Incidental Mutation 'R1218:Mtrex'
| ID |
99854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtrex
|
| Ensembl Gene |
ENSMUSG00000016018 |
| Gene Name |
Mtr4 exosome RNA helicase |
| Synonyms |
Skiv2l2, 2610528A15Rik |
| MMRRC Submission |
039287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R1218 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
113004306-113063914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 113054156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 159
(A159V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022281]
|
| AlphaFold |
Q9CZU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022281
AA Change: A159V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018
AA Change: A159V
| 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 |
- 1x: 99.2%
- 3x: 97.9%
- 10x: 93.3%
- 20x: 80.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(16) : Targeted(2) Gene trapped(14)
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
T |
15: 81,948,353 (GRCm39) |
T750I |
probably benign |
Het |
| 5330417H12Rik |
T |
C |
7: 107,224,024 (GRCm39) |
|
probably benign |
Het |
| 9230109A22Rik |
C |
T |
15: 25,139,024 (GRCm39) |
|
noncoding transcript |
Het |
| Ahnak |
A |
G |
19: 8,992,983 (GRCm39) |
K4756E |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,220,169 (GRCm39) |
|
probably null |
Het |
| Bmp6 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
13: 38,530,226 (GRCm39) |
|
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cbfa2t2 |
A |
T |
2: 154,365,839 (GRCm39) |
M350L |
probably benign |
Het |
| Ceacam20 |
A |
T |
7: 19,710,022 (GRCm39) |
M349L |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,118,495 (GRCm39) |
V768A |
probably benign |
Het |
| Chd1 |
G |
T |
17: 15,945,574 (GRCm39) |
G33C |
probably damaging |
Het |
| Dhx40 |
A |
G |
11: 86,690,310 (GRCm39) |
V237A |
probably benign |
Het |
| Dlst |
G |
T |
12: 85,170,638 (GRCm39) |
D256Y |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,026,678 (GRCm39) |
S1929T |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,654,858 (GRCm39) |
I551N |
probably damaging |
Het |
| Faap100 |
T |
C |
11: 120,269,166 (GRCm39) |
D91G |
probably benign |
Het |
| Fbn1 |
T |
G |
2: 125,254,669 (GRCm39) |
Q198P |
possibly damaging |
Het |
| Flrt2 |
A |
G |
12: 95,745,727 (GRCm39) |
I22V |
probably benign |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| H2bc3 |
A |
G |
13: 23,931,142 (GRCm39) |
Y122C |
probably benign |
Het |
| Inava |
A |
T |
1: 136,142,140 (GRCm39) |
V653E |
probably damaging |
Het |
| Kcnn1 |
T |
C |
8: 71,305,332 (GRCm39) |
I293V |
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Mcpt9 |
G |
T |
14: 56,266,125 (GRCm39) |
Y34* |
probably null |
Het |
| Mepe |
A |
T |
5: 104,474,939 (GRCm39) |
M7L |
probably benign |
Het |
| Mprip |
A |
G |
11: 59,634,640 (GRCm39) |
Y383C |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,083,351 (GRCm39) |
D1438V |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,542,345 (GRCm39) |
Y205C |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,854,693 (GRCm39) |
D510G |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,351 (GRCm39) |
D162G |
probably damaging |
Het |
| Oscp1 |
T |
C |
4: 125,952,532 (GRCm39) |
V20A |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,214 (GRCm39) |
L430P |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,849,808 (GRCm39) |
D354G |
possibly damaging |
Het |
| Rims1 |
C |
A |
1: 22,522,256 (GRCm39) |
V481F |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,785,534 (GRCm39) |
I1719T |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,480,021 (GRCm39) |
H400R |
probably benign |
Het |
| Snx33 |
A |
G |
9: 56,833,269 (GRCm39) |
Y267H |
probably damaging |
Het |
| Sstr1 |
T |
A |
12: 58,260,406 (GRCm39) |
M343K |
possibly damaging |
Het |
| Stx6 |
T |
C |
1: 155,077,737 (GRCm39) |
V248A |
probably benign |
Het |
| Tbx5 |
C |
T |
5: 119,976,785 (GRCm39) |
L58F |
probably damaging |
Het |
| Tmem241 |
A |
G |
18: 12,197,271 (GRCm39) |
Y186H |
probably damaging |
Het |
| Tnfaip8l3 |
T |
C |
9: 53,934,760 (GRCm39) |
K72E |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,753,219 (GRCm39) |
I1848N |
probably damaging |
Het |
| Xrcc6 |
G |
A |
15: 81,907,142 (GRCm39) |
V155I |
probably benign |
Het |
| Zfp458 |
T |
C |
13: 67,404,273 (GRCm39) |
E722G |
probably damaging |
Het |
| Zfyve1 |
G |
T |
12: 83,594,825 (GRCm39) |
H722Q |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTAAACTCGTGCAGACGTGAAG -3'
(R):5'- CGGCCTGTACCGTTGTTGGATAAAC -3'
Sequencing Primer
(F):5'- tttaatgaaggcaagagaaaagaaac -3'
(R):5'- TCATAAGGGAATCCTAGACTGCTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation