Incidental Mutation 'R7862:Dpy19l1'
| ID |
607581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l1
|
| Ensembl Gene |
ENSMUSG00000043067 |
| Gene Name |
dpy-19 like C-mannosyltransferase 1 |
| Synonyms |
1100001I19Rik |
| MMRRC Submission |
045915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R7862 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
24323074-24414436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24386730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 188
(Y188C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115277]
[ENSMUST00000142064]
[ENSMUST00000170356]
|
| AlphaFold |
A6X919 |
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000142064
AA Change: Y188C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067
AA Change: Y188C
| 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 damaging
Transcript: ENSMUST00000170356
AA Change: Y188C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067
AA Change: Y188C
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
A |
C |
3: 145,649,624 (GRCm39) |
*181S |
probably null |
Het |
| Abcc10 |
G |
T |
17: 46,626,458 (GRCm39) |
S661* |
probably null |
Het |
| Abtb2 |
C |
T |
2: 103,532,626 (GRCm39) |
R475W |
probably damaging |
Het |
| Cep97 |
T |
C |
16: 55,726,084 (GRCm39) |
D673G |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,684,983 (GRCm39) |
M144T |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,451,734 (GRCm39) |
D1372G |
probably damaging |
Het |
| Chmp6 |
G |
A |
11: 119,807,836 (GRCm39) |
|
probably null |
Het |
| Cst12 |
T |
C |
2: 148,631,495 (GRCm39) |
V72A |
probably damaging |
Het |
| D1Pas1 |
G |
A |
1: 186,700,349 (GRCm39) |
G93R |
probably damaging |
Het |
| Dhx34 |
C |
A |
7: 15,944,448 (GRCm39) |
V589F |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dmrta1 |
C |
A |
4: 89,576,561 (GRCm39) |
H6N |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,546,851 (GRCm39) |
L285P |
probably damaging |
Het |
| Ehbp1l1 |
C |
T |
19: 5,770,851 (GRCm39) |
R230Q |
probably benign |
Het |
| Ep300 |
T |
G |
15: 81,534,954 (GRCm39) |
V2337G |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,442,400 (GRCm39) |
V150E |
probably damaging |
Het |
| Fkbp11 |
G |
A |
15: 98,624,389 (GRCm39) |
R122* |
probably null |
Het |
| Fkbp5 |
C |
T |
17: 28,631,013 (GRCm39) |
E251K |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,071,756 (GRCm39) |
K88E |
probably damaging |
Het |
| Frrs1 |
T |
C |
3: 116,685,529 (GRCm39) |
V300A |
possibly damaging |
Het |
| Glud1 |
T |
G |
14: 34,047,479 (GRCm39) |
L198V |
possibly damaging |
Het |
| Gsdmc |
A |
T |
15: 63,649,845 (GRCm39) |
W349R |
possibly damaging |
Het |
| Hacd1 |
T |
C |
2: 14,050,013 (GRCm39) |
H64R |
probably damaging |
Het |
| Haus2 |
T |
A |
2: 120,443,570 (GRCm39) |
D75E |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,682,172 (GRCm39) |
F459L |
probably damaging |
Het |
| Ighe |
A |
T |
12: 113,235,428 (GRCm39) |
V272E |
|
Het |
| Iqgap1 |
C |
T |
7: 80,393,636 (GRCm39) |
R647H |
probably benign |
Het |
| Jmy |
T |
C |
13: 93,635,703 (GRCm39) |
I38V |
possibly damaging |
Het |
| Kcnh1 |
G |
T |
1: 191,873,167 (GRCm39) |
|
probably benign |
Het |
| Kctd20 |
C |
T |
17: 29,181,849 (GRCm39) |
A167V |
probably damaging |
Het |
| Klhl38 |
A |
T |
15: 58,178,395 (GRCm39) |
V525E |
probably damaging |
Het |
| Krit1 |
A |
G |
5: 3,862,788 (GRCm39) |
D259G |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,052,036 (GRCm39) |
C443S |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,556,631 (GRCm39) |
V107A |
probably benign |
Het |
| Myl7 |
A |
G |
11: 5,847,157 (GRCm39) |
M132T |
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,666,522 (GRCm39) |
V11A |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,355,236 (GRCm39) |
I1642V |
probably benign |
Het |
| Or4a47 |
T |
C |
2: 89,665,468 (GRCm39) |
T274A |
probably benign |
Het |
| Or6c214 |
T |
C |
10: 129,591,224 (GRCm39) |
T32A |
probably benign |
Het |
| Or7g25 |
C |
A |
9: 19,160,736 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
C |
T |
9: 38,584,624 (GRCm39) |
V39M |
probably benign |
Het |
| Pcdhb2 |
C |
T |
18: 37,429,113 (GRCm39) |
A362V |
probably benign |
Het |
| Pnp2 |
A |
T |
14: 51,201,016 (GRCm39) |
D167V |
possibly damaging |
Het |
| Rasa1 |
G |
A |
13: 85,403,530 (GRCm39) |
T282I |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,265,476 (GRCm39) |
D354G |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,605,893 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Shank3 |
A |
G |
15: 89,389,648 (GRCm39) |
D415G |
possibly damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,003,014 (GRCm39) |
I182V |
probably damaging |
Het |
| Slc6a13 |
A |
G |
6: 121,312,589 (GRCm39) |
Y441C |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,479,446 (GRCm39) |
E193* |
probably null |
Het |
| Spag9 |
T |
C |
11: 94,002,892 (GRCm39) |
I1134T |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,025,351 (GRCm39) |
|
probably null |
Het |
| Stk3 |
A |
G |
15: 35,115,732 (GRCm39) |
V29A |
possibly damaging |
Het |
| Tgfbr1 |
A |
T |
4: 47,403,489 (GRCm39) |
I365F |
probably damaging |
Het |
| Thpo |
C |
T |
16: 20,547,540 (GRCm39) |
V24I |
probably benign |
Het |
| Tle1 |
A |
C |
4: 72,117,552 (GRCm39) |
L36R |
probably damaging |
Het |
| Togaram2 |
T |
C |
17: 71,996,168 (GRCm39) |
V57A |
probably benign |
Het |
| Ttll9 |
C |
T |
2: 152,848,895 (GRCm39) |
A459V |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,870,848 (GRCm39) |
I330V |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,414,718 (GRCm39) |
M2906T |
|
Het |
| Vmn2r28 |
A |
T |
7: 5,493,613 (GRCm39) |
M111K |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,416 (GRCm39) |
C557R |
probably damaging |
Het |
| Zfp873 |
T |
A |
10: 81,896,109 (GRCm39) |
I280K |
probably benign |
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 |
|
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 |
|
|
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'- CGCCCAAAATTGAGACTTGC -3'
(R):5'- AGAGGCTGAGCTTCGTTTAAC -3'
Sequencing Primer
(F):5'- GTTTGCTACTCGTATCACTAAGATTG -3'
(R):5'- TCAAGACAGGGCTTCTCTGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation