Incidental Mutation 'R1421:Dpy19l4'
| ID |
159806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l4
|
| Ensembl Gene |
ENSMUSG00000045205 |
| Gene Name |
dpy-19 like 4 |
| Synonyms |
Narg3, LOC381510 |
| MMRRC Submission |
039477-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1421 (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 11304011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 133
(M133K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084892]
[ENSMUST00000128024]
[ENSMUST00000139385]
[ENSMUST00000142005]
|
| AlphaFold |
A2AJQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084892
AA Change: M133K
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: M133K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
59 |
714 |
3e-213 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128024
AA Change: M133K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000122823
Gene: ENSMUSG00000045205
AA Change: M133K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
58 |
293 |
1e-89 |
PFAM |
|
Pfam:Dpy19
|
291 |
524 |
4.8e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139385
|
| SMART Domains |
Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
| 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
AA Change: M133K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000119923
Gene: ENSMUSG00000045205
AA Change: M133K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
58 |
253 |
6.9e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144941
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
96% (54/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,923 (GRCm39) |
T1344A |
probably benign |
Het |
| Abcf1 |
G |
A |
17: 36,271,801 (GRCm39) |
A375V |
probably damaging |
Het |
| Adam20 |
T |
A |
8: 41,249,784 (GRCm39) |
H631Q |
possibly damaging |
Het |
| Adcy10 |
T |
C |
1: 165,391,516 (GRCm39) |
S1258P |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,643,389 (GRCm39) |
I717T |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,992,995 (GRCm39) |
F4760I |
possibly damaging |
Het |
| Ano6 |
A |
G |
15: 95,811,266 (GRCm39) |
K122R |
probably benign |
Het |
| Arhgap5 |
T |
C |
12: 52,563,631 (GRCm39) |
C201R |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,714,080 (GRCm39) |
|
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,110,291 (GRCm39) |
I331K |
probably damaging |
Het |
| Coq8a |
A |
G |
1: 179,998,006 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,942,511 (GRCm39) |
V662A |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,803,910 (GRCm39) |
M1667K |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,580,032 (GRCm39) |
|
probably benign |
Het |
| Dnajc6 |
A |
T |
4: 101,468,513 (GRCm39) |
Y251F |
probably damaging |
Het |
| Emb |
T |
C |
13: 117,408,624 (GRCm39) |
Y322H |
probably benign |
Het |
| Gcm1 |
A |
T |
9: 77,966,982 (GRCm39) |
H67L |
probably damaging |
Het |
| Gls2 |
A |
T |
10: 128,037,217 (GRCm39) |
K253* |
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,866,944 (GRCm39) |
S196T |
probably benign |
Het |
| Gm43302 |
T |
C |
5: 105,365,215 (GRCm39) |
T598A |
probably benign |
Het |
| Gramd1a |
T |
A |
7: 30,842,291 (GRCm39) |
Q90L |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,309,960 (GRCm39) |
Y352C |
probably damaging |
Het |
| Ifi203-ps |
T |
C |
1: 173,625,563 (GRCm39) |
|
noncoding transcript |
Het |
| Ifitm2 |
T |
C |
7: 140,534,972 (GRCm39) |
I121V |
probably benign |
Het |
| Insyn2a |
A |
T |
7: 134,500,960 (GRCm39) |
|
probably benign |
Het |
| Kptn |
T |
G |
7: 15,856,949 (GRCm39) |
|
probably benign |
Het |
| L2hgdh |
C |
T |
12: 69,748,092 (GRCm39) |
D345N |
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,584,079 (GRCm39) |
H6R |
probably benign |
Het |
| Lrrc4b |
A |
G |
7: 44,110,475 (GRCm39) |
I116V |
probably benign |
Het |
| Misp |
A |
G |
10: 79,662,681 (GRCm39) |
D366G |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,512,748 (GRCm39) |
E104G |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Parp1 |
T |
C |
1: 180,427,653 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
G |
A |
1: 65,310,470 (GRCm39) |
G1919D |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,126,765 (GRCm39) |
|
probably benign |
Het |
| Prrc2b |
C |
T |
2: 32,090,990 (GRCm39) |
S454F |
possibly damaging |
Het |
| Selenbp1 |
T |
C |
3: 94,851,183 (GRCm39) |
S360P |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,336,085 (GRCm39) |
I352N |
probably damaging |
Het |
| Snx9 |
G |
A |
17: 5,952,759 (GRCm39) |
G197D |
probably benign |
Het |
| Ston1 |
T |
C |
17: 88,943,221 (GRCm39) |
V209A |
probably benign |
Het |
| Taf7l2 |
A |
G |
10: 115,949,343 (GRCm39) |
V61A |
probably damaging |
Het |
| Tex36 |
A |
T |
7: 133,197,078 (GRCm39) |
|
probably null |
Het |
| Tnnt3 |
A |
G |
7: 142,065,103 (GRCm39) |
E108G |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,285,440 (GRCm39) |
F87I |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,594,716 (GRCm39) |
I479T |
possibly damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,349,636 (GRCm39) |
N22D |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp735 |
C |
A |
11: 73,601,523 (GRCm39) |
L156I |
probably benign |
Het |
| Zfp820 |
A |
T |
17: 22,038,861 (GRCm39) |
Y156N |
possibly 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 |
|
|
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'- AGCCGTGACATACATTCCTTGTAATCC -3'
(R):5'- CAGCATCTACTGTAACATCTGAGTGCC -3'
Sequencing Primer
(F):5'- cgattctgctcccccac -3'
(R):5'- GTAACATCTGAGTGCCTTTTTTTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation