Incidental Mutation 'R8095:Dpy19l1'
| ID |
647935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l1
|
| Ensembl Gene |
ENSMUSG00000043067 |
| Gene Name |
dpy-19 like C-mannosyltransferase 1 |
| Synonyms |
1100001I19Rik |
| MMRRC Submission |
067527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R8095 (G1)
|
| Quality Score |
123.008 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
24323074-24414436 bp(-) (GRCm39) |
| Type of Mutation |
splice site (150 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 24396160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115277]
[ENSMUST00000142064]
[ENSMUST00000170356]
|
| AlphaFold |
A6X919 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115277
|
| SMART Domains |
Protein: ENSMUSP00000110932
Gene: ENSMUSG00000043067
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
10 |
549 |
1.6e-212 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142064
|
| SMART Domains |
Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
69 |
N/A |
INTRINSIC |
|
Pfam:Dpy19
|
99 |
743 |
2e-247 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170356
|
| SMART Domains |
Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
69 |
N/A |
INTRINSIC |
|
Pfam:Dpy19
|
98 |
743 |
5.5e-264 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,536,196 (GRCm39) |
I490M |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,590,048 (GRCm39) |
I817V |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,888,565 (GRCm39) |
L945P |
probably damaging |
Het |
| Coa8 |
C |
A |
12: 111,689,218 (GRCm39) |
A100D |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,295,106 (GRCm39) |
T108A |
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,435,432 (GRCm39) |
K142M |
probably damaging |
Het |
| Cyp51 |
C |
T |
5: 4,136,490 (GRCm39) |
E435K |
probably benign |
Het |
| Dnah14 |
G |
T |
1: 181,633,597 (GRCm39) |
E11* |
probably null |
Het |
| Dym |
A |
G |
18: 75,247,872 (GRCm39) |
T259A |
possibly damaging |
Het |
| E030018B13Rik |
T |
G |
7: 63,569,049 (GRCm39) |
H32Q |
unknown |
Het |
| Ehmt2 |
T |
G |
17: 35,126,745 (GRCm39) |
H809Q |
probably damaging |
Het |
| Fabp6 |
G |
A |
11: 43,489,543 (GRCm39) |
R33C |
probably damaging |
Het |
| Fam98a |
C |
A |
17: 75,845,766 (GRCm39) |
D327Y |
probably damaging |
Het |
| Foxf1 |
C |
T |
8: 121,813,551 (GRCm39) |
T357I |
probably benign |
Het |
| Foxh1 |
T |
A |
15: 76,553,208 (GRCm39) |
R169* |
probably null |
Het |
| Hydin |
T |
C |
8: 111,295,991 (GRCm39) |
F3568S |
probably damaging |
Het |
| Il22 |
T |
C |
10: 118,041,028 (GRCm39) |
S45P |
possibly damaging |
Het |
| Isyna1 |
C |
A |
8: 71,049,035 (GRCm39) |
Y371* |
probably null |
Het |
| Lingo3 |
T |
C |
10: 80,671,255 (GRCm39) |
H225R |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,124,855 (GRCm39) |
V560E |
possibly damaging |
Het |
| Mab21l2 |
A |
G |
3: 86,454,769 (GRCm39) |
V77A |
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,848,131 (GRCm39) |
K595R |
probably benign |
Het |
| Mfsd2a |
A |
T |
4: 122,845,064 (GRCm39) |
C216S |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,496,126 (GRCm39) |
Y6688* |
probably null |
Het |
| Or12j5 |
T |
C |
7: 140,084,192 (GRCm39) |
Y60C |
probably damaging |
Het |
| Otud6b |
T |
C |
4: 14,825,614 (GRCm39) |
D72G |
probably damaging |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,924 (GRCm39) |
I211V |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,498,388 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
C |
2: 27,132,730 (GRCm39) |
Y166C |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,132,809 (GRCm39) |
K171N |
possibly damaging |
Het |
| Scyl2 |
G |
T |
10: 89,476,965 (GRCm39) |
T720K |
probably damaging |
Het |
| Slc9a8 |
T |
A |
2: 167,310,891 (GRCm39) |
V384D |
probably damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,933,415 (GRCm39) |
I457F |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,772,285 (GRCm39) |
Y1490C |
unknown |
Het |
| Snx16 |
A |
T |
3: 10,503,244 (GRCm39) |
M1K |
probably null |
Het |
| Sqle |
A |
G |
15: 59,193,276 (GRCm39) |
S218G |
probably benign |
Het |
| Strip1 |
A |
G |
3: 107,525,455 (GRCm39) |
I527T |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tnfsf13 |
A |
G |
11: 69,575,983 (GRCm39) |
C35R |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,087,735 (GRCm39) |
Y673C |
probably damaging |
Het |
| Ttc39b |
C |
T |
4: 83,164,557 (GRCm39) |
A252T |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,977 (GRCm39) |
L15H |
probably benign |
Het |
| Uspl1 |
C |
T |
5: 149,150,992 (GRCm39) |
Q731* |
probably null |
Het |
| Vmn1r193 |
T |
C |
13: 22,403,231 (GRCm39) |
R254G |
possibly damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp644 |
A |
C |
5: 106,766,280 (GRCm39) |
V1234G |
possibly damaging |
Het |
|
| Other mutations in Dpy19l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Dpy19l1
|
APN |
9 |
24,393,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00788:Dpy19l1
|
APN |
9 |
24,373,864 (GRCm39) |
splice site |
probably benign |
|
|
IGL00959:Dpy19l1
|
APN |
9 |
24,334,493 (GRCm39) |
splice site |
probably null |
|
|
IGL01646:Dpy19l1
|
APN |
9 |
24,396,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01647:Dpy19l1
|
APN |
9 |
24,396,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01713:Dpy19l1
|
APN |
9 |
24,396,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01715:Dpy19l1
|
APN |
9 |
24,396,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01743:Dpy19l1
|
APN |
9 |
24,396,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01912:Dpy19l1
|
APN |
9 |
24,396,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02417:Dpy19l1
|
APN |
9 |
24,386,682 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02629:Dpy19l1
|
APN |
9 |
24,350,009 (GRCm39) |
splice site |
probably benign |
|
|
IGL02677:Dpy19l1
|
APN |
9 |
24,396,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02949:Dpy19l1
|
APN |
9 |
24,332,476 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03067:Dpy19l1
|
APN |
9 |
24,349,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
G1Funyon:Dpy19l1
|
UTSW |
9 |
24,396,407 (GRCm39) |
splice site |
probably benign |
|
|
R0066:Dpy19l1
|
UTSW |
9 |
24,325,705 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0207:Dpy19l1
|
UTSW |
9 |
24,365,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Dpy19l1
|
UTSW |
9 |
24,325,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0544:Dpy19l1
|
UTSW |
9 |
24,396,406 (GRCm39) |
splice site |
probably benign |
|
|
R0749:Dpy19l1
|
UTSW |
9 |
24,373,880 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0838:Dpy19l1
|
UTSW |
9 |
24,343,727 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1114:Dpy19l1
|
UTSW |
9 |
24,336,072 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1546:Dpy19l1
|
UTSW |
9 |
24,386,680 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1767:Dpy19l1
|
UTSW |
9 |
24,373,880 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1926:Dpy19l1
|
UTSW |
9 |
24,385,120 (GRCm39) |
missense |
probably benign |
|
|
R1933:Dpy19l1
|
UTSW |
9 |
24,345,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2046:Dpy19l1
|
UTSW |
9 |
24,334,455 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2101:Dpy19l1
|
UTSW |
9 |
24,393,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4083:Dpy19l1
|
UTSW |
9 |
24,396,344 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4565:Dpy19l1
|
UTSW |
9 |
24,343,684 (GRCm39) |
missense |
probably null |
1.00 |
|
R4649:Dpy19l1
|
UTSW |
9 |
24,393,350 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4652:Dpy19l1
|
UTSW |
9 |
24,393,350 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4653:Dpy19l1
|
UTSW |
9 |
24,393,350 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4669:Dpy19l1
|
UTSW |
9 |
24,343,664 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4746:Dpy19l1
|
UTSW |
9 |
24,361,966 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4769:Dpy19l1
|
UTSW |
9 |
24,337,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4785:Dpy19l1
|
UTSW |
9 |
24,336,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Dpy19l1
|
UTSW |
9 |
24,349,924 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5466:Dpy19l1
|
UTSW |
9 |
24,325,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5707:Dpy19l1
|
UTSW |
9 |
24,325,563 (GRCm39) |
makesense |
probably null |
|
|
R6265:Dpy19l1
|
UTSW |
9 |
24,343,667 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6266:Dpy19l1
|
UTSW |
9 |
24,350,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6290:Dpy19l1
|
UTSW |
9 |
24,373,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6380:Dpy19l1
|
UTSW |
9 |
24,393,341 (GRCm39) |
nonsense |
probably null |
|
|
R6478:Dpy19l1
|
UTSW |
9 |
24,361,992 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6581:Dpy19l1
|
UTSW |
9 |
24,359,160 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6756:Dpy19l1
|
UTSW |
9 |
24,385,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6773:Dpy19l1
|
UTSW |
9 |
24,352,068 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6795:Dpy19l1
|
UTSW |
9 |
24,414,158 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6796:Dpy19l1
|
UTSW |
9 |
24,414,158 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7060:Dpy19l1
|
UTSW |
9 |
24,334,419 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7862:Dpy19l1
|
UTSW |
9 |
24,386,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7921:Dpy19l1
|
UTSW |
9 |
24,333,634 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8192:Dpy19l1
|
UTSW |
9 |
24,362,023 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8248:Dpy19l1
|
UTSW |
9 |
24,414,191 (GRCm39) |
missense |
probably benign |
|
|
R8296:Dpy19l1
|
UTSW |
9 |
24,414,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8301:Dpy19l1
|
UTSW |
9 |
24,396,407 (GRCm39) |
splice site |
probably benign |
|
|
R8307:Dpy19l1
|
UTSW |
9 |
24,414,297 (GRCm39) |
missense |
probably benign |
|
|
R8328:Dpy19l1
|
UTSW |
9 |
24,386,686 (GRCm39) |
nonsense |
probably null |
|
|
R8975:Dpy19l1
|
UTSW |
9 |
24,359,102 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9283:Dpy19l1
|
UTSW |
9 |
24,332,412 (GRCm39) |
nonsense |
probably null |
|
|
R9661:Dpy19l1
|
UTSW |
9 |
24,386,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Dpy19l1
|
UTSW |
9 |
24,343,676 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCAGCTGCTATCAAGTGC -3'
(R):5'- CCTCTTTGAAAACGATCGGC -3'
Sequencing Primer
(F):5'- CAGCTGCTATCAAGTGCTAATC -3'
(R):5'- GAAAACGATCGGCATTTCTCTC -3'
|
| Posted On |
2020-09-11 |
Incidental Mutation