Incidental Mutation 'IGL02499:Dzip3'
ID |
295952 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02499
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
48744591-48814505 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 48754213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Valine
at position 945
(L945V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114516]
[ENSMUST00000121869]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114516
AA Change: L739V
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000110161 Gene: ENSMUSG00000064061 AA Change: L739V
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: L945V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113344 Gene: ENSMUSG00000064061 AA Change: L945V
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: ENSMUST00000123961
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147358
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151950
|
SMART Domains |
Protein: ENSMUSP00000117675 Gene: ENSMUSG00000064061
Domain | Start | End | E-Value | Type |
low complexity region
|
82 |
90 |
N/A |
INTRINSIC |
SCOP:d1ldjb_
|
113 |
161 |
1e-3 |
SMART |
Blast:RING
|
137 |
161 |
4e-10 |
BLAST |
|
Coding Region Coverage |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Abcb1a |
A |
G |
5: 8,776,807 (GRCm39) |
N835S |
possibly damaging |
Het |
Abr |
A |
T |
11: 76,399,916 (GRCm39) |
F27Y |
probably benign |
Het |
Adam5 |
C |
T |
8: 25,271,581 (GRCm39) |
|
probably null |
Het |
Alas1 |
A |
T |
9: 106,118,520 (GRCm39) |
Y201N |
probably damaging |
Het |
Aldoart1 |
T |
A |
4: 72,770,476 (GRCm39) |
R111W |
possibly damaging |
Het |
Arhgef25 |
A |
G |
10: 127,021,460 (GRCm39) |
Y253H |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,090,291 (GRCm39) |
A1076E |
possibly damaging |
Het |
Baz2b |
C |
T |
2: 59,731,840 (GRCm39) |
R2066K |
possibly damaging |
Het |
Bdh1 |
G |
T |
16: 31,256,866 (GRCm39) |
R5L |
possibly damaging |
Het |
Brap |
A |
G |
5: 121,817,934 (GRCm39) |
Y358C |
probably damaging |
Het |
Cad |
T |
C |
5: 31,226,948 (GRCm39) |
V1235A |
probably damaging |
Het |
Cadps |
G |
T |
14: 12,822,725 (GRCm38) |
S5* |
probably null |
Het |
Cd200r2 |
A |
G |
16: 44,734,948 (GRCm39) |
T220A |
possibly damaging |
Het |
Cd209e |
T |
A |
8: 3,904,238 (GRCm39) |
M6L |
probably benign |
Het |
Cdh23 |
G |
T |
10: 60,220,958 (GRCm39) |
T1265K |
probably damaging |
Het |
Clec16a |
T |
C |
16: 10,512,540 (GRCm39) |
S828P |
probably benign |
Het |
Dao |
A |
G |
5: 114,152,002 (GRCm39) |
K107E |
possibly damaging |
Het |
Dnah6 |
T |
A |
6: 72,998,210 (GRCm39) |
M4071L |
probably benign |
Het |
Dvl1 |
T |
C |
4: 155,939,237 (GRCm39) |
I250T |
probably benign |
Het |
Gm128 |
A |
G |
3: 95,147,992 (GRCm39) |
S101P |
possibly damaging |
Het |
Gphn |
T |
C |
12: 78,539,074 (GRCm39) |
L240P |
probably benign |
Het |
Hecw2 |
A |
G |
1: 53,965,647 (GRCm39) |
I393T |
probably benign |
Het |
Iigp1c |
T |
C |
18: 60,378,710 (GRCm39) |
S82P |
probably damaging |
Het |
Kat14 |
A |
G |
2: 144,235,751 (GRCm39) |
E161G |
probably benign |
Het |
Kcne3 |
A |
C |
7: 99,833,610 (GRCm39) |
I76L |
probably benign |
Het |
Kcnk18 |
A |
T |
19: 59,223,614 (GRCm39) |
Q253L |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,741,806 (GRCm39) |
|
probably benign |
Het |
Lrrc73 |
A |
G |
17: 46,567,915 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
G |
7: 135,296,056 (GRCm39) |
S2993P |
possibly damaging |
Het |
Mto1 |
T |
A |
9: 78,368,794 (GRCm39) |
|
probably benign |
Het |
Myo9a |
T |
A |
9: 59,722,669 (GRCm39) |
|
probably benign |
Het |
Myt1 |
G |
A |
2: 181,467,342 (GRCm39) |
|
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,566,885 (GRCm39) |
T587A |
probably benign |
Het |
Nemf |
T |
A |
12: 69,368,903 (GRCm39) |
I771F |
probably damaging |
Het |
Or10k2 |
T |
A |
8: 84,267,812 (GRCm39) |
V13D |
possibly damaging |
Het |
Or5k16 |
A |
G |
16: 58,736,614 (GRCm39) |
L130P |
probably damaging |
Het |
Or8c10 |
A |
T |
9: 38,278,977 (GRCm39) |
Y45F |
probably benign |
Het |
Papln |
T |
C |
12: 83,827,445 (GRCm39) |
V761A |
probably benign |
Het |
Pask |
A |
T |
1: 93,248,817 (GRCm39) |
L861* |
probably null |
Het |
Pcdh18 |
T |
A |
3: 49,707,896 (GRCm39) |
R859S |
probably benign |
Het |
Ppip5k1 |
C |
T |
2: 121,162,034 (GRCm39) |
|
probably null |
Het |
Ptprs |
A |
G |
17: 56,744,884 (GRCm39) |
V284A |
probably damaging |
Het |
Rasgrp4 |
A |
T |
7: 28,850,928 (GRCm39) |
|
probably benign |
Het |
Rp1 |
T |
C |
1: 4,419,271 (GRCm39) |
I614V |
probably benign |
Het |
Sec23ip |
T |
C |
7: 128,378,640 (GRCm39) |
I818T |
probably damaging |
Het |
Skint11 |
G |
A |
4: 114,051,801 (GRCm39) |
A50T |
probably benign |
Het |
Sqor |
T |
A |
2: 122,650,007 (GRCm39) |
M417K |
possibly damaging |
Het |
Tbc1d24 |
T |
C |
17: 24,426,593 (GRCm39) |
|
probably null |
Het |
Tbc1d8b |
A |
T |
X: 138,613,173 (GRCm39) |
D333V |
probably damaging |
Het |
Tbx2 |
T |
C |
11: 85,731,739 (GRCm39) |
S679P |
possibly damaging |
Het |
Thbs2 |
A |
G |
17: 14,904,328 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,689,795 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,493,568 (GRCm39) |
I126N |
probably damaging |
Het |
Zbtb10 |
G |
T |
3: 9,316,800 (GRCm39) |
G204V |
probably damaging |
Het |
Zfp426 |
A |
C |
9: 20,384,414 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
Posted On |
2015-04-16 |