Incidental Mutation 'R0029:Dpy19l2'
ID |
44576 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpy19l2
|
Ensembl Gene |
ENSMUSG00000085576 |
Gene Name |
dpy-19 like 2 |
Synonyms |
4932443J21Rik |
MMRRC Submission |
038323-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R0029 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
24468343-24607589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24469397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 753
(D753V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133010]
|
AlphaFold |
P0CW70 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133010
AA Change: D753V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132092 Gene: ENSMUSG00000085576 AA Change: D753V
Domain | Start | End | E-Value | Type |
Pfam:Dpy19
|
129 |
772 |
3.1e-233 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
Validation Efficiency |
94% (48/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,945,225 (GRCm39) |
F434L |
probably benign |
Het |
Abt1 |
A |
T |
13: 23,606,678 (GRCm39) |
F141Y |
possibly damaging |
Het |
Anapc15-ps |
A |
G |
10: 95,508,857 (GRCm39) |
I141T |
probably damaging |
Het |
Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
Axin2 |
A |
G |
11: 108,814,873 (GRCm39) |
T254A |
probably benign |
Het |
Ccn4 |
C |
T |
15: 66,784,713 (GRCm39) |
R129C |
probably damaging |
Het |
Ciz1 |
A |
G |
2: 32,261,431 (GRCm39) |
|
probably benign |
Het |
Cpa4 |
A |
G |
6: 30,585,044 (GRCm39) |
Y276C |
probably damaging |
Het |
Cpt1a |
A |
G |
19: 3,431,674 (GRCm39) |
D698G |
probably benign |
Het |
Crebbp |
T |
C |
16: 3,935,307 (GRCm39) |
T861A |
probably damaging |
Het |
Exosc7 |
A |
T |
9: 122,948,302 (GRCm39) |
|
probably benign |
Het |
Fbxw28 |
T |
A |
9: 109,157,357 (GRCm39) |
D244V |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 92,044,539 (GRCm39) |
D1260G |
probably benign |
Het |
Gapvd1 |
T |
A |
2: 34,568,153 (GRCm39) |
I1404F |
probably damaging |
Het |
Gas7 |
A |
G |
11: 67,534,163 (GRCm39) |
S88G |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
Il23r |
A |
C |
6: 67,455,929 (GRCm39) |
|
probably null |
Het |
Impg1 |
T |
C |
9: 80,305,653 (GRCm39) |
D138G |
probably damaging |
Het |
Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
Kirrel2 |
A |
G |
7: 30,152,590 (GRCm39) |
|
probably benign |
Het |
Lipm |
T |
C |
19: 34,093,948 (GRCm39) |
|
probably benign |
Het |
Lrpap1 |
T |
C |
5: 35,255,021 (GRCm39) |
N205S |
possibly damaging |
Het |
Mboat4 |
T |
G |
8: 34,587,363 (GRCm39) |
F87V |
probably damaging |
Het |
Nadsyn1 |
G |
C |
7: 143,359,815 (GRCm39) |
Q386E |
probably benign |
Het |
Nell1 |
G |
A |
7: 49,770,463 (GRCm39) |
|
probably benign |
Het |
Or5ac25 |
T |
C |
16: 59,181,904 (GRCm39) |
R226G |
probably benign |
Het |
Or8g35 |
T |
A |
9: 39,381,956 (GRCm39) |
E22V |
probably benign |
Het |
Pard3 |
G |
T |
8: 128,153,239 (GRCm39) |
|
probably benign |
Het |
Per2 |
C |
A |
1: 91,351,434 (GRCm39) |
R1024L |
possibly damaging |
Het |
Phf11c |
T |
C |
14: 59,622,364 (GRCm39) |
D216G |
probably benign |
Het |
Polk |
G |
A |
13: 96,653,178 (GRCm39) |
T74I |
probably damaging |
Het |
Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
Psmb7 |
T |
A |
2: 38,523,919 (GRCm39) |
H152L |
probably damaging |
Het |
Ralgps1 |
A |
T |
2: 33,031,031 (GRCm39) |
D498E |
probably benign |
Het |
Slc26a2 |
G |
A |
18: 61,335,382 (GRCm39) |
P24S |
possibly damaging |
Het |
Slc4a11 |
A |
G |
2: 130,529,974 (GRCm39) |
F268S |
probably damaging |
Het |
Spmip11 |
T |
C |
15: 98,483,190 (GRCm39) |
|
probably null |
Het |
Stk38 |
T |
C |
17: 29,201,112 (GRCm39) |
E188G |
probably benign |
Het |
Sulf2 |
T |
C |
2: 165,958,893 (GRCm39) |
N105S |
possibly damaging |
Het |
Sult2a3 |
T |
A |
7: 13,806,999 (GRCm39) |
M228L |
probably benign |
Het |
Svil |
C |
A |
18: 5,063,286 (GRCm39) |
D852E |
probably benign |
Het |
Tcaf2 |
A |
T |
6: 42,607,093 (GRCm39) |
L287* |
probably null |
Het |
Tmem132e |
A |
T |
11: 82,335,587 (GRCm39) |
I890F |
probably damaging |
Het |
Tmem63a |
A |
G |
1: 180,790,031 (GRCm39) |
Y401C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,596,850 (GRCm39) |
E20021G |
probably damaging |
Het |
Ubac1 |
G |
T |
2: 25,911,455 (GRCm39) |
T31N |
probably benign |
Het |
Usp29 |
T |
C |
7: 6,964,580 (GRCm39) |
L141P |
probably damaging |
Het |
Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
Vmn1r204 |
A |
G |
13: 22,740,588 (GRCm39) |
Y73C |
probably benign |
Het |
Vmn2r2 |
T |
C |
3: 64,024,365 (GRCm39) |
I739V |
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 |
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 |
|
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'- TGAGGCTACCACCATCATCGGATT -3'
(R):5'- ACGTGTTGACTGGGGCTAGAGA -3'
Sequencing Primer
(F):5'- ACCATCATCGGATTTCTCAGAG -3'
(R):5'- ACTTCATCTTATTCTAGGTGTTGGAC -3'
|
Posted On |
2013-06-11 |