Incidental Mutation 'R7526:Dzip3'
ID |
583024 |
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 |
045598-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7526 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
48744591-48814505 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48795837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 178
(F178Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110161
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114516]
[ENSMUST00000121869]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114516
AA Change: F178Y
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110161 Gene: ENSMUSG00000064061 AA Change: F178Y
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 |
possibly damaging
Transcript: ENSMUST00000121869
AA Change: F178Y
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113344 Gene: ENSMUSG00000064061 AA Change: F178Y
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (74/74) |
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 |
1700086D15Rik |
A |
T |
11: 65,043,807 (GRCm39) |
F85I |
unknown |
Het |
Ankrd22 |
A |
T |
19: 34,126,765 (GRCm39) |
W22R |
possibly damaging |
Het |
Aqr |
A |
T |
2: 113,938,590 (GRCm39) |
H1287Q |
probably damaging |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,366,609 (GRCm39) |
E791G |
probably damaging |
Het |
Bicd1 |
T |
G |
6: 149,415,224 (GRCm39) |
S646A |
possibly damaging |
Het |
Bmpr1b |
A |
T |
3: 141,562,360 (GRCm39) |
Y276N |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,496,850 (GRCm39) |
H465R |
probably damaging |
Het |
Card11 |
A |
T |
5: 140,899,184 (GRCm39) |
|
probably null |
Het |
Ccdc9 |
A |
G |
7: 16,016,325 (GRCm39) |
L139P |
probably damaging |
Het |
Cdk5rap3 |
A |
T |
11: 96,800,771 (GRCm39) |
M355K |
probably benign |
Het |
Cnot2 |
A |
T |
10: 116,342,985 (GRCm39) |
V116E |
probably benign |
Het |
Defb48 |
A |
G |
14: 63,215,280 (GRCm39) |
V32A |
possibly damaging |
Het |
Dmkn |
A |
G |
7: 30,477,076 (GRCm39) |
D460G |
possibly damaging |
Het |
Dmxl2 |
A |
G |
9: 54,308,241 (GRCm39) |
V2170A |
possibly damaging |
Het |
Dnah1 |
A |
T |
14: 31,009,833 (GRCm39) |
F1912I |
possibly damaging |
Het |
Dok3 |
C |
T |
13: 55,675,306 (GRCm39) |
V71I |
probably benign |
Het |
Enpp1 |
T |
C |
10: 24,550,308 (GRCm39) |
|
probably null |
Het |
Eogt |
A |
G |
6: 97,090,913 (GRCm39) |
F409L |
probably damaging |
Het |
Erich6 |
A |
T |
3: 58,538,110 (GRCm39) |
L218H |
probably damaging |
Het |
Fam186a |
G |
C |
15: 99,839,796 (GRCm39) |
I2149M |
possibly damaging |
Het |
Fat1 |
G |
A |
8: 45,476,464 (GRCm39) |
V1837I |
probably damaging |
Het |
Flrt3 |
T |
A |
2: 140,502,126 (GRCm39) |
T501S |
probably damaging |
Het |
Fmn1 |
A |
C |
2: 113,518,479 (GRCm39) |
E1365D |
probably damaging |
Het |
Fzd5 |
G |
T |
1: 64,775,251 (GRCm39) |
P170Q |
probably benign |
Het |
Gm14326 |
G |
A |
2: 177,588,298 (GRCm39) |
H233Y |
probably damaging |
Het |
Gm19410 |
G |
A |
8: 36,257,766 (GRCm39) |
V735M |
probably damaging |
Het |
Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
Gm2832 |
A |
T |
14: 41,002,919 (GRCm39) |
I143L |
|
Het |
Greb1 |
G |
A |
12: 16,766,766 (GRCm39) |
T344I |
probably benign |
Het |
Grik2 |
A |
T |
10: 49,399,918 (GRCm39) |
Y271N |
possibly damaging |
Het |
Grin3b |
A |
G |
10: 79,808,885 (GRCm39) |
N212D |
probably benign |
Het |
Hgsnat |
A |
G |
8: 26,461,077 (GRCm39) |
L187P |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,532,324 (GRCm39) |
I3152T |
probably damaging |
Het |
Hsp90aa1 |
A |
T |
12: 110,661,728 (GRCm39) |
I96N |
unknown |
Het |
Il18r1 |
T |
A |
1: 40,510,932 (GRCm39) |
L6I |
probably damaging |
Het |
Ing3 |
G |
A |
6: 21,953,798 (GRCm39) |
V80I |
probably damaging |
Het |
Kif18b |
T |
C |
11: 102,805,493 (GRCm39) |
I255V |
probably damaging |
Het |
Kif2c |
A |
T |
4: 117,039,629 (GRCm39) |
N20K |
possibly damaging |
Het |
Mfsd6l |
T |
C |
11: 68,448,864 (GRCm39) |
W572R |
probably damaging |
Het |
Mybphl |
A |
G |
3: 108,281,496 (GRCm39) |
T71A |
probably benign |
Het |
Myo7a |
G |
T |
7: 97,734,655 (GRCm39) |
T613K |
possibly damaging |
Het |
Nfatc3 |
T |
C |
8: 106,805,715 (GRCm39) |
S195P |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,308,351 (GRCm39) |
N603S |
probably benign |
Het |
Or52ae9 |
T |
C |
7: 103,389,607 (GRCm39) |
Y280C |
probably damaging |
Het |
Or8k22 |
A |
T |
2: 86,163,697 (GRCm39) |
M1K |
probably null |
Het |
Or8k37 |
A |
G |
2: 86,470,013 (GRCm39) |
I13T |
possibly damaging |
Het |
Parp8 |
T |
C |
13: 117,031,341 (GRCm39) |
E457G |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,571,076 (GRCm39) |
F154L |
probably benign |
Het |
Pear1 |
A |
G |
3: 87,659,875 (GRCm39) |
S704P |
probably damaging |
Het |
Pkib |
A |
G |
10: 57,612,394 (GRCm39) |
T92A |
probably benign |
Het |
Pnpla7 |
A |
G |
2: 24,888,678 (GRCm39) |
R376G |
possibly damaging |
Het |
Pramel28 |
A |
T |
4: 143,692,387 (GRCm39) |
C205S |
probably benign |
Het |
Ptprd |
T |
A |
4: 75,984,564 (GRCm39) |
E527D |
probably benign |
Het |
Pum1 |
T |
C |
4: 130,474,337 (GRCm39) |
V469A |
probably damaging |
Het |
Rnf148 |
G |
A |
6: 23,654,283 (GRCm39) |
Q238* |
probably null |
Het |
Scn9a |
A |
C |
2: 66,313,990 (GRCm39) |
N1909K |
probably benign |
Het |
Sema3c |
A |
T |
5: 17,932,594 (GRCm39) |
H699L |
possibly damaging |
Het |
Sema3f |
A |
T |
9: 107,566,927 (GRCm39) |
C201S |
probably damaging |
Het |
Serinc2 |
T |
A |
4: 130,152,583 (GRCm39) |
D206V |
probably benign |
Het |
Serping1 |
A |
T |
2: 84,597,637 (GRCm39) |
S415T |
probably benign |
Het |
Sirpb1b |
A |
T |
3: 15,613,932 (GRCm39) |
L50Q |
probably damaging |
Het |
Slc25a22 |
T |
C |
7: 141,011,296 (GRCm39) |
E262G |
probably benign |
Het |
Slc5a8 |
A |
G |
10: 88,738,353 (GRCm39) |
I205M |
probably damaging |
Het |
Sod2 |
G |
T |
17: 13,226,918 (GRCm39) |
|
probably benign |
Het |
Tec |
T |
C |
5: 72,943,362 (GRCm39) |
I118V |
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,740,847 (GRCm39) |
V1212E |
probably damaging |
Het |
Tex44 |
G |
A |
1: 86,354,237 (GRCm39) |
V49I |
probably benign |
Het |
Tmem132d |
A |
T |
5: 127,861,205 (GRCm39) |
L972* |
probably null |
Het |
Tpte |
G |
A |
8: 22,815,563 (GRCm39) |
|
probably null |
Het |
Trim6 |
T |
A |
7: 103,882,039 (GRCm39) |
I456N |
probably damaging |
Het |
Ubr4 |
G |
C |
4: 139,149,728 (GRCm39) |
V520L |
probably benign |
Het |
Ubxn8 |
A |
T |
8: 34,123,635 (GRCm39) |
N101K |
probably benign |
Het |
Vmn2r60 |
AG |
A |
7: 41,845,158 (GRCm39) |
|
probably null |
Het |
Vmn2r83 |
A |
G |
10: 79,327,392 (GRCm39) |
T667A |
probably damaging |
Het |
Zpld2 |
T |
C |
4: 133,927,384 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CCAAGTGCATGATTAACTACCAG -3'
(R):5'- AGACATGTTTCTCTTTGGTTGACAG -3'
Sequencing Primer
(F):5'- AATTAGAAAGAAGAAAGGAACACTCC -3'
(R):5'- ACGGATATTAAAACTGACCA -3'
|
Posted On |
2019-10-17 |