A212V |
probably damaging |
Het |
| Il15 |
T |
C |
8: 83,071,094 (GRCm39) |
Y7C |
probably benign |
Het |
| Il9r |
T |
G |
11: 32,140,853 (GRCm39) |
H395P |
probably benign |
Het |
| Jade1 |
T |
C |
3: 41,567,569 (GRCm39) |
S546P |
probably damaging |
Het |
| Krt72 |
C |
T |
15: 101,685,152 (GRCm39) |
G469D |
probably damaging |
Het |
| Limd1 |
T |
A |
9: 123,308,457 (GRCm39) |
M52K |
probably damaging |
Het |
| Mamdc2 |
T |
C |
19: 23,351,380 (GRCm39) |
N182S |
probably benign |
Het |
| Mrpl14 |
A |
G |
17: 46,009,240 (GRCm39) |
N113S |
probably damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,280,048 (GRCm39) |
S837P |
possibly damaging |
Het |
| Muc21 |
A |
G |
17: 35,930,491 (GRCm39) |
S1232P |
unknown |
Het |
| Myh11 |
A |
T |
16: 14,095,436 (GRCm39) |
Y109N |
|
Het |
| Nfrkb |
C |
T |
9: 31,321,385 (GRCm39) |
T694M |
probably benign |
Het |
| Nlrp4b |
T |
G |
7: 10,449,184 (GRCm39) |
S462R |
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,345 (GRCm39) |
T194A |
probably benign |
Het |
| Or52e2 |
T |
C |
7: 102,804,652 (GRCm39) |
I101V |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,552,482 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or5h19 |
A |
G |
16: 58,856,521 (GRCm39) |
L193P |
possibly damaging |
Het |
| Or6c76 |
A |
G |
10: 129,611,882 (GRCm39) |
Y33C |
probably damaging |
Het |
| Rasip1 |
T |
C |
7: 45,277,327 (GRCm39) |
V45A |
possibly damaging |
Het |
| Rgs22 |
A |
G |
15: 36,087,587 (GRCm39) |
S568P |
probably benign |
Het |
| Sephs1 |
T |
A |
2: 4,898,105 (GRCm39) |
L172Q |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,847,223 (GRCm39) |
L137P |
probably damaging |
Het |
| Slc22a4 |
T |
C |
11: 53,881,599 (GRCm39) |
Y373C |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 65,998,002 (GRCm39) |
D410G |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,606,582 (GRCm39) |
A101D |
probably damaging |
Het |
| Surf4 |
A |
G |
2: 26,814,364 (GRCm39) |
F179S |
probably benign |
Het |
| Taf8 |
C |
T |
17: 47,801,101 (GRCm39) |
R294Q |
unknown |
Het |
| Tnr |
A |
G |
1: 159,719,608 (GRCm39) |
T962A |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,711,618 (GRCm39) |
I51K |
possibly damaging |
Het |
| Traf7 |
CA |
CAA |
17: 24,746,737 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,394,369 (GRCm39) |
Y2305N |
|
Het |
| Vil1 |
C |
A |
1: 74,469,833 (GRCm39) |
Q740K |
probably benign |
Het |
| Vmn1r236 |
T |
C |
17: 21,507,286 (GRCm39) |
F135L |
possibly damaging |
Het |
| Vmn1r57 |
A |
C |
7: 5,224,230 (GRCm39) |
I252L |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,460,741 (GRCm39) |
L689P |
probably benign |
Het |
| Wdr1 |
A |
G |
5: 38,685,216 (GRCm39) |
L585P |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,450,358 (GRCm39) |
I1057V |
probably benign |
Het |
|
| Other mutations in Mtrex |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01077:Mtrex
|
APN |
13 |
113,051,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01772:Mtrex
|
APN |
13 |
113,027,859 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01843:Mtrex
|
APN |
13 |
113,055,095 (GRCm39) |
splice site |
probably benign |
|
|
IGL01972:Mtrex
|
APN |
13 |
113,017,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02451:Mtrex
|
APN |
13 |
113,027,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Mtrex
|
APN |
13 |
113,019,680 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03234:Mtrex
|
APN |
13 |
113,017,509 (GRCm39) |
splice site |
probably benign |
|
|
K3955:Mtrex
|
UTSW |
13 |
113,047,513 (GRCm39) |
nonsense |
probably null |
|
|
P0038:Mtrex
|
UTSW |
13 |
113,047,513 (GRCm39) |
nonsense |
probably null |
|
|
R0067:Mtrex
|
UTSW |
13 |
113,023,396 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0067:Mtrex
|
UTSW |
13 |
113,023,396 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0086:Mtrex
|
UTSW |
13 |
113,063,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0687:Mtrex
|
UTSW |
13 |
113,050,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1216:Mtrex
|
UTSW |
13 |
113,050,876 (GRCm39) |
splice site |
probably benign |
|
|
R1218:Mtrex
|
UTSW |
13 |
113,054,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1312:Mtrex
|
UTSW |
13 |
113,019,785 (GRCm39) |
nonsense |
probably null |
|
|
R1827:Mtrex
|
UTSW |
13 |
113,049,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1852:Mtrex
|
UTSW |
13 |
113,009,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1889:Mtrex
|
UTSW |
13 |
113,024,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2205:Mtrex
|
UTSW |
13 |
113,035,424 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2256:Mtrex
|
UTSW |
13 |
113,013,046 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2394:Mtrex
|
UTSW |
13 |
113,019,702 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3717:Mtrex
|
UTSW |
13 |
113,032,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3779:Mtrex
|
UTSW |
13 |
113,039,926 (GRCm39) |
splice site |
probably benign |
|
|
R4613:Mtrex
|
UTSW |
13 |
113,058,273 (GRCm39) |
nonsense |
probably null |
|
|
R4939:Mtrex
|
UTSW |
13 |
113,046,426 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5452:Mtrex
|
UTSW |
13 |
113,049,715 (GRCm39) |
missense |
probably null |
0.96 |
|
R5591:Mtrex
|
UTSW |
13 |
113,063,890 (GRCm39) |
start codon destroyed |
probably null |
0.88 |
|
R5688:Mtrex
|
UTSW |
13 |
113,009,590 (GRCm39) |
nonsense |
probably null |
|
|
R5761:Mtrex
|
UTSW |
13 |
113,054,196 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5789:Mtrex
|
UTSW |
13 |
113,027,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5851:Mtrex
|
UTSW |
13 |
113,045,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Mtrex
|
UTSW |
13 |
113,027,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6038:Mtrex
|
UTSW |
13 |
113,027,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6348:Mtrex
|
UTSW |
13 |
113,047,451 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7276:Mtrex
|
UTSW |
13 |
113,050,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7397:Mtrex
|
UTSW |
13 |
113,058,220 (GRCm39) |
missense |
probably benign |
|
|
R7792:Mtrex
|
UTSW |
13 |
113,009,443 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7863:Mtrex
|
UTSW |
13 |
113,045,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7948:Mtrex
|
UTSW |
13 |
113,058,296 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8035:Mtrex
|
UTSW |
13 |
113,035,336 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8124:Mtrex
|
UTSW |
13 |
113,063,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8152:Mtrex
|
UTSW |
13 |
113,009,517 (GRCm39) |
nonsense |
probably null |
|
|
R8189:Mtrex
|
UTSW |
13 |
113,028,515 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8880:Mtrex
|
UTSW |
13 |
113,051,034 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9228:Mtrex
|
UTSW |
13 |
113,050,888 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9281:Mtrex
|
UTSW |
13 |
113,046,443 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGTCTGTAAAGGCTAGACTAC -3'
(R):5'- CTTTGAACCACTATATCCCTACTGG -3'
Sequencing Primer
(F):5'- GTCTGTAAAGGCTAGACTACAATTC -3'
(R):5'- GGACTCTCTTTGTAGACCAGGAAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation