Incidental Mutation 'R0067:Mtrex'
| ID |
59664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtrex
|
| Ensembl Gene |
ENSMUSG00000016018 |
| Gene Name |
Mtr4 exosome RNA helicase |
| Synonyms |
Skiv2l2, 2610528A15Rik |
| MMRRC Submission |
038358-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R0067 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
113004306-113063914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 113023396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 727
(V727I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022281]
|
| AlphaFold |
Q9CZU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022281
AA Change: V727I
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022281
Gene: ENSMUSG00000016018
AA Change: V727I
| 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
|
| Meta Mutation Damage Score |
0.0704 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
All alleles(16) : Targeted(2) Gene trapped(14)
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
C |
T |
7: 28,610,995 (GRCm39) |
V248M |
possibly damaging |
Het |
| Adamts9 |
T |
A |
6: 92,867,148 (GRCm39) |
K79N |
probably damaging |
Het |
| AW209491 |
A |
T |
13: 14,812,328 (GRCm39) |
I394F |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,796,967 (GRCm39) |
|
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,265,373 (GRCm39) |
I1542F |
probably damaging |
Het |
| Cep97 |
A |
T |
16: 55,735,924 (GRCm39) |
N291K |
possibly damaging |
Het |
| Clasp2 |
A |
T |
9: 113,689,209 (GRCm39) |
|
probably benign |
Het |
| Coq8b |
T |
C |
7: 26,932,906 (GRCm39) |
L5P |
possibly damaging |
Het |
| Dennd1c |
T |
C |
17: 57,382,465 (GRCm39) |
Q67R |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,040,313 (GRCm39) |
V119A |
possibly damaging |
Het |
| Eml1 |
A |
G |
12: 108,429,786 (GRCm39) |
D23G |
possibly damaging |
Het |
| Eva1c |
A |
T |
16: 90,663,305 (GRCm39) |
D13V |
possibly damaging |
Het |
| Fam151b |
T |
C |
13: 92,610,504 (GRCm39) |
K95R |
probably benign |
Het |
| Glo1 |
A |
T |
17: 30,813,245 (GRCm39) |
|
probably null |
Het |
| Gm11360 |
T |
A |
13: 28,140,214 (GRCm39) |
M26K |
probably benign |
Het |
| Gps2 |
C |
T |
11: 69,805,607 (GRCm39) |
Q42* |
probably null |
Het |
| Gypa |
A |
G |
8: 81,229,710 (GRCm39) |
H102R |
possibly damaging |
Het |
| Hdac4 |
G |
A |
1: 91,957,706 (GRCm39) |
H103Y |
probably damaging |
Het |
| Hivep1 |
T |
A |
13: 42,312,132 (GRCm39) |
D1457E |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,244,200 (GRCm39) |
D110G |
probably damaging |
Het |
| L3mbtl1 |
A |
G |
2: 162,790,748 (GRCm39) |
K225E |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,131,965 (GRCm39) |
S143G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,369,041 (GRCm39) |
K342E |
possibly damaging |
Het |
| Mc5r |
T |
A |
18: 68,472,637 (GRCm39) |
M332K |
probably damaging |
Het |
| Memo1 |
A |
G |
17: 74,532,453 (GRCm39) |
V185A |
probably damaging |
Het |
| Myf6 |
A |
T |
10: 107,329,340 (GRCm39) |
|
probably null |
Het |
| Myh14 |
G |
A |
7: 44,272,551 (GRCm39) |
T1418I |
probably benign |
Het |
| Pbk |
G |
A |
14: 66,052,675 (GRCm39) |
V173I |
possibly damaging |
Het |
| Plekha5 |
C |
T |
6: 140,470,629 (GRCm39) |
T90I |
probably damaging |
Het |
| Ptbp2 |
T |
C |
3: 119,514,290 (GRCm39) |
T478A |
probably benign |
Het |
| Rasgrp1 |
C |
A |
2: 117,125,301 (GRCm39) |
R246S |
probably damaging |
Het |
| Rflnb |
A |
T |
11: 75,912,987 (GRCm39) |
S134T |
possibly damaging |
Het |
| Rnf214 |
A |
G |
9: 45,778,796 (GRCm39) |
|
probably null |
Het |
| Rps6ka5 |
T |
A |
12: 100,582,342 (GRCm39) |
I177F |
probably damaging |
Het |
| Rtn2 |
T |
A |
7: 19,028,396 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,111,364 (GRCm39) |
T165A |
probably damaging |
Het |
| Scamp1 |
T |
C |
13: 94,340,658 (GRCm39) |
Y237C |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,568,753 (GRCm39) |
F321L |
probably benign |
Het |
| Slc36a2 |
A |
G |
11: 55,053,466 (GRCm39) |
|
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,745,188 (GRCm39) |
V672A |
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Sp140l2 |
T |
A |
1: 85,247,773 (GRCm39) |
N5Y |
probably benign |
Het |
| Spats2 |
C |
A |
15: 99,110,168 (GRCm39) |
P522T |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,839,352 (GRCm39) |
E339D |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,872 (GRCm39) |
T241A |
probably damaging |
Het |
| Ticrr |
A |
T |
7: 79,327,158 (GRCm39) |
D622V |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,333,477 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
G |
C |
9: 121,301,973 (GRCm39) |
V910L |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,324,131 (GRCm39) |
V326A |
probably benign |
Het |
| Tshr |
A |
G |
12: 91,472,057 (GRCm39) |
T136A |
probably damaging |
Het |
| Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
| Unc13a |
A |
C |
8: 72,087,302 (GRCm39) |
F1482V |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,025,777 (GRCm39) |
E388G |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,697,043 (GRCm39) |
D5167V |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,672 (GRCm39) |
H848L |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,884,708 (GRCm39) |
R65C |
probably null |
Het |
| Zcchc9 |
T |
C |
13: 91,945,368 (GRCm39) |
I72V |
probably benign |
Het |
| Zfc3h1 |
G |
T |
10: 115,259,379 (GRCm39) |
L1650F |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,134,040 (GRCm39) |
D366G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATTAATGCTGCTGCACTCAGAAC -3'
(R):5'- CGAAGTCATCTCAAGTCTCAGGCG -3'
Sequencing Primer
(F):5'- GCTGCTGCACTCAGAACATATC -3'
(R):5'- CGAGTCTCACCTGGATGTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation