Incidental Mutation 'R0022:Dpy19l2'
| ID |
64798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l2
|
| Ensembl Gene |
ENSMUSG00000085576 |
| Gene Name |
dpy-19 like 2 |
| Synonyms |
4932443J21Rik |
| MMRRC Submission |
038317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0022 (G1)
|
| Quality Score |
116 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
24468343-24607589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24607420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 14
(S14P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133010]
|
| AlphaFold |
P0CW70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133010
AA Change: S14P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132092
Gene: ENSMUSG00000085576
AA Change: S14P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
129 |
772 |
3.1e-233 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| Validation Efficiency |
100% (68/68) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,587,485 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
G |
A |
3: 121,782,586 (GRCm39) |
V91I |
possibly damaging |
Het |
| Aste1 |
T |
A |
9: 105,273,823 (GRCm39) |
L21* |
probably null |
Het |
| Bpifb5 |
A |
T |
2: 154,072,268 (GRCm39) |
D325V |
probably damaging |
Het |
| Btbd10 |
G |
A |
7: 112,924,988 (GRCm39) |
Q287* |
probably null |
Het |
| Cdc20 |
T |
A |
4: 118,292,686 (GRCm39) |
H354L |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,132,263 (GRCm39) |
T120I |
probably damaging |
Het |
| Col5a2 |
G |
A |
1: 45,422,843 (GRCm39) |
R1125* |
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,261,549 (GRCm39) |
D613G |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,451,168 (GRCm39) |
R507H |
probably benign |
Het |
| Cracdl |
C |
T |
1: 37,667,326 (GRCm39) |
R240Q |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,903,092 (GRCm39) |
V2049E |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,382 (GRCm39) |
I4V |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,507,675 (GRCm39) |
T138A |
probably damaging |
Het |
| Dclre1b |
G |
T |
3: 103,710,464 (GRCm39) |
H482Q |
probably benign |
Het |
| Elavl3 |
C |
A |
9: 21,948,167 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,503 (GRCm39) |
V220A |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,188,408 (GRCm39) |
I297N |
possibly damaging |
Het |
| Gdpd4 |
A |
T |
7: 97,632,082 (GRCm39) |
N332Y |
probably damaging |
Het |
| Ggct |
C |
A |
6: 54,962,887 (GRCm39) |
E175* |
probably null |
Het |
| Gm5316 |
T |
C |
6: 122,877,354 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxa7 |
T |
C |
6: 52,194,363 (GRCm39) |
N8S |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,510,612 (GRCm39) |
T256A |
possibly damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,275,903 (GRCm39) |
F630S |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,783,657 (GRCm39) |
N378S |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,375,716 (GRCm39) |
Y74F |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,888,050 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,671,355 (GRCm39) |
V1194D |
probably damaging |
Het |
| Mc5r |
T |
G |
18: 68,471,853 (GRCm39) |
S71A |
probably benign |
Het |
| Mcm7 |
T |
C |
5: 138,162,981 (GRCm39) |
*390W |
probably null |
Het |
| Myo18a |
T |
C |
11: 77,734,059 (GRCm39) |
|
probably null |
Het |
| Naa25 |
C |
A |
5: 121,556,039 (GRCm39) |
L276M |
probably damaging |
Het |
| Nlrp1a |
T |
G |
11: 71,014,207 (GRCm39) |
T348P |
probably damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,052,755 (GRCm39) |
K888T |
possibly damaging |
Het |
| Or4f53 |
A |
G |
2: 111,087,994 (GRCm39) |
Y178C |
probably benign |
Het |
| Pabpc6 |
A |
T |
17: 9,888,145 (GRCm39) |
N135K |
probably benign |
Het |
| Pdzd2 |
G |
A |
15: 12,371,691 (GRCm39) |
A2568V |
possibly damaging |
Het |
| Pik3r2 |
A |
G |
8: 71,223,545 (GRCm39) |
F346S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,813,793 (GRCm39) |
W4086R |
probably damaging |
Het |
| Plekhb2 |
G |
A |
1: 34,905,320 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,047,479 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,039 (GRCm39) |
R395W |
probably damaging |
Het |
| Pnldc1 |
A |
G |
17: 13,109,006 (GRCm39) |
Y497H |
probably damaging |
Het |
| Ppp1ca |
T |
G |
19: 4,244,580 (GRCm39) |
V213G |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,995,207 (GRCm39) |
R814C |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,619,627 (GRCm39) |
|
probably benign |
Het |
| Rnasel |
A |
T |
1: 153,636,521 (GRCm39) |
I634F |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,240,276 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,471,011 (GRCm39) |
S4567P |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,671,185 (GRCm39) |
W778R |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,789 (GRCm39) |
L333Q |
probably damaging |
Het |
| Strc |
A |
G |
2: 121,198,874 (GRCm39) |
L1391P |
probably damaging |
Het |
| Tek |
G |
A |
4: 94,725,509 (GRCm39) |
V592M |
probably damaging |
Het |
| Top1 |
A |
C |
2: 160,544,719 (GRCm39) |
K278N |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,585,700 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,910,705 (GRCm39) |
I699T |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,491,860 (GRCm39) |
E119G |
possibly damaging |
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 |
|
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'- ACAAACCCTTCAAGTCTCTACGCTG -3'
(R):5'- AAGATTGCCTAGACTGCACGCTC -3'
Sequencing Primer
(F):5'- TCTCTACGCTGGGAGAAAAAC -3'
(R):5'- ACTGCACGCTCGCCATC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation