Incidental Mutation 'R6218:Dzip3'
ID |
503870 |
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 # |
R6218 (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 48778828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 323
(M323K)
|
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: M323K
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000110161 Gene: ENSMUSG00000064061 AA Change: M323K
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: M323K
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113344 Gene: ENSMUSG00000064061 AA Change: M323K
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 |
0.1828 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (65/65) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
G |
T |
11: 99,728,730 (GRCm39) |
Q38K |
probably benign |
Het |
9930111J21Rik2 |
A |
T |
11: 48,910,134 (GRCm39) |
N766K |
probably benign |
Het |
Adam15 |
A |
C |
3: 89,251,190 (GRCm39) |
I505S |
probably benign |
Het |
Apc2 |
T |
C |
10: 80,142,254 (GRCm39) |
M391T |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Bclaf1 |
A |
G |
10: 20,210,374 (GRCm39) |
S840G |
probably benign |
Het |
Cacna2d4 |
A |
G |
6: 119,216,021 (GRCm39) |
Y96C |
probably damaging |
Het |
Cald1 |
CAAAA |
CAAA |
6: 34,724,863 (GRCm39) |
|
probably null |
Het |
Ddhd1 |
A |
G |
14: 45,851,633 (GRCm39) |
L141P |
probably damaging |
Het |
Dnaaf3 |
A |
T |
7: 4,526,671 (GRCm39) |
S469T |
probably benign |
Het |
Eci2 |
T |
A |
13: 35,177,048 (GRCm39) |
|
probably null |
Het |
Fam227b |
A |
T |
2: 125,968,882 (GRCm39) |
V64E |
probably damaging |
Het |
Galnt2 |
A |
G |
8: 125,070,054 (GRCm39) |
I524V |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm3443 |
T |
A |
19: 21,533,110 (GRCm39) |
S25T |
probably damaging |
Het |
Gpr22 |
T |
A |
12: 31,761,616 (GRCm39) |
K14* |
probably null |
Het |
Grip1 |
T |
C |
10: 119,822,251 (GRCm39) |
S405P |
possibly damaging |
Het |
Helz2 |
T |
C |
2: 180,877,738 (GRCm39) |
H1020R |
probably damaging |
Het |
Helz2 |
C |
A |
2: 180,874,087 (GRCm39) |
V2136L |
probably benign |
Het |
Il36rn |
G |
A |
2: 24,167,502 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
T |
A |
6: 90,666,617 (GRCm39) |
S607C |
probably damaging |
Het |
Irag1 |
G |
A |
7: 110,476,112 (GRCm39) |
T819M |
probably benign |
Het |
Klhl2 |
A |
T |
8: 65,205,801 (GRCm39) |
Y373* |
probably null |
Het |
L3mbtl3 |
T |
C |
10: 26,168,645 (GRCm39) |
I595V |
unknown |
Het |
Large2 |
T |
C |
2: 92,200,981 (GRCm39) |
D65G |
probably damaging |
Het |
Lrrfip1 |
T |
C |
1: 91,009,881 (GRCm39) |
Y122H |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,569,714 (GRCm39) |
D1002E |
unknown |
Het |
Mink1 |
C |
T |
11: 70,489,720 (GRCm39) |
T59I |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,092,507 (GRCm39) |
N2097D |
probably benign |
Het |
Nbea |
C |
A |
3: 55,535,905 (GRCm39) |
C2893F |
probably damaging |
Het |
Nlgn1 |
A |
T |
3: 25,490,257 (GRCm39) |
V490E |
probably damaging |
Het |
Or2w1b |
G |
A |
13: 21,300,401 (GRCm39) |
E180K |
probably damaging |
Het |
Or2y3 |
A |
G |
17: 38,393,620 (GRCm39) |
M83T |
probably damaging |
Het |
Or4c123 |
G |
T |
2: 89,127,306 (GRCm39) |
H103N |
probably damaging |
Het |
Or4f62 |
T |
C |
2: 111,986,701 (GRCm39) |
I135T |
probably damaging |
Het |
Or4k2 |
C |
A |
14: 50,424,135 (GRCm39) |
D180Y |
probably damaging |
Het |
Pctp |
A |
G |
11: 89,878,144 (GRCm39) |
I130T |
probably benign |
Het |
Pdcl3 |
T |
C |
1: 39,027,152 (GRCm39) |
|
probably null |
Het |
Pheta2 |
T |
A |
15: 82,227,917 (GRCm39) |
H145Q |
probably benign |
Het |
Pira12 |
A |
T |
7: 3,897,031 (GRCm39) |
S602T |
possibly damaging |
Het |
Pkp1 |
T |
C |
1: 135,807,646 (GRCm39) |
K541E |
probably damaging |
Het |
Plekhh2 |
G |
A |
17: 84,898,992 (GRCm39) |
V990I |
probably benign |
Het |
Ppp1r3a |
A |
T |
6: 14,718,430 (GRCm39) |
V828D |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,098,823 (GRCm39) |
Y712H |
probably damaging |
Het |
Prune2 |
T |
C |
19: 17,098,926 (GRCm39) |
S1477P |
probably benign |
Het |
Psma5 |
A |
G |
3: 108,187,118 (GRCm39) |
K239R |
probably benign |
Het |
Rhobtb1 |
G |
C |
10: 69,106,286 (GRCm39) |
A284P |
probably benign |
Het |
Samsn1 |
G |
A |
16: 75,742,162 (GRCm39) |
|
noncoding transcript |
Het |
Scel |
A |
G |
14: 103,809,478 (GRCm39) |
T273A |
probably benign |
Het |
Slc22a5 |
T |
A |
11: 53,782,444 (GRCm39) |
|
probably benign |
Het |
Slc25a37 |
A |
T |
14: 69,486,953 (GRCm39) |
M110K |
possibly damaging |
Het |
Slc6a2 |
A |
T |
8: 93,708,609 (GRCm39) |
M242L |
probably benign |
Het |
Slc8a3 |
C |
A |
12: 81,246,341 (GRCm39) |
W904L |
probably benign |
Het |
Ss18l1 |
G |
A |
2: 179,696,905 (GRCm39) |
V109I |
probably benign |
Het |
Tbx5 |
C |
T |
5: 119,991,663 (GRCm39) |
H245Y |
probably damaging |
Het |
Thumpd2 |
C |
A |
17: 81,360,342 (GRCm39) |
L244F |
probably damaging |
Het |
Tmem107 |
T |
A |
11: 68,962,241 (GRCm39) |
V66E |
probably damaging |
Het |
Tnr |
T |
C |
1: 159,715,884 (GRCm39) |
V882A |
possibly damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttbk1 |
A |
G |
17: 46,781,733 (GRCm39) |
V340A |
possibly damaging |
Het |
Veph1 |
T |
C |
3: 66,162,481 (GRCm39) |
E59G |
probably damaging |
Het |
Vmn1r234 |
T |
A |
17: 21,449,983 (GRCm39) |
M299K |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,770,610 (GRCm39) |
Y2018H |
probably benign |
Het |
Zbtb11 |
A |
G |
16: 55,818,436 (GRCm39) |
E620G |
probably benign |
Het |
Zfp418 |
A |
G |
7: 7,185,627 (GRCm39) |
H530R |
possibly damaging |
Het |
Zfp764l1 |
C |
T |
7: 126,992,581 (GRCm39) |
A10T |
possibly 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 |
|
R6020:Dzip3
|
UTSW |
16 |
48,772,205 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CATCATTAGACAGGCATTAGGAAG -3'
(R):5'- GTGGGCAGCCAGTCTATAAC -3'
Sequencing Primer
(F):5'- ACAAGGCCCTTGATTTAACTCTCAGG -3'
(R):5'- CTGGTTTCAGTTTGTCCTGTGACATC -3'
|
Posted On |
2018-02-27 |