Incidental Mutation 'R9661:Dpy19l1'
| ID |
727583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l1
|
| Ensembl Gene |
ENSMUSG00000043067 |
| Gene Name |
dpy-19 like C-mannosyltransferase 1 |
| Synonyms |
1100001I19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R9661 (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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,645,451 (GRCm39) |
H445Q |
possibly damaging |
Het |
| Aadacl4 |
C |
A |
4: 144,340,287 (GRCm39) |
P4Q |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,748,368 (GRCm39) |
T523A |
possibly damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,168,531 (GRCm39) |
E838G |
probably benign |
Het |
| Atad5 |
G |
T |
11: 79,980,542 (GRCm39) |
|
probably benign |
Het |
| Card10 |
C |
T |
15: 78,683,318 (GRCm39) |
R275H |
probably damaging |
Het |
| Cdh16 |
A |
G |
8: 105,345,612 (GRCm39) |
V327A |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,429,151 (GRCm39) |
Q159L |
|
Het |
| D630003M21Rik |
A |
G |
2: 158,047,673 (GRCm39) |
L732P |
possibly damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,098,579 (GRCm39) |
I308V |
possibly damaging |
Het |
| Dhx9 |
A |
G |
1: 153,340,393 (GRCm39) |
F702L |
probably damaging |
Het |
| Eea1 |
T |
C |
10: 95,862,742 (GRCm39) |
L888S |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,469,531 (GRCm39) |
|
probably null |
Het |
| Fam186a |
T |
A |
15: 99,842,492 (GRCm39) |
I1251F |
possibly damaging |
Het |
| Fer1l4 |
G |
A |
2: 155,862,336 (GRCm39) |
A1779V |
probably damaging |
Het |
| Fgfrl1 |
C |
T |
5: 108,853,841 (GRCm39) |
T407I |
probably benign |
Het |
| Gkn1 |
T |
C |
6: 87,325,173 (GRCm39) |
K79E |
probably damaging |
Het |
| Gm11564 |
C |
T |
11: 99,706,247 (GRCm39) |
R61H |
unknown |
Het |
| Gpr107 |
T |
C |
2: 31,057,075 (GRCm39) |
F56L |
probably benign |
Het |
| H2-T22 |
T |
C |
17: 36,353,371 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
T |
C |
12: 8,367,940 (GRCm39) |
V63A |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,801,963 (GRCm39) |
I37T |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,836 (GRCm39) |
|
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,403,650 (GRCm39) |
I591T |
probably benign |
Het |
| Lrrc49 |
A |
T |
9: 60,573,582 (GRCm39) |
I300N |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,808,779 (GRCm39) |
T150A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,041,857 (GRCm39) |
Q722R |
|
Het |
| Nek9 |
T |
C |
12: 85,361,253 (GRCm39) |
Q484R |
possibly damaging |
Het |
| Nfs1 |
A |
T |
2: 155,970,473 (GRCm39) |
V280E |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,373,792 (GRCm39) |
D472V |
probably damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,425,450 (GRCm39) |
V273A |
probably damaging |
Het |
| Nudt12 |
T |
C |
17: 59,316,981 (GRCm39) |
D222G |
probably benign |
Het |
| Nup98 |
G |
A |
7: 101,782,019 (GRCm39) |
Q1204* |
probably null |
Het |
| Nwd2 |
A |
T |
5: 63,957,780 (GRCm39) |
Y370F |
probably damaging |
Het |
| Oas3 |
A |
T |
5: 120,904,230 (GRCm39) |
I548N |
unknown |
Het |
| Ogfr |
A |
T |
2: 180,233,431 (GRCm39) |
N78Y |
probably damaging |
Het |
| Or10ak11 |
A |
T |
4: 118,687,526 (GRCm39) |
L36Q |
probably benign |
Het |
| Prkcq |
A |
T |
2: 11,250,141 (GRCm39) |
K153* |
probably null |
Het |
| Ptpdc1 |
T |
A |
13: 48,739,610 (GRCm39) |
N607I |
probably benign |
Het |
| Rab5c |
G |
T |
11: 100,606,917 (GRCm39) |
Q221K |
probably benign |
Het |
| Ret |
G |
A |
6: 118,150,437 (GRCm39) |
T693I |
probably benign |
Het |
| Rnf20 |
A |
G |
4: 49,654,556 (GRCm39) |
E871G |
probably damaging |
Het |
| Rtl1 |
G |
T |
12: 109,557,346 (GRCm39) |
P1498T |
possibly damaging |
Het |
| Septin9 |
C |
G |
11: 117,245,751 (GRCm39) |
R458G |
possibly damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,756,788 (GRCm39) |
|
probably null |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc16a4 |
T |
A |
3: 107,213,359 (GRCm39) |
D451E |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,015,984 (GRCm39) |
F390S |
probably benign |
Het |
| Slc4a2 |
T |
A |
5: 24,640,005 (GRCm39) |
M576K |
probably damaging |
Het |
| Smim14 |
T |
C |
5: 65,610,533 (GRCm39) |
H88R |
possibly damaging |
Het |
| Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,455,272 (GRCm39) |
Q3045* |
probably null |
Het |
| Supt7l |
C |
A |
5: 31,680,403 (GRCm39) |
R3M |
probably damaging |
Het |
| Tjap1 |
A |
G |
17: 46,571,092 (GRCm39) |
W132R |
probably damaging |
Het |
| Tmem26 |
T |
A |
10: 68,559,838 (GRCm39) |
W37R |
probably damaging |
Het |
| Tut7 |
T |
C |
13: 59,937,332 (GRCm39) |
D1155G |
probably damaging |
Het |
| Vmn1r119 |
C |
T |
7: 20,746,224 (GRCm39) |
V53M |
possibly damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,166 (GRCm39) |
N805K |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,923,320 (GRCm39) |
V706A |
probably 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 |
|
|
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 |
|
|
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'- GTTTGCTACTCGTATCACTAAGATTG -3'
(R):5'- TCAAGACAGGGCTTCTCTGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation