Incidental Mutation 'IGL02904:Dner'
| ID |
363746 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dner
|
| Ensembl Gene |
ENSMUSG00000036766 |
| Gene Name |
delta/notch-like EGF repeat containing |
| Synonyms |
BET, A930026D19Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02904
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
84347560-84673942 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84512665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 301
(V301M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049126]
|
| AlphaFold |
Q8JZM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049126
AA Change: V301M
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042927
Gene: ENSMUSG00000036766
AA Change: V301M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
EGF
|
47 |
92 |
9.85e-5 |
SMART |
|
EGF
|
97 |
133 |
2.33e-6 |
SMART |
|
EGF
|
306 |
348 |
1.8e1 |
SMART |
|
EGF
|
352 |
390 |
5e-6 |
SMART |
|
EGF_CA
|
392 |
428 |
8.97e-8 |
SMART |
|
EGF
|
433 |
466 |
3.54e-6 |
SMART |
|
EGF
|
471 |
503 |
4.66e-6 |
SMART |
|
EGF_CA
|
505 |
541 |
1.61e-9 |
SMART |
|
EGF
|
546 |
579 |
9.7e-4 |
SMART |
|
EGF_CA
|
581 |
617 |
4.52e-13 |
SMART |
|
transmembrane domain
|
639 |
661 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191306
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display delayed cerebellar development, abnormal Bergmann glial cells, abnormal Purkinje cell innervation, and impaired coordination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,620,990 (GRCm39) |
S564P |
probably damaging |
Het |
| A1cf |
A |
C |
19: 31,912,206 (GRCm39) |
K432N |
probably damaging |
Het |
| Acp7 |
A |
T |
7: 28,307,428 (GRCm39) |
D476E |
probably benign |
Het |
| Aqp9 |
T |
A |
9: 71,045,430 (GRCm39) |
I60F |
probably damaging |
Het |
| B2m |
A |
C |
2: 121,981,642 (GRCm39) |
|
probably benign |
Het |
| B3galt1 |
T |
A |
2: 67,949,089 (GRCm39) |
V268E |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,306,149 (GRCm39) |
L1299P |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Ces2e |
C |
T |
8: 105,657,970 (GRCm39) |
P356L |
probably benign |
Het |
| Crmp1 |
A |
T |
5: 37,446,262 (GRCm39) |
K639N |
possibly damaging |
Het |
| Ddx17 |
G |
A |
15: 79,414,638 (GRCm39) |
R510* |
probably null |
Het |
| Efr3b |
T |
G |
12: 4,034,583 (GRCm39) |
I196L |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,493,719 (GRCm39) |
V3955A |
probably damaging |
Het |
| Gid4 |
T |
C |
11: 60,308,561 (GRCm39) |
I27T |
probably benign |
Het |
| Glis3 |
A |
G |
19: 28,335,352 (GRCm39) |
F571L |
possibly damaging |
Het |
| Gm4950 |
T |
C |
18: 51,998,803 (GRCm39) |
I51V |
probably benign |
Het |
| Gm5592 |
T |
C |
7: 40,937,810 (GRCm39) |
L364P |
probably damaging |
Het |
| Gucy2d |
G |
A |
7: 98,111,396 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
A |
G |
4: 129,544,480 (GRCm39) |
I411T |
probably benign |
Het |
| Lcn11 |
A |
G |
2: 25,669,278 (GRCm39) |
D145G |
probably null |
Het |
| Lrrc37 |
A |
C |
11: 103,507,187 (GRCm39) |
|
probably benign |
Het |
| Med12 |
A |
G |
X: 100,337,784 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,536,851 (GRCm39) |
K42E |
possibly damaging |
Het |
| Mtor |
A |
G |
4: 148,576,069 (GRCm39) |
|
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,171,765 (GRCm39) |
D55G |
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,804,632 (GRCm39) |
C445* |
probably null |
Het |
| Naca |
C |
T |
10: 127,879,159 (GRCm39) |
|
probably benign |
Het |
| Nlgn2 |
T |
C |
11: 69,716,666 (GRCm39) |
Y625C |
possibly damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,074,715 (GRCm39) |
C827S |
probably damaging |
Het |
| Nudt12 |
T |
A |
17: 59,317,347 (GRCm39) |
N100I |
probably benign |
Het |
| Or2t43 |
T |
A |
11: 58,457,623 (GRCm39) |
T183S |
possibly damaging |
Het |
| Or5g9 |
T |
C |
2: 85,552,099 (GRCm39) |
S117P |
probably damaging |
Het |
| Or7d10 |
A |
T |
9: 19,832,393 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,729 (GRCm39) |
L31Q |
probably null |
Het |
| Picalm |
G |
A |
7: 89,825,619 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,818,450 (GRCm39) |
|
probably benign |
Het |
| Scube3 |
T |
C |
17: 28,386,574 (GRCm39) |
V831A |
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 12,991,321 (GRCm39) |
I456T |
probably damaging |
Het |
| Snx3 |
A |
G |
10: 42,410,690 (GRCm39) |
H110R |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,679,432 (GRCm39) |
D635G |
probably damaging |
Het |
| St3gal5 |
A |
T |
6: 72,124,108 (GRCm39) |
I212L |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,099,845 (GRCm39) |
Y192* |
probably null |
Het |
| Tmtc1 |
A |
G |
6: 148,150,980 (GRCm39) |
|
probably benign |
Het |
| Trappc14 |
C |
T |
5: 138,258,864 (GRCm39) |
V232I |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,853,097 (GRCm39) |
E499D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,562,375 (GRCm39) |
N28823K |
probably damaging |
Het |
| Unc13c |
C |
A |
9: 73,388,349 (GRCm39) |
G2146* |
probably null |
Het |
| Ush2a |
G |
T |
1: 188,638,703 (GRCm39) |
V4038L |
probably benign |
Het |
| Zc3h7a |
T |
G |
16: 10,968,530 (GRCm39) |
D483A |
probably damaging |
Het |
| Zfyve19 |
T |
C |
2: 119,040,953 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dner |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01434:Dner
|
APN |
1 |
84,361,731 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02251:Dner
|
APN |
1 |
84,361,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03063:Dner
|
APN |
1 |
84,563,059 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0013:Dner
|
UTSW |
1 |
84,472,614 (GRCm39) |
splice site |
probably benign |
|
|
R0112:Dner
|
UTSW |
1 |
84,560,774 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0196:Dner
|
UTSW |
1 |
84,348,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0282:Dner
|
UTSW |
1 |
84,423,101 (GRCm39) |
splice site |
probably benign |
|
|
R0282:Dner
|
UTSW |
1 |
84,383,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0942:Dner
|
UTSW |
1 |
84,563,030 (GRCm39) |
splice site |
probably benign |
|
|
R1143:Dner
|
UTSW |
1 |
84,423,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1483:Dner
|
UTSW |
1 |
84,563,270 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1585:Dner
|
UTSW |
1 |
84,563,177 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1636:Dner
|
UTSW |
1 |
84,563,051 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1739:Dner
|
UTSW |
1 |
84,348,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1756:Dner
|
UTSW |
1 |
84,423,311 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1960:Dner
|
UTSW |
1 |
84,423,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2061:Dner
|
UTSW |
1 |
84,383,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2157:Dner
|
UTSW |
1 |
84,361,659 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2265:Dner
|
UTSW |
1 |
84,563,270 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R2382:Dner
|
UTSW |
1 |
84,348,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Dner
|
UTSW |
1 |
84,560,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3053:Dner
|
UTSW |
1 |
84,361,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3917:Dner
|
UTSW |
1 |
84,563,270 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4530:Dner
|
UTSW |
1 |
84,560,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4552:Dner
|
UTSW |
1 |
84,361,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Dner
|
UTSW |
1 |
84,361,537 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4593:Dner
|
UTSW |
1 |
84,673,449 (GRCm39) |
start codon destroyed |
probably null |
|
|
R4711:Dner
|
UTSW |
1 |
84,361,618 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5102:Dner
|
UTSW |
1 |
84,383,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Dner
|
UTSW |
1 |
84,558,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5370:Dner
|
UTSW |
1 |
84,563,270 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6000:Dner
|
UTSW |
1 |
84,361,650 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6644:Dner
|
UTSW |
1 |
84,373,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Dner
|
UTSW |
1 |
84,472,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6948:Dner
|
UTSW |
1 |
84,383,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6991:Dner
|
UTSW |
1 |
84,454,123 (GRCm39) |
nonsense |
probably null |
|
|
R7056:Dner
|
UTSW |
1 |
84,558,457 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7410:Dner
|
UTSW |
1 |
84,563,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Dner
|
UTSW |
1 |
84,563,270 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R7869:Dner
|
UTSW |
1 |
84,361,602 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7938:Dner
|
UTSW |
1 |
84,673,218 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8253:Dner
|
UTSW |
1 |
84,512,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Dner
|
UTSW |
1 |
84,673,226 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9170:Dner
|
UTSW |
1 |
84,512,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9254:Dner
|
UTSW |
1 |
84,673,193 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9763:Dner
|
UTSW |
1 |
84,361,656 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Z1176:Dner
|
UTSW |
1 |
84,361,701 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1177:Dner
|
UTSW |
1 |
84,423,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Dner
|
UTSW |
1 |
84,423,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dner
|
UTSW |
1 |
84,383,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation