Incidental Mutation 'IGL00672:E130308A19Rik'
| ID |
10428 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
E130308A19Rik
|
| Ensembl Gene |
ENSMUSG00000045071 |
| Gene Name |
RIKEN cDNA E130308A19 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
IGL00672
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
59626116-59757649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59719697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 410
(S410G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052420]
[ENSMUST00000070150]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052420
AA Change: S410G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000062493
Gene: ENSMUSG00000045071
AA Change: S410G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
387 |
N/A |
INTRINSIC |
|
Pfam:DUF3504
|
520 |
673 |
2.2e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070150
|
| SMART Domains |
Protein: ENSMUSP00000065702
Gene: ENSMUSG00000045071
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
387 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
507 |
N/A |
INTRINSIC |
|
Pfam:DUF3504
|
532 |
687 |
4.5e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152797
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
A |
G |
9: 50,657,736 (GRCm39) |
|
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,238,986 (GRCm39) |
I744T |
probably damaging |
Het |
| Akap11 |
G |
A |
14: 78,748,781 (GRCm39) |
A1202V |
probably damaging |
Het |
| C130032M10Rik |
A |
G |
9: 114,344,898 (GRCm39) |
V340A |
probably damaging |
Het |
| Csnk1g1 |
G |
T |
9: 65,915,028 (GRCm39) |
S229I |
probably damaging |
Het |
| Eif2s2 |
T |
A |
2: 154,729,629 (GRCm39) |
I98L |
probably benign |
Het |
| En1 |
T |
C |
1: 120,534,667 (GRCm39) |
F319L |
unknown |
Het |
| Fmnl3 |
A |
T |
15: 99,223,562 (GRCm39) |
Y345N |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,907,309 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
A |
G |
4: 96,637,419 (GRCm39) |
L366P |
probably damaging |
Het |
| Golga3 |
T |
C |
5: 110,360,110 (GRCm39) |
L1156S |
probably damaging |
Het |
| Gpcpd1 |
G |
T |
2: 132,372,468 (GRCm39) |
|
probably benign |
Het |
| Hvcn1 |
C |
A |
5: 122,376,534 (GRCm39) |
F155L |
probably benign |
Het |
| Jcad |
T |
C |
18: 4,674,835 (GRCm39) |
S866P |
possibly damaging |
Het |
| Kdm4c |
A |
G |
4: 74,261,751 (GRCm39) |
N642S |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,443 (GRCm39) |
I2V |
probably benign |
Het |
| Klri2 |
T |
A |
6: 129,710,034 (GRCm39) |
I189F |
probably damaging |
Het |
| Lair1 |
T |
A |
7: 4,031,730 (GRCm39) |
T126S |
probably benign |
Het |
| Lins1 |
A |
T |
7: 66,364,279 (GRCm39) |
K725* |
probably null |
Het |
| Lman2l |
T |
A |
1: 36,477,915 (GRCm39) |
|
probably null |
Het |
| Map3k10 |
T |
C |
7: 27,361,026 (GRCm39) |
K496E |
probably damaging |
Het |
| Nr2f2 |
A |
G |
7: 70,007,514 (GRCm39) |
S170P |
possibly damaging |
Het |
| Polr1b |
G |
A |
2: 128,967,392 (GRCm39) |
M928I |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,709,310 (GRCm39) |
P38S |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,559,434 (GRCm39) |
S802G |
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,619,026 (GRCm39) |
E518G |
probably benign |
Het |
| Smdt1 |
G |
A |
15: 82,230,384 (GRCm39) |
V34I |
possibly damaging |
Het |
| Ssr3 |
C |
A |
3: 65,298,831 (GRCm39) |
A59S |
probably benign |
Het |
| Stk4 |
A |
G |
2: 163,959,999 (GRCm39) |
K59E |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,110,958 (GRCm39) |
T1024M |
probably damaging |
Het |
| Taf5 |
A |
T |
19: 47,070,740 (GRCm39) |
D723V |
probably damaging |
Het |
| Tescl |
T |
C |
7: 24,033,035 (GRCm39) |
T97A |
probably benign |
Het |
| Thada |
A |
T |
17: 84,751,646 (GRCm39) |
S443R |
probably benign |
Het |
| Trp53bp2 |
A |
T |
1: 182,268,541 (GRCm39) |
H205L |
probably benign |
Het |
| Ube4b |
A |
G |
4: 149,465,823 (GRCm39) |
V209A |
probably benign |
Het |
| Zfp957 |
G |
T |
14: 79,450,838 (GRCm39) |
D320E |
unknown |
Het |
| Zfr2 |
T |
C |
10: 81,077,919 (GRCm39) |
S249P |
probably damaging |
Het |
| Zmpste24 |
A |
G |
4: 120,923,057 (GRCm39) |
I386T |
probably damaging |
Het |
|
| Other mutations in E130308A19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00660:E130308A19Rik
|
APN |
4 |
59,737,743 (GRCm39) |
splice site |
probably benign |
|
|
IGL00937:E130308A19Rik
|
APN |
4 |
59,690,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01885:E130308A19Rik
|
APN |
4 |
59,720,004 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02638:E130308A19Rik
|
APN |
4 |
59,719,676 (GRCm39) |
nonsense |
probably null |
|
|
H8562:E130308A19Rik
|
UTSW |
4 |
59,691,033 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0044:E130308A19Rik
|
UTSW |
4 |
59,690,290 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0523:E130308A19Rik
|
UTSW |
4 |
59,719,716 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0788:E130308A19Rik
|
UTSW |
4 |
59,719,847 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1215:E130308A19Rik
|
UTSW |
4 |
59,690,743 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1490:E130308A19Rik
|
UTSW |
4 |
59,719,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2292:E130308A19Rik
|
UTSW |
4 |
59,690,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3907:E130308A19Rik
|
UTSW |
4 |
59,752,393 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4288:E130308A19Rik
|
UTSW |
4 |
59,690,308 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4780:E130308A19Rik
|
UTSW |
4 |
59,691,057 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4781:E130308A19Rik
|
UTSW |
4 |
59,691,057 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4834:E130308A19Rik
|
UTSW |
4 |
59,690,317 (GRCm39) |
nonsense |
probably null |
|
|
R4985:E130308A19Rik
|
UTSW |
4 |
59,691,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6123:E130308A19Rik
|
UTSW |
4 |
59,737,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6290:E130308A19Rik
|
UTSW |
4 |
59,691,332 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6315:E130308A19Rik
|
UTSW |
4 |
59,691,132 (GRCm39) |
missense |
probably benign |
|
|
R6643:E130308A19Rik
|
UTSW |
4 |
59,720,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6763:E130308A19Rik
|
UTSW |
4 |
59,752,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6980:E130308A19Rik
|
UTSW |
4 |
59,719,991 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7036:E130308A19Rik
|
UTSW |
4 |
59,719,991 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7078:E130308A19Rik
|
UTSW |
4 |
59,737,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:E130308A19Rik
|
UTSW |
4 |
59,753,004 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7171:E130308A19Rik
|
UTSW |
4 |
59,690,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7247:E130308A19Rik
|
UTSW |
4 |
59,690,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:E130308A19Rik
|
UTSW |
4 |
59,752,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7916:E130308A19Rik
|
UTSW |
4 |
59,719,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:E130308A19Rik
|
UTSW |
4 |
59,719,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8445:E130308A19Rik
|
UTSW |
4 |
59,720,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8795:E130308A19Rik
|
UTSW |
4 |
59,737,676 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9088:E130308A19Rik
|
UTSW |
4 |
59,737,594 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9663:E130308A19Rik
|
UTSW |
4 |
59,719,764 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1176:E130308A19Rik
|
UTSW |
4 |
59,720,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:E130308A19Rik
|
UTSW |
4 |
59,720,223 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation