Incidental Mutation 'IGL01433:D5Ertd579e'
| ID |
84237 |
| 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 # |
IGL01433
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36776098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 168
(D168E)
|
| 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: D168E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: D168E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
23 |
1303 |
N/A |
PFAM |
|
low complexity region
|
1365 |
1376 |
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: ENSMUST00000201187
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt3 |
C |
T |
3: 30,652,188 (GRCm39) |
G302D |
probably damaging |
Het |
| Adam19 |
T |
C |
11: 46,003,610 (GRCm39) |
L146P |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,609,263 (GRCm39) |
Y852F |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,657 (GRCm39) |
T1520A |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,706,590 (GRCm39) |
V199I |
probably benign |
Het |
| Avl9 |
A |
G |
6: 56,730,382 (GRCm39) |
D575G |
probably damaging |
Het |
| Bcam |
C |
A |
7: 19,494,107 (GRCm39) |
V395L |
possibly damaging |
Het |
| Bltp1 |
T |
G |
3: 36,941,919 (GRCm39) |
S241R |
probably damaging |
Het |
| Ccdc198 |
G |
T |
14: 49,473,341 (GRCm39) |
T128K |
probably benign |
Het |
| Cgn |
T |
A |
3: 94,686,769 (GRCm39) |
N178Y |
probably damaging |
Het |
| Dnah17 |
G |
T |
11: 117,940,760 (GRCm39) |
T3288K |
probably damaging |
Het |
| Ednrb |
A |
T |
14: 104,080,626 (GRCm39) |
I96N |
probably damaging |
Het |
| Gdpd3 |
A |
G |
7: 126,370,356 (GRCm39) |
I264V |
possibly damaging |
Het |
| Itih4 |
T |
C |
14: 30,617,405 (GRCm39) |
V575A |
probably benign |
Het |
| Jhy |
G |
A |
9: 40,828,512 (GRCm39) |
R465C |
possibly damaging |
Het |
| Kcna4 |
C |
T |
2: 107,127,078 (GRCm39) |
S604F |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,633,814 (GRCm39) |
V99A |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,392,888 (GRCm39) |
I489T |
possibly damaging |
Het |
| Kif13a |
A |
G |
13: 46,926,384 (GRCm39) |
S241P |
probably damaging |
Het |
| Lax1 |
T |
C |
1: 133,608,137 (GRCm39) |
I201M |
probably benign |
Het |
| Lzic |
T |
A |
4: 149,572,604 (GRCm39) |
S65T |
probably benign |
Het |
| Marchf9 |
T |
C |
10: 126,892,562 (GRCm39) |
T309A |
probably benign |
Het |
| Ndufc1 |
T |
C |
3: 51,314,797 (GRCm39) |
K70E |
possibly damaging |
Het |
| Optn |
T |
C |
2: 5,031,955 (GRCm39) |
K504R |
probably benign |
Het |
| Or51q1 |
A |
T |
7: 103,628,539 (GRCm39) |
I53F |
probably damaging |
Het |
| Pagr1a |
A |
G |
7: 126,614,647 (GRCm39) |
|
probably benign |
Het |
| Pold1 |
G |
A |
7: 44,192,656 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,412,741 (GRCm39) |
I1786T |
probably damaging |
Het |
| Rgs20 |
T |
C |
1: 5,140,300 (GRCm39) |
D34G |
possibly damaging |
Het |
| Rnps1 |
T |
C |
17: 24,643,519 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
T |
C |
14: 52,363,834 (GRCm39) |
V261A |
probably damaging |
Het |
| Sfxn1 |
A |
G |
13: 54,247,935 (GRCm39) |
N220S |
probably benign |
Het |
| Slc35f1 |
T |
A |
10: 52,949,542 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
T |
C |
10: 75,906,329 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,340,067 (GRCm39) |
I402V |
possibly damaging |
Het |
| Spaca6 |
T |
C |
17: 18,051,429 (GRCm39) |
V35A |
probably benign |
Het |
| Taar2 |
A |
G |
10: 23,816,657 (GRCm39) |
T66A |
probably benign |
Het |
| Tanc2 |
C |
T |
11: 105,701,348 (GRCm39) |
H288Y |
possibly damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,804,164 (GRCm39) |
Q393R |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,854,276 (GRCm39) |
Y133C |
probably damaging |
Het |
| Vmn2r105 |
T |
C |
17: 20,448,817 (GRCm39) |
D120G |
probably benign |
Het |
| Vmn2r56 |
C |
A |
7: 12,449,541 (GRCm39) |
M232I |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,373,274 (GRCm39) |
|
probably null |
Het |
| Zfp251 |
C |
T |
15: 76,738,755 (GRCm39) |
V113I |
probably benign |
Het |
|
| Other mutations in D5Ertd579e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation