Incidental Mutation 'R5102:Dner'
| ID |
392393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dner
|
| Ensembl Gene |
ENSMUSG00000036766 |
| Gene Name |
delta/notch-like EGF repeat containing |
| Synonyms |
BET, A930026D19Rik |
| MMRRC Submission |
042690-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5102 (G1)
|
| Quality Score |
219 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
84347560-84673942 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84383691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 564
(N564K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049126]
|
| AlphaFold |
Q8JZM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049126
AA Change: N564K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042927
Gene: ENSMUSG00000036766
AA Change: N564K
| 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: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
C |
T |
1: 58,279,937 (GRCm39) |
R518C |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,469,592 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
C |
T |
10: 79,857,262 (GRCm39) |
P254S |
probably benign |
Het |
| Arl4c |
T |
C |
1: 88,629,322 (GRCm39) |
D22G |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,242,875 (GRCm39) |
T1142A |
probably benign |
Het |
| BC035044 |
T |
C |
6: 128,861,949 (GRCm39) |
|
probably benign |
Het |
| Bmp4 |
T |
C |
14: 46,621,458 (GRCm39) |
N362S |
probably damaging |
Het |
| Cbll1 |
G |
T |
12: 31,537,912 (GRCm39) |
T280N |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,986,971 (GRCm39) |
T401S |
probably benign |
Het |
| Cmklr2 |
A |
G |
1: 63,222,326 (GRCm39) |
V303A |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,245,952 (GRCm39) |
M1148L |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,873,832 (GRCm39) |
D1092G |
probably damaging |
Het |
| Cyth2 |
A |
G |
7: 45,460,126 (GRCm39) |
S173P |
probably damaging |
Het |
| D6Ertd527e |
A |
T |
6: 87,088,793 (GRCm39) |
I319F |
unknown |
Het |
| Dchs1 |
A |
T |
7: 105,421,384 (GRCm39) |
H345Q |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,476,640 (GRCm39) |
V211E |
probably damaging |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Dnajb5 |
G |
A |
4: 42,956,639 (GRCm39) |
D109N |
possibly damaging |
Het |
| Fam234b |
T |
C |
6: 135,186,282 (GRCm39) |
S97P |
probably benign |
Het |
| Fam53b |
G |
A |
7: 132,317,684 (GRCm39) |
R60* |
probably null |
Het |
| Fmo3 |
T |
G |
1: 162,791,546 (GRCm39) |
K244Q |
probably benign |
Het |
| Golim4 |
A |
G |
3: 75,810,579 (GRCm39) |
I192T |
possibly damaging |
Het |
| Gprin1 |
T |
C |
13: 54,887,576 (GRCm39) |
M233V |
probably benign |
Het |
| Gtf2f1 |
A |
T |
17: 57,310,626 (GRCm39) |
V443D |
probably damaging |
Het |
| Hmgcs2 |
T |
C |
3: 98,187,786 (GRCm39) |
|
probably benign |
Het |
| Ide |
T |
A |
19: 37,292,383 (GRCm39) |
I271L |
unknown |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,444,141 (GRCm39) |
I1378V |
probably benign |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,091,435 (GRCm39) |
|
probably null |
Het |
| Lhx6 |
T |
C |
2: 35,984,222 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,319,502 (GRCm39) |
G2007D |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,709,304 (GRCm39) |
K142R |
probably damaging |
Het |
| Macroh2a1 |
C |
G |
13: 56,243,936 (GRCm39) |
|
probably null |
Het |
| Mrpl2 |
G |
A |
17: 46,960,964 (GRCm39) |
R286Q |
probably benign |
Het |
| Mtrfr |
A |
G |
5: 124,476,954 (GRCm39) |
N83D |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,548,528 (GRCm39) |
D1402V |
probably damaging |
Het |
| Ndfip2 |
T |
C |
14: 105,535,539 (GRCm39) |
I275T |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,116,582 (GRCm39) |
V4131G |
possibly damaging |
Het |
| Nfe2l1 |
G |
A |
11: 96,712,934 (GRCm39) |
A83V |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,576,625 (GRCm39) |
D418G |
probably damaging |
Het |
| Or12e7 |
A |
T |
2: 87,288,138 (GRCm39) |
M210L |
probably benign |
Het |
| Or1n1b |
T |
A |
2: 36,780,056 (GRCm39) |
K268M |
possibly damaging |
Het |
| Plcd4 |
A |
G |
1: 74,604,313 (GRCm39) |
T764A |
probably damaging |
Het |
| Plppr3 |
G |
T |
10: 79,701,220 (GRCm39) |
P541T |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,637,771 (GRCm39) |
I191T |
possibly damaging |
Het |
| Pramel18 |
T |
C |
4: 101,766,436 (GRCm39) |
F40S |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,646,402 (GRCm39) |
K225E |
probably damaging |
Het |
| Rara |
A |
T |
11: 98,857,185 (GRCm39) |
Q64L |
possibly damaging |
Het |
| Rtkn |
G |
A |
6: 83,126,754 (GRCm39) |
V305M |
probably damaging |
Het |
| Sh2b1 |
A |
C |
7: 126,070,408 (GRCm39) |
F399V |
probably benign |
Het |
| Slc7a4 |
T |
C |
16: 17,393,482 (GRCm39) |
T106A |
probably damaging |
Het |
| Srcap |
G |
A |
7: 127,129,795 (GRCm39) |
G539D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,869,974 (GRCm39) |
|
probably null |
Het |
| Zfp267 |
G |
A |
3: 36,216,814 (GRCm39) |
C55Y |
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 |
|
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 |
|
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'- TGGCAGTTGCAGCAAATCTAAATG -3'
(R):5'- ATGCTAGTGAAACACCTCCC -3'
Sequencing Primer
(F):5'- GAAGAGACTTTAATGACAACACAGTC -3'
(R):5'- CTAGTGAAACACCTCCCTTTTGAAGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation