Incidental Mutation 'IGL01077:Mtrex'
ID |
52538 |
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 # |
IGL01077
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
113004306-113063914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 113051023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 184
(I184K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022281]
|
AlphaFold |
Q9CZU3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022281
AA Change: I184K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022281 Gene: ENSMUSG00000016018 AA Change: I184K
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225997
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(16) : Targeted(2) Gene trapped(14)
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
A |
T |
1: 58,096,569 (GRCm39) |
|
probably benign |
Het |
Arhgap4 |
A |
G |
X: 72,943,699 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
G |
10: 50,525,413 (GRCm39) |
|
probably benign |
Het |
Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
Car10 |
T |
C |
11: 93,487,969 (GRCm39) |
I222T |
possibly damaging |
Het |
Cep250 |
G |
A |
2: 155,804,054 (GRCm39) |
V55M |
probably damaging |
Het |
Chst4 |
T |
A |
8: 110,756,597 (GRCm39) |
Y422F |
probably benign |
Het |
Dnajc13 |
T |
C |
9: 104,108,220 (GRCm39) |
E185G |
probably benign |
Het |
Dtx2 |
T |
A |
5: 136,058,057 (GRCm39) |
M454K |
possibly damaging |
Het |
Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
Ganc |
C |
T |
2: 120,276,996 (GRCm39) |
T686M |
possibly damaging |
Het |
Gm53 |
C |
T |
11: 96,142,594 (GRCm39) |
|
noncoding transcript |
Het |
Gria3 |
T |
C |
X: 40,677,369 (GRCm39) |
V254A |
possibly damaging |
Het |
H2-DMb2 |
G |
T |
17: 34,367,587 (GRCm39) |
A3S |
probably damaging |
Het |
H2-DMb2 |
A |
G |
17: 34,366,694 (GRCm39) |
Y42C |
probably damaging |
Het |
Myzap |
T |
C |
9: 71,454,042 (GRCm39) |
E343G |
probably damaging |
Het |
Nap1l2 |
T |
C |
X: 102,228,922 (GRCm39) |
D332G |
probably benign |
Het |
Npr1 |
T |
G |
3: 90,365,669 (GRCm39) |
D628A |
probably damaging |
Het |
Raet1e |
T |
C |
10: 22,057,219 (GRCm39) |
L181S |
probably damaging |
Het |
Rnf43 |
G |
T |
11: 87,622,718 (GRCm39) |
M606I |
probably benign |
Het |
Serpinb6b |
G |
A |
13: 33,162,049 (GRCm39) |
D283N |
possibly damaging |
Het |
Slit2 |
A |
G |
5: 48,374,785 (GRCm39) |
|
probably null |
Het |
Supt5 |
C |
T |
7: 28,023,213 (GRCm39) |
W323* |
probably null |
Het |
Svep1 |
T |
A |
4: 58,068,760 (GRCm39) |
I3009F |
possibly damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tll1 |
T |
C |
8: 64,523,266 (GRCm39) |
Y482C |
probably benign |
Het |
Trappc8 |
G |
A |
18: 20,970,035 (GRCm39) |
T985I |
probably benign |
Het |
Zfp945 |
T |
C |
17: 23,071,359 (GRCm39) |
K180R |
probably damaging |
Het |
|
Other mutations in Mtrex |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R9679:Mtrex
|
UTSW |
13 |
113,032,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |