Incidental Mutation 'R4746:Dpy19l1'
ID |
356734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpy19l1
|
Ensembl Gene |
ENSMUSG00000043067 |
Gene Name |
dpy-19 like C-mannosyltransferase 1 |
Synonyms |
1100001I19Rik |
MMRRC Submission |
041968-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R4746 (G1)
|
Quality Score |
221 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
24323074-24414436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 24361966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 332
(V332L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115277]
[ENSMUST00000142064]
[ENSMUST00000170356]
|
AlphaFold |
A6X919 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000115277
AA Change: V138L
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110932 Gene: ENSMUSG00000043067 AA Change: V138L
Domain | Start | End | E-Value | Type |
Pfam:Dpy19
|
10 |
549 |
1.6e-212 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142064
AA Change: V332L
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000119986 Gene: ENSMUSG00000043067 AA Change: V332L
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 benign
Transcript: ENSMUST00000170356
AA Change: V332L
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000129575 Gene: ENSMUSG00000043067 AA Change: V332L
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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
G |
A |
2: 152,282,685 (GRCm39) |
S180N |
probably benign |
Het |
Atp5f1a |
G |
T |
18: 77,866,442 (GRCm39) |
G165V |
probably benign |
Het |
Cbfa2t2 |
A |
C |
2: 154,365,845 (GRCm39) |
M352L |
possibly damaging |
Het |
Ccser2 |
A |
T |
14: 36,631,082 (GRCm39) |
D98E |
probably damaging |
Het |
Cfap20 |
A |
G |
8: 96,148,684 (GRCm39) |
|
probably null |
Het |
Chuk |
A |
T |
19: 44,077,210 (GRCm39) |
C379S |
possibly damaging |
Het |
Cic |
G |
A |
7: 24,987,905 (GRCm39) |
G1531E |
probably damaging |
Het |
Ckap4 |
A |
G |
10: 84,369,384 (GRCm39) |
V116A |
possibly damaging |
Het |
Cxcl13 |
A |
G |
5: 96,107,756 (GRCm39) |
K71E |
probably damaging |
Het |
Dmxl2 |
A |
T |
9: 54,359,080 (GRCm39) |
I210N |
probably benign |
Het |
Donson |
A |
C |
16: 91,479,125 (GRCm39) |
V397G |
probably damaging |
Het |
Dsp |
T |
C |
13: 38,379,080 (GRCm39) |
S1343P |
possibly damaging |
Het |
Egflam |
A |
G |
15: 7,254,120 (GRCm39) |
|
probably null |
Het |
Eif2b4 |
A |
G |
5: 31,344,997 (GRCm39) |
I550T |
probably damaging |
Het |
Fbxo47 |
A |
T |
11: 97,770,254 (GRCm39) |
V46D |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Folr1 |
T |
A |
7: 101,513,184 (GRCm39) |
D37V |
probably damaging |
Het |
Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
Gnb1 |
C |
A |
4: 155,627,531 (GRCm39) |
A104E |
probably damaging |
Het |
Gnptg |
ATTGTTGATGATTT |
AT |
17: 25,454,571 (GRCm39) |
|
probably benign |
Het |
Htra4 |
A |
T |
8: 25,523,713 (GRCm39) |
V284E |
probably damaging |
Het |
Igkv3-3 |
A |
T |
6: 70,664,308 (GRCm39) |
D50V |
probably benign |
Het |
Irs3 |
A |
G |
5: 137,642,209 (GRCm39) |
S410P |
probably benign |
Het |
Kif26b |
C |
T |
1: 178,701,546 (GRCm39) |
Q642* |
probably null |
Het |
Klhl11 |
A |
T |
11: 100,355,176 (GRCm39) |
M215K |
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,795,626 (GRCm39) |
N337S |
possibly damaging |
Het |
Lrrc55 |
G |
A |
2: 85,026,514 (GRCm39) |
A170V |
probably damaging |
Het |
Marchf3 |
A |
T |
18: 56,909,144 (GRCm39) |
W214R |
probably damaging |
Het |
Megf11 |
A |
C |
9: 64,416,027 (GRCm39) |
T79P |
probably damaging |
Het |
Mia3 |
A |
G |
1: 183,126,663 (GRCm39) |
V26A |
possibly damaging |
Het |
Myrf |
A |
G |
19: 10,195,955 (GRCm39) |
F353S |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,970,634 (GRCm39) |
|
probably null |
Het |
Ocstamp |
T |
C |
2: 165,238,208 (GRCm39) |
K352R |
probably benign |
Het |
Or2t35 |
A |
T |
14: 14,407,359 (GRCm38) |
I46F |
probably benign |
Het |
Or8b12 |
G |
T |
9: 37,657,453 (GRCm39) |
V8L |
probably benign |
Het |
Osbpl3 |
T |
C |
6: 50,305,654 (GRCm39) |
N434S |
probably damaging |
Het |
Pign |
A |
C |
1: 105,512,749 (GRCm39) |
L645V |
probably benign |
Het |
Polr1has |
A |
T |
17: 37,275,765 (GRCm39) |
I116L |
probably benign |
Het |
Polr2a |
A |
G |
11: 69,626,500 (GRCm39) |
S1540P |
probably benign |
Het |
Ppp2r3c |
A |
T |
12: 55,349,420 (GRCm39) |
|
probably null |
Het |
Ptprf |
A |
G |
4: 118,082,236 (GRCm39) |
V414A |
possibly damaging |
Het |
Pyroxd2 |
G |
A |
19: 42,740,839 (GRCm39) |
R22* |
probably null |
Het |
Rab11fip2 |
G |
A |
19: 59,925,542 (GRCm39) |
A225V |
probably damaging |
Het |
Ranbp2 |
C |
T |
10: 58,328,492 (GRCm39) |
A2836V |
probably damaging |
Het |
Rimklb |
G |
A |
6: 122,449,591 (GRCm39) |
R28* |
probably null |
Het |
Scyl3 |
G |
A |
1: 163,776,820 (GRCm39) |
R404Q |
probably damaging |
Het |
Slc9a8 |
A |
T |
2: 167,283,090 (GRCm39) |
K79* |
probably null |
Het |
Sowaha |
A |
T |
11: 53,370,163 (GRCm39) |
|
probably null |
Het |
Tnk1 |
A |
G |
11: 69,745,992 (GRCm39) |
V311A |
probably damaging |
Het |
Tnrc6a |
T |
A |
7: 122,789,220 (GRCm39) |
S1680T |
probably damaging |
Het |
Tpp1 |
T |
C |
7: 105,398,158 (GRCm39) |
Y335C |
probably damaging |
Het |
Ttc39b |
A |
G |
4: 83,162,340 (GRCm39) |
V308A |
probably benign |
Het |
Ttll3 |
A |
C |
6: 113,384,353 (GRCm39) |
Q557P |
probably damaging |
Het |
Ulk3 |
G |
A |
9: 57,500,201 (GRCm39) |
A266T |
probably benign |
Het |
Wfdc6b |
C |
A |
2: 164,459,353 (GRCm39) |
C138* |
probably null |
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 |
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 |
|
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'- GGAGAATGGTGTTATACAGTCCTC -3'
(R):5'- CCATTGGTTCATCTTGTGCACAG -3'
Sequencing Primer
(F):5'- tcactaagcccgagtact -3'
(R):5'- CAGTTTATGTGAACGCCAGATC -3'
|
Posted On |
2015-11-11 |