Incidental Mutation 'R3814:Dpy19l3'
ID |
274190 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpy19l3
|
Ensembl Gene |
ENSMUSG00000043671 |
Gene Name |
dpy-19 like C-mannosyltransferase 3 |
Synonyms |
9330164H19Rik |
MMRRC Submission |
040769-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R3814 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
35384925-35453879 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 35426717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 64
(Q64*)
|
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: Q150*
|
SMART Domains |
Protein: ENSMUSP00000054747 Gene: ENSMUSG00000043671 AA Change: Q150*
Domain | Start | End | E-Value | Type |
Pfam:Dpy19
|
55 |
712 |
2.2e-243 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127782
|
Predicted Effect |
probably null
Transcript: ENSMUST00000144416
AA Change: Q64*
|
SMART Domains |
Protein: ENSMUSP00000122489 Gene: ENSMUSG00000043671 AA Change: Q64*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
C |
7: 40,642,343 (GRCm39) |
V4A |
probably damaging |
Het |
Abca4 |
C |
T |
3: 121,964,570 (GRCm39) |
|
probably benign |
Het |
Adam20 |
G |
T |
8: 41,248,712 (GRCm39) |
W274L |
probably damaging |
Het |
Cep78 |
T |
C |
19: 15,959,166 (GRCm39) |
|
probably null |
Het |
Clhc1 |
T |
C |
11: 29,521,826 (GRCm39) |
I453T |
possibly damaging |
Het |
Cyp2c55 |
T |
A |
19: 38,995,509 (GRCm39) |
L7Q |
probably damaging |
Het |
Dnah2 |
A |
G |
11: 69,383,476 (GRCm39) |
|
probably null |
Het |
Enthd1 |
T |
A |
15: 80,336,883 (GRCm39) |
Y517F |
probably benign |
Het |
Fndc1 |
T |
C |
17: 7,992,154 (GRCm39) |
H514R |
unknown |
Het |
G2e3 |
C |
T |
12: 51,400,444 (GRCm39) |
T32I |
probably benign |
Het |
Glb1l2 |
A |
G |
9: 26,682,330 (GRCm39) |
S302P |
probably benign |
Het |
Ino80d |
C |
T |
1: 63,113,583 (GRCm39) |
R289Q |
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,649,809 (GRCm39) |
L161P |
possibly damaging |
Het |
Kif19a |
A |
G |
11: 114,672,745 (GRCm39) |
Y256C |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,051,972 (GRCm39) |
E260G |
probably damaging |
Het |
Map3k5 |
T |
C |
10: 19,901,936 (GRCm39) |
S328P |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 20,016,426 (GRCm39) |
V1339D |
probably damaging |
Het |
Mib1 |
G |
A |
18: 10,763,281 (GRCm39) |
V444M |
probably benign |
Het |
Mon2 |
T |
C |
10: 122,849,470 (GRCm39) |
I1277V |
probably damaging |
Het |
Mvp |
T |
A |
7: 126,586,801 (GRCm39) |
M777L |
probably benign |
Het |
Pik3c2a |
G |
A |
7: 115,947,414 (GRCm39) |
R1423W |
probably damaging |
Het |
Prdm16 |
T |
C |
4: 154,412,750 (GRCm39) |
E1085G |
probably damaging |
Het |
Prune1 |
A |
C |
3: 95,172,750 (GRCm39) |
V105G |
probably damaging |
Het |
Rbpj |
G |
T |
5: 53,810,514 (GRCm39) |
E399* |
probably null |
Het |
Rp1 |
C |
A |
1: 4,419,931 (GRCm39) |
V394L |
probably benign |
Het |
S100a4 |
G |
A |
3: 90,513,152 (GRCm39) |
A83T |
probably benign |
Het |
Satb1 |
T |
C |
17: 52,089,935 (GRCm39) |
H304R |
probably damaging |
Het |
Slc6a17 |
T |
C |
3: 107,378,633 (GRCm39) |
E680G |
possibly damaging |
Het |
Tbc1d4 |
A |
T |
14: 101,696,191 (GRCm39) |
I919N |
possibly damaging |
Het |
Vmn2r102 |
A |
T |
17: 19,899,093 (GRCm39) |
K478N |
probably damaging |
Het |
Zfp619 |
A |
C |
7: 39,184,823 (GRCm39) |
R284S |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCAAGCTCTAGACTGCATGC -3'
(R):5'- GAGTATACACTGGTTGTCATTCAC -3'
Sequencing Primer
(F):5'- GCTCTAGACTGCATGCATAATTATG -3'
(R):5'- ATACACTGGTTGTCATTCACTCTTGG -3'
|
Posted On |
2015-04-02 |