Incidental Mutation 'R1332:Dpy19l4'
| ID |
156733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l4
|
| Ensembl Gene |
ENSMUSG00000045205 |
| Gene Name |
dpy-19 like 4 |
| Synonyms |
Narg3, LOC381510 |
| MMRRC Submission |
039397-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11261315-11322137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11276901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 333
(Y333N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084892]
[ENSMUST00000128024]
[ENSMUST00000139385]
[ENSMUST00000142005]
|
| AlphaFold |
A2AJQ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084892
AA Change: Y559N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: Y559N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
59 |
714 |
3e-213 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128024
AA Change: Y515N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122823
Gene: ENSMUSG00000045205
AA Change: Y515N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
58 |
293 |
1e-89 |
PFAM |
|
Pfam:Dpy19
|
291 |
524 |
4.8e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139385
AA Change: Y333N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: Y333N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158560
|
| Meta Mutation Damage Score |
0.4293 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 93.0%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933415A04Rik |
T |
TNNNNNNNNNNNNNNNNNN |
11: 43,478,256 (GRCm39) |
|
probably benign |
Het |
| Abhd14b |
A |
T |
9: 106,329,195 (GRCm39) |
I42F |
probably damaging |
Het |
| Apbb1 |
A |
T |
7: 105,214,750 (GRCm39) |
I498N |
possibly damaging |
Het |
| Asah2 |
A |
G |
19: 32,022,341 (GRCm39) |
I231T |
probably damaging |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Caskin2 |
C |
T |
11: 115,694,171 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
T |
C |
2: 76,844,784 (GRCm39) |
T1428A |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,569,912 (GRCm39) |
W477G |
possibly damaging |
Het |
| Cox16 |
T |
C |
12: 81,519,064 (GRCm39) |
D89G |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,934,041 (GRCm39) |
I3511T |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,529,528 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,855,167 (GRCm39) |
D1892G |
probably benign |
Het |
| Hlf |
G |
T |
11: 90,231,679 (GRCm39) |
S265* |
probably null |
Het |
| Immt |
T |
C |
6: 71,823,256 (GRCm39) |
|
probably benign |
Het |
| Lair1 |
T |
C |
7: 4,013,595 (GRCm39) |
E36G |
possibly damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,904,314 (GRCm39) |
|
probably benign |
Het |
| Nos1ap |
T |
C |
1: 170,177,001 (GRCm39) |
N134S |
probably damaging |
Het |
| Ogfod1 |
T |
C |
8: 94,784,727 (GRCm39) |
C344R |
probably damaging |
Het |
| Or6c212 |
A |
G |
10: 129,559,116 (GRCm39) |
L99S |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,368,943 (GRCm39) |
V863I |
probably damaging |
Het |
| Pmfbp1 |
T |
G |
8: 110,256,898 (GRCm39) |
I534S |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,274,315 (GRCm39) |
D1329G |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,391 (GRCm39) |
T423A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,968,326 (GRCm39) |
W170R |
probably benign |
Het |
| Scarb2 |
C |
T |
5: 92,599,205 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tlr3 |
A |
C |
8: 45,851,774 (GRCm39) |
N374K |
probably damaging |
Het |
| Uck1 |
T |
C |
2: 32,149,666 (GRCm39) |
D71G |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,841,174 (GRCm39) |
E497K |
probably damaging |
Het |
| Vmn2r86 |
G |
A |
10: 130,282,739 (GRCm39) |
L626F |
probably damaging |
Het |
| Vmn2r89 |
A |
G |
14: 51,692,559 (GRCm39) |
T121A |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,622,706 (GRCm39) |
S828P |
possibly damaging |
Het |
| Zfp334 |
A |
T |
2: 165,222,776 (GRCm39) |
H422Q |
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 |
|
|
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 |
|
R4722:Dpy19l4
|
UTSW |
4 |
11,290,521 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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'- ACTGCCACTCTCAGACTTACCAAGG -3'
(R):5'- CCGGTTGAAAAGATGACCAGGTCAG -3'
Sequencing Primer
(F):5'- CTCAGACTTACCAAGGTTGTTTC -3'
(R):5'- TGACCAGGTCAGTGAAGAGAAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation