Incidental Mutation 'IGL01925:D5Ertd579e'
ID |
180249 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.317)
|
Stock # |
IGL01925
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36771628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 922
(D922E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031091
AA Change: D922E
PolyPhen 2
Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000031091 Gene: ENSMUSG00000029190 AA Change: D922E
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aloxe3 |
A |
G |
11: 69,019,459 (GRCm39) |
D124G |
probably damaging |
Het |
Arap3 |
C |
T |
18: 38,117,299 (GRCm39) |
V926I |
probably benign |
Het |
Catspere2 |
T |
A |
1: 177,842,687 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
C |
T |
1: 90,729,958 (GRCm39) |
V1176M |
possibly damaging |
Het |
Dipk2a |
A |
C |
9: 94,402,509 (GRCm39) |
D384E |
probably damaging |
Het |
Epm2a |
T |
A |
10: 11,324,502 (GRCm39) |
I197N |
possibly damaging |
Het |
Faim |
T |
G |
9: 98,872,972 (GRCm39) |
|
probably benign |
Het |
Fkbp15 |
A |
G |
4: 62,241,450 (GRCm39) |
I565T |
probably damaging |
Het |
Fli1 |
G |
A |
9: 32,377,127 (GRCm39) |
P47L |
probably damaging |
Het |
Gli2 |
T |
C |
1: 118,781,106 (GRCm39) |
K187R |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Hspa5 |
G |
A |
2: 34,664,730 (GRCm39) |
V395I |
probably benign |
Het |
Ide |
T |
C |
19: 37,255,296 (GRCm39) |
T836A |
unknown |
Het |
Il9 |
T |
A |
13: 56,629,684 (GRCm39) |
|
probably benign |
Het |
Ints8 |
C |
T |
4: 11,235,617 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,389,245 (GRCm39) |
H2060L |
probably benign |
Het |
Mok |
T |
C |
12: 110,774,646 (GRCm39) |
N208S |
probably benign |
Het |
Morn3 |
T |
C |
5: 123,184,825 (GRCm39) |
K5R |
probably damaging |
Het |
Nalcn |
C |
T |
14: 123,529,260 (GRCm39) |
C1405Y |
possibly damaging |
Het |
Ndufv3 |
T |
C |
17: 31,746,460 (GRCm39) |
S117P |
possibly damaging |
Het |
Ninl |
A |
T |
2: 150,812,979 (GRCm39) |
C226S |
probably damaging |
Het |
Onecut2 |
T |
C |
18: 64,474,585 (GRCm39) |
W360R |
probably damaging |
Het |
Or10al4 |
A |
G |
17: 38,037,002 (GRCm39) |
E29G |
probably benign |
Het |
Or13f5 |
A |
G |
4: 52,825,910 (GRCm39) |
N171S |
probably benign |
Het |
Or1af1 |
A |
G |
2: 37,110,058 (GRCm39) |
T186A |
probably benign |
Het |
Or2d3b |
T |
A |
7: 106,514,235 (GRCm39) |
F277I |
probably damaging |
Het |
Or2w2 |
T |
C |
13: 21,758,341 (GRCm39) |
D95G |
possibly damaging |
Het |
Or51e1 |
T |
C |
7: 102,359,410 (GRCm39) |
S315P |
probably damaging |
Het |
Rai14 |
A |
G |
15: 10,595,948 (GRCm39) |
S118P |
possibly damaging |
Het |
Serpinb7 |
T |
C |
1: 107,379,399 (GRCm39) |
S269P |
probably benign |
Het |
Sesn3 |
C |
T |
9: 14,231,696 (GRCm39) |
T209I |
probably damaging |
Het |
Slit1 |
T |
A |
19: 41,596,817 (GRCm39) |
N1094I |
probably damaging |
Het |
Tep1 |
C |
T |
14: 51,061,955 (GRCm39) |
|
probably benign |
Het |
Top1mt |
A |
G |
15: 75,528,992 (GRCm39) |
F584S |
possibly damaging |
Het |
Trim44 |
A |
T |
2: 102,230,362 (GRCm39) |
L223Q |
probably benign |
Het |
Trim69 |
T |
A |
2: 121,998,397 (GRCm39) |
L123Q |
probably damaging |
Het |
Ubr2 |
A |
T |
17: 47,265,875 (GRCm39) |
L1153I |
possibly damaging |
Het |
Unc13a |
G |
A |
8: 72,087,187 (GRCm39) |
T1520I |
possibly damaging |
Het |
Vmn2r105 |
A |
C |
17: 20,428,973 (GRCm39) |
I701S |
possibly damaging |
Het |
Wrn |
T |
C |
8: 33,809,208 (GRCm39) |
T263A |
probably benign |
Het |
Yeats2 |
T |
G |
16: 19,998,430 (GRCm39) |
|
probably benign |
Het |
Ythdf2 |
T |
C |
4: 131,938,085 (GRCm39) |
Y37C |
probably damaging |
Het |
Zfp169 |
T |
C |
13: 48,644,239 (GRCm39) |
|
probably benign |
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 |
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 |
R0830:D5Ertd579e
|
UTSW |
5 |
36,771,101 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2014-05-07 |