Incidental Mutation 'R2096:Dpy19l3'
| ID |
232108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l3
|
| Ensembl Gene |
ENSMUSG00000043671 |
| Gene Name |
dpy-19 like C-mannosyltransferase 3 |
| Synonyms |
9330164H19Rik |
| MMRRC Submission |
040100-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R2096 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35384925-35453879 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 35426713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051377]
[ENSMUST00000144416]
|
| AlphaFold |
Q71B07 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000051377
|
| SMART Domains |
Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
| 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: 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: ENSMUST00000155451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205751
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
G |
8: 124,709,195 (GRCm39) |
S120P |
probably benign |
Het |
| Actr3b |
T |
A |
5: 26,036,743 (GRCm39) |
Y185* |
probably null |
Het |
| Atg101 |
T |
A |
15: 101,188,382 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Btf3 |
T |
A |
13: 98,449,659 (GRCm39) |
Q109L |
possibly damaging |
Het |
| Camk2d |
G |
A |
3: 126,574,091 (GRCm39) |
G166D |
probably damaging |
Het |
| Capn7 |
T |
G |
14: 31,071,844 (GRCm39) |
|
probably null |
Het |
| Cd209f |
A |
G |
8: 4,155,537 (GRCm39) |
V17A |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,656 (GRCm39) |
V2208A |
possibly damaging |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Comp |
T |
C |
8: 70,828,713 (GRCm39) |
C182R |
probably damaging |
Het |
| Ctsl |
A |
G |
13: 64,516,840 (GRCm39) |
|
probably null |
Het |
| Cyp3a44 |
G |
T |
5: 145,725,215 (GRCm39) |
Q329K |
probably damaging |
Het |
| Dcpp1 |
A |
T |
17: 24,099,971 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
A |
G |
8: 110,280,891 (GRCm39) |
V831A |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,791,858 (GRCm39) |
M22T |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,346,742 (GRCm39) |
E2615K |
probably damaging |
Het |
| Gm12888 |
T |
G |
4: 121,176,655 (GRCm39) |
I49L |
probably benign |
Het |
| Insyn2b |
C |
A |
11: 34,352,936 (GRCm39) |
S326Y |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,815,252 (GRCm39) |
M194K |
probably damaging |
Het |
| Mael |
G |
T |
1: 166,053,244 (GRCm39) |
Q254K |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,361,322 (GRCm39) |
D461G |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,281,825 (GRCm39) |
N819S |
probably benign |
Het |
| Ntng1 |
T |
A |
3: 109,739,871 (GRCm39) |
N390Y |
probably damaging |
Het |
| Or5g25 |
A |
G |
2: 85,478,434 (GRCm39) |
I77T |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,022,738 (GRCm39) |
V250I |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,485,987 (GRCm39) |
D1870E |
probably benign |
Het |
| Phf2 |
T |
A |
13: 48,985,589 (GRCm39) |
K64* |
probably null |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Ppa2 |
A |
G |
3: 133,032,445 (GRCm39) |
T97A |
probably damaging |
Het |
| Psd |
G |
A |
19: 46,313,088 (GRCm39) |
|
probably null |
Het |
| Psg23 |
T |
A |
7: 18,348,668 (GRCm39) |
E46D |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rab11b |
A |
G |
17: 33,967,976 (GRCm39) |
Y74H |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,568,383 (GRCm39) |
S194R |
probably benign |
Het |
| Sema4d |
A |
T |
13: 51,864,037 (GRCm39) |
I414N |
probably damaging |
Het |
| Serpinb1a |
A |
T |
13: 33,031,437 (GRCm39) |
D120E |
probably damaging |
Het |
| Snai2 |
T |
A |
16: 14,524,861 (GRCm39) |
H122Q |
possibly damaging |
Het |
| Spats2l |
T |
C |
1: 57,985,458 (GRCm39) |
S504P |
probably benign |
Het |
| Sprr2j-ps |
T |
C |
3: 92,326,412 (GRCm39) |
S96P |
unknown |
Het |
| Sspo |
G |
T |
6: 48,438,608 (GRCm39) |
V1559L |
probably benign |
Het |
| Tas2r118 |
T |
G |
6: 23,969,912 (GRCm39) |
I50L |
possibly damaging |
Het |
| Tdrd3 |
C |
T |
14: 87,743,788 (GRCm39) |
Q573* |
probably null |
Het |
| Thoc2l |
T |
C |
5: 104,667,835 (GRCm39) |
S786P |
possibly damaging |
Het |
| Tlnrd1 |
G |
A |
7: 83,532,062 (GRCm39) |
T123I |
probably benign |
Het |
| Tmem214 |
T |
A |
5: 31,033,714 (GRCm39) |
L555H |
probably damaging |
Het |
| Tmprss12 |
T |
A |
15: 100,183,117 (GRCm39) |
M153K |
probably benign |
Het |
| Tmprss9 |
G |
A |
10: 80,725,268 (GRCm39) |
G410S |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,803,116 (GRCm39) |
M853K |
probably damaging |
Het |
| Vmn1r35 |
A |
G |
6: 66,655,929 (GRCm39) |
I247T |
possibly damaging |
Het |
| Zcchc7 |
C |
A |
4: 44,931,059 (GRCm39) |
P404T |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAAGCTCTAGACTGCATGC -3'
(R):5'- GAGGAGTATACACTGGTTGTCATTC -3'
Sequencing Primer
(F):5'- GCTCTAGACTGCATGCATAATTATG -3'
(R):5'- ATACACTGGTTGTCATTCACTCTTGG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation