Incidental Mutation 'R0830:D5Ertd579e'
ID |
77479 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D5Ertd579e
|
Ensembl Gene |
ENSMUSG00000029190 |
Gene Name |
DNA segment, Chr 5, ERATO Doi 579, expressed |
Synonyms |
9030221A05Rik, A930018H20Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.307)
|
Stock # |
R0830 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 36771101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1098
(T1098I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031091
AA Change: T1098I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031091 Gene: ENSMUSG00000029190 AA Change: T1098I
Domain | Start | End | E-Value | Type |
Pfam:DUF4603
|
23 |
1303 |
N/A |
PFAM |
low complexity region
|
1365 |
1376 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132383
|
SMART Domains |
Protein: ENSMUSP00000116548 Gene: ENSMUSG00000029190
Domain | Start | End | E-Value | Type |
Pfam:DUF4603
|
1 |
1181 |
N/A |
PFAM |
low complexity region
|
1243 |
1254 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140063
|
SMART Domains |
Protein: ENSMUSP00000118804 Gene: ENSMUSG00000029190
Domain | Start | End | E-Value | Type |
Pfam:DUF4603
|
23 |
77 |
1e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150088
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174019
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201187
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.0%
- 20x: 90.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700056E22Rik |
C |
T |
1: 183,765,624 (GRCm39) |
R145H |
probably damaging |
Het |
Adam26a |
C |
T |
8: 44,021,439 (GRCm39) |
V684I |
probably benign |
Het |
Alk |
T |
C |
17: 72,910,195 (GRCm39) |
I170M |
probably benign |
Het |
Apc2 |
T |
C |
10: 80,151,239 (GRCm39) |
Y2069H |
probably damaging |
Het |
Aspm |
A |
G |
1: 139,401,992 (GRCm39) |
T1219A |
probably damaging |
Het |
Bnip1 |
T |
C |
17: 27,008,679 (GRCm39) |
S94P |
probably benign |
Het |
Cftr |
A |
G |
6: 18,270,224 (GRCm39) |
I805V |
probably benign |
Het |
Col25a1 |
T |
A |
3: 130,378,375 (GRCm39) |
D609E |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,276,669 (GRCm39) |
V2771E |
unknown |
Het |
Cyp2g1 |
A |
G |
7: 26,514,216 (GRCm39) |
K274R |
probably benign |
Het |
Ddx39a |
T |
A |
8: 84,446,452 (GRCm39) |
C74S |
possibly damaging |
Het |
E2f3 |
C |
T |
13: 30,169,543 (GRCm39) |
A37T |
probably benign |
Het |
Emilin2 |
A |
G |
17: 71,580,815 (GRCm39) |
M637T |
probably benign |
Het |
Exosc7 |
T |
C |
9: 122,948,358 (GRCm39) |
L93P |
probably benign |
Het |
F2 |
T |
C |
2: 91,460,545 (GRCm39) |
E316G |
probably benign |
Het |
Fat4 |
A |
C |
3: 39,053,258 (GRCm39) |
Q4084P |
probably benign |
Het |
Flywch1 |
T |
C |
17: 23,981,344 (GRCm39) |
K160E |
probably benign |
Het |
Foxi2 |
A |
G |
7: 135,013,459 (GRCm39) |
T230A |
probably benign |
Het |
Fthl17a |
A |
G |
X: 84,313,679 (GRCm39) |
N154S |
possibly damaging |
Het |
Hykk |
G |
A |
9: 54,844,601 (GRCm39) |
R222Q |
probably damaging |
Het |
Il18rap |
T |
A |
1: 40,582,150 (GRCm39) |
V357E |
probably damaging |
Het |
Ing4 |
A |
G |
6: 125,020,923 (GRCm39) |
E15G |
probably damaging |
Het |
Irak1 |
T |
C |
X: 73,060,189 (GRCm39) |
D679G |
probably damaging |
Het |
Itga1 |
T |
C |
13: 115,143,568 (GRCm39) |
E321G |
probably benign |
Het |
Nudt1 |
T |
A |
5: 140,321,076 (GRCm39) |
|
probably null |
Het |
Nup58 |
A |
G |
14: 60,480,931 (GRCm39) |
F138S |
probably damaging |
Het |
Or10al6 |
A |
T |
17: 38,082,804 (GRCm39) |
M87L |
probably damaging |
Het |
Or2a5 |
G |
T |
6: 42,873,532 (GRCm39) |
W49L |
probably benign |
Het |
Pllp |
T |
C |
8: 95,406,103 (GRCm39) |
Y60C |
probably damaging |
Het |
Pnpla7 |
T |
C |
2: 24,887,267 (GRCm39) |
V37A |
probably damaging |
Het |
Poglut3 |
T |
G |
9: 53,302,011 (GRCm39) |
L32R |
probably damaging |
Het |
Psme4 |
A |
G |
11: 30,757,797 (GRCm39) |
H310R |
possibly damaging |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Sash1 |
C |
T |
10: 8,605,673 (GRCm39) |
V906M |
probably benign |
Het |
Scn1a |
A |
T |
2: 66,130,128 (GRCm39) |
I1212K |
probably damaging |
Het |
Stbd1 |
A |
T |
5: 92,752,989 (GRCm39) |
S160C |
probably benign |
Het |
Tex29 |
T |
C |
8: 11,904,157 (GRCm39) |
V99A |
probably benign |
Het |
Tg |
A |
T |
15: 66,596,993 (GRCm39) |
N79I |
probably damaging |
Het |
Tie1 |
T |
C |
4: 118,339,860 (GRCm39) |
D389G |
probably damaging |
Het |
Vmn1r178 |
A |
G |
7: 23,593,452 (GRCm39) |
T167A |
possibly damaging |
Het |
Xkr4 |
C |
T |
1: 3,740,968 (GRCm39) |
G202S |
possibly damaging |
Het |
|
Other mutations in D5Ertd579e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01433:D5Ertd579e
|
APN |
5 |
36,776,098 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01925:D5Ertd579e
|
APN |
5 |
36,771,628 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01933:D5Ertd579e
|
APN |
5 |
36,773,100 (GRCm39) |
missense |
probably benign |
|
IGL02164:D5Ertd579e
|
APN |
5 |
36,772,303 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02399:D5Ertd579e
|
APN |
5 |
36,773,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02896:D5Ertd579e
|
APN |
5 |
36,771,326 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL03141:D5Ertd579e
|
APN |
5 |
36,770,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03235:D5Ertd579e
|
APN |
5 |
36,776,172 (GRCm39) |
splice site |
probably benign |
|
R0201:D5Ertd579e
|
UTSW |
5 |
36,773,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R0377:D5Ertd579e
|
UTSW |
5 |
36,761,911 (GRCm39) |
missense |
probably benign |
0.12 |
R0926:D5Ertd579e
|
UTSW |
5 |
36,830,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R1350:D5Ertd579e
|
UTSW |
5 |
36,771,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R1448:D5Ertd579e
|
UTSW |
5 |
36,760,083 (GRCm39) |
missense |
probably benign |
|
R1672:D5Ertd579e
|
UTSW |
5 |
36,770,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1676:D5Ertd579e
|
UTSW |
5 |
36,773,453 (GRCm39) |
missense |
probably benign |
0.01 |
R1693:D5Ertd579e
|
UTSW |
5 |
36,771,441 (GRCm39) |
missense |
probably damaging |
0.98 |
R1698:D5Ertd579e
|
UTSW |
5 |
36,761,874 (GRCm39) |
missense |
probably benign |
|
R1868:D5Ertd579e
|
UTSW |
5 |
36,773,771 (GRCm39) |
missense |
probably damaging |
0.99 |
R1909:D5Ertd579e
|
UTSW |
5 |
36,771,402 (GRCm39) |
missense |
probably benign |
0.21 |
R2034:D5Ertd579e
|
UTSW |
5 |
36,770,882 (GRCm39) |
nonsense |
probably null |
|
R2080:D5Ertd579e
|
UTSW |
5 |
36,773,550 (GRCm39) |
missense |
probably benign |
0.01 |
R2105:D5Ertd579e
|
UTSW |
5 |
36,770,793 (GRCm39) |
missense |
probably benign |
0.12 |
R2197:D5Ertd579e
|
UTSW |
5 |
36,772,137 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4212:D5Ertd579e
|
UTSW |
5 |
36,771,823 (GRCm39) |
missense |
probably damaging |
0.99 |
R4452:D5Ertd579e
|
UTSW |
5 |
36,773,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R4626:D5Ertd579e
|
UTSW |
5 |
36,771,903 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4804:D5Ertd579e
|
UTSW |
5 |
36,786,996 (GRCm39) |
splice site |
probably null |
|
R4898:D5Ertd579e
|
UTSW |
5 |
36,772,285 (GRCm39) |
missense |
probably damaging |
0.99 |
R4917:D5Ertd579e
|
UTSW |
5 |
36,773,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R4960:D5Ertd579e
|
UTSW |
5 |
36,773,571 (GRCm39) |
nonsense |
probably null |
|
R4973:D5Ertd579e
|
UTSW |
5 |
36,830,249 (GRCm39) |
missense |
probably benign |
|
R5092:D5Ertd579e
|
UTSW |
5 |
36,760,047 (GRCm39) |
missense |
probably benign |
0.18 |
R5474:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R5475:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R5476:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R5477:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R5801:D5Ertd579e
|
UTSW |
5 |
36,761,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R6019:D5Ertd579e
|
UTSW |
5 |
36,787,036 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6184:D5Ertd579e
|
UTSW |
5 |
36,787,127 (GRCm39) |
missense |
probably damaging |
0.99 |
R6213:D5Ertd579e
|
UTSW |
5 |
36,759,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R6244:D5Ertd579e
|
UTSW |
5 |
36,772,620 (GRCm39) |
missense |
probably damaging |
0.98 |
R6276:D5Ertd579e
|
UTSW |
5 |
36,761,858 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6285:D5Ertd579e
|
UTSW |
5 |
36,772,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R6358:D5Ertd579e
|
UTSW |
5 |
36,773,580 (GRCm39) |
splice site |
probably null |
|
R6875:D5Ertd579e
|
UTSW |
5 |
36,762,001 (GRCm39) |
splice site |
probably null |
|
R6967:D5Ertd579e
|
UTSW |
5 |
36,773,100 (GRCm39) |
missense |
probably benign |
|
R7139:D5Ertd579e
|
UTSW |
5 |
36,771,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R7329:D5Ertd579e
|
UTSW |
5 |
36,773,739 (GRCm39) |
missense |
probably benign |
0.21 |
R7464:D5Ertd579e
|
UTSW |
5 |
36,771,129 (GRCm39) |
missense |
probably damaging |
0.99 |
R7664:D5Ertd579e
|
UTSW |
5 |
36,771,961 (GRCm39) |
missense |
probably benign |
0.00 |
R7762:D5Ertd579e
|
UTSW |
5 |
36,770,725 (GRCm39) |
missense |
|
|
R7951:D5Ertd579e
|
UTSW |
5 |
36,772,517 (GRCm39) |
missense |
probably benign |
|
R8175:D5Ertd579e
|
UTSW |
5 |
36,772,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R8217:D5Ertd579e
|
UTSW |
5 |
36,771,402 (GRCm39) |
missense |
probably benign |
0.00 |
R8233:D5Ertd579e
|
UTSW |
5 |
36,772,588 (GRCm39) |
missense |
probably damaging |
0.99 |
R8281:D5Ertd579e
|
UTSW |
5 |
36,770,664 (GRCm39) |
missense |
|
|
R8398:D5Ertd579e
|
UTSW |
5 |
36,771,621 (GRCm39) |
nonsense |
probably null |
|
R8673:D5Ertd579e
|
UTSW |
5 |
36,830,151 (GRCm39) |
missense |
probably benign |
0.03 |
R8771:D5Ertd579e
|
UTSW |
5 |
36,761,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R8853:D5Ertd579e
|
UTSW |
5 |
36,787,024 (GRCm39) |
missense |
probably damaging |
0.99 |
R9106:D5Ertd579e
|
UTSW |
5 |
36,773,682 (GRCm39) |
missense |
probably benign |
0.39 |
R9121:D5Ertd579e
|
UTSW |
5 |
36,772,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R9413:D5Ertd579e
|
UTSW |
5 |
36,772,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R9569:D5Ertd579e
|
UTSW |
5 |
36,759,979 (GRCm39) |
missense |
probably damaging |
0.97 |
R9715:D5Ertd579e
|
UTSW |
5 |
36,787,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9723:D5Ertd579e
|
UTSW |
5 |
36,772,284 (GRCm39) |
missense |
probably damaging |
0.99 |
RF022:D5Ertd579e
|
UTSW |
5 |
36,772,006 (GRCm39) |
missense |
probably damaging |
1.00 |
X0019:D5Ertd579e
|
UTSW |
5 |
36,771,302 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:D5Ertd579e
|
UTSW |
5 |
36,773,106 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:D5Ertd579e
|
UTSW |
5 |
36,772,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCGGCAGAATCCCAGTTGCCTC -3'
(R):5'- TGACCCCTGGAAACAGCTTTGCTC -3'
Sequencing Primer
(F):5'- ATCCAGTGATGTCTGAGCAC -3'
(R):5'- GAAGATCCTGGCCTTGAATACTC -3'
|
Posted On |
2013-10-16 |