Incidental Mutation 'R2571:Dzip3'
ID |
252599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dzip3
|
Ensembl Gene |
ENSMUSG00000064061 |
Gene Name |
DAZ interacting protein 3, zinc finger |
Synonyms |
2A-HUB, 2310047C04Rik, 6430549P11Rik |
MMRRC Submission |
040429-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2571 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
48744591-48814505 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 48792581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114516]
[ENSMUST00000121869]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000114516
|
SMART Domains |
Protein: ENSMUSP00000110161 Gene: ENSMUSG00000064061
Domain | Start | End | E-Value | Type |
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
coiled coil region
|
548 |
568 |
N/A |
INTRINSIC |
coiled coil region
|
599 |
650 |
N/A |
INTRINSIC |
low complexity region
|
743 |
754 |
N/A |
INTRINSIC |
low complexity region
|
883 |
891 |
N/A |
INTRINSIC |
RING
|
938 |
977 |
2.09e-7 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121869
|
SMART Domains |
Protein: ENSMUSP00000113344 Gene: ENSMUSG00000064061
Domain | Start | End | E-Value | Type |
low complexity region
|
657 |
678 |
N/A |
INTRINSIC |
coiled coil region
|
754 |
774 |
N/A |
INTRINSIC |
coiled coil region
|
805 |
856 |
N/A |
INTRINSIC |
low complexity region
|
949 |
960 |
N/A |
INTRINSIC |
low complexity region
|
1089 |
1097 |
N/A |
INTRINSIC |
RING
|
1144 |
1183 |
2.09e-7 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-indcued allele exhibit embryonic lethality. [provided by MGI curators]
|
Allele List at MGI |
All alleles(23) : Gene trapped(23)
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,289,044 (GRCm39) |
N2438S |
probably benign |
Het |
Ago3 |
G |
A |
4: 126,257,604 (GRCm39) |
R476W |
probably damaging |
Het |
Akap8 |
T |
C |
17: 32,534,429 (GRCm39) |
E339G |
probably damaging |
Het |
Apba2 |
T |
C |
7: 64,395,498 (GRCm39) |
V658A |
probably damaging |
Het |
Bcl3 |
T |
C |
7: 19,543,452 (GRCm39) |
D338G |
probably damaging |
Het |
Bpnt2 |
C |
T |
4: 4,778,192 (GRCm39) |
|
probably null |
Het |
Ccdc138 |
T |
C |
10: 58,349,044 (GRCm39) |
Y197H |
probably benign |
Het |
Ccdc162 |
T |
A |
10: 41,428,393 (GRCm39) |
Q499L |
probably damaging |
Het |
Ccser1 |
G |
A |
6: 61,399,944 (GRCm39) |
C21Y |
probably damaging |
Het |
Chil6 |
A |
T |
3: 106,297,709 (GRCm39) |
Y229* |
probably null |
Het |
Cntnap5a |
C |
T |
1: 116,112,092 (GRCm39) |
R461C |
probably damaging |
Het |
Col19a1 |
T |
A |
1: 24,413,712 (GRCm39) |
R407S |
unknown |
Het |
Crlf3 |
A |
T |
11: 79,938,339 (GRCm39) |
F433I |
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Dnah10 |
A |
T |
5: 124,852,542 (GRCm39) |
R1867W |
probably damaging |
Het |
Dsg3 |
T |
C |
18: 20,673,062 (GRCm39) |
V911A |
probably benign |
Het |
Evpl |
T |
C |
11: 116,128,795 (GRCm39) |
Q10R |
unknown |
Het |
Glra3 |
C |
T |
8: 56,563,516 (GRCm39) |
A337V |
probably benign |
Het |
H2-T5 |
C |
T |
17: 36,478,553 (GRCm39) |
G132R |
possibly damaging |
Het |
Hcfc2 |
T |
C |
10: 82,544,857 (GRCm39) |
F163S |
probably damaging |
Het |
Hells |
T |
C |
19: 38,948,177 (GRCm39) |
V701A |
possibly damaging |
Het |
Helz |
A |
G |
11: 107,504,778 (GRCm39) |
T422A |
probably benign |
Het |
Hhat |
G |
A |
1: 192,235,330 (GRCm39) |
T442I |
probably damaging |
Het |
Hmces |
A |
T |
6: 87,913,202 (GRCm39) |
Q319L |
possibly damaging |
Het |
Ighv1-62-1 |
T |
A |
12: 115,350,377 (GRCm39) |
T97S |
probably damaging |
Het |
Kcne2 |
C |
T |
16: 92,093,800 (GRCm39) |
T109I |
probably damaging |
Het |
Kcnq1 |
T |
G |
7: 142,661,433 (GRCm39) |
L113R |
probably benign |
Het |
Kdm5d |
T |
C |
Y: 940,932 (GRCm39) |
S1106P |
probably benign |
Het |
Kel |
C |
A |
6: 41,665,001 (GRCm39) |
A588S |
possibly damaging |
Het |
Kmt2e |
T |
A |
5: 23,706,885 (GRCm39) |
F1483I |
probably benign |
Het |
Krt4 |
T |
A |
15: 101,829,692 (GRCm39) |
N279Y |
probably damaging |
Het |
Lama4 |
T |
A |
10: 38,918,671 (GRCm39) |
M384K |
possibly damaging |
Het |
Lepr |
C |
T |
4: 101,625,369 (GRCm39) |
T508I |
possibly damaging |
Het |
Lypd10 |
A |
G |
7: 24,412,819 (GRCm39) |
I76V |
probably benign |
Het |
Map1lc3b |
T |
A |
8: 122,320,213 (GRCm39) |
|
probably null |
Het |
Me1 |
T |
C |
9: 86,536,751 (GRCm39) |
H108R |
probably damaging |
Het |
Mindy4 |
T |
C |
6: 55,261,770 (GRCm39) |
S560P |
probably damaging |
Het |
Mmp3 |
T |
A |
9: 7,451,844 (GRCm39) |
I394N |
possibly damaging |
Het |
Mmrn2 |
T |
C |
14: 34,124,896 (GRCm39) |
S826P |
probably damaging |
Het |
Or13n4 |
T |
A |
7: 106,422,933 (GRCm39) |
M267L |
probably benign |
Het |
Osbpl7 |
T |
C |
11: 96,945,667 (GRCm39) |
L138P |
probably damaging |
Het |
Pcdhga11 |
G |
A |
18: 37,889,921 (GRCm39) |
E310K |
probably damaging |
Het |
Pcif1 |
A |
G |
2: 164,726,131 (GRCm39) |
D39G |
probably damaging |
Het |
Ppp1r21 |
C |
T |
17: 88,852,810 (GRCm39) |
T63I |
probably benign |
Het |
Prickle2 |
T |
C |
6: 92,682,381 (GRCm39) |
Q25R |
probably benign |
Het |
Ptk2 |
A |
G |
15: 73,103,768 (GRCm39) |
L94P |
probably damaging |
Het |
Ptprg |
T |
C |
14: 12,122,135 (GRCm38) |
F333S |
probably benign |
Het |
Rag2 |
T |
A |
2: 101,460,312 (GRCm39) |
H207Q |
probably damaging |
Het |
Rps6ka1 |
G |
T |
4: 133,587,923 (GRCm39) |
|
probably null |
Het |
Rps6ka4 |
G |
T |
19: 6,815,471 (GRCm39) |
H174Q |
probably damaging |
Het |
Rreb1 |
C |
A |
13: 38,083,613 (GRCm39) |
T92K |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,708,987 (GRCm39) |
M4793K |
unknown |
Het |
Ryr1 |
T |
A |
7: 28,735,551 (GRCm39) |
M4076L |
possibly damaging |
Het |
Sec16a |
A |
C |
2: 26,329,343 (GRCm39) |
S891A |
probably benign |
Het |
Sgsh |
A |
G |
11: 119,241,340 (GRCm39) |
Y132H |
probably damaging |
Het |
Sos2 |
T |
A |
12: 69,682,492 (GRCm39) |
E242V |
possibly damaging |
Het |
Spata31d1c |
G |
T |
13: 65,184,198 (GRCm39) |
R580L |
probably damaging |
Het |
Spata9 |
C |
A |
13: 76,115,880 (GRCm39) |
|
probably benign |
Het |
Tead2 |
T |
A |
7: 44,875,194 (GRCm39) |
V202E |
probably damaging |
Het |
Thada |
T |
C |
17: 84,762,068 (GRCm39) |
K168E |
probably damaging |
Het |
Tmem64 |
T |
C |
4: 15,266,718 (GRCm39) |
I256T |
probably damaging |
Het |
Tra2a |
G |
T |
6: 49,229,421 (GRCm39) |
|
probably benign |
Het |
Trim30a |
T |
A |
7: 104,078,533 (GRCm39) |
N181I |
possibly damaging |
Het |
Ttc13 |
A |
C |
8: 125,410,538 (GRCm39) |
Y372D |
probably damaging |
Het |
Vit |
T |
C |
17: 78,894,174 (GRCm39) |
V192A |
probably benign |
Het |
Vmn2r69 |
T |
C |
7: 85,064,764 (GRCm39) |
T41A |
probably benign |
Het |
Vps13d |
C |
A |
4: 144,875,706 (GRCm39) |
K1600N |
probably benign |
Het |
Xpnpep3 |
A |
T |
15: 81,335,127 (GRCm39) |
H420L |
probably damaging |
Het |
Zfp322a |
A |
G |
13: 23,540,614 (GRCm39) |
L376P |
probably damaging |
Het |
Zfp619 |
T |
C |
7: 39,186,595 (GRCm39) |
L875P |
probably damaging |
Het |
Zic5 |
T |
A |
14: 122,696,890 (GRCm39) |
Q575L |
unknown |
Het |
|
Other mutations in Dzip3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00825:Dzip3
|
APN |
16 |
48,748,778 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00931:Dzip3
|
APN |
16 |
48,755,860 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01109:Dzip3
|
APN |
16 |
48,750,037 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01121:Dzip3
|
APN |
16 |
48,765,244 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01328:Dzip3
|
APN |
16 |
48,792,621 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01729:Dzip3
|
APN |
16 |
48,748,726 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02044:Dzip3
|
APN |
16 |
48,768,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02051:Dzip3
|
APN |
16 |
48,792,617 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02115:Dzip3
|
APN |
16 |
48,768,848 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02125:Dzip3
|
APN |
16 |
48,747,959 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02136:Dzip3
|
APN |
16 |
48,747,945 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02244:Dzip3
|
APN |
16 |
48,801,351 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02253:Dzip3
|
APN |
16 |
48,765,287 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02412:Dzip3
|
APN |
16 |
48,778,820 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02452:Dzip3
|
APN |
16 |
48,758,900 (GRCm39) |
splice site |
probably benign |
|
IGL02481:Dzip3
|
APN |
16 |
48,795,914 (GRCm39) |
splice site |
probably benign |
|
IGL02499:Dzip3
|
APN |
16 |
48,754,213 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02511:Dzip3
|
APN |
16 |
48,757,343 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02519:Dzip3
|
APN |
16 |
48,748,759 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02610:Dzip3
|
APN |
16 |
48,772,016 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03129:Dzip3
|
APN |
16 |
48,762,446 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL03342:Dzip3
|
APN |
16 |
48,749,986 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03493:Dzip3
|
APN |
16 |
48,772,059 (GRCm39) |
missense |
probably benign |
0.32 |
corvette
|
UTSW |
16 |
48,747,903 (GRCm39) |
critical splice donor site |
probably null |
|
dazwick
|
UTSW |
16 |
48,778,828 (GRCm39) |
missense |
possibly damaging |
0.90 |
1mM(1):Dzip3
|
UTSW |
16 |
48,771,920 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4651001:Dzip3
|
UTSW |
16 |
48,765,241 (GRCm39) |
missense |
probably benign |
|
R0313:Dzip3
|
UTSW |
16 |
48,757,424 (GRCm39) |
missense |
probably damaging |
0.99 |
R0483:Dzip3
|
UTSW |
16 |
48,768,076 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0504:Dzip3
|
UTSW |
16 |
48,780,006 (GRCm39) |
splice site |
probably benign |
|
R0744:Dzip3
|
UTSW |
16 |
48,780,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R0800:Dzip3
|
UTSW |
16 |
48,774,171 (GRCm39) |
splice site |
probably benign |
|
R0927:Dzip3
|
UTSW |
16 |
48,795,840 (GRCm39) |
missense |
probably damaging |
0.99 |
R0931:Dzip3
|
UTSW |
16 |
48,771,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R1170:Dzip3
|
UTSW |
16 |
48,781,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R1203:Dzip3
|
UTSW |
16 |
48,772,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R1205:Dzip3
|
UTSW |
16 |
48,772,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R1442:Dzip3
|
UTSW |
16 |
48,765,985 (GRCm39) |
missense |
probably benign |
0.19 |
R1526:Dzip3
|
UTSW |
16 |
48,757,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R1560:Dzip3
|
UTSW |
16 |
48,771,903 (GRCm39) |
splice site |
probably null |
|
R1585:Dzip3
|
UTSW |
16 |
48,798,241 (GRCm39) |
splice site |
probably benign |
|
R1682:Dzip3
|
UTSW |
16 |
48,778,780 (GRCm39) |
critical splice donor site |
probably null |
|
R1957:Dzip3
|
UTSW |
16 |
48,747,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R2472:Dzip3
|
UTSW |
16 |
48,774,150 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3040:Dzip3
|
UTSW |
16 |
48,748,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R3081:Dzip3
|
UTSW |
16 |
48,747,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R3615:Dzip3
|
UTSW |
16 |
48,757,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R3616:Dzip3
|
UTSW |
16 |
48,757,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R3786:Dzip3
|
UTSW |
16 |
48,795,906 (GRCm39) |
missense |
probably benign |
0.08 |
R3851:Dzip3
|
UTSW |
16 |
48,770,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4097:Dzip3
|
UTSW |
16 |
48,778,852 (GRCm39) |
nonsense |
probably null |
|
R4371:Dzip3
|
UTSW |
16 |
48,763,818 (GRCm39) |
critical splice donor site |
probably null |
|
R4612:Dzip3
|
UTSW |
16 |
48,772,403 (GRCm39) |
nonsense |
probably null |
|
R4671:Dzip3
|
UTSW |
16 |
48,799,953 (GRCm39) |
nonsense |
probably null |
|
R4695:Dzip3
|
UTSW |
16 |
48,771,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R4696:Dzip3
|
UTSW |
16 |
48,746,332 (GRCm39) |
unclassified |
probably benign |
|
R4769:Dzip3
|
UTSW |
16 |
48,758,837 (GRCm39) |
missense |
probably damaging |
0.97 |
R5063:Dzip3
|
UTSW |
16 |
48,774,117 (GRCm39) |
nonsense |
probably null |
|
R5321:Dzip3
|
UTSW |
16 |
48,778,038 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5764:Dzip3
|
UTSW |
16 |
48,747,724 (GRCm39) |
intron |
probably benign |
|
R6020:Dzip3
|
UTSW |
16 |
48,772,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R6218:Dzip3
|
UTSW |
16 |
48,778,828 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6300:Dzip3
|
UTSW |
16 |
48,772,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R6365:Dzip3
|
UTSW |
16 |
48,751,636 (GRCm39) |
missense |
probably damaging |
0.96 |
R6778:Dzip3
|
UTSW |
16 |
48,802,446 (GRCm39) |
missense |
probably benign |
0.00 |
R6915:Dzip3
|
UTSW |
16 |
48,762,488 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7047:Dzip3
|
UTSW |
16 |
48,802,489 (GRCm39) |
missense |
probably benign |
0.04 |
R7059:Dzip3
|
UTSW |
16 |
48,801,305 (GRCm39) |
missense |
probably benign |
0.34 |
R7095:Dzip3
|
UTSW |
16 |
48,748,153 (GRCm39) |
missense |
probably benign |
|
R7227:Dzip3
|
UTSW |
16 |
48,771,932 (GRCm39) |
missense |
probably damaging |
0.99 |
R7319:Dzip3
|
UTSW |
16 |
48,747,903 (GRCm39) |
critical splice donor site |
probably null |
|
R7436:Dzip3
|
UTSW |
16 |
48,772,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Dzip3
|
UTSW |
16 |
48,765,242 (GRCm39) |
missense |
probably benign |
|
R7526:Dzip3
|
UTSW |
16 |
48,795,837 (GRCm39) |
missense |
probably damaging |
0.99 |
R7964:Dzip3
|
UTSW |
16 |
48,772,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R8131:Dzip3
|
UTSW |
16 |
48,754,156 (GRCm39) |
critical splice donor site |
probably null |
|
R8188:Dzip3
|
UTSW |
16 |
48,772,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R8209:Dzip3
|
UTSW |
16 |
48,798,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R8750:Dzip3
|
UTSW |
16 |
48,801,338 (GRCm39) |
missense |
probably damaging |
0.99 |
R8758:Dzip3
|
UTSW |
16 |
48,798,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R8784:Dzip3
|
UTSW |
16 |
48,751,628 (GRCm39) |
missense |
probably damaging |
0.99 |
R9086:Dzip3
|
UTSW |
16 |
48,781,493 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9157:Dzip3
|
UTSW |
16 |
48,748,124 (GRCm39) |
missense |
probably benign |
|
R9170:Dzip3
|
UTSW |
16 |
48,772,401 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9762:Dzip3
|
UTSW |
16 |
48,748,707 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACTGAACCCACACTCTGC -3'
(R):5'- TGACTACTACAACTCAGGACTGTC -3'
Sequencing Primer
(F):5'- CTCTGCACCAAGTAATGAAAATAAGG -3'
(R):5'- TTTCTACAGCATGCCAGAGG -3'
|
Posted On |
2014-12-04 |