Incidental Mutation 'IGL02451:Mtrex'
| ID |
293631 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtrex
|
| Ensembl Gene |
ENSMUSG00000016018 |
| Gene Name |
Mtr4 exosome RNA helicase |
| Synonyms |
Skiv2l2, 2610528A15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL02451
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
113004306-113063914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 113027881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 660
(V660M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022281]
|
| AlphaFold |
Q9CZU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022281
AA Change: V660M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018
AA Change: V660M
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(16) : Targeted(2) Gene trapped(14)
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
G |
5: 138,561,809 (GRCm39) |
T126P |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,782,563 (GRCm39) |
|
probably benign |
Het |
| B430305J03Rik |
A |
G |
3: 61,271,562 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,664,741 (GRCm39) |
F47L |
possibly damaging |
Het |
| Bcl2l14 |
G |
T |
6: 134,400,804 (GRCm39) |
G75V |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,694,901 (GRCm39) |
H4R |
probably benign |
Het |
| Champ1 |
C |
A |
8: 13,928,739 (GRCm39) |
P299Q |
probably damaging |
Het |
| Cimap3 |
T |
A |
3: 105,921,820 (GRCm39) |
E34D |
probably benign |
Het |
| Cldnd2 |
A |
G |
7: 43,091,082 (GRCm39) |
K5E |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,642,631 (GRCm39) |
L401* |
probably null |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Enpp4 |
A |
T |
17: 44,412,315 (GRCm39) |
L298H |
probably damaging |
Het |
| Git1 |
T |
C |
11: 77,391,513 (GRCm39) |
C222R |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,076,635 (GRCm39) |
T189A |
probably damaging |
Het |
| Hgfac |
T |
G |
5: 35,201,158 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
T |
A |
4: 119,991,162 (GRCm39) |
S2221T |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,604 (GRCm39) |
Y124H |
probably damaging |
Het |
| Il1a |
T |
C |
2: 129,148,575 (GRCm39) |
E45G |
probably damaging |
Het |
| Itga11 |
T |
A |
9: 62,642,635 (GRCm39) |
I186N |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Mapk13 |
A |
G |
17: 28,995,387 (GRCm39) |
T203A |
probably damaging |
Het |
| Mrpl37 |
T |
A |
4: 106,923,839 (GRCm39) |
I52F |
probably damaging |
Het |
| Nr1i2 |
A |
G |
16: 38,069,654 (GRCm39) |
F417L |
probably benign |
Het |
| Or10ag59 |
T |
A |
2: 87,405,576 (GRCm39) |
S49R |
probably benign |
Het |
| Or6c215 |
G |
A |
10: 129,637,702 (GRCm39) |
Q231* |
probably null |
Het |
| Osbpl1a |
T |
C |
18: 13,047,550 (GRCm39) |
|
probably benign |
Het |
| Parg |
C |
T |
14: 31,964,186 (GRCm39) |
T112M |
probably damaging |
Het |
| Pou6f1 |
T |
C |
15: 100,477,821 (GRCm39) |
T166A |
possibly damaging |
Het |
| Prtg |
A |
G |
9: 72,764,281 (GRCm39) |
I585V |
possibly damaging |
Het |
| Ptpru |
T |
G |
4: 131,504,086 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
T |
C |
7: 100,285,970 (GRCm39) |
|
probably null |
Het |
| Rnf207 |
C |
T |
4: 152,396,869 (GRCm39) |
R425H |
probably benign |
Het |
| Rusf1 |
A |
G |
7: 127,875,582 (GRCm39) |
L257P |
probably damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,420,912 (GRCm39) |
M468V |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,441 (GRCm39) |
H108R |
possibly damaging |
Het |
| Sned1 |
A |
G |
1: 93,163,930 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,065,014 (GRCm39) |
F2095Y |
probably null |
Het |
| Sspo |
A |
T |
6: 48,437,237 (GRCm39) |
|
probably benign |
Het |
| Tbx19 |
A |
G |
1: 164,967,740 (GRCm39) |
S336P |
probably benign |
Het |
| Tmem101 |
T |
A |
11: 102,044,119 (GRCm39) |
D256V |
probably damaging |
Het |
| Trbv20 |
T |
G |
6: 41,165,210 (GRCm39) |
L2V |
unknown |
Het |
| Trpc7 |
A |
G |
13: 56,970,274 (GRCm39) |
S382P |
probably damaging |
Het |
| Tut4 |
C |
A |
4: 108,386,473 (GRCm39) |
Y1114* |
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,040,095 (GRCm39) |
T91A |
possibly damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,788 (GRCm39) |
R721* |
probably null |
Het |
| Vmn2r94 |
T |
A |
17: 18,478,453 (GRCm39) |
Y98F |
possibly damaging |
Het |
| Zfp532 |
A |
G |
18: 65,756,672 (GRCm39) |
R202G |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,787,601 (GRCm39) |
S256P |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,792,214 (GRCm39) |
I2266T |
probably damaging |
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 |
|
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 |
|
|
R9679:Mtrex
|
UTSW |
13 |
113,032,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation