Incidental Mutation 'R6020:Dzip3'
ID |
478899 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dzip3
|
Ensembl Gene |
ENSMUSG00000064061 |
Gene Name |
DAZ interacting protein 3, zinc finger |
Synonyms |
2A-HUB, 2310047C04Rik, 6430549P11Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6020 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
48744591-48814505 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 48772205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 488
(W488L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114516]
[ENSMUST00000121869]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000121869
AA Change: W488L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113344 Gene: ENSMUSG00000064061 AA Change: W488L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133377
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
C |
A |
11: 110,036,439 (GRCm39) |
V557F |
possibly damaging |
Het |
Abi3 |
A |
T |
11: 95,732,851 (GRCm39) |
L41* |
probably null |
Het |
Actn1 |
C |
A |
12: 80,221,229 (GRCm39) |
|
probably null |
Het |
Adamts15 |
G |
T |
9: 30,813,358 (GRCm39) |
R936S |
probably benign |
Het |
Angel2 |
T |
C |
1: 190,665,068 (GRCm39) |
S22P |
probably benign |
Het |
Ank2 |
T |
G |
3: 126,740,470 (GRCm39) |
|
probably benign |
Het |
Astn1 |
A |
G |
1: 158,337,563 (GRCm39) |
D423G |
probably damaging |
Het |
Casp9 |
A |
G |
4: 141,523,849 (GRCm39) |
D78G |
probably damaging |
Het |
Cbr4 |
A |
G |
8: 61,940,887 (GRCm39) |
D2G |
probably benign |
Het |
Ccdc8 |
T |
A |
7: 16,730,506 (GRCm39) |
L665H |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,167,105 (GRCm39) |
N1847I |
probably damaging |
Het |
Cnst |
T |
C |
1: 179,437,440 (GRCm39) |
W335R |
probably benign |
Het |
Ddr2 |
T |
A |
1: 169,832,671 (GRCm39) |
I130F |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,391,665 (GRCm39) |
A677T |
probably benign |
Het |
Ephb3 |
T |
G |
16: 21,040,763 (GRCm39) |
I637S |
probably damaging |
Het |
Etv3 |
A |
G |
3: 87,436,671 (GRCm39) |
D142G |
probably benign |
Het |
Fabp5 |
C |
T |
3: 10,081,149 (GRCm39) |
T126I |
probably benign |
Het |
Fam13b |
A |
C |
18: 34,627,827 (GRCm39) |
Y125D |
probably damaging |
Het |
Fsip2 |
C |
A |
2: 82,822,471 (GRCm39) |
P6068Q |
probably damaging |
Het |
Gm11232 |
A |
G |
4: 71,674,905 (GRCm39) |
F199S |
possibly damaging |
Het |
Gm5493 |
A |
G |
17: 22,967,034 (GRCm39) |
K57E |
probably benign |
Het |
Gm7334 |
A |
G |
17: 51,006,265 (GRCm39) |
M184V |
probably benign |
Het |
Gm9894 |
T |
C |
13: 67,911,954 (GRCm39) |
|
noncoding transcript |
Het |
Gpd2 |
T |
A |
2: 57,254,525 (GRCm39) |
N674K |
probably benign |
Het |
H2-M10.6 |
A |
G |
17: 37,123,959 (GRCm39) |
Y141C |
probably damaging |
Het |
Heatr5a |
C |
T |
12: 51,931,110 (GRCm39) |
E1796K |
probably benign |
Het |
Hexim2 |
A |
G |
11: 103,029,118 (GRCm39) |
T57A |
probably benign |
Het |
Hrg |
A |
T |
16: 22,773,268 (GRCm39) |
N134Y |
probably damaging |
Het |
Hsd17b12 |
T |
C |
2: 93,864,322 (GRCm39) |
T262A |
probably damaging |
Het |
Irak3 |
G |
T |
10: 119,979,042 (GRCm39) |
P470T |
probably damaging |
Het |
Itgbl1 |
A |
T |
14: 124,083,977 (GRCm39) |
D285V |
probably damaging |
Het |
Kcp |
A |
T |
6: 29,502,863 (GRCm39) |
V164E |
probably benign |
Het |
Klhdc7b |
T |
A |
15: 89,272,589 (GRCm39) |
M1157K |
probably damaging |
Het |
Lcor |
G |
A |
19: 41,571,986 (GRCm39) |
G247D |
possibly damaging |
Het |
Mdc1 |
G |
A |
17: 36,159,525 (GRCm39) |
G635D |
probably benign |
Het |
Mdc1 |
A |
G |
17: 36,168,464 (GRCm39) |
K1690R |
probably benign |
Het |
Mpp3 |
A |
T |
11: 101,909,365 (GRCm39) |
|
probably benign |
Het |
Ncor2 |
G |
T |
5: 125,097,075 (GRCm39) |
H2285N |
probably benign |
Het |
Neb |
T |
A |
2: 52,147,839 (GRCm39) |
T2727S |
probably benign |
Het |
Nkx6-2 |
T |
C |
7: 139,161,483 (GRCm39) |
D234G |
possibly damaging |
Het |
Nlrp9c |
T |
C |
7: 26,084,150 (GRCm39) |
I476M |
probably benign |
Het |
Nrsn1 |
T |
G |
13: 25,437,355 (GRCm39) |
Q191P |
probably damaging |
Het |
Or14j10 |
A |
T |
17: 37,934,858 (GRCm39) |
S223T |
possibly damaging |
Het |
Or1e30 |
C |
T |
11: 73,678,378 (GRCm39) |
L205F |
probably benign |
Het |
Or51ag1 |
T |
A |
7: 103,156,006 (GRCm39) |
H49L |
probably benign |
Het |
Patl1 |
T |
G |
19: 11,914,718 (GRCm39) |
L623R |
probably damaging |
Het |
Pdc |
T |
C |
1: 150,209,117 (GRCm39) |
I200T |
probably benign |
Het |
Pdzk1 |
A |
G |
3: 96,775,742 (GRCm39) |
D370G |
probably benign |
Het |
Pglyrp3 |
A |
T |
3: 91,938,841 (GRCm39) |
I339F |
probably damaging |
Het |
Plxnb1 |
T |
C |
9: 108,945,679 (GRCm39) |
V2070A |
probably damaging |
Het |
Poln |
G |
A |
5: 34,266,775 (GRCm39) |
R461C |
probably damaging |
Het |
Prl2b1 |
C |
A |
13: 27,567,491 (GRCm39) |
V218L |
probably damaging |
Het |
Pygl |
T |
C |
12: 70,263,428 (GRCm39) |
D55G |
probably damaging |
Het |
Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rsrp1 |
T |
C |
4: 134,651,692 (GRCm39) |
F152S |
probably damaging |
Het |
Sim2 |
T |
C |
16: 93,898,110 (GRCm39) |
S115P |
probably damaging |
Het |
Slc17a1 |
T |
A |
13: 24,059,593 (GRCm39) |
I108K |
possibly damaging |
Het |
Slc30a8 |
A |
G |
15: 52,189,054 (GRCm39) |
D223G |
probably damaging |
Het |
Slc39a4 |
A |
T |
15: 76,500,342 (GRCm39) |
N69K |
probably benign |
Het |
Slc51a |
T |
G |
16: 32,298,584 (GRCm39) |
T58P |
probably damaging |
Het |
Slc7a14 |
T |
C |
3: 31,278,261 (GRCm39) |
H448R |
probably benign |
Het |
Smc3 |
G |
A |
19: 53,613,594 (GRCm39) |
|
probably null |
Het |
Sox6 |
A |
T |
7: 115,085,863 (GRCm39) |
D659E |
probably damaging |
Het |
Stard9 |
GCCC |
GCC |
2: 120,524,196 (GRCm39) |
|
probably null |
Het |
Tsr1 |
C |
T |
11: 74,791,119 (GRCm39) |
|
probably null |
Het |
Ttc12 |
T |
C |
9: 49,354,422 (GRCm39) |
K565E |
probably damaging |
Het |
Ube4b |
A |
T |
4: 149,452,768 (GRCm39) |
V386E |
probably benign |
Het |
Ush2a |
T |
A |
1: 188,460,293 (GRCm39) |
|
probably null |
Het |
Usp5 |
C |
A |
6: 124,794,576 (GRCm39) |
|
probably benign |
Het |
Vmn1r216 |
T |
C |
13: 23,284,105 (GRCm39) |
F263L |
probably benign |
Het |
Vmn2r88 |
T |
A |
14: 51,655,606 (GRCm39) |
L606* |
probably null |
Het |
Wee2 |
T |
A |
6: 40,426,554 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
T |
C |
8: 109,519,159 (GRCm39) |
Y94H |
probably damaging |
Het |
Zfp385c |
G |
A |
11: 100,523,594 (GRCm39) |
P120L |
probably benign |
Het |
Zscan4-ps3 |
T |
C |
7: 11,344,228 (GRCm39) |
F62S |
probably damaging |
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 |
R2571:Dzip3
|
UTSW |
16 |
48,792,581 (GRCm39) |
splice site |
probably null |
|
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 |
|
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'- TGTTTCATCCCAAGGCGCAG -3'
(R):5'- CAAATATTTGATGAGGCTATGCCACC -3'
Sequencing Primer
(F):5'- TCCCAAGGCGCAGAAGAATATCAG -3'
(R):5'- AAGAGCTGCTTATACACAAGAATG -3'
|
Posted On |
2017-06-26 |