Incidental Mutation 'R5088:Dpy19l4'
| ID |
387560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l4
|
| Ensembl Gene |
ENSMUSG00000045205 |
| Gene Name |
dpy-19 like 4 |
| Synonyms |
Narg3, LOC381510 |
| MMRRC Submission |
042677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5088 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11261315-11322137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 11303357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 188
(T188K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084892]
[ENSMUST00000128024]
[ENSMUST00000139385]
[ENSMUST00000142005]
|
| AlphaFold |
A2AJQ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084892
AA Change: T188K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: T188K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
59 |
714 |
3e-213 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128024
AA Change: T188K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122823
Gene: ENSMUSG00000045205
AA Change: T188K
| 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: T2K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: T2K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
1 |
258 |
3.2e-71 |
PFAM |
|
Pfam:Dpy19
|
254 |
488 |
7e-70 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142005
AA Change: T188K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119923
Gene: ENSMUSG00000045205
AA Change: T188K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
58 |
253 |
6.9e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144941
|
| Meta Mutation Damage Score |
0.8419 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,883,939 (GRCm39) |
C640S |
probably damaging |
Het |
| 4931429L15Rik |
T |
C |
9: 46,217,038 (GRCm39) |
R246G |
probably benign |
Het |
| Aak1 |
T |
C |
6: 86,921,462 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
G |
16: 20,195,412 (GRCm39) |
L695P |
probably damaging |
Het |
| Alcam |
T |
A |
16: 52,109,290 (GRCm39) |
T328S |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,478,969 (GRCm39) |
|
probably benign |
Het |
| Arel1 |
A |
G |
12: 84,970,889 (GRCm39) |
L642P |
probably damaging |
Het |
| Atrip |
T |
C |
9: 108,888,964 (GRCm39) |
D741G |
probably damaging |
Het |
| Bmp1 |
T |
C |
14: 70,723,659 (GRCm39) |
T726A |
possibly damaging |
Het |
| Bnip3 |
A |
G |
7: 138,496,337 (GRCm39) |
|
probably null |
Het |
| Cacng5 |
C |
G |
11: 107,768,215 (GRCm39) |
C264S |
possibly damaging |
Het |
| Calr4 |
T |
A |
4: 109,101,859 (GRCm39) |
|
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,811,422 (GRCm39) |
T230S |
probably benign |
Het |
| Cdk16 |
T |
C |
X: 20,562,566 (GRCm39) |
|
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,791,148 (GRCm39) |
E337G |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,704,147 (GRCm39) |
I694V |
possibly damaging |
Het |
| Chsy3 |
T |
A |
18: 59,312,607 (GRCm39) |
V360D |
probably damaging |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
| Cyp20a1 |
A |
T |
1: 60,402,509 (GRCm39) |
H198L |
probably damaging |
Het |
| Dnai1 |
T |
A |
4: 41,597,630 (GRCm39) |
S38T |
probably benign |
Het |
| Dnai1 |
T |
G |
4: 41,632,251 (GRCm39) |
S562A |
probably benign |
Het |
| Ergic2 |
A |
G |
6: 148,084,621 (GRCm39) |
V304A |
probably damaging |
Het |
| Fam83a |
A |
G |
15: 57,873,196 (GRCm39) |
T342A |
probably benign |
Het |
| Fbxo7 |
A |
G |
10: 85,857,784 (GRCm39) |
|
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,727,084 (GRCm39) |
E3G |
possibly damaging |
Het |
| Glis3 |
G |
A |
19: 28,508,979 (GRCm39) |
P335L |
probably benign |
Het |
| Golph3l |
A |
T |
3: 95,524,501 (GRCm39) |
T251S |
possibly damaging |
Het |
| Hnf4g |
C |
T |
3: 3,722,181 (GRCm39) |
A445V |
probably benign |
Het |
| Hykk |
A |
G |
9: 54,853,763 (GRCm39) |
I362V |
probably benign |
Het |
| Il6st |
G |
A |
13: 112,627,089 (GRCm39) |
V294M |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,366,348 (GRCm39) |
I92V |
probably damaging |
Het |
| Kdm4c |
T |
C |
4: 74,252,936 (GRCm39) |
L501P |
probably benign |
Het |
| Mpi |
G |
A |
9: 57,457,887 (GRCm39) |
T105M |
probably damaging |
Het |
| Mrpl37 |
A |
T |
4: 106,921,919 (GRCm39) |
L132H |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,350,056 (GRCm39) |
T600S |
possibly damaging |
Het |
| Npl |
A |
T |
1: 153,384,890 (GRCm39) |
I249N |
possibly damaging |
Het |
| Or10j27 |
C |
T |
1: 172,958,606 (GRCm39) |
M59I |
probably damaging |
Het |
| Or7g30 |
A |
G |
9: 19,353,067 (GRCm39) |
N286S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,809,812 (GRCm39) |
K3497E |
possibly damaging |
Het |
| Ptprt |
T |
C |
2: 162,080,095 (GRCm39) |
N235D |
probably benign |
Het |
| Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
| Rcvrn |
A |
T |
11: 67,586,340 (GRCm39) |
Q33L |
probably benign |
Het |
| Rif1 |
A |
T |
2: 51,982,307 (GRCm39) |
K524I |
possibly damaging |
Het |
| Rnf139 |
A |
T |
15: 58,771,790 (GRCm39) |
N605I |
possibly damaging |
Het |
| Ryr2 |
C |
A |
13: 11,727,129 (GRCm39) |
G2411* |
probably null |
Het |
| Scn3a |
A |
T |
2: 65,302,643 (GRCm39) |
S1268T |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,382,196 (GRCm39) |
I784F |
probably damaging |
Het |
| Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
| Skint7 |
T |
C |
4: 111,837,627 (GRCm39) |
I135T |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,738,343 (GRCm39) |
N507K |
possibly damaging |
Het |
| Spata31d1a |
A |
C |
13: 59,848,966 (GRCm39) |
|
probably null |
Het |
| Spata7 |
A |
T |
12: 98,635,761 (GRCm39) |
D527V |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,140,833 (GRCm39) |
T1477A |
probably benign |
Het |
| Srl |
C |
A |
16: 4,300,633 (GRCm39) |
D375Y |
probably damaging |
Het |
| Stk4 |
A |
T |
2: 163,925,608 (GRCm39) |
K58* |
probably null |
Het |
| Svep1 |
T |
G |
4: 58,120,648 (GRCm39) |
H795P |
possibly damaging |
Het |
| Trak2 |
T |
A |
1: 58,974,967 (GRCm39) |
Q75L |
probably benign |
Het |
| Ubxn2a |
T |
A |
12: 4,933,904 (GRCm39) |
N169I |
probably damaging |
Het |
| Vmn1r216 |
T |
A |
13: 23,283,473 (GRCm39) |
L52* |
probably null |
Het |
| Vmn2r108 |
A |
T |
17: 20,690,454 (GRCm39) |
N459K |
possibly damaging |
Het |
| Vstm5 |
A |
G |
9: 15,168,601 (GRCm39) |
D55G |
possibly damaging |
Het |
| Wdr24 |
T |
A |
17: 26,047,181 (GRCm39) |
|
probably null |
Het |
| Zfp13 |
C |
A |
17: 23,796,035 (GRCm39) |
E179* |
probably null |
Het |
| Zfp839 |
T |
C |
12: 110,834,610 (GRCm39) |
S546P |
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 |
|
|
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'- ATCTAAGTTAGTCCCTGTGTGGAG -3'
(R):5'- TGTGTCTTCACTGTGACGTC -3'
Sequencing Primer
(F):5'- GTGTGGAGTCCTACCTAATCGTCAC -3'
(R):5'- ACGTCTGTTTTCCTACGTGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation