Incidental Mutation 'R1442:Dzip3'
ID |
161571 |
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 |
039497-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1442 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
48744591-48814505 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48765985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 466
(D466G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110161
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114516]
[ENSMUST00000121869]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083733
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114516
AA Change: D466G
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000110161 Gene: ENSMUSG00000064061 AA Change: D466G
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 benign
Transcript: ENSMUST00000121869
AA Change: D672G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000113344 Gene: ENSMUSG00000064061 AA Change: D672G
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.4%
|
Validation Efficiency |
100% (71/71) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
A |
T |
15: 84,839,833 (GRCm39) |
|
probably benign |
Het |
Adamts7 |
T |
A |
9: 90,070,823 (GRCm39) |
I648N |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,385,526 (GRCm39) |
F2252I |
probably damaging |
Het |
Akr1c6 |
A |
T |
13: 4,507,159 (GRCm39) |
H314L |
probably damaging |
Het |
Anxa3 |
T |
A |
5: 96,976,549 (GRCm39) |
|
probably null |
Het |
Apob |
T |
G |
12: 8,036,165 (GRCm39) |
F298V |
probably benign |
Het |
Atp8a2 |
A |
C |
14: 60,097,772 (GRCm39) |
|
probably benign |
Het |
Atp8b5 |
A |
T |
4: 43,334,313 (GRCm39) |
T360S |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,555 (GRCm39) |
N43K |
probably benign |
Het |
Bicral |
T |
A |
17: 47,112,650 (GRCm39) |
H850L |
probably benign |
Het |
C1qtnf1 |
A |
G |
11: 118,339,011 (GRCm39) |
D227G |
probably damaging |
Het |
C8a |
T |
A |
4: 104,685,275 (GRCm39) |
T323S |
possibly damaging |
Het |
Cep89 |
T |
C |
7: 35,117,636 (GRCm39) |
|
probably benign |
Het |
Cercam |
G |
T |
2: 29,770,652 (GRCm39) |
V408L |
probably benign |
Het |
CN725425 |
G |
A |
15: 91,123,158 (GRCm39) |
V76M |
possibly damaging |
Het |
Cops7b |
T |
A |
1: 86,532,835 (GRCm39) |
M231K |
probably benign |
Het |
Cpa2 |
T |
A |
6: 30,544,865 (GRCm39) |
|
probably null |
Het |
Dab2ip |
A |
T |
2: 35,600,268 (GRCm39) |
I287F |
probably damaging |
Het |
Defb10 |
A |
T |
8: 22,348,944 (GRCm39) |
M1L |
probably benign |
Het |
Dscam |
C |
A |
16: 96,409,274 (GRCm39) |
R1883L |
possibly damaging |
Het |
Dsg4 |
T |
A |
18: 20,595,717 (GRCm39) |
I640N |
possibly damaging |
Het |
Duox2 |
G |
C |
2: 122,112,232 (GRCm39) |
P1318R |
probably benign |
Het |
E230025N22Rik |
T |
A |
18: 36,824,462 (GRCm39) |
|
probably null |
Het |
E2f3 |
A |
G |
13: 30,102,652 (GRCm39) |
L80P |
probably damaging |
Het |
Eif2b2 |
T |
C |
12: 85,266,360 (GRCm39) |
S9P |
probably benign |
Het |
Etaa1 |
A |
T |
11: 17,897,201 (GRCm39) |
D305E |
probably benign |
Het |
Fads6 |
C |
A |
11: 115,188,235 (GRCm39) |
R23L |
probably benign |
Het |
Flrt2 |
T |
C |
12: 95,746,979 (GRCm39) |
V439A |
probably damaging |
Het |
Galm |
A |
C |
17: 80,452,614 (GRCm39) |
Q184P |
probably damaging |
Het |
Gtse1 |
C |
T |
15: 85,744,303 (GRCm39) |
|
probably benign |
Het |
Irf7 |
T |
C |
7: 140,843,935 (GRCm39) |
T246A |
probably damaging |
Het |
Kif28 |
A |
G |
1: 179,532,697 (GRCm39) |
V639A |
possibly damaging |
Het |
Klhdc8a |
G |
A |
1: 132,230,385 (GRCm39) |
A167T |
possibly damaging |
Het |
Lrfn3 |
T |
C |
7: 30,059,469 (GRCm39) |
H252R |
probably benign |
Het |
Lzts1 |
G |
T |
8: 69,591,638 (GRCm39) |
A170E |
probably damaging |
Het |
Mphosph9 |
T |
A |
5: 124,403,461 (GRCm39) |
I856F |
possibly damaging |
Het |
Mroh2a |
C |
T |
1: 88,160,075 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
Myh3 |
A |
G |
11: 66,978,103 (GRCm39) |
N392D |
possibly damaging |
Het |
Naalad2 |
T |
C |
9: 18,262,328 (GRCm39) |
|
probably benign |
Het |
Npc1 |
T |
A |
18: 12,328,106 (GRCm39) |
M1068L |
probably benign |
Het |
Nup58 |
T |
A |
14: 60,469,992 (GRCm39) |
|
probably benign |
Het |
Or10c1 |
T |
C |
17: 37,522,595 (GRCm39) |
T50A |
probably benign |
Het |
Or4k40 |
A |
T |
2: 111,250,438 (GRCm39) |
I286N |
probably damaging |
Het |
Or8b1 |
A |
T |
9: 38,399,939 (GRCm39) |
I205F |
probably benign |
Het |
Or8s16 |
T |
C |
15: 98,211,068 (GRCm39) |
Y121C |
probably damaging |
Het |
Parp2 |
T |
G |
14: 51,056,732 (GRCm39) |
|
probably null |
Het |
Ppp4r4 |
T |
C |
12: 103,564,504 (GRCm39) |
V9A |
probably damaging |
Het |
Ptprc |
T |
A |
1: 138,000,050 (GRCm39) |
D856V |
probably damaging |
Het |
Ptpru |
T |
A |
4: 131,535,580 (GRCm39) |
T466S |
probably benign |
Het |
Rhob |
A |
G |
12: 8,549,325 (GRCm39) |
V103A |
possibly damaging |
Het |
Sec23ip |
A |
C |
7: 128,378,510 (GRCm39) |
S775R |
probably benign |
Het |
Slit2 |
T |
G |
5: 48,395,725 (GRCm39) |
D709E |
probably damaging |
Het |
Smok2b |
C |
G |
17: 13,454,390 (GRCm39) |
I183M |
probably damaging |
Het |
Smtnl1 |
T |
A |
2: 84,648,780 (GRCm39) |
D158V |
probably damaging |
Het |
Syne2 |
T |
C |
12: 75,993,489 (GRCm39) |
I2087T |
probably damaging |
Het |
Tada1 |
G |
A |
1: 166,214,319 (GRCm39) |
R106H |
possibly damaging |
Het |
Tecta |
T |
A |
9: 42,243,778 (GRCm39) |
I2025F |
probably damaging |
Het |
Themis |
T |
C |
10: 28,658,131 (GRCm39) |
V386A |
probably damaging |
Het |
Ubr5 |
G |
A |
15: 38,015,168 (GRCm39) |
|
probably benign |
Het |
Vcl |
T |
A |
14: 21,033,446 (GRCm39) |
I134N |
probably damaging |
Het |
Vegfa |
G |
A |
17: 46,336,418 (GRCm39) |
T56I |
possibly damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,692,623 (GRCm39) |
K78* |
probably null |
Het |
Vmn2r82 |
A |
T |
10: 79,215,201 (GRCm39) |
T395S |
probably benign |
Het |
Wbp2nl |
T |
C |
15: 82,198,407 (GRCm39) |
S315P |
probably benign |
Het |
Zfp566 |
T |
C |
7: 29,777,344 (GRCm39) |
Y279C |
probably damaging |
Het |
Zmym2 |
T |
C |
14: 57,180,784 (GRCm39) |
Y899H |
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 |
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 |
|
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'- CGCATTTAAGTCAGTCTCTGAGTGAAGG -3'
(R):5'- TGGATATTACAGACACTCTGTCCCCG -3'
Sequencing Primer
(F):5'- TGTTAGATGACTACTGAAGAGCC -3'
(R):5'- ATGTATAAAGTCCAGTGTTCACATC -3'
|
Posted On |
2014-03-14 |