Incidental Mutation 'IGL01329:D3Ertd751e'
| ID |
74416 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
D3Ertd751e
|
| Ensembl Gene |
ENSMUSG00000025766 |
| Gene Name |
DNA segment, Chr 3, ERATO Doi 751, expressed |
| Synonyms |
2810009O15Rik, 4930415G15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL01329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
41697046-41757755 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41703132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 69
(D69G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026867]
[ENSMUST00000026868]
[ENSMUST00000108065]
[ENSMUST00000119572]
[ENSMUST00000120167]
[ENSMUST00000143841]
[ENSMUST00000146165]
[ENSMUST00000194346]
[ENSMUST00000192193]
[ENSMUST00000195882]
[ENSMUST00000195030]
|
| AlphaFold |
Q8BGN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026867
AA Change: D69G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026868
AA Change: D69G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108065
AA Change: D69G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119572
AA Change: D69G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120167
AA Change: D69G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143841
AA Change: D69G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146165
AA Change: D69G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194346
AA Change: D69G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192193
AA Change: D69G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195882
AA Change: D69G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000193075
AA Change: D14G
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000193228
AA Change: D13G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195577
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192799
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195030
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,944,166 (GRCm39) |
|
probably null |
Het |
| Ankib1 |
A |
T |
5: 3,784,194 (GRCm39) |
|
probably benign |
Het |
| Birc2 |
T |
C |
9: 7,860,733 (GRCm39) |
Y195C |
probably damaging |
Het |
| Cand2 |
T |
C |
6: 115,759,755 (GRCm39) |
I142T |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,592,062 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
G |
A |
7: 17,479,534 (GRCm39) |
G217D |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,917,385 (GRCm39) |
H25L |
unknown |
Het |
| Cfap95 |
A |
G |
19: 23,630,100 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,778,889 (GRCm39) |
V266A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,622,164 (GRCm39) |
I1518V |
probably damaging |
Het |
| Entpd8 |
A |
G |
2: 24,974,358 (GRCm39) |
K381R |
probably benign |
Het |
| Fli1 |
T |
A |
9: 32,335,397 (GRCm39) |
K345I |
probably damaging |
Het |
| G6pd2 |
T |
C |
5: 61,967,281 (GRCm39) |
V352A |
probably damaging |
Het |
| Gbp11 |
C |
T |
5: 105,475,482 (GRCm39) |
|
probably null |
Het |
| Gm11992 |
A |
G |
11: 9,018,383 (GRCm39) |
*292W |
probably null |
Het |
| Ifnar2 |
T |
A |
16: 91,188,599 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,230,111 (GRCm39) |
K661R |
probably benign |
Het |
| Inf2 |
G |
T |
12: 112,578,290 (GRCm39) |
E651* |
probably null |
Het |
| Ints1 |
A |
G |
5: 139,753,258 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
T |
C |
9: 106,447,832 (GRCm39) |
K26E |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,951,613 (GRCm39) |
V289A |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,205,215 (GRCm39) |
K319R |
possibly damaging |
Het |
| Nubpl |
T |
C |
12: 52,352,638 (GRCm39) |
V291A |
probably damaging |
Het |
| Or4f56 |
A |
G |
2: 111,703,295 (GRCm39) |
F302L |
probably benign |
Het |
| Or4k15c |
C |
T |
14: 50,321,454 (GRCm39) |
R228H |
probably benign |
Het |
| Or8b57 |
A |
G |
9: 40,003,324 (GRCm39) |
S313P |
possibly damaging |
Het |
| Or8k38 |
T |
C |
2: 86,488,551 (GRCm39) |
N84D |
probably benign |
Het |
| Otof |
A |
G |
5: 30,598,723 (GRCm39) |
S29P |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,927,545 (GRCm39) |
D436G |
possibly damaging |
Het |
| Rasef |
T |
A |
4: 73,645,882 (GRCm39) |
T496S |
probably damaging |
Het |
| Saa2 |
A |
G |
7: 46,402,896 (GRCm39) |
D49G |
probably benign |
Het |
| Scart1 |
T |
A |
7: 139,804,552 (GRCm39) |
|
probably null |
Het |
| Scn2a |
A |
G |
2: 65,547,852 (GRCm39) |
I1015V |
probably benign |
Het |
| Sim2 |
T |
C |
16: 93,907,119 (GRCm39) |
Y154H |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,002,865 (GRCm39) |
H1863R |
probably benign |
Het |
| Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
| Svil |
A |
G |
18: 5,064,501 (GRCm39) |
E1111G |
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,322 (GRCm39) |
V112A |
probably damaging |
Het |
| Vmn1r205 |
T |
C |
13: 22,776,273 (GRCm39) |
I276M |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,882,776 (GRCm39) |
I939N |
possibly damaging |
Het |
| Zc3h11a |
T |
C |
1: 133,553,600 (GRCm39) |
M515V |
probably benign |
Het |
| Zfp457 |
T |
C |
13: 67,442,330 (GRCm39) |
T82A |
possibly damaging |
Het |
|
| Other mutations in D3Ertd751e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02484:D3Ertd751e
|
APN |
3 |
41,708,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02587:D3Ertd751e
|
APN |
3 |
41,708,287 (GRCm39) |
missense |
probably benign |
|
|
IGL03173:D3Ertd751e
|
APN |
3 |
41,710,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03304:D3Ertd751e
|
APN |
3 |
41,701,164 (GRCm39) |
critical splice donor site |
probably null |
|
|
Terre
|
UTSW |
3 |
41,712,844 (GRCm39) |
splice site |
probably null |
|
|
R0239:D3Ertd751e
|
UTSW |
3 |
41,708,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:D3Ertd751e
|
UTSW |
3 |
41,708,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4275:D3Ertd751e
|
UTSW |
3 |
41,710,589 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6350:D3Ertd751e
|
UTSW |
3 |
41,708,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:D3Ertd751e
|
UTSW |
3 |
41,712,844 (GRCm39) |
splice site |
probably null |
|
|
R7134:D3Ertd751e
|
UTSW |
3 |
41,708,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7179:D3Ertd751e
|
UTSW |
3 |
41,703,143 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7318:D3Ertd751e
|
UTSW |
3 |
41,756,986 (GRCm39) |
splice site |
probably null |
|
|
R7358:D3Ertd751e
|
UTSW |
3 |
41,701,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7632:D3Ertd751e
|
UTSW |
3 |
41,708,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7896:D3Ertd751e
|
UTSW |
3 |
41,710,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7952:D3Ertd751e
|
UTSW |
3 |
41,703,096 (GRCm39) |
splice site |
probably null |
|
|
R8714:D3Ertd751e
|
UTSW |
3 |
41,700,998 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation