Incidental Mutation 'IGL02399:D5Ertd579e'
ID |
291807 |
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: 0.307)
|
Stock # |
IGL02399
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36773529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 289
(S289P)
|
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: S289P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031091 Gene: ENSMUSG00000029190 AA Change: S289P
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
C |
T |
2: 150,700,413 (GRCm39) |
|
probably benign |
Het |
Adarb1 |
G |
A |
10: 77,131,588 (GRCm39) |
P624S |
probably benign |
Het |
Afg3l2 |
A |
T |
18: 67,562,110 (GRCm39) |
F322I |
possibly damaging |
Het |
Arhgap23 |
A |
G |
11: 97,381,831 (GRCm39) |
|
probably benign |
Het |
Atp13a1 |
A |
G |
8: 70,259,751 (GRCm39) |
N1114S |
probably damaging |
Het |
C3ar1 |
T |
C |
6: 122,826,838 (GRCm39) |
N460D |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,279,493 (GRCm39) |
Y1988H |
probably damaging |
Het |
Calr |
T |
C |
8: 85,569,415 (GRCm39) |
|
probably benign |
Het |
Erbb4 |
G |
A |
1: 68,081,596 (GRCm39) |
|
probably benign |
Het |
Fam98a |
A |
G |
17: 75,845,936 (GRCm39) |
|
probably benign |
Het |
Gm3739 |
A |
T |
14: 18,505,274 (GRCm39) |
D83E |
possibly damaging |
Het |
Gm5420 |
A |
T |
10: 21,567,071 (GRCm39) |
|
noncoding transcript |
Het |
Heatr5b |
A |
G |
17: 79,135,396 (GRCm39) |
V245A |
probably damaging |
Het |
Kptn |
C |
A |
7: 15,861,038 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
T |
C |
11: 115,735,661 (GRCm39) |
C86R |
probably damaging |
Het |
Lrr1 |
T |
A |
12: 69,215,665 (GRCm39) |
C12* |
probably null |
Het |
Mcf2 |
T |
C |
X: 59,180,812 (GRCm39) |
D255G |
probably damaging |
Het |
Med13 |
A |
T |
11: 86,174,771 (GRCm39) |
|
probably benign |
Het |
Mthfd1 |
C |
T |
12: 76,364,406 (GRCm39) |
T735M |
probably damaging |
Het |
Nlrp2 |
C |
T |
7: 5,331,809 (GRCm39) |
A196T |
probably damaging |
Het |
Nnmt |
T |
C |
9: 48,514,838 (GRCm39) |
I60V |
probably damaging |
Het |
Odad2 |
G |
T |
18: 7,285,719 (GRCm39) |
Q215K |
probably benign |
Het |
Or4c110 |
T |
A |
2: 88,832,507 (GRCm39) |
T42S |
probably benign |
Het |
Or6ae1 |
A |
T |
7: 139,742,513 (GRCm39) |
S117T |
probably benign |
Het |
P2rx3 |
T |
C |
2: 84,853,571 (GRCm39) |
I140V |
probably benign |
Het |
Patj |
A |
G |
4: 98,480,173 (GRCm39) |
N1293D |
probably damaging |
Het |
Pitpnm2 |
G |
A |
5: 124,278,821 (GRCm39) |
|
probably benign |
Het |
Ppp1r26 |
T |
G |
2: 28,343,292 (GRCm39) |
V974G |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,116,973 (GRCm39) |
L1376* |
probably null |
Het |
Rab33a |
T |
A |
X: 47,608,584 (GRCm39) |
I36N |
probably damaging |
Het |
Rab3gap1 |
A |
T |
1: 127,855,840 (GRCm39) |
N493I |
possibly damaging |
Het |
Scara3 |
C |
A |
14: 66,170,559 (GRCm39) |
G107* |
probably null |
Het |
Siglec1 |
T |
C |
2: 130,913,098 (GRCm39) |
E1606G |
probably benign |
Het |
Skint9 |
A |
T |
4: 112,246,447 (GRCm39) |
Y222N |
possibly damaging |
Het |
Slc47a1 |
A |
T |
11: 61,253,884 (GRCm39) |
I185N |
probably damaging |
Het |
Slc47a2 |
C |
A |
11: 61,193,020 (GRCm39) |
|
probably benign |
Het |
Slc4a2 |
A |
G |
5: 24,639,711 (GRCm39) |
I506V |
probably damaging |
Het |
Slc9a4 |
A |
C |
1: 40,639,942 (GRCm39) |
I245L |
probably benign |
Het |
Smarcb1 |
T |
C |
10: 75,733,328 (GRCm39) |
T357A |
probably damaging |
Het |
Spata31d1d |
A |
G |
13: 59,877,954 (GRCm39) |
|
probably benign |
Het |
Stox2 |
T |
A |
8: 47,639,573 (GRCm39) |
I874F |
probably damaging |
Het |
Taar7b |
A |
T |
10: 23,876,050 (GRCm39) |
I72F |
probably damaging |
Het |
Tacc2 |
G |
A |
7: 130,225,129 (GRCm39) |
V605I |
probably benign |
Het |
Tef |
T |
C |
15: 81,699,301 (GRCm39) |
L34P |
probably damaging |
Het |
Trak2 |
A |
G |
1: 58,949,204 (GRCm39) |
V532A |
probably benign |
Het |
Usp13 |
T |
A |
3: 32,973,209 (GRCm39) |
D795E |
probably damaging |
Het |
Vmn1r32 |
T |
A |
6: 66,529,913 (GRCm39) |
I288F |
probably benign |
Het |
Vmn1r75 |
T |
C |
7: 11,615,093 (GRCm39) |
I275T |
possibly damaging |
Het |
Zfp871 |
A |
T |
17: 32,993,329 (GRCm39) |
F615L |
probably benign |
Het |
Zfp941 |
G |
A |
7: 140,392,612 (GRCm39) |
T249M |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,917,137 (GRCm39) |
I370V |
probably 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 |
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 |
2015-04-16 |