Incidental Mutation 'R4722:Dpy19l4'
ID |
401901 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpy19l4
|
Ensembl Gene |
ENSMUSG00000045205 |
Gene Name |
dpy-19 like 4 |
Synonyms |
Narg3, LOC381510 |
MMRRC Submission |
041987-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R4722 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
11261315-11322137 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11290521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 290
(V290A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081954
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084892]
[ENSMUST00000128024]
[ENSMUST00000139385]
[ENSMUST00000142005]
|
AlphaFold |
A2AJQ3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084892
AA Change: V290A
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000081954 Gene: ENSMUSG00000045205 AA Change: V290A
Domain | Start | End | E-Value | Type |
Pfam:Dpy19
|
59 |
714 |
3e-213 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128024
|
SMART Domains |
Protein: ENSMUSP00000122823 Gene: ENSMUSG00000045205
Domain | Start | End | E-Value | Type |
Pfam:Dpy19
|
58 |
293 |
1e-89 |
PFAM |
Pfam:Dpy19
|
291 |
524 |
4.8e-51 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139385
AA Change: V104A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000115537 Gene: ENSMUSG00000045205 AA Change: V104A
Domain | Start | End | E-Value | Type |
Pfam:Dpy19
|
1 |
258 |
3.2e-71 |
PFAM |
Pfam:Dpy19
|
254 |
488 |
7e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142005
|
SMART Domains |
Protein: ENSMUSP00000119923 Gene: ENSMUSG00000045205
Domain | Start | End | E-Value | Type |
Pfam:Dpy19
|
58 |
253 |
6.9e-77 |
PFAM |
|
Meta Mutation Damage Score |
0.3487 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700097O09Rik |
G |
T |
12: 55,107,922 (GRCm39) |
D92E |
probably benign |
Het |
Abca17 |
A |
G |
17: 24,484,403 (GRCm39) |
F1620L |
probably damaging |
Het |
Abcf1 |
T |
C |
17: 36,268,933 (GRCm39) |
|
probably benign |
Het |
Adtrp |
T |
C |
13: 41,920,823 (GRCm39) |
H248R |
probably benign |
Het |
Aldh1b1 |
T |
G |
4: 45,803,472 (GRCm39) |
F337V |
probably damaging |
Het |
Amz2 |
C |
T |
11: 109,325,457 (GRCm39) |
L272F |
probably damaging |
Het |
Asic2 |
A |
T |
11: 81,859,009 (GRCm39) |
M1K |
probably null |
Het |
Avpr1a |
T |
A |
10: 122,284,906 (GRCm39) |
V66E |
possibly damaging |
Het |
AW554918 |
C |
A |
18: 25,307,772 (GRCm39) |
Y28* |
probably null |
Het |
Cdc25b |
C |
T |
2: 131,035,271 (GRCm39) |
P343L |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,822,445 (GRCm39) |
I846K |
probably damaging |
Het |
Dnajc13 |
A |
T |
9: 104,091,017 (GRCm39) |
M688K |
probably benign |
Het |
Dock2 |
T |
A |
11: 34,586,298 (GRCm39) |
I505F |
probably damaging |
Het |
Dtl |
G |
T |
1: 191,288,953 (GRCm39) |
Q254K |
possibly damaging |
Het |
Enpp2 |
T |
G |
15: 54,750,985 (GRCm39) |
K265T |
probably damaging |
Het |
Epm2aip1 |
TGTCGCCG |
TG |
9: 111,101,152 (GRCm39) |
|
probably benign |
Het |
Fam133b |
T |
A |
5: 3,593,949 (GRCm39) |
|
probably null |
Het |
Fuom |
A |
G |
7: 139,679,480 (GRCm39) |
|
probably benign |
Het |
Fut9 |
T |
C |
4: 25,799,734 (GRCm39) |
|
probably benign |
Het |
Gas8 |
T |
A |
8: 124,252,374 (GRCm39) |
I171N |
possibly damaging |
Het |
Gipc3 |
T |
G |
10: 81,177,129 (GRCm39) |
D147A |
probably benign |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm5591 |
T |
C |
7: 38,218,572 (GRCm39) |
K767R |
probably damaging |
Het |
Kctd8 |
G |
A |
5: 69,498,544 (GRCm39) |
P34L |
possibly damaging |
Het |
Kmt2b |
G |
A |
7: 30,282,627 (GRCm39) |
R403C |
probably damaging |
Het |
Krt84 |
A |
T |
15: 101,436,846 (GRCm39) |
I396N |
probably damaging |
Het |
Lrrk2 |
C |
A |
15: 91,573,104 (GRCm39) |
F217L |
probably damaging |
Het |
Med27 |
T |
A |
2: 29,414,447 (GRCm39) |
D290E |
probably damaging |
Het |
Mical3 |
T |
C |
6: 121,015,486 (GRCm39) |
Q184R |
probably benign |
Het |
Mlxip |
A |
T |
5: 123,585,265 (GRCm39) |
K591M |
probably benign |
Het |
Mutyh |
T |
A |
4: 116,674,069 (GRCm39) |
L233H |
probably damaging |
Het |
Naip6 |
G |
T |
13: 100,443,580 (GRCm39) |
H253N |
possibly damaging |
Het |
Nynrin |
A |
G |
14: 56,091,852 (GRCm39) |
E56G |
probably damaging |
Het |
Oip5 |
C |
T |
2: 119,443,492 (GRCm39) |
|
probably null |
Het |
Or10a4 |
T |
A |
7: 106,696,777 (GRCm39) |
I35N |
possibly damaging |
Het |
Or10ak12 |
T |
C |
4: 118,666,146 (GRCm39) |
N305S |
probably damaging |
Het |
Or4c104 |
T |
G |
2: 88,586,356 (GRCm39) |
H221P |
possibly damaging |
Het |
Or4c15 |
T |
C |
2: 88,760,324 (GRCm39) |
I112V |
possibly damaging |
Het |
Or5p61 |
T |
A |
7: 107,758,445 (GRCm39) |
I212F |
probably benign |
Het |
Oxr1 |
T |
C |
15: 41,677,045 (GRCm39) |
S132P |
probably damaging |
Het |
Pcdhac1 |
C |
T |
18: 37,224,933 (GRCm39) |
T582I |
probably damaging |
Het |
Prl7a2 |
A |
G |
13: 27,844,858 (GRCm39) |
I176T |
probably damaging |
Het |
Rabgap1l |
T |
C |
1: 160,169,734 (GRCm39) |
T30A |
possibly damaging |
Het |
Rapgef2 |
A |
G |
3: 78,976,480 (GRCm39) |
M1294T |
probably benign |
Het |
Rbm22 |
G |
A |
18: 60,697,463 (GRCm39) |
R56H |
probably damaging |
Het |
Rnmt |
T |
A |
18: 68,438,952 (GRCm39) |
N20K |
probably damaging |
Het |
Scn7a |
T |
A |
2: 66,531,228 (GRCm39) |
T550S |
possibly damaging |
Het |
Shank1 |
T |
A |
7: 43,962,638 (GRCm39) |
Y117* |
probably null |
Het |
Skint5 |
T |
A |
4: 113,751,052 (GRCm39) |
K331I |
unknown |
Het |
Slc5a1 |
A |
G |
5: 33,304,055 (GRCm39) |
Y290C |
possibly damaging |
Het |
Slfn14 |
T |
C |
11: 83,174,244 (GRCm39) |
E249G |
probably benign |
Het |
Smarcal1 |
T |
C |
1: 72,650,496 (GRCm39) |
S544P |
probably damaging |
Het |
St6galnac3 |
A |
T |
3: 153,117,166 (GRCm39) |
Y186N |
probably damaging |
Het |
Tbc1d1 |
T |
C |
5: 64,420,900 (GRCm39) |
F346S |
probably damaging |
Het |
Tdrd5 |
A |
T |
1: 156,129,945 (GRCm39) |
I75K |
probably benign |
Het |
Tnrc6a |
T |
C |
7: 122,791,313 (GRCm39) |
M1737T |
possibly damaging |
Het |
Toe1 |
A |
T |
4: 116,662,397 (GRCm39) |
Y283N |
probably damaging |
Het |
Tubal3 |
G |
T |
13: 3,978,185 (GRCm39) |
G34C |
probably damaging |
Het |
Uxs1 |
A |
G |
1: 43,814,006 (GRCm39) |
L77P |
probably damaging |
Het |
Vmn1r212 |
T |
C |
13: 23,068,078 (GRCm39) |
Y85C |
probably damaging |
Het |
Yju2b |
A |
T |
8: 84,985,439 (GRCm39) |
C277S |
probably benign |
Het |
Zdhhc4 |
A |
G |
5: 143,307,536 (GRCm39) |
S162P |
probably damaging |
Het |
Zfp712 |
A |
G |
13: 67,190,177 (GRCm39) |
S117P |
probably benign |
Het |
Zic4 |
G |
T |
9: 91,261,257 (GRCm39) |
G164C |
probably damaging |
Het |
|
Other mutations in Dpy19l4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00479:Dpy19l4
|
APN |
4 |
11,290,411 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01402:Dpy19l4
|
APN |
4 |
11,273,006 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01404:Dpy19l4
|
APN |
4 |
11,273,006 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01643:Dpy19l4
|
APN |
4 |
11,290,184 (GRCm39) |
splice site |
probably benign |
|
IGL01758:Dpy19l4
|
APN |
4 |
11,265,846 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01896:Dpy19l4
|
APN |
4 |
11,267,752 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02222:Dpy19l4
|
APN |
4 |
11,281,116 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02314:Dpy19l4
|
APN |
4 |
11,267,720 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02422:Dpy19l4
|
APN |
4 |
11,265,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02565:Dpy19l4
|
APN |
4 |
11,309,440 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03121:Dpy19l4
|
APN |
4 |
11,303,334 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03357:Dpy19l4
|
APN |
4 |
11,267,615 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03368:Dpy19l4
|
APN |
4 |
11,290,253 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0003:Dpy19l4
|
UTSW |
4 |
11,267,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R0481:Dpy19l4
|
UTSW |
4 |
11,272,993 (GRCm39) |
splice site |
probably benign |
|
R0506:Dpy19l4
|
UTSW |
4 |
11,289,715 (GRCm39) |
missense |
probably benign |
0.07 |
R1114:Dpy19l4
|
UTSW |
4 |
11,287,643 (GRCm39) |
splice site |
probably benign |
|
R1332:Dpy19l4
|
UTSW |
4 |
11,276,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R1336:Dpy19l4
|
UTSW |
4 |
11,276,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R1355:Dpy19l4
|
UTSW |
4 |
11,303,371 (GRCm39) |
nonsense |
probably null |
|
R1421:Dpy19l4
|
UTSW |
4 |
11,304,011 (GRCm39) |
missense |
probably benign |
0.09 |
R1422:Dpy19l4
|
UTSW |
4 |
11,317,168 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1465:Dpy19l4
|
UTSW |
4 |
11,296,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Dpy19l4
|
UTSW |
4 |
11,296,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R1766:Dpy19l4
|
UTSW |
4 |
11,303,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R1803:Dpy19l4
|
UTSW |
4 |
11,281,020 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2090:Dpy19l4
|
UTSW |
4 |
11,304,344 (GRCm39) |
missense |
probably benign |
0.34 |
R2324:Dpy19l4
|
UTSW |
4 |
11,276,857 (GRCm39) |
unclassified |
probably benign |
|
R2446:Dpy19l4
|
UTSW |
4 |
11,304,143 (GRCm39) |
splice site |
probably null |
|
R3769:Dpy19l4
|
UTSW |
4 |
11,276,868 (GRCm39) |
splice site |
probably null |
|
R4151:Dpy19l4
|
UTSW |
4 |
11,309,485 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4472:Dpy19l4
|
UTSW |
4 |
11,304,053 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4609:Dpy19l4
|
UTSW |
4 |
11,295,999 (GRCm39) |
nonsense |
probably null |
|
R4708:Dpy19l4
|
UTSW |
4 |
11,277,970 (GRCm39) |
missense |
probably benign |
0.00 |
R4997:Dpy19l4
|
UTSW |
4 |
11,287,493 (GRCm39) |
missense |
probably benign |
0.01 |
R5085:Dpy19l4
|
UTSW |
4 |
11,265,943 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5088:Dpy19l4
|
UTSW |
4 |
11,303,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R5288:Dpy19l4
|
UTSW |
4 |
11,304,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R5288:Dpy19l4
|
UTSW |
4 |
11,289,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R5413:Dpy19l4
|
UTSW |
4 |
11,289,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R5758:Dpy19l4
|
UTSW |
4 |
11,276,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R6024:Dpy19l4
|
UTSW |
4 |
11,276,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R6312:Dpy19l4
|
UTSW |
4 |
11,289,671 (GRCm39) |
nonsense |
probably null |
|
R6339:Dpy19l4
|
UTSW |
4 |
11,285,111 (GRCm39) |
missense |
probably damaging |
0.98 |
R7055:Dpy19l4
|
UTSW |
4 |
11,290,291 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7359:Dpy19l4
|
UTSW |
4 |
11,273,125 (GRCm39) |
missense |
probably benign |
0.00 |
R7525:Dpy19l4
|
UTSW |
4 |
11,317,160 (GRCm39) |
nonsense |
probably null |
|
R7579:Dpy19l4
|
UTSW |
4 |
11,265,909 (GRCm39) |
missense |
probably benign |
0.39 |
R7913:Dpy19l4
|
UTSW |
4 |
11,265,859 (GRCm39) |
nonsense |
probably null |
|
R8047:Dpy19l4
|
UTSW |
4 |
11,317,139 (GRCm39) |
missense |
probably benign |
0.00 |
R8049:Dpy19l4
|
UTSW |
4 |
11,303,982 (GRCm39) |
missense |
probably benign |
0.44 |
R8495:Dpy19l4
|
UTSW |
4 |
11,267,659 (GRCm39) |
missense |
probably benign |
|
R8911:Dpy19l4
|
UTSW |
4 |
11,317,078 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8928:Dpy19l4
|
UTSW |
4 |
11,304,674 (GRCm39) |
intron |
probably benign |
|
R8955:Dpy19l4
|
UTSW |
4 |
11,290,195 (GRCm39) |
missense |
probably benign |
0.00 |
R9332:Dpy19l4
|
UTSW |
4 |
11,304,298 (GRCm39) |
critical splice donor site |
probably null |
|
R9372:Dpy19l4
|
UTSW |
4 |
11,303,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9401:Dpy19l4
|
UTSW |
4 |
11,265,806 (GRCm39) |
missense |
probably benign |
0.29 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGGCAGGGTACATAACAAG -3'
(R):5'- AACTTTTCTGTAGGGCACTAAGAGG -3'
Sequencing Primer
(F):5'- TTTTTCCCATTCAGCTACAAAGG -3'
(R):5'- AGAGGCAAATGTAGAATCCCTTAC -3'
|
Posted On |
2016-07-20 |