Incidental Mutation 'R8307:Dpy19l1'
| ID |
641135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l1
|
| Ensembl Gene |
ENSMUSG00000043067 |
| Gene Name |
dpy-19 like C-mannosyltransferase 1 |
| Synonyms |
1100001I19Rik |
| MMRRC Submission |
067717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R8307 (G1)
|
| Quality Score |
91.0077 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
24323074-24414436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24414297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 44
(P44S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000142064]
[ENSMUST00000170356]
|
| AlphaFold |
A6X919 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142064
AA Change: P44S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067
AA Change: P44S
| 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: P44S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067
AA Change: P44S
| 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: 99.1%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
C |
A |
4: 148,025,837 (GRCm39) |
T119K |
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,227,922 (GRCm39) |
L655* |
probably null |
Het |
| Aifm2 |
A |
G |
10: 61,562,171 (GRCm39) |
Y69C |
probably damaging |
Het |
| Atp2c1 |
C |
T |
9: 105,320,030 (GRCm39) |
V448I |
probably benign |
Het |
| Barx2 |
A |
G |
9: 31,770,307 (GRCm39) |
S74P |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,978,498 (GRCm39) |
K939E |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,358,949 (GRCm39) |
F124L |
probably benign |
Het |
| Cdh12 |
T |
A |
15: 21,358,950 (GRCm39) |
Y125N |
probably damaging |
Het |
| Cdx2 |
A |
G |
5: 147,243,477 (GRCm39) |
Y106H |
possibly damaging |
Het |
| Chmp1a |
C |
T |
8: 123,932,980 (GRCm39) |
G158S |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,079,702 (GRCm39) |
Y1277F |
possibly damaging |
Het |
| Csde1 |
A |
G |
3: 102,946,389 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
C |
4: 86,744,109 (GRCm39) |
D1317A |
probably benign |
Het |
| Dgcr2 |
C |
T |
16: 17,676,242 (GRCm39) |
G176D |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,260,362 (GRCm39) |
M993K |
possibly damaging |
Het |
| Dsg2 |
C |
T |
18: 20,708,121 (GRCm39) |
P74L |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,065,894 (GRCm39) |
F2078Y |
probably damaging |
Het |
| Fancl |
A |
G |
11: 26,349,642 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,347,402 (GRCm39) |
R41L |
possibly damaging |
Het |
| Gemin5 |
G |
A |
11: 58,042,420 (GRCm39) |
T467M |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,330,707 (GRCm39) |
Q102R |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,286,127 (GRCm39) |
D2093G |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Igkv1-131 |
A |
G |
6: 67,743,051 (GRCm39) |
Y111H |
probably damaging |
Het |
| Il6st |
G |
T |
13: 112,624,281 (GRCm39) |
G177V |
probably benign |
Het |
| Kank4 |
G |
A |
4: 98,666,915 (GRCm39) |
Q511* |
probably null |
Het |
| Krt90 |
A |
G |
15: 101,467,634 (GRCm39) |
L248P |
probably damaging |
Het |
| Krtap5-2 |
A |
G |
7: 141,728,586 (GRCm39) |
C187R |
unknown |
Het |
| Lonp1 |
C |
A |
17: 56,933,573 (GRCm39) |
A101S |
probably benign |
Het |
| Nckap5l |
A |
G |
15: 99,321,058 (GRCm39) |
C1241R |
probably damaging |
Het |
| Or1j11 |
A |
G |
2: 36,312,333 (GRCm39) |
T308A |
probably benign |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or6c203 |
T |
C |
10: 129,010,101 (GRCm39) |
D263G |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,342,307 (GRCm39) |
C1131* |
probably null |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,847 (GRCm39) |
D416G |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,284,894 (GRCm39) |
M786T |
possibly damaging |
Het |
| Pink1 |
A |
T |
4: 138,045,273 (GRCm39) |
M297K |
probably benign |
Het |
| Pln |
T |
C |
10: 53,219,975 (GRCm39) |
Y6H |
unknown |
Het |
| Ppp2r2c |
A |
G |
5: 37,104,430 (GRCm39) |
D270G |
probably damaging |
Het |
| Pramel58 |
T |
G |
5: 94,831,416 (GRCm39) |
L141R |
probably damaging |
Het |
| Prcd |
A |
T |
11: 116,550,199 (GRCm39) |
T76S |
possibly damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,721,137 (GRCm39) |
|
probably null |
Het |
| Rab11fip4 |
A |
T |
11: 79,581,600 (GRCm39) |
N532Y |
possibly damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,788,308 (GRCm39) |
V592L |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,753,498 (GRCm39) |
D793G |
probably damaging |
Het |
| Sec14l1 |
G |
A |
11: 117,034,242 (GRCm39) |
|
probably null |
Het |
| Srcap |
T |
A |
7: 127,124,541 (GRCm39) |
V237E |
probably damaging |
Het |
| Srl |
A |
G |
16: 4,315,009 (GRCm39) |
I211T |
probably benign |
Het |
| Tasor |
G |
T |
14: 27,193,622 (GRCm39) |
A941S |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,356,909 (GRCm39) |
V883A |
probably damaging |
Het |
| Trim46 |
A |
G |
3: 89,151,223 (GRCm39) |
Y113H |
probably benign |
Het |
| Trim58 |
G |
A |
11: 58,537,909 (GRCm39) |
A267T |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,607,086 (GRCm39) |
G140S |
|
Het |
| Vmn2r110 |
C |
A |
17: 20,803,319 (GRCm39) |
V419L |
probably benign |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,270 (GRCm39) |
F249L |
probably benign |
Het |
| Vps8 |
A |
C |
16: 21,314,652 (GRCm39) |
D584A |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,276,063 (GRCm39) |
C394S |
probably damaging |
Het |
| Zscan4e |
A |
G |
7: 11,041,059 (GRCm39) |
I271T |
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 |
|
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 |
|
|
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'- AGTCAGAGAGGGCTGCTAACTG -3'
(R):5'- ACAGAAACCCCGGAGTGTAC -3'
Sequencing Primer
(F):5'- GCTGCTAACTGGCTCACCTAG -3'
(R):5'- AGGTCGTCCACGCTACTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation