Incidental Mutation 'R4438:Dpy19l3'
ID |
329626 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpy19l3
|
Ensembl Gene |
ENSMUSG00000043671 |
Gene Name |
dpy-19 like C-mannosyltransferase 3 |
Synonyms |
9330164H19Rik |
MMRRC Submission |
041703-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R4438 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
35384925-35453879 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35392284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 636
(I636T)
|
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: I636T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000054747 Gene: ENSMUSG00000043671 AA Change: I636T
Domain | Start | End | E-Value | Type |
Pfam:Dpy19
|
55 |
712 |
2.2e-243 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143590
|
Meta Mutation Damage Score |
0.8714 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1 |
T |
A |
2: 58,367,739 (GRCm39) |
I141F |
probably benign |
Het |
Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
Adck1 |
C |
T |
12: 88,397,920 (GRCm39) |
Q185* |
probably null |
Het |
Adgrb3 |
T |
C |
1: 25,870,108 (GRCm39) |
|
probably benign |
Het |
Als2cl |
T |
C |
9: 110,714,466 (GRCm39) |
S105P |
probably damaging |
Het |
Asns |
C |
A |
6: 7,675,320 (GRCm39) |
A561S |
probably benign |
Het |
Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
Bst1 |
A |
T |
5: 43,982,682 (GRCm39) |
|
probably null |
Het |
Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,763,191 (GRCm39) |
T1215I |
possibly damaging |
Het |
Csnk1e |
A |
T |
15: 79,305,129 (GRCm39) |
S323T |
probably benign |
Het |
Cyp2j7 |
G |
T |
4: 96,105,646 (GRCm39) |
T288K |
probably benign |
Het |
Dnaaf5 |
T |
A |
5: 139,149,147 (GRCm39) |
I482N |
probably damaging |
Het |
Enpep |
T |
G |
3: 129,077,740 (GRCm39) |
T626P |
possibly damaging |
Het |
Fgfr2 |
G |
A |
7: 129,774,660 (GRCm39) |
R509* |
probably null |
Het |
Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
Gpr83 |
T |
C |
9: 14,776,134 (GRCm39) |
Y152H |
probably damaging |
Het |
Hdac7 |
T |
C |
15: 97,705,596 (GRCm39) |
E400G |
probably damaging |
Het |
Hypk |
A |
T |
2: 121,288,475 (GRCm39) |
E82V |
probably damaging |
Het |
Iqub |
C |
A |
6: 24,505,867 (GRCm39) |
A14S |
probably benign |
Het |
Lias |
T |
C |
5: 65,552,787 (GRCm39) |
M130T |
probably damaging |
Het |
Lingo4 |
T |
C |
3: 94,310,204 (GRCm39) |
S381P |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,704,635 (GRCm39) |
T1536A |
probably damaging |
Het |
Moxd2 |
T |
A |
6: 40,860,996 (GRCm39) |
D265V |
probably damaging |
Het |
Mtbp |
C |
A |
15: 55,466,611 (GRCm39) |
S541R |
probably benign |
Het |
Or10j27 |
C |
A |
1: 172,957,869 (GRCm39) |
C305F |
probably benign |
Het |
Or2a54 |
T |
C |
6: 43,093,221 (GRCm39) |
S182P |
probably benign |
Het |
Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
Pcsk9 |
G |
T |
4: 106,316,156 (GRCm39) |
Q96K |
probably benign |
Het |
Pramel14 |
T |
C |
4: 143,718,192 (GRCm39) |
Y417C |
probably damaging |
Het |
Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
Setd1a |
A |
G |
7: 127,384,903 (GRCm39) |
N585D |
possibly damaging |
Het |
Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,650,637 (GRCm39) |
|
probably benign |
Het |
Snx19 |
G |
T |
9: 30,339,895 (GRCm39) |
L344F |
probably benign |
Het |
Srfbp1 |
T |
C |
18: 52,621,403 (GRCm39) |
C155R |
probably benign |
Het |
Sspo |
C |
T |
6: 48,464,287 (GRCm39) |
R3914C |
probably damaging |
Het |
Tacc2 |
G |
A |
7: 130,225,271 (GRCm39) |
S652N |
probably damaging |
Het |
Tmub1 |
A |
C |
5: 24,651,068 (GRCm39) |
L197R |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,926,066 (GRCm39) |
T905A |
possibly damaging |
Het |
Tnfrsf21 |
G |
T |
17: 43,398,733 (GRCm39) |
R613L |
possibly damaging |
Het |
Ugt3a1 |
A |
T |
15: 9,351,283 (GRCm39) |
E97D |
probably benign |
Het |
Vmn2r25 |
A |
G |
6: 123,816,756 (GRCm39) |
I275T |
probably benign |
Het |
Zfp1010 |
T |
G |
2: 176,956,889 (GRCm39) |
Q203P |
possibly damaging |
Het |
Zfp568 |
G |
T |
7: 29,721,721 (GRCm39) |
C221F |
probably benign |
Het |
Zfp91 |
C |
A |
19: 12,755,385 (GRCm39) |
E217* |
probably null |
Het |
Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
|
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'- GCAGGACCTCTACAAATGTCTG -3'
(R):5'- CAAGTCCTTTTGGCATCTAAGC -3'
Sequencing Primer
(F):5'- CAGGACCTCTACAAATGTCTGACTTG -3'
(R):5'- CCTTTTGGCATCTAAGCTAGATATG -3'
|
Posted On |
2015-07-21 |