Incidental Mutation 'R1216:Mtrex'
| ID |
99669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtrex
|
| Ensembl Gene |
ENSMUSG00000016018 |
| Gene Name |
Mtr4 exosome RNA helicase |
| Synonyms |
Skiv2l2, 2610528A15Rik |
| MMRRC Submission |
039285-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R1216 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
113004306-113063914 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 113050876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022281]
|
| AlphaFold |
Q9CZU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022281
|
| SMART Domains |
Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018
| 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: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
All alleles(16) : Targeted(2) Gene trapped(14)
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
T |
1: 11,868,716 (GRCm39) |
D332V |
probably damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,326,322 (GRCm39) |
Y53C |
probably benign |
Het |
| Arhgap23 |
T |
C |
11: 97,383,498 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
T |
C |
4: 126,710,276 (GRCm39) |
|
probably benign |
Het |
| B4galnt2 |
A |
G |
11: 95,782,767 (GRCm39) |
L15P |
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,583,472 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dppa4 |
T |
C |
16: 48,113,343 (GRCm39) |
F244S |
possibly damaging |
Het |
| Exoc1 |
A |
G |
5: 76,702,035 (GRCm39) |
K445R |
probably benign |
Het |
| Fam47e |
A |
G |
5: 92,710,343 (GRCm39) |
E114G |
probably damaging |
Het |
| Fgf12 |
A |
T |
16: 27,981,202 (GRCm39) |
N171K |
possibly damaging |
Het |
| Fyb2 |
G |
A |
4: 104,852,903 (GRCm39) |
V528M |
possibly damaging |
Het |
| Ghr |
A |
G |
15: 3,349,337 (GRCm39) |
S614P |
probably damaging |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Gpr152 |
T |
A |
19: 4,193,554 (GRCm39) |
V365D |
possibly damaging |
Het |
| Guca1a |
A |
G |
17: 47,706,637 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,310,997 (GRCm39) |
G1079D |
probably benign |
Het |
| Hnrnpm |
T |
C |
17: 33,868,687 (GRCm39) |
D580G |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,945,147 (GRCm39) |
D394E |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,672,108 (GRCm39) |
Y339* |
probably null |
Het |
| Kcnj11 |
C |
A |
7: 45,749,285 (GRCm39) |
V13L |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,554,191 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,709,473 (GRCm39) |
T161A |
probably benign |
Het |
| Ncapg |
G |
T |
5: 45,857,261 (GRCm39) |
S991I |
possibly damaging |
Het |
| Nrde2 |
G |
A |
12: 100,116,069 (GRCm39) |
|
probably benign |
Het |
| Or4c127 |
T |
A |
2: 89,832,822 (GRCm39) |
I24N |
probably benign |
Het |
| Or5d18 |
T |
C |
2: 87,864,602 (GRCm39) |
R294G |
probably damaging |
Het |
| Pcdhb7 |
A |
T |
18: 37,476,927 (GRCm39) |
T688S |
probably damaging |
Het |
| Pla2g6 |
T |
C |
15: 79,190,635 (GRCm39) |
D309G |
probably benign |
Het |
| Plod1 |
A |
T |
4: 148,005,584 (GRCm39) |
V404D |
probably damaging |
Het |
| Ppp2r2a |
G |
T |
14: 67,266,447 (GRCm39) |
Y71* |
probably null |
Het |
| Prcp |
A |
G |
7: 92,566,954 (GRCm39) |
N222S |
probably benign |
Het |
| Rad21 |
T |
C |
15: 51,833,532 (GRCm39) |
T316A |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,319,034 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
C |
A |
2: 72,038,492 (GRCm39) |
P548T |
possibly damaging |
Het |
| Ric1 |
G |
T |
19: 29,555,135 (GRCm39) |
M416I |
probably benign |
Het |
| Slc9a8 |
T |
C |
2: 167,266,041 (GRCm39) |
F6S |
probably benign |
Het |
| Smpdl3a |
T |
G |
10: 57,678,575 (GRCm39) |
I126S |
probably null |
Het |
| Sphkap |
A |
T |
1: 83,268,698 (GRCm39) |
L98Q |
probably damaging |
Het |
| Spink4 |
T |
G |
4: 40,924,974 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
A |
T |
10: 23,847,605 (GRCm39) |
L334F |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,289,203 (GRCm39) |
I454K |
probably benign |
Het |
| Ttc7 |
C |
T |
17: 87,654,006 (GRCm39) |
T561M |
possibly damaging |
Het |
| Vmn2r9 |
G |
T |
5: 108,995,440 (GRCm39) |
H403N |
probably damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,161 (GRCm39) |
C180Y |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTGAGTGGCCTGTTGATCTCC -3'
(R):5'- AAACAGCGTGTAATATTTACCAGCCCT -3'
Sequencing Primer
(F):5'- TGCCAAAACCATGTTACGTGC -3'
(R):5'- TTACCAGCCCTATTAAGGCTCTAAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation