Incidental Mutation 'BB004:Dpy19l2'
ID |
642283 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpy19l2
|
Ensembl Gene |
ENSMUSG00000085576 |
Gene Name |
dpy-19 like 2 |
Synonyms |
4932443J21Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
BB004
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
24468343-24607589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24607197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 88
(V88A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133010]
|
AlphaFold |
P0CW70 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000133010
AA Change: V88A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000132092 Gene: ENSMUSG00000085576 AA Change: V88A
Domain | Start | End | E-Value | Type |
Pfam:Dpy19
|
129 |
772 |
3.1e-233 |
PFAM |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit male sterility associated with globozoospermia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
A |
G |
4: 103,123,539 (GRCm39) |
M111T |
probably benign |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,257,266 (GRCm39) |
G1188D |
probably damaging |
Het |
Amz2 |
A |
G |
11: 109,319,884 (GRCm39) |
K90R |
probably damaging |
Het |
Arhgef4 |
G |
T |
1: 34,846,334 (GRCm39) |
Q227H |
probably damaging |
Het |
B4galt3 |
T |
A |
1: 171,099,342 (GRCm39) |
C10* |
probably null |
Het |
Banf2 |
T |
A |
2: 143,915,718 (GRCm39) |
M53K |
probably benign |
Het |
BC034090 |
A |
T |
1: 155,117,371 (GRCm39) |
L249* |
probably null |
Het |
Cftr |
A |
G |
6: 18,267,970 (GRCm39) |
D673G |
possibly damaging |
Het |
Cntnap2 |
G |
T |
6: 47,072,621 (GRCm39) |
C1063F |
possibly damaging |
Het |
Cstpp1 |
T |
A |
2: 91,252,250 (GRCm39) |
D37V |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,550,494 (GRCm39) |
I296T |
probably damaging |
Het |
Fbln5 |
T |
C |
12: 101,784,647 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,225,656 (GRCm39) |
D532G |
possibly damaging |
Het |
Fnta |
G |
A |
8: 26,494,454 (GRCm39) |
R258* |
probably null |
Het |
Gch1 |
G |
A |
14: 47,393,380 (GRCm39) |
H201Y |
probably damaging |
Het |
Grik2 |
A |
T |
10: 49,116,890 (GRCm39) |
S624T |
probably damaging |
Het |
Grm5 |
T |
A |
7: 87,685,382 (GRCm39) |
S500T |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,485,526 (GRCm39) |
I4359F |
probably damaging |
Het |
Hrc |
T |
A |
7: 44,985,477 (GRCm39) |
H209Q |
possibly damaging |
Het |
Hsd17b14 |
T |
C |
7: 45,215,395 (GRCm39) |
M164T |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,307,476 (GRCm39) |
F3952L |
possibly damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Lig4 |
A |
T |
8: 10,023,629 (GRCm39) |
H50Q |
possibly damaging |
Het |
Lrp6 |
G |
T |
6: 134,497,513 (GRCm39) |
R165S |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,592,011 (GRCm39) |
T958A |
|
Het |
Myo19 |
A |
G |
11: 84,791,046 (GRCm39) |
E419G |
probably damaging |
Het |
Ndufa5 |
A |
G |
6: 24,527,291 (GRCm39) |
V16A |
possibly damaging |
Het |
Or10a2 |
T |
C |
7: 106,673,496 (GRCm39) |
F154L |
probably benign |
Het |
Phf24 |
A |
C |
4: 42,934,774 (GRCm39) |
T137P |
probably damaging |
Het |
Pkp4 |
A |
T |
2: 59,142,098 (GRCm39) |
N467I |
probably damaging |
Het |
Pramel25 |
T |
A |
4: 143,519,536 (GRCm39) |
I99N |
probably benign |
Het |
Rbm12b2 |
C |
T |
4: 12,095,417 (GRCm39) |
R759C |
possibly damaging |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rnf34 |
T |
A |
5: 122,988,288 (GRCm39) |
|
probably benign |
Het |
Scaf8 |
T |
A |
17: 3,209,495 (GRCm39) |
S73T |
unknown |
Het |
Scn4a |
T |
A |
11: 106,233,209 (GRCm39) |
E454D |
probably damaging |
Het |
Serpina1e |
A |
G |
12: 103,917,450 (GRCm39) |
V73A |
probably benign |
Het |
Sh3rf2 |
A |
G |
18: 42,244,487 (GRCm39) |
T350A |
probably benign |
Het |
Slc35a1 |
A |
G |
4: 34,669,021 (GRCm39) |
V264A |
probably damaging |
Het |
Slf2 |
A |
G |
19: 44,923,740 (GRCm39) |
K185E |
probably damaging |
Het |
Spmip8 |
T |
A |
8: 96,039,786 (GRCm39) |
S68T |
probably benign |
Het |
Spsb2 |
T |
C |
6: 124,786,336 (GRCm39) |
F23S |
probably benign |
Het |
Ssx2ip |
T |
G |
3: 146,138,365 (GRCm39) |
L404R |
probably damaging |
Het |
Strn4 |
T |
A |
7: 16,560,556 (GRCm39) |
L236Q |
probably null |
Het |
Tcp10b |
A |
G |
17: 13,288,579 (GRCm39) |
T202A |
probably benign |
Het |
Tdp1 |
G |
T |
12: 99,878,555 (GRCm39) |
V448L |
probably damaging |
Het |
Tecrl |
T |
C |
5: 83,502,666 (GRCm39) |
E61G |
probably damaging |
Het |
Trim50 |
T |
C |
5: 135,382,465 (GRCm39) |
F106L |
probably benign |
Het |
Usp5 |
G |
T |
6: 124,801,192 (GRCm39) |
F224L |
probably benign |
Het |
Vmn2r114 |
G |
C |
17: 23,510,619 (GRCm39) |
N620K |
probably damaging |
Het |
Vmn2r45 |
C |
A |
7: 8,486,513 (GRCm39) |
M258I |
probably benign |
Het |
Zfp574 |
T |
A |
7: 24,779,572 (GRCm39) |
V198E |
probably benign |
Het |
Zmym4 |
A |
G |
4: 126,799,170 (GRCm39) |
I722T |
probably benign |
Het |
|
Other mutations in Dpy19l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00954:Dpy19l2
|
APN |
9 |
24,494,114 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01137:Dpy19l2
|
APN |
9 |
24,569,858 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01586:Dpy19l2
|
APN |
9 |
24,578,271 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02245:Dpy19l2
|
APN |
9 |
24,607,321 (GRCm39) |
missense |
probably benign |
|
IGL02507:Dpy19l2
|
APN |
9 |
24,542,563 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02541:Dpy19l2
|
APN |
9 |
24,569,943 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02644:Dpy19l2
|
APN |
9 |
24,569,888 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03144:Dpy19l2
|
APN |
9 |
24,557,603 (GRCm39) |
missense |
possibly damaging |
0.92 |
Deferential
|
UTSW |
9 |
24,607,110 (GRCm39) |
missense |
probably benign |
0.41 |
polite
|
UTSW |
9 |
24,572,039 (GRCm39) |
missense |
possibly damaging |
0.91 |
BB014:Dpy19l2
|
UTSW |
9 |
24,607,197 (GRCm39) |
missense |
probably benign |
0.00 |
R0022:Dpy19l2
|
UTSW |
9 |
24,607,420 (GRCm39) |
missense |
probably benign |
|
R0029:Dpy19l2
|
UTSW |
9 |
24,469,397 (GRCm39) |
missense |
probably damaging |
0.97 |
R0066:Dpy19l2
|
UTSW |
9 |
24,557,679 (GRCm39) |
splice site |
probably benign |
|
R0066:Dpy19l2
|
UTSW |
9 |
24,557,679 (GRCm39) |
splice site |
probably benign |
|
R0089:Dpy19l2
|
UTSW |
9 |
24,607,089 (GRCm39) |
missense |
probably benign |
0.01 |
R0240:Dpy19l2
|
UTSW |
9 |
24,569,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R0240:Dpy19l2
|
UTSW |
9 |
24,569,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R0349:Dpy19l2
|
UTSW |
9 |
24,607,218 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0491:Dpy19l2
|
UTSW |
9 |
24,607,324 (GRCm39) |
missense |
probably benign |
0.09 |
R0519:Dpy19l2
|
UTSW |
9 |
24,469,391 (GRCm39) |
missense |
probably benign |
0.30 |
R1398:Dpy19l2
|
UTSW |
9 |
24,492,559 (GRCm39) |
splice site |
probably benign |
|
R1465:Dpy19l2
|
UTSW |
9 |
24,580,618 (GRCm39) |
missense |
probably benign |
0.04 |
R1465:Dpy19l2
|
UTSW |
9 |
24,580,618 (GRCm39) |
missense |
probably benign |
0.04 |
R1576:Dpy19l2
|
UTSW |
9 |
24,495,798 (GRCm39) |
missense |
probably benign |
|
R1606:Dpy19l2
|
UTSW |
9 |
24,492,511 (GRCm39) |
missense |
probably benign |
|
R2157:Dpy19l2
|
UTSW |
9 |
24,592,076 (GRCm39) |
missense |
probably benign |
0.02 |
R2157:Dpy19l2
|
UTSW |
9 |
24,495,928 (GRCm39) |
missense |
probably benign |
0.00 |
R2402:Dpy19l2
|
UTSW |
9 |
24,492,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R2409:Dpy19l2
|
UTSW |
9 |
24,569,924 (GRCm39) |
missense |
probably benign |
0.00 |
R3196:Dpy19l2
|
UTSW |
9 |
24,607,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R3419:Dpy19l2
|
UTSW |
9 |
24,492,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R4884:Dpy19l2
|
UTSW |
9 |
24,539,476 (GRCm39) |
nonsense |
probably null |
|
R5289:Dpy19l2
|
UTSW |
9 |
24,607,293 (GRCm39) |
missense |
probably benign |
|
R5950:Dpy19l2
|
UTSW |
9 |
24,492,430 (GRCm39) |
missense |
probably benign |
0.10 |
R6470:Dpy19l2
|
UTSW |
9 |
24,572,039 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7028:Dpy19l2
|
UTSW |
9 |
24,539,547 (GRCm39) |
missense |
probably benign |
0.15 |
R7051:Dpy19l2
|
UTSW |
9 |
24,495,789 (GRCm39) |
missense |
probably benign |
0.00 |
R7095:Dpy19l2
|
UTSW |
9 |
24,607,110 (GRCm39) |
missense |
probably benign |
0.41 |
R7649:Dpy19l2
|
UTSW |
9 |
24,607,459 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R7927:Dpy19l2
|
UTSW |
9 |
24,607,197 (GRCm39) |
missense |
probably benign |
0.00 |
R7936:Dpy19l2
|
UTSW |
9 |
24,469,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R8076:Dpy19l2
|
UTSW |
9 |
24,591,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R8259:Dpy19l2
|
UTSW |
9 |
24,580,702 (GRCm39) |
missense |
probably benign |
0.08 |
R8473:Dpy19l2
|
UTSW |
9 |
24,492,526 (GRCm39) |
missense |
probably benign |
|
R9493:Dpy19l2
|
UTSW |
9 |
24,530,459 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Dpy19l2
|
UTSW |
9 |
24,496,833 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Dpy19l2
|
UTSW |
9 |
24,572,120 (GRCm39) |
splice site |
probably null |
|
Z1177:Dpy19l2
|
UTSW |
9 |
24,557,655 (GRCm39) |
missense |
probably benign |
0.13 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTCAAGTCTCTACGCTGG -3'
(R):5'- CCGACAAGGAGTAAGCTCAG -3'
Sequencing Primer
(F):5'- GTCTCTACGCTGGGAGAAAAACC -3'
(R):5'- ACAATCCTCCTGCACGGG -3'
|
Posted On |
2020-08-01 |