Incidental Mutation 'IGL03374:Dpy19l3'
| ID |
420424 |
| 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 # |
IGL03374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
35384925-35453879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35411633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 367
(N367S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051377]
[ENSMUST00000143590]
[ENSMUST00000144416]
|
| AlphaFold |
Q71B07 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051377
AA Change: N367S
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: N367S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
55 |
712 |
2.2e-243 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143590
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144416
|
| SMART Domains |
Protein: ENSMUSP00000122489
Gene: ENSMUSG00000043671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
1 |
114 |
2.5e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150862
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206004
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
G |
A |
1: 58,211,007 (GRCm39) |
R917Q |
probably damaging |
Het |
| Atl1 |
T |
C |
12: 70,002,141 (GRCm39) |
Y367H |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,511,062 (GRCm39) |
E175G |
possibly damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,561,821 (GRCm39) |
D800E |
probably damaging |
Het |
| Cdon |
T |
A |
9: 35,389,299 (GRCm39) |
F801L |
possibly damaging |
Het |
| Dcaf13 |
C |
T |
15: 39,008,543 (GRCm39) |
Q382* |
probably null |
Het |
| F11 |
A |
G |
8: 45,714,111 (GRCm39) |
S3P |
possibly damaging |
Het |
| Fhip1b |
T |
C |
7: 105,033,158 (GRCm39) |
E57G |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,267,624 (GRCm39) |
|
probably benign |
Het |
| Gcnt3 |
A |
T |
9: 69,941,695 (GRCm39) |
M291K |
possibly damaging |
Het |
| Glg1 |
T |
C |
8: 111,889,412 (GRCm39) |
D927G |
probably damaging |
Het |
| Gm5862 |
C |
A |
5: 26,224,510 (GRCm39) |
R153L |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,742,628 (GRCm39) |
T237A |
probably benign |
Het |
| Helz |
A |
T |
11: 107,510,973 (GRCm39) |
I610F |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,310,108 (GRCm39) |
E372G |
probably damaging |
Het |
| Hsd17b13 |
A |
G |
5: 104,124,964 (GRCm39) |
|
probably benign |
Het |
| Klhl32 |
G |
A |
4: 24,649,533 (GRCm39) |
|
probably benign |
Het |
| Krt74 |
T |
A |
15: 101,668,937 (GRCm39) |
|
noncoding transcript |
Het |
| Nopchap1 |
G |
A |
10: 83,201,571 (GRCm39) |
V115M |
probably damaging |
Het |
| Or14a258 |
T |
A |
7: 86,035,574 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or9g4b |
T |
C |
2: 85,616,053 (GRCm39) |
L66P |
probably damaging |
Het |
| Phyhipl |
A |
G |
10: 70,401,109 (GRCm39) |
V163A |
possibly damaging |
Het |
| Pknox2 |
T |
A |
9: 36,834,966 (GRCm39) |
T168S |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,269,046 (GRCm39) |
|
probably benign |
Het |
| Sgce |
G |
A |
6: 4,689,718 (GRCm39) |
R372* |
probably null |
Het |
| Stard5 |
T |
C |
7: 83,285,980 (GRCm39) |
S102P |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,121,360 (GRCm39) |
K5941R |
possibly damaging |
Het |
| Tas2r124 |
A |
T |
6: 132,732,081 (GRCm39) |
H130L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,546,027 (GRCm39) |
E32462G |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,415,974 (GRCm39) |
S1647P |
probably damaging |
Het |
| Ube2d3 |
A |
G |
3: 135,165,844 (GRCm39) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 144,835,145 (GRCm39) |
H1561Q |
possibly 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 |
|
IGL03178:Dpy19l3
|
APN |
7 |
35,429,154 (GRCm39) |
nonsense |
probably null |
|
|
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