Incidental Mutation 'R9493:Dpy19l2'
| ID |
717062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpy19l2
|
| Ensembl Gene |
ENSMUSG00000085576 |
| Gene Name |
dpy-19 like 2 |
| Synonyms |
4932443J21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R9493 (G1)
|
| 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 24530459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 507
(Y507H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133010]
|
| AlphaFold |
P0CW70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133010
AA Change: Y507H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132092
Gene: ENSMUSG00000085576
AA Change: Y507H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dpy19
|
129 |
772 |
3.1e-233 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,838,191 (GRCm39) |
Y799H |
probably damaging |
Het |
| Akap5 |
G |
A |
12: 76,375,041 (GRCm39) |
A158T |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,286,434 (GRCm39) |
K689E |
probably benign |
Het |
| Arid1b |
G |
A |
17: 5,046,423 (GRCm39) |
A404T |
unknown |
Het |
| Bltp1 |
A |
G |
3: 37,065,885 (GRCm39) |
N53S |
|
Het |
| Camk2b |
T |
A |
11: 5,929,711 (GRCm39) |
D396V |
probably damaging |
Het |
| Cd53 |
T |
A |
3: 106,674,683 (GRCm39) |
D128V |
probably null |
Het |
| Cdk15 |
G |
T |
1: 59,326,943 (GRCm39) |
R208L |
probably damaging |
Het |
| Celsr1 |
T |
G |
15: 85,785,346 (GRCm39) |
K2963Q |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,301,074 (GRCm39) |
S2740P |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,632,964 (GRCm39) |
L162H |
probably damaging |
Het |
| Cntn1 |
A |
T |
15: 92,189,644 (GRCm39) |
T656S |
probably damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Dsc3 |
A |
T |
18: 20,122,752 (GRCm39) |
C57* |
probably null |
Het |
| Gramd1b |
A |
G |
9: 40,217,689 (GRCm39) |
Y621H |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,556,522 (GRCm39) |
C739S |
probably benign |
Het |
| Il1rap |
T |
C |
16: 26,541,702 (GRCm39) |
S648P |
probably benign |
Het |
| Ints5 |
C |
T |
19: 8,872,686 (GRCm39) |
T215I |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,834,255 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
T |
A |
14: 102,137,907 (GRCm39) |
S870T |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,015,548 (GRCm39) |
F1288I |
probably damaging |
Het |
| Megf11 |
A |
T |
9: 64,547,376 (GRCm39) |
H209L |
probably damaging |
Het |
| Mtss1 |
C |
T |
15: 58,926,869 (GRCm39) |
R69H |
probably damaging |
Het |
| Nms |
A |
T |
1: 38,980,982 (GRCm39) |
H56L |
probably benign |
Het |
| Or4f54 |
G |
A |
2: 111,122,736 (GRCm39) |
G41D |
probably damaging |
Het |
| Or4k36 |
C |
T |
2: 111,146,288 (GRCm39) |
H155Y |
probably damaging |
Het |
| Or56a5 |
A |
T |
7: 104,793,497 (GRCm39) |
M7K |
possibly damaging |
Het |
| Or5t17 |
T |
C |
2: 86,833,140 (GRCm39) |
S276P |
probably benign |
Het |
| Pds5a |
G |
A |
5: 65,792,747 (GRCm39) |
R729W |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,639,598 (GRCm39) |
R93* |
probably null |
Het |
| Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
| Rtn4 |
G |
A |
11: 29,691,011 (GRCm39) |
V1101I |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,509,021 (GRCm39) |
V653F |
probably damaging |
Het |
| Slc10a2 |
A |
G |
8: 5,139,047 (GRCm39) |
V299A |
|
Het |
| Slc6a15 |
A |
G |
10: 103,229,277 (GRCm39) |
I105M |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,833,395 (GRCm39) |
V209A |
|
Het |
| Snapc2 |
A |
G |
8: 4,304,591 (GRCm39) |
E115G |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,199,529 (GRCm39) |
E592G |
possibly damaging |
Het |
| Spmip6 |
G |
A |
4: 41,508,614 (GRCm39) |
P17L |
|
Het |
| Styxl2 |
T |
A |
1: 165,926,410 (GRCm39) |
K1067N |
probably damaging |
Het |
| Tcl1b1 |
A |
T |
12: 105,130,823 (GRCm39) |
Q102L |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,801,644 (GRCm39) |
N461Y |
probably benign |
Het |
| Trim59 |
C |
A |
3: 68,945,134 (GRCm39) |
G69C |
probably damaging |
Het |
| Tubg1 |
A |
G |
11: 101,017,003 (GRCm39) |
Y435C |
probably damaging |
Het |
| Ucp3 |
A |
C |
7: 100,131,911 (GRCm39) |
H254P |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,157,276 (GRCm39) |
D842G |
probably damaging |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,423 (GRCm39) |
L68H |
probably damaging |
Het |
| Wee2 |
A |
G |
6: 40,421,057 (GRCm39) |
E49G |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,180,706 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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'- ACCCAGTGGAGACATCAATAAAATG -3'
(R):5'- AAGACAGCTCCTAGTCTACTCTC -3'
Sequencing Primer
(F):5'- AGGTGGAATTTGAGCAAC -3'
(R):5'- AGTCTACTCTCTTTGTTGGATGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation