Incidental Mutation 'IGL03178:Dpy19l3'
| ID |
412069 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpy19l3
|
| Ensembl Gene |
ENSMUSG00000043671 |
| Gene Name |
dpy-19 like C-mannosyltransferase 3 |
| Synonyms |
9330164H19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
IGL03178
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
35384925-35453879 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 35429154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 9
(Y9*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051377]
[ENSMUST00000144416]
|
| AlphaFold |
Q71B07 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000051377
AA Change: Y95*
|
| SMART Domains |
Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: Y95*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
55 |
712 |
2.2e-243 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144416
AA Change: Y9*
|
| SMART Domains |
Protein: ENSMUSP00000122489
Gene: ENSMUSG00000043671
AA Change: Y9*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
1 |
114 |
2.5e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205751
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add1 |
A |
G |
5: 34,771,589 (GRCm39) |
|
probably null |
Het |
| Afg2a |
T |
C |
3: 37,632,932 (GRCm39) |
L846P |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,473,870 (GRCm39) |
L711* |
probably null |
Het |
| Arfgef3 |
A |
T |
10: 18,488,973 (GRCm39) |
W1291R |
probably damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,271,739 (GRCm39) |
V545A |
possibly damaging |
Het |
| Best3 |
A |
G |
10: 116,824,684 (GRCm39) |
Y50C |
probably damaging |
Het |
| C1qtnf2 |
C |
A |
11: 43,381,816 (GRCm39) |
D179E |
probably damaging |
Het |
| Cdc40 |
A |
T |
10: 40,723,985 (GRCm39) |
S268T |
probably benign |
Het |
| Ces1a |
C |
T |
8: 93,747,517 (GRCm39) |
G505R |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,696,877 (GRCm39) |
N683K |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,051,556 (GRCm39) |
I767N |
probably damaging |
Het |
| Diras1 |
G |
T |
10: 80,858,211 (GRCm39) |
F13L |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,506,525 (GRCm39) |
N201D |
probably benign |
Het |
| Ect2 |
T |
A |
3: 27,203,009 (GRCm39) |
I79L |
probably benign |
Het |
| Eif2b4 |
A |
T |
5: 31,344,997 (GRCm39) |
I550N |
probably damaging |
Het |
| Enpp2 |
T |
A |
15: 54,729,402 (GRCm39) |
M476L |
probably benign |
Het |
| Gm20425 |
A |
G |
9: 103,087,751 (GRCm39) |
Y654H |
probably damaging |
Het |
| Gm5884 |
T |
C |
6: 128,622,690 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c6 |
A |
T |
10: 40,125,718 (GRCm39) |
D166E |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,706,237 (GRCm39) |
|
probably benign |
Het |
| Inpp5b |
A |
G |
4: 124,679,047 (GRCm39) |
T485A |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,709,848 (GRCm39) |
|
probably null |
Het |
| Lig3 |
T |
C |
11: 82,680,548 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,166,696 (GRCm39) |
Y1047* |
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,025,853 (GRCm39) |
E281G |
possibly damaging |
Het |
| Mmel1 |
A |
G |
4: 154,975,311 (GRCm39) |
T431A |
possibly damaging |
Het |
| Myh10 |
T |
C |
11: 68,590,239 (GRCm39) |
V58A |
probably benign |
Het |
| Myo1e |
A |
T |
9: 70,194,231 (GRCm39) |
H14L |
possibly damaging |
Het |
| Myo1g |
C |
T |
11: 6,462,181 (GRCm39) |
V594M |
probably damaging |
Het |
| Nr4a2 |
G |
A |
2: 57,000,778 (GRCm39) |
R226C |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,361,202 (GRCm39) |
L21P |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,414,817 (GRCm39) |
D89G |
possibly damaging |
Het |
| Pate12 |
T |
G |
9: 36,344,132 (GRCm39) |
S38R |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,320,118 (GRCm39) |
I1371N |
probably damaging |
Het |
| Pramel29 |
A |
G |
4: 143,934,821 (GRCm39) |
|
probably null |
Het |
| Proser3 |
G |
A |
7: 30,243,034 (GRCm39) |
A181V |
probably damaging |
Het |
| Pudp |
A |
T |
18: 50,701,472 (GRCm39) |
L87Q |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,008,163 (GRCm39) |
S559P |
probably damaging |
Het |
| Slc22a16 |
A |
G |
10: 40,449,756 (GRCm39) |
H85R |
probably benign |
Het |
| Spata32 |
T |
C |
11: 103,101,588 (GRCm39) |
D15G |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,239,886 (GRCm39) |
A1899V |
unknown |
Het |
| Tomm40 |
C |
T |
7: 19,435,759 (GRCm39) |
V324M |
probably damaging |
Het |
| Trgv7 |
C |
A |
13: 19,362,211 (GRCm39) |
|
probably benign |
Het |
| Ttll4 |
C |
T |
1: 74,719,567 (GRCm39) |
P25S |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,869,446 (GRCm39) |
C2650F |
probably damaging |
Het |
| Wdr83os |
T |
C |
8: 85,807,870 (GRCm39) |
L40P |
probably damaging |
Het |
| Zfp977 |
T |
C |
7: 42,232,072 (GRCm39) |
R64G |
probably damaging |
Het |
|
| Other mutations in Dpy19l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Dpy19l3
|
APN |
7 |
35,392,192 (GRCm39) |
splice site |
probably benign |
|
|
IGL01351:Dpy19l3
|
APN |
7 |
35,426,840 (GRCm39) |
splice site |
probably benign |
|
|
IGL01622:Dpy19l3
|
APN |
7 |
35,422,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01623:Dpy19l3
|
APN |
7 |
35,422,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01645:Dpy19l3
|
APN |
7 |
35,394,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02725:Dpy19l3
|
APN |
7 |
35,411,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02817:Dpy19l3
|
APN |
7 |
35,392,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Dpy19l3
|
APN |
7 |
35,452,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03374:Dpy19l3
|
APN |
7 |
35,411,633 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0143:Dpy19l3
|
UTSW |
7 |
35,413,640 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0164:Dpy19l3
|
UTSW |
7 |
35,416,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0164:Dpy19l3
|
UTSW |
7 |
35,416,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0385:Dpy19l3
|
UTSW |
7 |
35,452,130 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0705:Dpy19l3
|
UTSW |
7 |
35,394,741 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1489:Dpy19l3
|
UTSW |
7 |
35,424,835 (GRCm39) |
nonsense |
probably null |
|
|
R1640:Dpy19l3
|
UTSW |
7 |
35,449,203 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1782:Dpy19l3
|
UTSW |
7 |
35,407,580 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1843:Dpy19l3
|
UTSW |
7 |
35,429,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2096:Dpy19l3
|
UTSW |
7 |
35,426,713 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3814:Dpy19l3
|
UTSW |
7 |
35,426,717 (GRCm39) |
nonsense |
probably null |
|
|
R4438:Dpy19l3
|
UTSW |
7 |
35,392,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4537:Dpy19l3
|
UTSW |
7 |
35,411,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4735:Dpy19l3
|
UTSW |
7 |
35,422,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4737:Dpy19l3
|
UTSW |
7 |
35,402,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Dpy19l3
|
UTSW |
7 |
35,411,607 (GRCm39) |
nonsense |
probably null |
|
|
R4915:Dpy19l3
|
UTSW |
7 |
35,452,167 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4920:Dpy19l3
|
UTSW |
7 |
35,407,467 (GRCm39) |
intron |
probably benign |
|
|
R5300:Dpy19l3
|
UTSW |
7 |
35,426,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5527:Dpy19l3
|
UTSW |
7 |
35,413,555 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5801:Dpy19l3
|
UTSW |
7 |
35,424,723 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6815:Dpy19l3
|
UTSW |
7 |
35,449,272 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7150:Dpy19l3
|
UTSW |
7 |
35,408,055 (GRCm39) |
missense |
probably benign |
|
|
R7198:Dpy19l3
|
UTSW |
7 |
35,449,190 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7378:Dpy19l3
|
UTSW |
7 |
35,452,067 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7625:Dpy19l3
|
UTSW |
7 |
35,452,106 (GRCm39) |
missense |
probably benign |
|
|
R7641:Dpy19l3
|
UTSW |
7 |
35,394,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7674:Dpy19l3
|
UTSW |
7 |
35,394,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8034:Dpy19l3
|
UTSW |
7 |
35,449,281 (GRCm39) |
missense |
probably benign |
|
|
R8073:Dpy19l3
|
UTSW |
7 |
35,429,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Dpy19l3
|
UTSW |
7 |
35,394,814 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8206:Dpy19l3
|
UTSW |
7 |
35,429,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9299:Dpy19l3
|
UTSW |
7 |
35,424,752 (GRCm39) |
nonsense |
probably null |
|
|
R9765:Dpy19l3
|
UTSW |
7 |
35,408,056 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation