Incidental Mutation 'R8034:Dpy19l3'
| ID |
618130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l3
|
| Ensembl Gene |
ENSMUSG00000043671 |
| Gene Name |
dpy-19 like C-mannosyltransferase 3 |
| Synonyms |
9330164H19Rik |
| MMRRC Submission |
067471-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R8034 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35384925-35453879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35449281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 41
(F41L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051377]
|
| AlphaFold |
Q71B07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051377
AA Change: F41L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: F41L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
55 |
712 |
2.2e-243 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
A |
G |
7: 101,043,980 (GRCm39) |
T680A |
probably damaging |
Het |
| Asb3 |
C |
A |
11: 31,031,554 (GRCm39) |
Y391* |
probably null |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccdc80 |
A |
G |
16: 44,943,238 (GRCm39) |
I783V |
probably damaging |
Het |
| Ccnf |
A |
G |
17: 24,450,805 (GRCm39) |
V391A |
probably damaging |
Het |
| Cd5l |
C |
A |
3: 87,273,271 (GRCm39) |
A80E |
possibly damaging |
Het |
| Chmp2b |
A |
T |
16: 65,343,769 (GRCm39) |
M96K |
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,479,045 (GRCm39) |
I1530F |
|
Het |
| Dennd4a |
T |
C |
9: 64,795,850 (GRCm39) |
S725P |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,106,208 (GRCm39) |
N1843S |
probably damaging |
Het |
| Eif3e |
A |
T |
15: 43,135,703 (GRCm39) |
M112K |
probably benign |
Het |
| Faim |
T |
C |
9: 98,874,786 (GRCm39) |
V111A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,404,728 (GRCm39) |
E493G |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,819,699 (GRCm39) |
D5144G |
possibly damaging |
Het |
| Fuz |
T |
C |
7: 44,545,684 (GRCm39) |
M1T |
probably null |
Het |
| Ggcx |
T |
C |
6: 72,405,587 (GRCm39) |
V529A |
possibly damaging |
Het |
| Gm7145 |
A |
T |
1: 117,913,894 (GRCm39) |
T259S |
probably benign |
Het |
| Gria2 |
T |
G |
3: 80,709,006 (GRCm39) |
T59P |
probably damaging |
Het |
| H2-Q10 |
A |
T |
17: 35,781,338 (GRCm39) |
I47F |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,644,735 (GRCm39) |
N63D |
probably benign |
Het |
| Ints7 |
CCGGATCG |
CCGGATCGGATCG |
1: 191,345,180 (GRCm39) |
|
probably null |
Het |
| Ints7 |
GATCG |
GATCGTATCG |
1: 191,345,183 (GRCm39) |
|
probably null |
Het |
| Lcn6 |
T |
A |
2: 25,566,883 (GRCm39) |
L19* |
probably null |
Het |
| Lhcgr |
T |
C |
17: 89,049,784 (GRCm39) |
T581A |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,687,573 (GRCm39) |
I203T |
probably damaging |
Het |
| Mctp1 |
G |
C |
13: 77,039,670 (GRCm39) |
L783F |
probably damaging |
Het |
| Mlf1 |
A |
T |
3: 67,291,921 (GRCm39) |
M29L |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 53,687,312 (GRCm39) |
I159N |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,794,930 (GRCm39) |
|
probably null |
Het |
| Or4a39 |
A |
G |
2: 89,237,081 (GRCm39) |
V114A |
probably benign |
Het |
| Or4m1 |
T |
C |
14: 50,558,023 (GRCm39) |
K90E |
probably damaging |
Het |
| Or51h5 |
A |
T |
7: 102,577,773 (GRCm39) |
K313* |
probably null |
Het |
| Or5b110-ps1 |
A |
G |
19: 13,260,215 (GRCm39) |
F69S |
probably damaging |
Het |
| Or7d11 |
A |
G |
9: 19,966,301 (GRCm39) |
F35L |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,054,973 (GRCm39) |
Y176H |
probably damaging |
Het |
| Otud3 |
T |
C |
4: 138,623,111 (GRCm39) |
S377G |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,571,214 (GRCm39) |
S200T |
probably damaging |
Het |
| Pex6 |
G |
C |
17: 47,033,325 (GRCm39) |
G616A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,451,662 (GRCm39) |
H2211L |
possibly damaging |
Het |
| Sec13 |
T |
C |
6: 113,712,050 (GRCm39) |
K95R |
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,932,480 (GRCm39) |
V661A |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
| Sp140l2 |
T |
A |
1: 85,231,881 (GRCm39) |
T180S |
probably benign |
Het |
| Sprr2h |
A |
T |
3: 92,294,120 (GRCm39) |
E61V |
unknown |
Het |
| Tead3 |
A |
C |
17: 28,552,203 (GRCm39) |
V365G |
probably damaging |
Het |
| Trpm7 |
T |
A |
2: 126,688,119 (GRCm39) |
N236I |
probably damaging |
Het |
| Ubxn2b |
A |
G |
4: 6,191,167 (GRCm39) |
E13G |
probably benign |
Het |
| Zfp639 |
C |
A |
3: 32,574,215 (GRCm39) |
A280E |
probably 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 |
|
|
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 |
|
|
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 |
|
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'- TCAGCTACCGGGGAAACAAATG -3'
(R):5'- GCGCATGTCTTCTGATTTATGC -3'
Sequencing Primer
(F):5'- CTACCGGGGAAACAAATGAGTTGATC -3'
(R):5'- TGTGTAGGTTGTACAAATGAGCACC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation