Incidental Mutation 'IGL02817:Dpy19l3'
| ID |
360838 |
| 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 # |
IGL02817
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
35384925-35453879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35392233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 653
(L653P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051377]
[ENSMUST00000143590]
|
| AlphaFold |
Q71B07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051377
AA Change: L653P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: L653P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
55 |
712 |
2.2e-243 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143590
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI182371 |
A |
G |
2: 34,990,661 (GRCm39) |
V12A |
probably damaging |
Het |
| Ash1l |
C |
A |
3: 88,892,108 (GRCm39) |
P1329H |
probably damaging |
Het |
| Bpifb3 |
T |
C |
2: 153,761,566 (GRCm39) |
V5A |
unknown |
Het |
| Cep350 |
A |
G |
1: 155,804,588 (GRCm39) |
S832P |
probably damaging |
Het |
| Chd1 |
A |
T |
17: 15,969,762 (GRCm39) |
H947L |
possibly damaging |
Het |
| Clec4b1 |
A |
T |
6: 123,045,444 (GRCm39) |
H88L |
possibly damaging |
Het |
| Col4a1 |
A |
G |
8: 11,270,259 (GRCm39) |
L859P |
probably damaging |
Het |
| Cyp2f2 |
T |
A |
7: 26,828,740 (GRCm39) |
N203K |
probably damaging |
Het |
| Dgka |
G |
A |
10: 128,566,097 (GRCm39) |
T351I |
probably benign |
Het |
| Dmc1 |
G |
A |
15: 79,472,964 (GRCm39) |
T161I |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,887,269 (GRCm39) |
N688D |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,275,062 (GRCm39) |
E341G |
probably benign |
Het |
| Fcrl5 |
T |
G |
3: 87,343,220 (GRCm39) |
V10G |
probably benign |
Het |
| Fgfr4 |
T |
C |
13: 55,304,481 (GRCm39) |
|
probably null |
Het |
| Gli2 |
T |
C |
1: 118,764,101 (GRCm39) |
H1350R |
possibly damaging |
Het |
| Gm3248 |
A |
G |
14: 5,945,825 (GRCm38) |
S30P |
probably benign |
Het |
| Grik4 |
T |
C |
9: 42,534,235 (GRCm39) |
N349S |
probably benign |
Het |
| Ifnar2 |
G |
T |
16: 91,184,880 (GRCm39) |
K90N |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,496,968 (GRCm39) |
I547N |
probably damaging |
Het |
| L3mbtl4 |
A |
T |
17: 68,937,249 (GRCm39) |
E423D |
probably benign |
Het |
| Mapkap1 |
T |
C |
2: 34,453,130 (GRCm39) |
L341P |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 118,000,251 (GRCm39) |
Q618R |
possibly damaging |
Het |
| Medag |
A |
T |
5: 149,350,503 (GRCm39) |
R51* |
probably null |
Het |
| Myo1f |
G |
A |
17: 33,823,532 (GRCm39) |
R1020K |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,202,816 (GRCm39) |
N153D |
probably benign |
Het |
| Naf1 |
T |
C |
8: 67,336,177 (GRCm39) |
I368T |
probably damaging |
Het |
| Nalf1 |
A |
T |
8: 9,257,994 (GRCm39) |
C385S |
probably damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,147,877 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
T |
A |
2: 151,342,651 (GRCm39) |
S74T |
probably damaging |
Het |
| Or2a51 |
A |
T |
6: 43,178,993 (GRCm39) |
R138S |
probably benign |
Het |
| Or6c68 |
A |
G |
10: 129,157,764 (GRCm39) |
T91A |
probably benign |
Het |
| Or8h7 |
T |
C |
2: 86,720,937 (GRCm39) |
N194S |
probably benign |
Het |
| Ptgfrn |
T |
A |
3: 100,968,068 (GRCm39) |
E508D |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,674,968 (GRCm39) |
|
probably null |
Het |
| Snx27 |
A |
G |
3: 94,410,770 (GRCm39) |
L460P |
probably damaging |
Het |
| Sp4 |
G |
T |
12: 118,263,287 (GRCm39) |
T253K |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,902,967 (GRCm39) |
I165V |
probably benign |
Het |
| Txnl4b |
A |
G |
8: 110,299,478 (GRCm39) |
Y146C |
probably damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,822,518 (GRCm39) |
M17T |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,993,406 (GRCm39) |
I567V |
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 |
|
IGL03130:Dpy19l3
|
APN |
7 |
35,452,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03178:Dpy19l3
|
APN |
7 |
35,429,154 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2015-12-18 |
Incidental Mutation