Incidental Mutation 'R1312:Mtrex'
| ID |
157975 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtrex
|
| Ensembl Gene |
ENSMUSG00000016018 |
| Gene Name |
Mtr4 exosome RNA helicase |
| Synonyms |
Skiv2l2, 2610528A15Rik |
| MMRRC Submission |
039378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R1312 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
113004306-113063914 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 113019785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 775
(L775*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022281]
|
| AlphaFold |
Q9CZU3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022281
AA Change: L775*
|
| SMART Domains |
Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018
AA Change: L775*
| 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: ENSMUST00000182295
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224639
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 85.7%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
All alleles(16) : Targeted(2) Gene trapped(14)
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
T |
4: 103,127,994 (GRCm39) |
F44I |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,585 (GRCm39) |
V52A |
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,166,608 (GRCm39) |
V415A |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,767,625 (GRCm39) |
D750G |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,188 (GRCm39) |
|
probably benign |
Het |
| Edem2 |
T |
G |
2: 155,544,505 (GRCm39) |
D415A |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,781,219 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,203,179 (GRCm39) |
F272S |
probably damaging |
Het |
| Fcamr |
C |
T |
1: 130,739,224 (GRCm39) |
R175C |
probably damaging |
Het |
| Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
| Fry |
T |
C |
5: 150,326,897 (GRCm39) |
|
probably benign |
Het |
| Gm14443 |
A |
T |
2: 175,013,383 (GRCm39) |
|
probably benign |
Het |
| Ift70a2 |
A |
T |
2: 75,806,676 (GRCm39) |
V612D |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,707,797 (GRCm39) |
T80A |
probably damaging |
Het |
| Itih2 |
T |
A |
2: 10,102,735 (GRCm39) |
T800S |
probably benign |
Het |
| Lgals9 |
G |
A |
11: 78,867,443 (GRCm39) |
Q42* |
probably null |
Het |
| Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,526,398 (GRCm39) |
|
probably benign |
Het |
| Mkx |
T |
A |
18: 6,937,192 (GRCm39) |
D284V |
probably benign |
Het |
| Or11g27 |
T |
A |
14: 50,771,652 (GRCm39) |
I261K |
probably benign |
Het |
| Pde1b |
T |
G |
15: 103,434,700 (GRCm39) |
S339A |
possibly damaging |
Het |
| Plch2 |
C |
T |
4: 155,074,256 (GRCm39) |
V765M |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,123,358 (GRCm39) |
Q18L |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,757,687 (GRCm39) |
|
probably null |
Het |
| Pwp1 |
G |
A |
10: 85,715,173 (GRCm39) |
D220N |
probably damaging |
Het |
| Rel |
G |
A |
11: 23,707,010 (GRCm39) |
T64I |
probably damaging |
Het |
| Rho |
C |
G |
6: 115,912,566 (GRCm39) |
N160K |
probably damaging |
Het |
| Sntb2 |
A |
G |
8: 107,728,209 (GRCm39) |
T386A |
probably damaging |
Het |
| Styxl2 |
A |
T |
1: 165,926,860 (GRCm39) |
N917K |
possibly damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn1r167 |
A |
G |
7: 23,204,548 (GRCm39) |
F156S |
probably benign |
Het |
| Vrk2 |
G |
A |
11: 26,485,522 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,906,023 (GRCm39) |
N63D |
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 |
|
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 |
|
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'- TGGAACCTTACAGCCAAGCAGGAC -3'
(R):5'- TGCCGTGGAAAATTGCTCTCCAG -3'
Sequencing Primer
(F):5'- cacacacacacacgcac -3'
(R):5'- AAAATTGCTCTCCAGTTGTGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation