Incidental Mutation 'R6764:Dner'
ID |
531800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dner
|
Ensembl Gene |
ENSMUSG00000036766 |
Gene Name |
delta/notch-like EGF repeat containing |
Synonyms |
BET, A930026D19Rik |
MMRRC Submission |
044880-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6764 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
84347560-84673942 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 84472502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 366
(D366A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049126]
|
AlphaFold |
Q8JZM4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049126
AA Change: D366A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042927 Gene: ENSMUSG00000036766 AA Change: D366A
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (39/39) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff4 |
G |
T |
11: 53,290,657 (GRCm39) |
R539L |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,389,441 (GRCm39) |
Y1147N |
probably damaging |
Het |
Arhgef25 |
A |
G |
10: 127,019,970 (GRCm39) |
F423L |
probably damaging |
Het |
Atp1a2 |
A |
T |
1: 172,112,181 (GRCm39) |
D571E |
probably benign |
Het |
Bank1 |
A |
G |
3: 135,948,701 (GRCm39) |
S159P |
probably damaging |
Het |
Bcan |
C |
A |
3: 87,895,685 (GRCm39) |
R817L |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,304,014 (GRCm39) |
S1990P |
possibly damaging |
Het |
Ccna1 |
G |
A |
3: 54,953,499 (GRCm39) |
T368M |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,038,056 (GRCm39) |
|
probably null |
Het |
Ctbp1 |
T |
C |
5: 33,416,589 (GRCm39) |
H136R |
possibly damaging |
Het |
Eif3d |
A |
T |
15: 77,845,886 (GRCm39) |
D378E |
probably damaging |
Het |
Evpl |
A |
G |
11: 116,113,770 (GRCm39) |
S1307P |
probably damaging |
Het |
Fgd5 |
T |
A |
6: 91,966,402 (GRCm39) |
N720K |
probably damaging |
Het |
Fmn1 |
A |
G |
2: 113,355,560 (GRCm39) |
E667G |
unknown |
Het |
Gm4846 |
A |
G |
1: 166,319,121 (GRCm39) |
C206R |
probably benign |
Het |
Grpel1 |
G |
A |
5: 36,622,569 (GRCm39) |
R11H |
probably benign |
Het |
Gsn |
A |
G |
2: 35,174,056 (GRCm39) |
Y55C |
probably damaging |
Het |
Hephl1 |
G |
A |
9: 15,000,217 (GRCm39) |
T345I |
possibly damaging |
Het |
Ints2 |
T |
A |
11: 86,103,605 (GRCm39) |
K1150N |
probably benign |
Het |
Itga4 |
C |
A |
2: 79,155,958 (GRCm39) |
H975N |
probably benign |
Het |
Musk |
T |
C |
4: 58,354,027 (GRCm39) |
V360A |
probably damaging |
Het |
Naalad2 |
A |
T |
9: 18,314,185 (GRCm39) |
|
probably benign |
Het |
Ninj2 |
G |
T |
6: 120,175,011 (GRCm39) |
A51S |
probably benign |
Het |
Nscme3l |
A |
G |
19: 5,552,900 (GRCm39) |
S294P |
probably damaging |
Het |
Pcdhac1 |
T |
C |
18: 37,223,732 (GRCm39) |
Y182H |
probably damaging |
Het |
Pitpnm3 |
A |
G |
11: 71,942,059 (GRCm39) |
F916S |
probably damaging |
Het |
Sfrp5 |
T |
A |
19: 42,188,238 (GRCm39) |
M194L |
probably benign |
Het |
Sigirr |
C |
T |
7: 140,673,155 (GRCm39) |
V99I |
probably benign |
Het |
Smco2 |
A |
G |
6: 146,772,827 (GRCm39) |
D343G |
probably damaging |
Het |
Snap91 |
A |
G |
9: 86,674,234 (GRCm39) |
I584T |
probably benign |
Het |
Syne1 |
G |
A |
10: 5,179,011 (GRCm39) |
Q4488* |
probably null |
Het |
Tbc1d24 |
A |
C |
17: 24,404,754 (GRCm39) |
F130C |
possibly damaging |
Het |
Trpm7 |
A |
G |
2: 126,686,340 (GRCm39) |
V296A |
possibly damaging |
Het |
Ttll11 |
T |
C |
2: 35,780,460 (GRCm39) |
|
probably null |
Het |
Vmn2r115 |
A |
G |
17: 23,565,046 (GRCm39) |
D311G |
probably damaging |
Het |
Vmn2r63 |
A |
G |
7: 42,552,695 (GRCm39) |
S854P |
probably damaging |
Het |
Zfp330 |
C |
T |
8: 83,493,934 (GRCm39) |
C109Y |
probably damaging |
Het |
Zfp534 |
C |
T |
4: 147,759,175 (GRCm39) |
G498D |
probably benign |
Het |
Zfp62 |
A |
G |
11: 49,105,996 (GRCm39) |
D29G |
probably damaging |
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 |
IGL02904:Dner
|
APN |
1 |
84,512,665 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGCCAGGAGGTATGACTG -3'
(R):5'- GCCCAAAGCACGTGTTTTAG -3'
Sequencing Primer
(F):5'- ATGACTGGATCATGTGCACTTC -3'
(R):5'- CCCAAAGCACGTGTTTTAGAGTATTG -3'
|
Posted On |
2018-08-29 |