Incidental Mutation 'R4472:Dpy19l4'
| ID |
330399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l4
|
| Ensembl Gene |
ENSMUSG00000045205 |
| Gene Name |
dpy-19 like 4 |
| Synonyms |
Narg3, LOC381510 |
| MMRRC Submission |
041729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R4472 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11261315-11322137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 11304053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 119
(T119M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084892]
[ENSMUST00000128024]
[ENSMUST00000139385]
[ENSMUST00000142005]
|
| AlphaFold |
A2AJQ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084892
AA Change: T119M
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: T119M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
59 |
714 |
3e-213 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128024
AA Change: T119M
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122823
Gene: ENSMUSG00000045205
AA Change: T119M
| 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 |
possibly damaging
Transcript: ENSMUST00000142005
AA Change: T119M
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119923
Gene: ENSMUSG00000045205
AA Change: T119M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
58 |
253 |
6.9e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144941
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
A |
T |
9: 39,961,994 (GRCm39) |
|
noncoding transcript |
Het |
| Accsl |
T |
A |
2: 93,694,336 (GRCm39) |
|
probably null |
Het |
| Accsl |
G |
T |
2: 93,694,337 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
G |
A |
11: 7,080,369 (GRCm39) |
V371M |
probably damaging |
Het |
| Adgrb2 |
C |
T |
4: 129,902,146 (GRCm39) |
A509V |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,312,525 (GRCm39) |
Q754L |
probably damaging |
Het |
| Agap2 |
T |
C |
10: 126,927,082 (GRCm39) |
I1008T |
probably damaging |
Het |
| Aph1c |
T |
G |
9: 66,735,051 (GRCm39) |
H150P |
probably damaging |
Het |
| Atcay |
T |
C |
10: 81,048,361 (GRCm39) |
R242G |
possibly damaging |
Het |
| Atg2a |
G |
A |
19: 6,308,985 (GRCm39) |
V1724M |
probably damaging |
Het |
| Bbs12 |
T |
C |
3: 37,373,369 (GRCm39) |
V54A |
possibly damaging |
Het |
| Card14 |
A |
G |
11: 119,224,784 (GRCm39) |
M604V |
possibly damaging |
Het |
| Cd28 |
A |
T |
1: 60,802,393 (GRCm39) |
H104L |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 10,048,776 (GRCm39) |
D262E |
probably damaging |
Het |
| Col6a3 |
A |
G |
1: 90,749,736 (GRCm39) |
V366A |
probably benign |
Het |
| Csnk1d |
G |
A |
11: 120,855,800 (GRCm39) |
|
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,803,063 (GRCm39) |
|
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,540,153 (GRCm39) |
V316A |
possibly damaging |
Het |
| Fbrsl1 |
G |
A |
5: 110,526,932 (GRCm39) |
|
probably benign |
Het |
| Fbxo10 |
C |
T |
4: 45,043,693 (GRCm39) |
R710H |
probably damaging |
Het |
| Fbxw9 |
G |
A |
8: 85,786,829 (GRCm39) |
D25N |
probably damaging |
Het |
| Gm14295 |
C |
T |
2: 176,501,386 (GRCm39) |
T292I |
possibly damaging |
Het |
| Gm4884 |
C |
G |
7: 40,692,687 (GRCm39) |
Q219E |
probably benign |
Het |
| Gpr150 |
A |
G |
13: 76,204,273 (GRCm39) |
V224A |
probably benign |
Het |
| Hps1 |
A |
T |
19: 42,750,935 (GRCm39) |
I355N |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,804,178 (GRCm39) |
S374P |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,289,782 (GRCm39) |
N5458K |
probably damaging |
Het |
| Man1b1 |
C |
G |
2: 25,222,867 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,671,645 (GRCm39) |
|
probably null |
Het |
| Mrgpra4 |
T |
C |
7: 47,631,539 (GRCm39) |
T21A |
probably benign |
Het |
| Myo1a |
G |
T |
10: 127,546,327 (GRCm39) |
V277L |
probably benign |
Het |
| Nkain4 |
C |
G |
2: 180,596,415 (GRCm39) |
M1I |
probably null |
Het |
| Nktr |
T |
C |
9: 121,577,962 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,515 (GRCm39) |
S276P |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,879,220 (GRCm39) |
D373E |
possibly damaging |
Het |
| Or8g37 |
T |
A |
9: 39,731,870 (GRCm39) |
*312R |
probably null |
Het |
| Oser1 |
T |
A |
2: 163,257,500 (GRCm39) |
E11V |
probably null |
Het |
| Oser1 |
C |
T |
2: 163,257,501 (GRCm39) |
E11K |
probably damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,093,288 (GRCm39) |
|
probably null |
Het |
| Pcdh20 |
T |
C |
14: 88,706,434 (GRCm39) |
S289G |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,314,176 (GRCm39) |
D1183G |
probably damaging |
Het |
| Pign |
T |
C |
1: 105,575,945 (GRCm39) |
K232E |
probably benign |
Het |
| Polk |
A |
G |
13: 96,630,413 (GRCm39) |
S383P |
probably damaging |
Het |
| Prom2 |
C |
A |
2: 127,382,111 (GRCm39) |
R101L |
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,027 (GRCm39) |
V482A |
probably benign |
Het |
| Rexo1 |
A |
T |
10: 80,378,492 (GRCm39) |
S476T |
probably damaging |
Het |
| Rnf31 |
T |
A |
14: 55,840,777 (GRCm39) |
Y1015N |
probably damaging |
Het |
| Spata3 |
T |
C |
1: 85,954,152 (GRCm39) |
Y305H |
probably benign |
Het |
| Sv2a |
G |
A |
3: 96,099,810 (GRCm39) |
V587M |
probably benign |
Het |
| Synj1 |
A |
G |
16: 90,766,069 (GRCm39) |
|
probably null |
Het |
| Syt17 |
A |
G |
7: 118,036,040 (GRCm39) |
|
probably null |
Het |
| Taf2 |
T |
C |
15: 54,922,276 (GRCm39) |
D337G |
possibly damaging |
Het |
| Tcaf1 |
A |
C |
6: 42,656,248 (GRCm39) |
S243A |
probably benign |
Het |
| Tmem9 |
A |
G |
1: 135,955,234 (GRCm39) |
T123A |
probably benign |
Het |
| Trav4-4-dv10 |
T |
C |
14: 53,921,187 (GRCm39) |
|
probably benign |
Het |
| Trbv15 |
G |
A |
6: 41,118,493 (GRCm39) |
R83Q |
probably damaging |
Het |
| Trim27 |
A |
G |
13: 21,374,056 (GRCm39) |
I268V |
probably benign |
Het |
| Tubgcp6 |
T |
A |
15: 88,987,857 (GRCm39) |
S1031C |
probably damaging |
Het |
| Vmn1r89 |
C |
A |
7: 12,953,799 (GRCm39) |
H110Q |
probably benign |
Het |
| Vmn2r30 |
T |
C |
7: 7,320,091 (GRCm39) |
N545S |
probably damaging |
Het |
| Wls |
G |
A |
3: 159,603,020 (GRCm39) |
M144I |
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,076,344 (GRCm39) |
|
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,913,023 (GRCm39) |
L56Q |
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 |
|
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'- AGACGTCACAGTGAAGACAC -3'
(R):5'- AGCTTTAGGATGCGGGATATGATAG -3'
Sequencing Primer
(F):5'- GAACTGTCTACAACTTCTGGAGCAG -3'
(R):5'- TAGTAAGTTGGGAAGATGCAGCATC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation