Incidental Mutation 'R0942:Dner'
ID |
82736 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dner
|
Ensembl Gene |
ENSMUSG00000036766 |
Gene Name |
delta/notch-like EGF repeat containing |
Synonyms |
BET, A930026D19Rik |
MMRRC Submission |
039081-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0942 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
84347560-84673942 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 84563030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049126]
[ENSMUST00000185606]
[ENSMUST00000191546]
|
AlphaFold |
Q8JZM4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049126
|
SMART Domains |
Protein: ENSMUSP00000042927 Gene: ENSMUSG00000036766
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 |
probably benign
Transcript: ENSMUST00000185606
|
SMART Domains |
Protein: ENSMUSP00000140986 Gene: ENSMUSG00000036766
Domain | Start | End | E-Value | Type |
EGF
|
10 |
46 |
1.1e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191306
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191546
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
95% (40/42) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810064F22Rik |
C |
T |
9: 22,119,367 (GRCm39) |
|
noncoding transcript |
Het |
Aass |
C |
T |
6: 23,075,151 (GRCm39) |
|
probably benign |
Het |
Abcb5 |
C |
A |
12: 118,869,933 (GRCm39) |
V742F |
possibly damaging |
Het |
Abcd4 |
A |
G |
12: 84,659,602 (GRCm39) |
I165T |
probably damaging |
Het |
Acer3 |
T |
C |
7: 97,906,949 (GRCm39) |
Y119C |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,568,789 (GRCm39) |
|
probably benign |
Het |
Ascc2 |
T |
A |
11: 4,618,380 (GRCm39) |
I325N |
probably benign |
Het |
Atad2b |
T |
A |
12: 5,074,591 (GRCm39) |
I1050N |
probably damaging |
Het |
Brms1l |
T |
C |
12: 55,912,742 (GRCm39) |
V245A |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,263,561 (GRCm39) |
D1270V |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,246,639 (GRCm39) |
M936K |
possibly damaging |
Het |
Cenpj |
A |
G |
14: 56,792,666 (GRCm39) |
|
probably benign |
Het |
Dzip1 |
T |
A |
14: 119,124,609 (GRCm39) |
R555* |
probably null |
Het |
Enpp4 |
A |
T |
17: 44,412,772 (GRCm39) |
L254* |
probably null |
Het |
Erich3 |
T |
A |
3: 154,444,788 (GRCm39) |
D518E |
probably benign |
Het |
Gli2 |
G |
A |
1: 118,765,236 (GRCm39) |
R972C |
probably damaging |
Het |
Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
Grb7 |
T |
C |
11: 98,344,634 (GRCm39) |
Y346H |
probably damaging |
Het |
Heg1 |
T |
C |
16: 33,581,173 (GRCm39) |
L1192P |
probably damaging |
Het |
Il16 |
T |
A |
7: 83,312,349 (GRCm39) |
Q445L |
probably benign |
Het |
Il17d |
C |
T |
14: 57,779,777 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,520,301 (GRCm39) |
N1936K |
probably benign |
Het |
Lrrc45 |
T |
C |
11: 120,609,064 (GRCm39) |
|
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Mphosph9 |
T |
A |
5: 124,400,100 (GRCm39) |
R934* |
probably null |
Het |
Nek11 |
T |
A |
9: 105,172,570 (GRCm39) |
|
probably null |
Het |
Nf1 |
T |
C |
11: 79,329,537 (GRCm39) |
S634P |
probably benign |
Het |
Or14c40 |
T |
A |
7: 86,313,314 (GRCm39) |
M148K |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,396,355 (GRCm39) |
V1959A |
probably benign |
Het |
Pkp2 |
G |
T |
16: 16,043,894 (GRCm39) |
G216V |
probably benign |
Het |
Ppp1r16a |
T |
C |
15: 76,578,211 (GRCm39) |
L394P |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,996,139 (GRCm39) |
Q1070* |
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rprd2 |
A |
T |
3: 95,672,730 (GRCm39) |
I891N |
probably damaging |
Het |
Speer1e |
A |
T |
5: 11,236,488 (GRCm39) |
T174S |
probably benign |
Het |
Taf15 |
T |
C |
11: 83,389,932 (GRCm39) |
I40T |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,031,178 (GRCm39) |
Y1077H |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,693,833 (GRCm39) |
E223G |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGCCTGAGCAACCTAGACCTTG -3'
(R):5'- GCATTTGCAACGACGGCTATGAAG -3'
Sequencing Primer
(F):5'- gcctggcatctgtaaagttc -3'
(R):5'- GGTCTTAACTGTGAACAACCACTTC -3'
|
Posted On |
2013-11-08 |