Incidental Mutation 'R8035:Mtrex'
ID |
618201 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtrex
|
Ensembl Gene |
ENSMUSG00000016018 |
Gene Name |
Mtr4 exosome RNA helicase |
Synonyms |
Skiv2l2, 2610528A15Rik |
MMRRC Submission |
067472-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R8035 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
113004306-113063914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113035336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 539
(E539G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022281]
|
AlphaFold |
Q9CZU3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022281
AA Change: E539G
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000022281 Gene: ENSMUSG00000016018 AA Change: E539G
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: 99.1%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
All alleles(16) : Targeted(2) Gene trapped(14)
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,530,243 (GRCm39) |
V938A |
probably damaging |
Het |
Acot7 |
A |
G |
4: 152,337,611 (GRCm39) |
T254A |
possibly damaging |
Het |
Ankle2 |
C |
T |
5: 110,402,318 (GRCm39) |
R943C |
probably damaging |
Het |
Arrdc2 |
T |
C |
8: 71,292,026 (GRCm39) |
K7R |
probably benign |
Het |
Arsi |
T |
A |
18: 61,049,442 (GRCm39) |
H108Q |
probably damaging |
Het |
Asap3 |
T |
C |
4: 135,968,514 (GRCm39) |
Y689H |
probably benign |
Het |
Bnip3 |
G |
A |
7: 138,493,666 (GRCm39) |
T181I |
probably damaging |
Het |
C87436 |
T |
C |
6: 86,424,337 (GRCm39) |
S290P |
probably benign |
Het |
Ccdc168 |
A |
G |
1: 44,100,711 (GRCm39) |
V129A |
possibly damaging |
Het |
Ccdc6 |
A |
G |
10: 69,933,331 (GRCm39) |
I68V |
probably benign |
Het |
Ccr3 |
T |
C |
9: 123,829,012 (GRCm39) |
F116L |
probably benign |
Het |
Cdh9 |
G |
T |
15: 16,831,152 (GRCm39) |
V330F |
probably damaging |
Het |
Cdkn1a |
T |
C |
17: 29,318,350 (GRCm39) |
C155R |
possibly damaging |
Het |
Ctr9 |
C |
T |
7: 110,633,664 (GRCm39) |
A165V |
probably damaging |
Het |
Cyp2b19 |
G |
A |
7: 26,470,675 (GRCm39) |
G439R |
probably damaging |
Het |
Fam161b |
A |
T |
12: 84,395,430 (GRCm39) |
D504E |
probably damaging |
Het |
Fdps |
G |
T |
3: 89,002,783 (GRCm39) |
P122T |
probably benign |
Het |
Fmn2 |
T |
C |
1: 174,547,437 (GRCm39) |
Y1454H |
probably damaging |
Het |
Gipc2 |
T |
C |
3: 151,799,866 (GRCm39) |
E288G |
probably damaging |
Het |
Gm21411 |
A |
C |
4: 146,982,167 (GRCm39) |
|
probably null |
Het |
Hnrnpc |
C |
T |
14: 52,321,719 (GRCm39) |
D32N |
possibly damaging |
Het |
Hspa12b |
T |
A |
2: 130,982,859 (GRCm39) |
I239N |
probably damaging |
Het |
Hspb8 |
T |
C |
5: 116,553,485 (GRCm39) |
N138D |
probably damaging |
Het |
Igkv4-69 |
T |
C |
6: 69,260,921 (GRCm39) |
I69V |
possibly damaging |
Het |
Itih1 |
A |
C |
14: 30,664,482 (GRCm39) |
D81E |
probably benign |
Het |
Kdm3b |
T |
C |
18: 34,941,781 (GRCm39) |
L624S |
probably damaging |
Het |
Klk6 |
A |
G |
7: 43,478,086 (GRCm39) |
M153V |
probably benign |
Het |
Lgals9 |
A |
T |
11: 78,854,302 (GRCm39) |
Y327* |
probably null |
Het |
Lims1 |
T |
A |
10: 58,246,263 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,750,667 (GRCm39) |
I3080F |
|
Het |
Mars2 |
C |
T |
1: 55,277,456 (GRCm39) |
T353I |
possibly damaging |
Het |
Matn4 |
T |
C |
2: 164,238,960 (GRCm39) |
N307S |
probably damaging |
Het |
Mettl17 |
C |
T |
14: 52,128,947 (GRCm39) |
H406Y |
probably damaging |
Het |
Mtor |
T |
A |
4: 148,630,856 (GRCm39) |
M2271K |
probably benign |
Het |
Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
Or56a3b |
T |
A |
7: 104,770,757 (GRCm39) |
L31H |
probably damaging |
Het |
Or5b118 |
T |
C |
19: 13,449,263 (GRCm39) |
F310L |
probably benign |
Het |
Or6k4 |
A |
T |
1: 173,964,490 (GRCm39) |
Y60F |
probably damaging |
Het |
Or8b38 |
C |
T |
9: 37,972,961 (GRCm39) |
T115I |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,806,109 (GRCm39) |
K1030R |
probably damaging |
Het |
Rap1gds1 |
A |
T |
3: 138,721,311 (GRCm39) |
D119E |
probably damaging |
Het |
Rgs9 |
A |
G |
11: 109,164,150 (GRCm39) |
I151T |
probably benign |
Het |
Slc26a7 |
A |
C |
4: 14,621,338 (GRCm39) |
M16R |
possibly damaging |
Het |
Slx4ip |
T |
G |
2: 136,885,945 (GRCm39) |
Y88* |
probably null |
Het |
Sppl2c |
T |
A |
11: 104,078,192 (GRCm39) |
W331R |
probably benign |
Het |
Srcap |
T |
C |
7: 127,141,784 (GRCm39) |
S1855P |
probably benign |
Het |
Svs5 |
A |
G |
2: 164,079,053 (GRCm39) |
F285L |
probably benign |
Het |
Tjp1 |
G |
T |
7: 64,992,450 (GRCm39) |
A76E |
probably benign |
Het |
Trip13 |
G |
C |
13: 74,061,373 (GRCm39) |
A430G |
probably benign |
Het |
Trpm6 |
A |
G |
19: 18,770,226 (GRCm39) |
E337G |
probably damaging |
Het |
Tut7 |
A |
T |
13: 59,937,004 (GRCm39) |
N1214K |
probably benign |
Het |
Vmn1r37 |
T |
A |
6: 66,708,377 (GRCm39) |
M1K |
probably null |
Het |
Wdr72 |
T |
G |
9: 74,086,783 (GRCm39) |
|
probably benign |
Het |
Zfp583 |
T |
C |
7: 6,319,771 (GRCm39) |
K414E |
probably damaging |
Het |
Zfp940 |
A |
C |
7: 29,544,948 (GRCm39) |
S320A |
probably benign |
Het |
Zfp979 |
A |
C |
4: 147,697,763 (GRCm39) |
C315W |
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 |
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 |
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'- ACAGCTATAGACTATCAACCCATTT -3'
(R):5'- CTTTGTTTACCAAAAGTCCATGTTT -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2020-01-23 |