Incidental Mutation 'R7436:Dzip3'
ID |
580579 |
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 |
045512-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7436 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
48744591-48814505 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 48772352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 439
(H439L)
|
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: H439L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113344 Gene: ENSMUSG00000064061 AA Change: H439L
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
97% (66/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024B05Rik |
A |
G |
14: 41,805,178 (GRCm39) |
|
probably null |
Het |
2310034C09Rik |
A |
G |
16: 88,556,242 (GRCm39) |
Y152C |
probably benign |
Het |
Acads |
C |
A |
5: 115,249,057 (GRCm39) |
Q365H |
probably damaging |
Het |
Akap1 |
A |
G |
11: 88,736,354 (GRCm39) |
S103P |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 102,981,435 (GRCm39) |
|
probably null |
Het |
Apoa1 |
T |
A |
9: 46,141,100 (GRCm39) |
|
probably null |
Het |
Asb16 |
A |
G |
11: 102,163,481 (GRCm39) |
D157G |
possibly damaging |
Het |
Bank1 |
T |
C |
3: 135,761,561 (GRCm39) |
N748D |
possibly damaging |
Het |
BC034090 |
C |
A |
1: 155,102,127 (GRCm39) |
G46W |
probably damaging |
Het |
Ccdc202 |
A |
T |
14: 96,120,027 (GRCm39) |
K261N |
probably benign |
Het |
Ccdc73 |
T |
A |
2: 104,782,214 (GRCm39) |
V190E |
probably damaging |
Het |
Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
Cyb561a3 |
A |
G |
19: 10,559,696 (GRCm39) |
Y7C |
probably damaging |
Het |
Cyp2t4 |
A |
T |
7: 26,857,668 (GRCm39) |
D427V |
probably damaging |
Het |
Cyp4f14 |
T |
C |
17: 33,128,131 (GRCm39) |
T295A |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,087,447 (GRCm39) |
T510A |
probably benign |
Het |
Dennd6a |
G |
T |
14: 26,300,865 (GRCm39) |
E26* |
probably null |
Het |
Dusp10 |
T |
C |
1: 183,801,418 (GRCm39) |
I395T |
probably damaging |
Het |
Heatr5b |
T |
A |
17: 79,075,962 (GRCm39) |
D1452V |
probably benign |
Het |
Hsd3b2 |
A |
G |
3: 98,619,112 (GRCm39) |
F278L |
probably benign |
Het |
Hspg2 |
T |
A |
4: 137,242,975 (GRCm39) |
M702K |
probably damaging |
Het |
Hydin |
T |
C |
8: 111,310,546 (GRCm39) |
F4081L |
probably damaging |
Het |
Ido1 |
T |
G |
8: 25,076,932 (GRCm39) |
T209P |
probably benign |
Het |
Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
Ipo8 |
T |
C |
6: 148,691,303 (GRCm39) |
Y689C |
probably benign |
Het |
Macf1 |
C |
T |
4: 123,350,436 (GRCm39) |
R3809Q |
probably benign |
Het |
Manea |
T |
C |
4: 26,328,228 (GRCm39) |
Y271C |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,971,036 (GRCm39) |
T1014A |
probably benign |
Het |
Nek5 |
A |
G |
8: 22,598,056 (GRCm39) |
F200L |
probably damaging |
Het |
Nipal1 |
A |
G |
5: 72,824,984 (GRCm39) |
I226V |
probably benign |
Het |
Nipsnap3a |
A |
T |
4: 52,994,159 (GRCm39) |
N80I |
probably damaging |
Het |
Nmur1 |
G |
A |
1: 86,314,100 (GRCm39) |
P389S |
probably benign |
Het |
Or10d5 |
G |
T |
9: 39,861,349 (GRCm39) |
C239* |
probably null |
Het |
Or1p1 |
T |
C |
11: 74,179,511 (GRCm39) |
L13P |
possibly damaging |
Het |
Or8u10 |
T |
C |
2: 85,915,251 (GRCm39) |
Y290C |
probably damaging |
Het |
Patl2 |
A |
C |
2: 121,958,006 (GRCm39) |
V84G |
probably benign |
Het |
Pcdhb4 |
T |
C |
18: 37,442,328 (GRCm39) |
V546A |
probably damaging |
Het |
Phf20l1 |
G |
T |
15: 66,469,599 (GRCm39) |
S168I |
possibly damaging |
Het |
Phgdh |
T |
C |
3: 98,247,045 (GRCm39) |
N35S |
probably benign |
Het |
Pigw |
A |
T |
11: 84,768,789 (GRCm39) |
M180K |
probably damaging |
Het |
Pkhd1 |
G |
T |
1: 20,270,925 (GRCm39) |
H3209Q |
probably benign |
Het |
Plbd2 |
A |
G |
5: 120,624,861 (GRCm39) |
F436L |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,068,553 (GRCm39) |
T1358A |
probably benign |
Het |
Poll |
C |
T |
19: 45,541,496 (GRCm39) |
V491M |
probably damaging |
Het |
Polr1e |
A |
G |
4: 45,024,553 (GRCm39) |
|
probably null |
Het |
Ppp1r35 |
G |
A |
5: 137,778,279 (GRCm39) |
W258* |
probably null |
Het |
Ptpdc1 |
A |
T |
13: 48,740,142 (GRCm39) |
F430I |
probably benign |
Het |
Ptprh |
T |
C |
7: 4,555,742 (GRCm39) |
E739G |
probably damaging |
Het |
Ramp2 |
T |
C |
11: 101,138,765 (GRCm39) |
V148A |
possibly damaging |
Het |
Rapgef6 |
T |
C |
11: 54,501,747 (GRCm39) |
|
probably null |
Het |
Rbm5 |
A |
G |
9: 107,627,593 (GRCm39) |
|
probably null |
Het |
Rnf39 |
A |
T |
17: 37,254,241 (GRCm39) |
S88C |
probably benign |
Het |
Rpl12 |
A |
G |
2: 32,853,836 (GRCm39) |
I155V |
probably benign |
Het |
Scart2 |
A |
T |
7: 139,841,520 (GRCm39) |
T275S |
probably benign |
Het |
Senp5 |
C |
T |
16: 31,794,847 (GRCm39) |
E596K |
unknown |
Het |
Serpinb9d |
A |
G |
13: 33,379,916 (GRCm39) |
Y85C |
probably benign |
Het |
Serpinf1 |
T |
A |
11: 75,307,142 (GRCm39) |
Y65F |
probably benign |
Het |
Snrnp200 |
G |
A |
2: 127,068,404 (GRCm39) |
|
probably null |
Het |
Spatc1 |
A |
T |
15: 76,152,568 (GRCm39) |
Q66L |
probably benign |
Het |
Tet3 |
TGGCCCAGGCCCAGGC |
TGGCCCAGGCCCAGGCCCAGGC |
6: 83,345,211 (GRCm39) |
|
probably benign |
Het |
Traf3ip1 |
A |
G |
1: 91,439,110 (GRCm39) |
D342G |
probably benign |
Het |
Txk |
T |
A |
5: 72,853,922 (GRCm39) |
T472S |
probably damaging |
Het |
Ube2j2 |
T |
C |
4: 156,041,788 (GRCm39) |
V249A |
probably damaging |
Het |
Utrn |
A |
C |
10: 12,315,535 (GRCm39) |
N3025K |
possibly damaging |
Het |
Vmn1r17 |
T |
A |
6: 57,337,862 (GRCm39) |
M168L |
probably benign |
Het |
Vmn1r77 |
T |
A |
7: 11,775,694 (GRCm39) |
S157T |
probably benign |
Het |
Zfp977 |
A |
G |
7: 42,229,884 (GRCm39) |
S214P |
probably benign |
Het |
Zscan10 |
T |
C |
17: 23,828,979 (GRCm39) |
L507P |
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 |
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 |
|
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'- AGATCAGAAGATGGTGGTTCC -3'
(R):5'- CCTTAGGGTGCAATGTGAGAG -3'
Sequencing Primer
(F):5'- GGTGGTTCCATATCCCAGC -3'
(R):5'- CCTTAGGGTGCAATGTGAGAGACTAC -3'
|
Posted On |
2019-10-07 |