Incidental Mutation 'R5300:Dpy19l3'
| ID |
405601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l3
|
| Ensembl Gene |
ENSMUSG00000043671 |
| Gene Name |
dpy-19 like C-mannosyltransferase 3 |
| Synonyms |
9330164H19Rik |
| MMRRC Submission |
042883-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R5300 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35384925-35453879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35426735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 58
(Y58H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051377]
[ENSMUST00000144416]
|
| AlphaFold |
Q71B07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051377
AA Change: Y144H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: Y144H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
55 |
712 |
2.2e-243 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127782
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144416
AA Change: Y58H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122489
Gene: ENSMUSG00000043671
AA Change: Y58H
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
A |
G |
8: 23,622,517 (GRCm39) |
K1644E |
probably benign |
Het |
| C7 |
C |
A |
15: 5,061,432 (GRCm39) |
G306W |
probably damaging |
Het |
| Ccdc185 |
A |
G |
1: 182,575,645 (GRCm39) |
V348A |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 47,929,595 (GRCm39) |
I19F |
probably benign |
Het |
| Dnaaf2 |
C |
G |
12: 69,245,002 (GRCm39) |
V20L |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,227,917 (GRCm39) |
S480G |
probably damaging |
Het |
| Eno4 |
G |
A |
19: 58,943,982 (GRCm39) |
|
probably null |
Het |
| Gm136 |
T |
G |
4: 34,750,930 (GRCm39) |
K114N |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,347,784 (GRCm39) |
L2970F |
unknown |
Het |
| Ly86 |
C |
T |
13: 37,602,588 (GRCm39) |
T160I |
probably benign |
Het |
| Mfsd4b1 |
A |
C |
10: 39,879,027 (GRCm39) |
F290C |
probably benign |
Het |
| Minar1 |
A |
T |
9: 89,485,252 (GRCm39) |
S48R |
probably damaging |
Het |
| Nbeal1 |
T |
G |
1: 60,274,718 (GRCm39) |
Y376* |
probably null |
Het |
| Nipbl |
A |
T |
15: 8,380,981 (GRCm39) |
S604T |
probably benign |
Het |
| Pml |
A |
C |
9: 58,154,302 (GRCm39) |
N190K |
probably damaging |
Het |
| Rin3 |
C |
A |
12: 102,335,929 (GRCm39) |
F533L |
probably benign |
Het |
| Scamp1 |
A |
G |
13: 94,340,670 (GRCm39) |
V233A |
probably damaging |
Het |
| Sppl2c |
A |
T |
11: 104,077,901 (GRCm39) |
N234Y |
possibly damaging |
Het |
| Tfap2b |
A |
G |
1: 19,298,677 (GRCm39) |
K278R |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,550,704 (GRCm39) |
Y278C |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,071,978 (GRCm39) |
E215G |
probably damaging |
Het |
| Tssk6 |
T |
C |
8: 70,355,285 (GRCm39) |
S110P |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,974 (GRCm39) |
L153Q |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
| Zfp667 |
A |
G |
7: 6,307,635 (GRCm39) |
H101R |
probably benign |
Het |
| Zfp772 |
A |
T |
7: 7,207,157 (GRCm39) |
M178K |
probably benign |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGCTCTAGACTGCATGC -3'
(R):5'- CACTCTGACTGGAATGCTAGAG -3'
Sequencing Primer
(F):5'- GCTCTAGACTGCATGCATAATTATG -3'
(R):5'- CTAGAGCAGTGTGTCGTGCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation