Incidental Mutation 'R8328:Dpy19l1'
ID |
644209 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpy19l1
|
Ensembl Gene |
ENSMUSG00000043067 |
Gene Name |
dpy-19 like C-mannosyltransferase 1 |
Synonyms |
1100001I19Rik |
MMRRC Submission |
067727-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.160)
|
Stock # |
R8328 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
24323074-24414436 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 24386686 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 9
(K9*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115277]
[ENSMUST00000142064]
[ENSMUST00000170356]
|
AlphaFold |
A6X919 |
Predicted Effect |
probably null
Transcript: ENSMUST00000115277
AA Change: K9*
|
SMART Domains |
Protein: ENSMUSP00000110932 Gene: ENSMUSG00000043067 AA Change: K9*
Domain | Start | End | E-Value | Type |
Pfam:Dpy19
|
10 |
549 |
1.6e-212 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142064
AA Change: K203*
|
SMART Domains |
Protein: ENSMUSP00000119986 Gene: ENSMUSG00000043067 AA Change: K203*
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
AA Change: K203*
|
SMART Domains |
Protein: ENSMUSP00000129575 Gene: ENSMUSG00000043067 AA Change: K203*
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
A |
T |
6: 92,866,993 (GRCm39) |
M682K |
probably benign |
Het |
Ankdd1b |
T |
A |
13: 96,591,374 (GRCm39) |
I42F |
possibly damaging |
Het |
Ankrd6 |
C |
T |
4: 32,810,215 (GRCm39) |
E489K |
probably benign |
Het |
Arhgef28 |
A |
T |
13: 98,187,517 (GRCm39) |
H259Q |
possibly damaging |
Het |
Atosb |
T |
C |
4: 43,034,751 (GRCm39) |
T323A |
probably benign |
Het |
C3 |
T |
C |
17: 57,527,973 (GRCm39) |
S749G |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,806,445 (GRCm39) |
S2338P |
probably benign |
Het |
Ces2a |
A |
T |
8: 105,463,998 (GRCm39) |
N210I |
probably damaging |
Het |
Cuzd1 |
A |
T |
7: 130,913,345 (GRCm39) |
V424D |
probably damaging |
Het |
Cyp2j11 |
T |
A |
4: 96,236,605 (GRCm39) |
H67L |
probably benign |
Het |
Dennd5b |
A |
G |
6: 148,922,115 (GRCm39) |
S800P |
probably damaging |
Het |
Dmrta2 |
G |
T |
4: 109,837,206 (GRCm39) |
L49F |
unknown |
Het |
Dsc2 |
T |
C |
18: 20,165,576 (GRCm39) |
H843R |
possibly damaging |
Het |
Dsg1b |
T |
A |
18: 20,510,007 (GRCm39) |
F6I |
probably benign |
Het |
Hck |
C |
T |
2: 152,970,987 (GRCm39) |
A83V |
probably damaging |
Het |
Hdc |
T |
C |
2: 126,443,803 (GRCm39) |
E292G |
probably damaging |
Het |
Ighv1-23 |
A |
G |
12: 114,728,116 (GRCm39) |
L102P |
probably damaging |
Het |
Kdm3b |
G |
A |
18: 34,926,123 (GRCm39) |
V88M |
probably damaging |
Het |
Kremen2 |
A |
G |
17: 23,961,745 (GRCm39) |
V254A |
probably benign |
Het |
Lrrc8e |
T |
A |
8: 4,285,641 (GRCm39) |
I622N |
probably damaging |
Het |
Megf8 |
A |
G |
7: 25,046,917 (GRCm39) |
N1600S |
probably benign |
Het |
Mical3 |
A |
G |
6: 120,912,138 (GRCm39) |
I1907T |
probably damaging |
Het |
Nr4a3 |
T |
A |
4: 48,051,323 (GRCm39) |
Y26N |
probably damaging |
Het |
Nrl |
T |
C |
14: 55,758,163 (GRCm39) |
E188G |
probably damaging |
Het |
Or4d1 |
A |
G |
11: 87,804,985 (GRCm39) |
M249T |
possibly damaging |
Het |
Or9e1 |
T |
A |
11: 58,732,460 (GRCm39) |
D173E |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,897,718 (GRCm39) |
E238K |
probably benign |
Het |
Pramel26 |
A |
G |
4: 143,537,380 (GRCm39) |
L317P |
probably damaging |
Het |
Prr5 |
G |
C |
15: 84,587,387 (GRCm39) |
*388S |
probably null |
Het |
Rptor |
A |
G |
11: 119,783,473 (GRCm39) |
T1156A |
probably benign |
Het |
Slc9c1 |
T |
A |
16: 45,398,227 (GRCm39) |
I664K |
probably damaging |
Het |
Stn1 |
C |
A |
19: 47,505,498 (GRCm39) |
R152L |
probably damaging |
Het |
Syde2 |
T |
C |
3: 145,721,496 (GRCm39) |
V1121A |
probably benign |
Het |
Vmn1r158 |
T |
C |
7: 22,489,487 (GRCm39) |
T241A |
probably damaging |
Het |
Vmn1r209 |
C |
A |
13: 22,990,643 (GRCm39) |
V16L |
probably benign |
Het |
Wdr19 |
A |
G |
5: 65,382,638 (GRCm39) |
E454G |
probably damaging |
Het |
Zan |
C |
T |
5: 137,392,726 (GRCm39) |
E4590K |
unknown |
Het |
Zfp579 |
T |
G |
7: 4,997,866 (GRCm39) |
H15P |
unknown |
Het |
Zfp628 |
A |
G |
7: 4,922,813 (GRCm39) |
N345S |
probably benign |
Het |
Zfp944 |
T |
A |
17: 22,558,705 (GRCm39) |
K181* |
probably null |
Het |
Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
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 |
R8095:Dpy19l1
|
UTSW |
9 |
24,396,160 (GRCm39) |
splice site |
probably null |
|
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 |
|
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'- CGCCCAAAATTGAGACTTGC -3'
(R):5'- GAGAGGCTGAGCTTCGTTTAAC -3'
Sequencing Primer
(F):5'- TTGAGACTTGCAAAATCCAAAAGC -3'
(R):5'- TGGAATTCACTCTAGACCAGGCTG -3'
|
Posted On |
2020-09-02 |