Incidental Mutation 'R6312:Dpy19l4'
| ID |
509801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l4
|
| Ensembl Gene |
ENSMUSG00000045205 |
| Gene Name |
dpy-19 like 4 |
| Synonyms |
Narg3, LOC381510 |
| MMRRC Submission |
044415-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R6312 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
11261315-11322137 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 11289671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 205
(K205*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084892]
[ENSMUST00000128024]
[ENSMUST00000139385]
[ENSMUST00000142005]
|
| AlphaFold |
A2AJQ3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084892
AA Change: K391*
|
| SMART Domains |
Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: K391*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
59 |
714 |
3e-213 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128024
AA Change: K347*
|
| SMART Domains |
Protein: ENSMUSP00000122823
Gene: ENSMUSG00000045205
AA Change: K347*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
58 |
293 |
1e-89 |
PFAM |
|
Pfam:Dpy19
|
291 |
524 |
4.8e-51 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000139385
AA Change: K205*
|
| SMART Domains |
Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: K205*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,936,541 (GRCm39) |
S472P |
possibly damaging |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,255,072 (GRCm39) |
H164L |
probably benign |
Het |
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| AC153874.1 |
T |
A |
10: 77,682,961 (GRCm39) |
|
probably benign |
Het |
| Acadvl |
T |
A |
11: 69,902,593 (GRCm39) |
M375L |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arl4d |
T |
C |
11: 101,558,079 (GRCm39) |
*202R |
probably null |
Het |
| B3gat2 |
G |
T |
1: 23,854,548 (GRCm39) |
E83* |
probably null |
Het |
| Bmper |
C |
A |
9: 23,318,087 (GRCm39) |
Q569K |
possibly damaging |
Het |
| C2cd4d |
C |
A |
3: 94,271,742 (GRCm39) |
P336H |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,891,960 (GRCm39) |
S363T |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,644,996 (GRCm39) |
V119A |
probably benign |
Het |
| Cfhr2 |
C |
T |
1: 139,758,817 (GRCm39) |
V78I |
possibly damaging |
Het |
| Crocc2 |
A |
T |
1: 93,143,432 (GRCm39) |
K1345* |
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,702,268 (GRCm39) |
M255T |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,930,669 (GRCm39) |
I834F |
possibly damaging |
Het |
| Epg5 |
T |
A |
18: 78,022,426 (GRCm39) |
D1056E |
possibly damaging |
Het |
| Fam20a |
A |
C |
11: 109,565,456 (GRCm39) |
C452G |
probably damaging |
Het |
| Gnai2 |
A |
T |
9: 107,512,316 (GRCm39) |
V34E |
probably damaging |
Het |
| Gng3 |
A |
G |
19: 8,815,997 (GRCm39) |
V7A |
probably benign |
Het |
| Hdc |
A |
G |
2: 126,449,326 (GRCm39) |
V77A |
possibly damaging |
Het |
| Hint1 |
G |
A |
11: 54,760,816 (GRCm39) |
C85Y |
probably benign |
Het |
| Kif17 |
C |
T |
4: 138,015,504 (GRCm39) |
S551L |
probably benign |
Het |
| Lgr5 |
A |
G |
10: 115,288,829 (GRCm39) |
L581P |
probably damaging |
Het |
| Lig4 |
G |
T |
8: 10,021,739 (GRCm39) |
N680K |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,370,803 (GRCm39) |
Y138F |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,267,025 (GRCm39) |
G4294E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,866,246 (GRCm39) |
M1165T |
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,396,175 (GRCm39) |
I489T |
possibly damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,119,223 (GRCm39) |
N24I |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,148,821 (GRCm39) |
T143A |
probably benign |
Het |
| Nudt2 |
A |
G |
4: 41,480,386 (GRCm39) |
T90A |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,477 (GRCm39) |
I300L |
probably benign |
Het |
| Or52n20 |
T |
A |
7: 104,320,796 (GRCm39) |
Y296N |
probably damaging |
Het |
| Or8b36 |
GTTT |
GTTTGCTGTTTT |
9: 37,937,842 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TTT |
TTTGCTGATT |
9: 37,937,843 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
T |
TGCTGTTC |
9: 37,937,845 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TTGCTGT |
TTGCTGTCTGCTGT |
9: 37,937,837 (GRCm39) |
|
probably null |
Het |
| Or8k53 |
A |
T |
2: 86,177,925 (GRCm39) |
F62I |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,853,119 (GRCm39) |
V592A |
probably damaging |
Het |
| Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
| Rsf1 |
A |
AGGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rusf1 |
T |
C |
7: 127,872,715 (GRCm39) |
K411R |
probably benign |
Het |
| Slc6a7 |
A |
G |
18: 61,135,457 (GRCm39) |
S381P |
probably benign |
Het |
| Slitrk6 |
A |
G |
14: 110,987,679 (GRCm39) |
L676P |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,434,300 (GRCm39) |
|
probably null |
Het |
| Tectb |
CT |
C |
19: 55,181,094 (GRCm39) |
|
probably null |
Homo |
| Tma16 |
T |
C |
8: 66,934,118 (GRCm39) |
E79G |
probably damaging |
Het |
| Trim14 |
G |
T |
4: 46,507,257 (GRCm39) |
H320N |
probably damaging |
Het |
| Trim63 |
A |
G |
4: 134,053,008 (GRCm39) |
D323G |
probably damaging |
Het |
| Vash2 |
C |
A |
1: 190,690,880 (GRCm39) |
R309L |
probably benign |
Het |
| Vmn1r62 |
G |
A |
7: 5,679,083 (GRCm39) |
V255M |
possibly damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,332,566 (GRCm39) |
|
probably null |
Het |
| Zfp382 |
G |
A |
7: 29,833,963 (GRCm39) |
R538H |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,673,184 (GRCm39) |
D49E |
probably benign |
Het |
| Zfp60 |
T |
C |
7: 27,448,201 (GRCm39) |
C290R |
probably damaging |
Het |
| Zfp69 |
G |
A |
4: 120,806,714 (GRCm39) |
|
probably benign |
Het |
| Zfp790 |
G |
T |
7: 29,527,647 (GRCm39) |
G111W |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,807,429 (GRCm39) |
I207T |
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 |
|
|
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 |
|
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'- ATAATCCACAGGGCCTTGAAG -3'
(R):5'- GCAAACTGTGTGCTACTTAATTCAC -3'
Sequencing Primer
(F):5'- CCTTGAAGGCTATCCTCAATACTAC -3'
(R):5'- TACTGTCAAAAGCATAGGCATAAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation