Incidental Mutation 'R6796:Dpy19l1'
| ID |
533013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l1
|
| Ensembl Gene |
ENSMUSG00000043067 |
| Gene Name |
dpy-19 like C-mannosyltransferase 1 |
| Synonyms |
1100001I19Rik |
| MMRRC Submission |
044909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R6796 (G1)
|
| Quality Score |
124.008 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
24323074-24414436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24414158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 90
(R90L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000142064]
[ENSMUST00000170356]
|
| AlphaFold |
A6X919 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142064
AA Change: R90L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067
AA Change: R90L
| 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 |
possibly damaging
Transcript: ENSMUST00000170356
AA Change: R90L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067
AA Change: R90L
| 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: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,620,597 (GRCm39) |
V3950A |
probably damaging |
Het |
| App |
A |
G |
16: 84,917,455 (GRCm39) |
I63T |
probably damaging |
Het |
| Bpifb4 |
A |
T |
2: 153,803,467 (GRCm39) |
K381N |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,603,607 (GRCm39) |
A529T |
probably damaging |
Het |
| Cdh18 |
T |
A |
15: 23,446,159 (GRCm39) |
N536K |
probably damaging |
Het |
| E2f3 |
A |
G |
13: 30,102,568 (GRCm39) |
V231A |
possibly damaging |
Het |
| F930015N05Rik |
A |
T |
11: 64,326,229 (GRCm39) |
|
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,739,830 (GRCm39) |
H47R |
possibly damaging |
Het |
| Hcar2 |
A |
G |
5: 124,003,330 (GRCm39) |
S58P |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,558 (GRCm39) |
T625A |
possibly damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Itgax |
C |
T |
7: 127,734,236 (GRCm39) |
A336V |
probably damaging |
Het |
| Lin37 |
A |
T |
7: 30,256,341 (GRCm39) |
V140E |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,874,595 (GRCm39) |
I1341K |
unknown |
Het |
| Map4k5 |
T |
C |
12: 69,864,799 (GRCm39) |
I561V |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,857,627 (GRCm39) |
S163P |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,290,039 (GRCm39) |
T158A |
probably damaging |
Het |
| Or5an6 |
A |
T |
19: 12,372,292 (GRCm39) |
I222F |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,278 (GRCm39) |
C95R |
probably damaging |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Pax8 |
A |
T |
2: 24,331,098 (GRCm39) |
M200K |
probably benign |
Het |
| Plcd4 |
T |
C |
1: 74,601,229 (GRCm39) |
S498P |
probably benign |
Het |
| Poglut1 |
T |
C |
16: 38,349,972 (GRCm39) |
Y267C |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,167,694 (GRCm39) |
I655T |
probably benign |
Het |
| Proca1 |
G |
T |
11: 78,085,754 (GRCm39) |
R19L |
probably benign |
Het |
| Prr30 |
A |
G |
14: 101,436,380 (GRCm39) |
S61P |
probably benign |
Het |
| Ranbp17 |
T |
C |
11: 33,167,398 (GRCm39) |
S1022G |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,387,469 (GRCm39) |
H1037R |
probably damaging |
Het |
| Rpl34 |
G |
T |
3: 130,522,926 (GRCm39) |
T6K |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,771,711 (GRCm39) |
T402A |
probably benign |
Het |
| Selenow |
A |
T |
7: 15,653,996 (GRCm39) |
V52E |
probably damaging |
Het |
| Septin14 |
T |
A |
5: 129,774,822 (GRCm39) |
I118L |
probably benign |
Het |
| Sis |
A |
T |
3: 72,872,951 (GRCm39) |
N62K |
probably benign |
Het |
| Sit1 |
A |
T |
4: 43,482,761 (GRCm39) |
C133S |
probably benign |
Het |
| Susd3 |
ACC |
AC |
13: 49,391,041 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,064,275 (GRCm39) |
V3236A |
probably benign |
Het |
| Taf12 |
G |
A |
4: 132,016,725 (GRCm39) |
V168I |
possibly damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,118,526 (GRCm39) |
R219S |
probably damaging |
Het |
| Tmc1 |
A |
T |
19: 20,776,400 (GRCm39) |
V653D |
probably damaging |
Het |
| Utp23 |
T |
A |
15: 51,741,007 (GRCm39) |
L30Q |
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 |
|
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'- AGGCAGAATCCAGTCTCCTC -3'
(R):5'- TATGCCAAGATGGTCCTGC -3'
Sequencing Primer
(F):5'- AGCCGAGCAGCTGTTGATCTC -3'
(R):5'- AAGATGGTCCTGCAGGCG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation