Incidental Mutation 'R7641:Dpy19l3'
| ID |
590242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l3
|
| Ensembl Gene |
ENSMUSG00000043671 |
| Gene Name |
dpy-19 like C-mannosyltransferase 3 |
| Synonyms |
9330164H19Rik |
| MMRRC Submission |
045699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R7641 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
35384925-35453879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 35394734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 601
(D601E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051377]
[ENSMUST00000143590]
|
| AlphaFold |
Q71B07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051377
AA Change: D601E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: D601E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
55 |
712 |
2.2e-243 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143590
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
T |
A |
5: 121,657,370 (GRCm39) |
Q641L |
probably benign |
Het |
| Aknad1 |
A |
T |
3: 108,679,291 (GRCm39) |
H474L |
probably benign |
Het |
| Alkal1 |
A |
T |
1: 6,459,712 (GRCm39) |
Y96F |
probably damaging |
Het |
| Cars1 |
A |
G |
7: 143,140,840 (GRCm39) |
|
probably null |
Het |
| Chtf18 |
A |
T |
17: 25,941,249 (GRCm39) |
|
probably null |
Het |
| Cog2 |
C |
A |
8: 125,264,621 (GRCm39) |
N333K |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,758,625 (GRCm39) |
R2194* |
probably null |
Het |
| Dnah14 |
A |
T |
1: 181,535,098 (GRCm39) |
I2355L |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,151,697 (GRCm39) |
|
probably null |
Het |
| Elf1 |
G |
A |
14: 79,808,163 (GRCm39) |
G205E |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,817,256 (GRCm39) |
K4330* |
probably null |
Het |
| Gm6525 |
A |
T |
3: 84,082,150 (GRCm39) |
T24S |
probably benign |
Het |
| Golga4 |
G |
T |
9: 118,386,643 (GRCm39) |
R1255L |
probably benign |
Het |
| Gpn2 |
A |
T |
4: 133,315,970 (GRCm39) |
Q243L |
probably null |
Het |
| Grb10 |
T |
C |
11: 11,883,492 (GRCm39) |
K588E |
possibly damaging |
Het |
| Gys1 |
T |
C |
7: 45,104,495 (GRCm39) |
S641P |
probably damaging |
Het |
| H2-M5 |
T |
A |
17: 37,298,323 (GRCm39) |
M331L |
probably benign |
Het |
| Ighv6-6 |
T |
A |
12: 114,398,837 (GRCm39) |
I10L |
probably benign |
Het |
| Jmy |
C |
T |
13: 93,579,107 (GRCm39) |
R675Q |
probably damaging |
Het |
| Lonp2 |
A |
T |
8: 87,392,386 (GRCm39) |
Q484L |
probably benign |
Het |
| Map3k20 |
T |
A |
2: 72,228,705 (GRCm39) |
L308H |
probably damaging |
Het |
| Mep1b |
T |
C |
18: 21,228,034 (GRCm39) |
F546L |
possibly damaging |
Het |
| Mier1 |
A |
G |
4: 102,996,637 (GRCm39) |
E133G |
possibly damaging |
Het |
| Msh3 |
C |
A |
13: 92,349,011 (GRCm39) |
V1074L |
probably benign |
Het |
| Muc6 |
A |
T |
7: 141,224,247 (GRCm39) |
L1645Q |
unknown |
Het |
| Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
| Pdyn |
A |
T |
2: 129,531,748 (GRCm39) |
V14E |
possibly damaging |
Het |
| Prdm16 |
T |
A |
4: 154,429,901 (GRCm39) |
H356L |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,634,961 (GRCm39) |
C453R |
probably benign |
Het |
| Rasgrf2 |
C |
T |
13: 92,267,914 (GRCm39) |
S30N |
possibly damaging |
Het |
| Rlf |
A |
G |
4: 121,016,393 (GRCm39) |
S315P |
probably damaging |
Het |
| Rusc2 |
C |
T |
4: 43,425,335 (GRCm39) |
R1147W |
possibly damaging |
Het |
| Sacs |
T |
A |
14: 61,440,320 (GRCm39) |
Y789N |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,786,676 (GRCm39) |
L289P |
probably damaging |
Het |
| Septin3 |
A |
G |
15: 82,174,983 (GRCm39) |
Y308C |
probably damaging |
Het |
| Slc2a12 |
A |
G |
10: 22,569,893 (GRCm39) |
D528G |
probably damaging |
Het |
| Slc2a13 |
A |
G |
15: 91,156,359 (GRCm39) |
*638Q |
probably null |
Het |
| Smchd1 |
T |
A |
17: 71,697,474 (GRCm39) |
E1155D |
probably benign |
Het |
| Sorcs2 |
G |
A |
5: 36,555,296 (GRCm39) |
R32C |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Tonsl |
C |
T |
15: 76,517,852 (GRCm39) |
D650N |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,949 (GRCm39) |
F97I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,572,554 (GRCm39) |
Q26113R |
possibly damaging |
Het |
| Unc5d |
A |
T |
8: 29,210,003 (GRCm39) |
N444K |
probably damaging |
Het |
| Usp17la |
A |
T |
7: 104,510,654 (GRCm39) |
K420* |
probably null |
Het |
| Vmn2r114 |
T |
C |
17: 23,527,177 (GRCm39) |
N452D |
possibly damaging |
Het |
| Vps16 |
T |
C |
2: 130,282,448 (GRCm39) |
V427A |
probably benign |
Het |
| Wdr5b |
T |
A |
16: 35,862,712 (GRCm39) |
V277D |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,465,370 (GRCm39) |
M462L |
possibly damaging |
Het |
| Zfp40 |
A |
G |
17: 23,397,257 (GRCm39) |
V80A |
possibly damaging |
Het |
| Zfp930 |
A |
T |
8: 69,681,337 (GRCm39) |
H344L |
probably damaging |
Het |
|
| Other mutations in Dpy19l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Dpy19l3
|
APN |
7 |
35,392,192 (GRCm39) |
splice site |
probably benign |
|
|
IGL01351:Dpy19l3
|
APN |
7 |
35,426,840 (GRCm39) |
splice site |
probably benign |
|
|
IGL01622:Dpy19l3
|
APN |
7 |
35,422,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01623:Dpy19l3
|
APN |
7 |
35,422,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01645:Dpy19l3
|
APN |
7 |
35,394,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02725:Dpy19l3
|
APN |
7 |
35,411,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02817:Dpy19l3
|
APN |
7 |
35,392,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Dpy19l3
|
APN |
7 |
35,452,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03178:Dpy19l3
|
APN |
7 |
35,429,154 (GRCm39) |
nonsense |
probably null |
|
|
IGL03374:Dpy19l3
|
APN |
7 |
35,411,633 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0143:Dpy19l3
|
UTSW |
7 |
35,413,640 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0164:Dpy19l3
|
UTSW |
7 |
35,416,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0164:Dpy19l3
|
UTSW |
7 |
35,416,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0385:Dpy19l3
|
UTSW |
7 |
35,452,130 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0705:Dpy19l3
|
UTSW |
7 |
35,394,741 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1489:Dpy19l3
|
UTSW |
7 |
35,424,835 (GRCm39) |
nonsense |
probably null |
|
|
R1640:Dpy19l3
|
UTSW |
7 |
35,449,203 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1782:Dpy19l3
|
UTSW |
7 |
35,407,580 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1843:Dpy19l3
|
UTSW |
7 |
35,429,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2096:Dpy19l3
|
UTSW |
7 |
35,426,713 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3814:Dpy19l3
|
UTSW |
7 |
35,426,717 (GRCm39) |
nonsense |
probably null |
|
|
R4438:Dpy19l3
|
UTSW |
7 |
35,392,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4537:Dpy19l3
|
UTSW |
7 |
35,411,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4735:Dpy19l3
|
UTSW |
7 |
35,422,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4737:Dpy19l3
|
UTSW |
7 |
35,402,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Dpy19l3
|
UTSW |
7 |
35,411,607 (GRCm39) |
nonsense |
probably null |
|
|
R4915:Dpy19l3
|
UTSW |
7 |
35,452,167 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4920:Dpy19l3
|
UTSW |
7 |
35,407,467 (GRCm39) |
intron |
probably benign |
|
|
R5300:Dpy19l3
|
UTSW |
7 |
35,426,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5527:Dpy19l3
|
UTSW |
7 |
35,413,555 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5801:Dpy19l3
|
UTSW |
7 |
35,424,723 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6815:Dpy19l3
|
UTSW |
7 |
35,449,272 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7150:Dpy19l3
|
UTSW |
7 |
35,408,055 (GRCm39) |
missense |
probably benign |
|
|
R7198:Dpy19l3
|
UTSW |
7 |
35,449,190 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7378:Dpy19l3
|
UTSW |
7 |
35,452,067 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7625:Dpy19l3
|
UTSW |
7 |
35,452,106 (GRCm39) |
missense |
probably benign |
|
|
R7674:Dpy19l3
|
UTSW |
7 |
35,394,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8034:Dpy19l3
|
UTSW |
7 |
35,449,281 (GRCm39) |
missense |
probably benign |
|
|
R8073:Dpy19l3
|
UTSW |
7 |
35,429,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Dpy19l3
|
UTSW |
7 |
35,394,814 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8206:Dpy19l3
|
UTSW |
7 |
35,429,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9299:Dpy19l3
|
UTSW |
7 |
35,424,752 (GRCm39) |
nonsense |
probably null |
|
|
R9765:Dpy19l3
|
UTSW |
7 |
35,408,056 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACCTAGCTCTTAAAAGGCAG -3'
(R):5'- AGTTCTGCTCATCCGTGTG -3'
Sequencing Primer
(F):5'- GCTCTTAAAAGGCAGAATCAGGATTC -3'
(R):5'- CAGAGCTGAGTGATTCTGAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation