Incidental Mutation 'R8495:Dpy19l4'
| ID |
658219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l4
|
| Ensembl Gene |
ENSMUSG00000045205 |
| Gene Name |
dpy-19 like 4 |
| Synonyms |
Narg3, LOC381510 |
| MMRRC Submission |
067937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R8495 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11261315-11322137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 11267659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 427
(T427M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084892]
[ENSMUST00000139385]
|
| AlphaFold |
A2AJQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084892
AA Change: T653M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: T653M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
59 |
714 |
3e-213 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139385
AA Change: T427M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: T427M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
1 |
258 |
3.2e-71 |
PFAM |
|
Pfam:Dpy19
|
254 |
488 |
7e-70 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
A |
G |
5: 48,536,699 (GRCm39) |
T132A |
possibly damaging |
Het |
| Abcb1b |
T |
G |
5: 8,915,865 (GRCm39) |
V1249G |
probably damaging |
Het |
| Cdc5l |
A |
G |
17: 45,737,449 (GRCm39) |
L103P |
probably damaging |
Het |
| Clrn2 |
G |
T |
5: 45,617,485 (GRCm39) |
A119S |
possibly damaging |
Het |
| Cop1 |
A |
T |
1: 159,077,600 (GRCm39) |
H145L |
probably benign |
Het |
| Cyp4f13 |
G |
C |
17: 33,143,833 (GRCm39) |
P497R |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,794,161 (GRCm39) |
E660G |
probably damaging |
Het |
| Dhx34 |
T |
C |
7: 15,952,472 (GRCm39) |
Y51C |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,409,414 (GRCm39) |
I3611V |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,181,622 (GRCm39) |
L1647Q |
probably benign |
Het |
| Eef2k |
T |
C |
7: 120,487,103 (GRCm39) |
L417P |
probably benign |
Het |
| Eng |
A |
G |
2: 32,568,906 (GRCm39) |
S477G |
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,870,012 (GRCm39) |
I424T |
probably benign |
Het |
| Faim2 |
A |
G |
15: 99,408,473 (GRCm39) |
V253A |
probably benign |
Het |
| Farp2 |
A |
G |
1: 93,531,139 (GRCm39) |
I546V |
possibly damaging |
Het |
| Fcgbp |
T |
G |
7: 27,785,978 (GRCm39) |
Y472D |
probably damaging |
Het |
| Gm43302 |
A |
T |
5: 105,424,570 (GRCm39) |
C357S |
possibly damaging |
Het |
| Gm47189 |
T |
C |
14: 41,492,053 (GRCm39) |
T75A |
probably damaging |
Het |
| Mms22l |
A |
G |
4: 24,496,908 (GRCm39) |
M1V |
probably null |
Het |
| Myo3a |
A |
T |
2: 22,401,084 (GRCm39) |
I618F |
probably damaging |
Het |
| Nqo2 |
T |
C |
13: 34,165,477 (GRCm39) |
F125L |
probably damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,593 (GRCm39) |
M41K |
possibly damaging |
Het |
| Pdcd6ip |
G |
A |
9: 113,518,775 (GRCm39) |
H162Y |
probably benign |
Het |
| Potefam1 |
C |
T |
2: 111,059,755 (GRCm39) |
M1I |
probably null |
Het |
| Potegl |
A |
G |
2: 23,097,852 (GRCm39) |
E10G |
probably benign |
Het |
| Rad9b |
T |
C |
5: 122,471,096 (GRCm39) |
|
probably null |
Het |
| Robo3 |
A |
G |
9: 37,336,664 (GRCm39) |
F368S |
probably damaging |
Het |
| Rsph4a |
G |
A |
10: 33,781,488 (GRCm39) |
A113T |
probably benign |
Het |
| Smc2 |
A |
T |
4: 52,450,992 (GRCm39) |
N270I |
probably benign |
Het |
| Son |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,183 (GRCm39) |
|
probably benign |
Het |
| Spsb4 |
A |
G |
9: 96,877,622 (GRCm39) |
|
probably null |
Het |
| Spta1 |
G |
A |
1: 174,043,051 (GRCm39) |
R1399Q |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,877,790 (GRCm39) |
D749G |
probably damaging |
Het |
| Tas2r115 |
A |
T |
6: 132,714,887 (GRCm39) |
N21K |
probably damaging |
Het |
| Tbkbp1 |
A |
G |
11: 97,037,429 (GRCm39) |
V221A |
probably benign |
Het |
| Tln2 |
G |
T |
9: 67,261,749 (GRCm39) |
N663K |
probably benign |
Het |
| Tmprss11g |
A |
T |
5: 86,640,119 (GRCm39) |
I170K |
probably benign |
Het |
| Tnfrsf21 |
G |
A |
17: 43,349,128 (GRCm39) |
E247K |
probably benign |
Het |
| Trim23 |
T |
C |
13: 104,337,817 (GRCm39) |
Y522H |
probably benign |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,879 (GRCm39) |
C170Y |
probably damaging |
Het |
| Vwa8 |
G |
T |
14: 79,174,617 (GRCm39) |
E349* |
probably null |
Het |
| Xpo7 |
A |
G |
14: 70,907,989 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ATGAACCTTACGAGCTCCCC -3'
(R):5'- GGGGTTCTATTGAAGCTGTAATTTTA -3'
Sequencing Primer
(F):5'- GTCACCCTGGTTACTAGATAGCAG -3'
(R):5'- AAGCTGTAATTTTAATTAACAGGTGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation