Incidental Mutation 'R7579:Dpy19l4'
| ID |
586627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l4
|
| Ensembl Gene |
ENSMUSG00000045205 |
| Gene Name |
dpy-19 like 4 |
| Synonyms |
Narg3, LOC381510 |
| MMRRC Submission |
045633-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R7579 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11261315-11322137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11265909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 680
(S680T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084892]
[ENSMUST00000139385]
|
| AlphaFold |
A2AJQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084892
AA Change: S680T
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: S680T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
59 |
714 |
3e-213 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139385
AA Change: S454T
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: S454T
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (51/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
G |
T |
7: 119,292,933 (GRCm39) |
R21L |
probably benign |
Het |
| Adgb |
T |
A |
10: 10,286,562 (GRCm39) |
R120* |
probably null |
Het |
| Adgra3 |
C |
A |
5: 50,144,977 (GRCm39) |
A539S |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,740,047 (GRCm39) |
S1946P |
unknown |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
A |
T |
13: 113,173,582 (GRCm39) |
|
probably null |
Het |
| Cfh |
T |
G |
1: 140,036,328 (GRCm39) |
D730A |
possibly damaging |
Het |
| Dennd1a |
T |
C |
2: 37,748,444 (GRCm39) |
H345R |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,388,294 (GRCm39) |
S614G |
possibly damaging |
Het |
| Dio1 |
C |
T |
4: 107,149,583 (GRCm39) |
V240I |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,492,460 (GRCm39) |
D1200G |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Fcrlb |
T |
C |
1: 170,735,416 (GRCm39) |
|
probably null |
Het |
| Gad1 |
T |
A |
2: 70,417,476 (GRCm39) |
I253K |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,054,688 (GRCm39) |
D665G |
probably damaging |
Het |
| Gldn |
A |
G |
9: 54,245,648 (GRCm39) |
T400A |
probably benign |
Het |
| Gm1110 |
C |
A |
9: 26,795,122 (GRCm39) |
V455L |
possibly damaging |
Het |
| Gm11444 |
A |
G |
11: 85,741,069 (GRCm39) |
V30A |
unknown |
Het |
| Gm5134 |
T |
C |
10: 75,800,271 (GRCm39) |
S51P |
probably damaging |
Het |
| Gprc6a |
C |
T |
10: 51,502,883 (GRCm39) |
A327T |
probably benign |
Het |
| Gstt2 |
A |
T |
10: 75,670,019 (GRCm39) |
D34E |
probably benign |
Het |
| Icam2 |
A |
G |
11: 106,271,589 (GRCm39) |
F78L |
probably damaging |
Het |
| Jakmip1 |
T |
G |
5: 37,284,802 (GRCm39) |
C630G |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,386,686 (GRCm39) |
N523I |
probably damaging |
Het |
| Klf10 |
A |
G |
15: 38,297,282 (GRCm39) |
S253P |
probably benign |
Het |
| Mmd2 |
A |
T |
5: 142,594,361 (GRCm39) |
M1K |
probably null |
Het |
| Mroh2b |
G |
T |
15: 4,960,543 (GRCm39) |
G759C |
probably benign |
Het |
| Or10w3 |
T |
C |
19: 13,704,465 (GRCm39) |
L280P |
probably damaging |
Het |
| Or2b7 |
A |
T |
13: 21,740,176 (GRCm39) |
N5K |
probably benign |
Het |
| Or8k32 |
C |
T |
2: 86,368,872 (GRCm39) |
C127Y |
probably damaging |
Het |
| Orc5 |
A |
G |
5: 22,755,197 (GRCm39) |
F22S |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,329,021 (GRCm39) |
I499V |
probably benign |
Het |
| Ptbp1 |
A |
G |
10: 79,694,954 (GRCm39) |
N94S |
probably benign |
Het |
| Rassf3 |
C |
A |
10: 121,312,103 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
C |
T |
5: 28,573,264 (GRCm39) |
P455S |
probably damaging |
Het |
| Sgcd |
C |
G |
11: 47,016,481 (GRCm39) |
G127A |
possibly damaging |
Het |
| Slc22a13 |
A |
G |
9: 119,024,226 (GRCm39) |
I336T |
possibly damaging |
Het |
| Slc25a31 |
A |
T |
3: 40,679,471 (GRCm39) |
D312V |
possibly damaging |
Het |
| Slc37a4 |
G |
A |
9: 44,312,818 (GRCm39) |
S324N |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,221,207 (GRCm39) |
V13A |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,220,371 (GRCm39) |
H907R |
probably damaging |
Het |
| Supv3l1 |
A |
C |
10: 62,271,487 (GRCm39) |
V381G |
probably damaging |
Het |
| Supv3l1 |
C |
A |
10: 62,271,488 (GRCm39) |
V381L |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,299,324 (GRCm39) |
D977G |
probably damaging |
Het |
| Syt3 |
T |
A |
7: 44,040,272 (GRCm39) |
Y168* |
probably null |
Het |
| Tshz1 |
A |
T |
18: 84,032,790 (GRCm39) |
Y539* |
probably null |
Het |
| Ttll13 |
A |
G |
7: 79,907,981 (GRCm39) |
K501R |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,612,732 (GRCm39) |
Q17116* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,840,577 (GRCm39) |
T1656A |
probably damaging |
Het |
| Vmn1r73 |
G |
T |
7: 11,491,082 (GRCm39) |
C300F |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,992,948 (GRCm39) |
K521E |
probably damaging |
Het |
| Zdhhc11 |
T |
A |
13: 74,130,885 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
T |
C |
17: 21,941,907 (GRCm39) |
S361P |
possibly damaging |
Het |
| Zranb2 |
A |
G |
3: 157,246,309 (GRCm39) |
Y114C |
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 |
|
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 |
|
|
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'- CTGTGAGAAACCATGCAGGC -3'
(R):5'- ACCCAGTTAGTGTTCAGGAGTTC -3'
Sequencing Primer
(F):5'- GGCTCAAGAAAACTGCACTTG -3'
(R):5'- CAGTTAGTGTTCAGGAGTTCAGTGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation