Incidental Mutation 'IGL00954:Dpy19l2'
| ID |
28219 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
24468343-24607589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24494114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 672
(N672I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133010]
|
| AlphaFold |
P0CW70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133010
AA Change: N672I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132092
Gene: ENSMUSG00000085576
AA Change: N672I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
129 |
772 |
3.1e-233 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
C |
T |
18: 61,972,756 (GRCm39) |
|
probably benign |
Het |
| Alox5 |
A |
T |
6: 116,431,260 (GRCm39) |
V56D |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,201 (GRCm39) |
S158P |
probably damaging |
Het |
| B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
| BC049715 |
A |
T |
6: 136,817,093 (GRCm39) |
E111V |
possibly damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,645,403 (GRCm39) |
T1492K |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,861,939 (GRCm39) |
E612G |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,381,061 (GRCm39) |
K868N |
possibly damaging |
Het |
| Ei24 |
A |
T |
9: 36,701,166 (GRCm39) |
I51N |
probably damaging |
Het |
| Gdi2 |
T |
C |
13: 3,606,467 (GRCm39) |
V181A |
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,420,697 (GRCm39) |
R354Q |
probably benign |
Het |
| Hao1 |
A |
G |
2: 134,340,181 (GRCm39) |
I370T |
possibly damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Jag2 |
G |
T |
12: 112,884,026 (GRCm39) |
S184R |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,391,853 (GRCm39) |
D147G |
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,757,834 (GRCm39) |
L396P |
probably damaging |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrrc66 |
G |
T |
5: 73,765,741 (GRCm39) |
T434K |
possibly damaging |
Het |
| Macroh2a1 |
A |
G |
13: 56,222,132 (GRCm39) |
S340P |
possibly damaging |
Het |
| Mcm5 |
A |
T |
8: 75,836,740 (GRCm39) |
N64Y |
possibly damaging |
Het |
| Mroh2b |
A |
T |
15: 4,932,536 (GRCm39) |
Y54F |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,083,505 (GRCm39) |
N329K |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,787,369 (GRCm39) |
S249T |
probably benign |
Het |
| Osgep |
T |
A |
14: 51,153,619 (GRCm39) |
I320F |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,710,838 (GRCm39) |
D159V |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,513,757 (GRCm39) |
V978I |
probably damaging |
Het |
| Phospho1 |
T |
A |
11: 95,721,909 (GRCm39) |
V193E |
probably damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,331 (GRCm39) |
K34E |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,455,858 (GRCm39) |
|
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,885,639 (GRCm39) |
|
probably null |
Het |
| Sgsh |
T |
A |
11: 119,237,311 (GRCm39) |
E434D |
probably benign |
Het |
| Tkt |
C |
T |
14: 30,291,052 (GRCm39) |
H355Y |
probably damaging |
Het |
| Tmem128 |
A |
G |
5: 38,419,389 (GRCm39) |
N47S |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,807,148 (GRCm39) |
I15T |
probably damaging |
Het |
| Tns1 |
A |
C |
1: 73,964,128 (GRCm39) |
V1501G |
probably damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,792,596 (GRCm39) |
C641Y |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,449,975 (GRCm39) |
T74A |
probably benign |
Het |
| Zfp820 |
T |
C |
17: 22,038,860 (GRCm39) |
Y156C |
probably damaging |
Het |
|
| Other mutations in Dpy19l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
BB004:Dpy19l2
|
UTSW |
9 |
24,607,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation