Incidental Mutation 'R4671:Dzip3'
ID |
348466 |
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 # |
R4671 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
48744591-48814505 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 48799953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 112
(Q112*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114516]
[ENSMUST00000121869]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000114516
AA Change: Q112*
|
SMART Domains |
Protein: ENSMUSP00000110161 Gene: ENSMUSG00000064061 AA Change: Q112*
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 null
Transcript: ENSMUST00000121869
AA Change: Q112*
|
SMART Domains |
Protein: ENSMUSP00000113344 Gene: ENSMUSG00000064061 AA Change: Q112*
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
C |
19: 43,789,157 (GRCm39) |
S271P |
probably benign |
Het |
Acod1 |
T |
G |
14: 103,284,508 (GRCm39) |
M2R |
probably benign |
Het |
Adamts20 |
T |
C |
15: 94,301,206 (GRCm39) |
E106G |
possibly damaging |
Het |
Adgra3 |
G |
A |
5: 50,136,710 (GRCm39) |
T661M |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,229,312 (GRCm39) |
C161* |
probably null |
Het |
Akr1c12 |
A |
C |
13: 4,323,816 (GRCm39) |
S162A |
possibly damaging |
Het |
Anks1 |
C |
A |
17: 28,270,552 (GRCm39) |
H805N |
probably benign |
Het |
Arhgap22 |
T |
C |
14: 33,084,500 (GRCm39) |
C260R |
probably damaging |
Het |
Banf1 |
T |
C |
19: 5,415,872 (GRCm39) |
R33G |
probably benign |
Het |
Bcas1 |
T |
C |
2: 170,226,245 (GRCm39) |
K310R |
probably damaging |
Het |
Cacna1c |
G |
T |
6: 118,629,019 (GRCm39) |
H1240N |
probably damaging |
Het |
Cartpt |
C |
T |
13: 100,036,588 (GRCm39) |
|
probably null |
Het |
Ccdc127 |
T |
A |
13: 74,505,164 (GRCm39) |
Y237* |
probably null |
Het |
Ccnb1ip1 |
A |
T |
14: 51,029,734 (GRCm39) |
Y109* |
probably null |
Het |
Cenpj |
A |
T |
14: 56,790,840 (GRCm39) |
V403E |
possibly damaging |
Het |
Cps1 |
A |
G |
1: 67,235,719 (GRCm39) |
Y951C |
probably damaging |
Het |
Dcakd |
T |
C |
11: 102,890,634 (GRCm39) |
E51G |
possibly damaging |
Het |
Dennd4a |
A |
T |
9: 64,801,689 (GRCm39) |
N944I |
probably benign |
Het |
Dus3l |
C |
T |
17: 57,075,566 (GRCm39) |
R430C |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,169,640 (GRCm39) |
L279P |
possibly damaging |
Het |
Eif1ad |
T |
A |
19: 5,418,219 (GRCm39) |
M1K |
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fancg |
T |
C |
4: 43,005,272 (GRCm39) |
E366G |
probably benign |
Het |
Gin1 |
C |
T |
1: 97,712,565 (GRCm39) |
P154S |
probably damaging |
Het |
Gm11938 |
A |
T |
11: 99,493,832 (GRCm39) |
C88S |
possibly damaging |
Het |
Gpr183 |
T |
C |
14: 122,192,149 (GRCm39) |
D124G |
probably damaging |
Het |
Gucy2g |
T |
A |
19: 55,226,500 (GRCm39) |
I139F |
probably damaging |
Het |
Iqub |
A |
T |
6: 24,479,183 (GRCm39) |
M453K |
probably benign |
Het |
Jcad |
A |
G |
18: 4,674,175 (GRCm39) |
T646A |
probably benign |
Het |
Kif23 |
A |
T |
9: 61,852,641 (GRCm39) |
D24E |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,571,175 (GRCm39) |
N845S |
probably damaging |
Het |
Lhx5 |
G |
A |
5: 120,578,032 (GRCm39) |
S284N |
probably benign |
Het |
Lipf |
T |
G |
19: 33,954,076 (GRCm39) |
V389G |
possibly damaging |
Het |
Lrrc7 |
C |
T |
3: 157,908,132 (GRCm39) |
|
probably null |
Het |
Magi1 |
A |
G |
6: 93,657,768 (GRCm39) |
|
probably null |
Het |
Mast2 |
A |
G |
4: 116,165,847 (GRCm39) |
S1287P |
probably damaging |
Het |
Mepce |
C |
T |
5: 137,784,905 (GRCm39) |
|
probably benign |
Het |
Mkrn1 |
A |
G |
6: 39,382,691 (GRCm39) |
V173A |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
Naip6 |
A |
G |
13: 100,431,239 (GRCm39) |
|
probably null |
Het |
Nsmce3 |
A |
T |
7: 64,522,530 (GRCm39) |
L46Q |
probably benign |
Het |
Or1n2 |
G |
A |
2: 36,797,405 (GRCm39) |
C149Y |
probably benign |
Het |
Or2j6 |
T |
G |
7: 139,980,218 (GRCm39) |
Y247S |
probably damaging |
Het |
Or4k44 |
A |
T |
2: 111,368,280 (GRCm39) |
M118K |
probably damaging |
Het |
Or51e2 |
A |
G |
7: 102,391,808 (GRCm39) |
V134A |
probably damaging |
Het |
Or56a3b |
T |
C |
7: 104,771,513 (GRCm39) |
L283P |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,678,691 (GRCm39) |
F426L |
probably benign |
Het |
Pcf11 |
A |
T |
7: 92,306,737 (GRCm39) |
S1144T |
possibly damaging |
Het |
Prpf3 |
T |
A |
3: 95,758,976 (GRCm39) |
T59S |
possibly damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptk7 |
A |
G |
17: 46,885,392 (GRCm39) |
V678A |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,511,116 (GRCm39) |
L331S |
probably damaging |
Het |
Relch |
A |
G |
1: 105,646,584 (GRCm39) |
I637V |
probably benign |
Het |
Sell |
A |
G |
1: 163,893,042 (GRCm39) |
Y86C |
probably damaging |
Het |
Serpina1e |
G |
A |
12: 103,914,341 (GRCm39) |
R328W |
probably damaging |
Het |
Sertad3 |
T |
G |
7: 27,176,091 (GRCm39) |
L175R |
possibly damaging |
Het |
Stard9 |
G |
T |
2: 120,529,121 (GRCm39) |
G1793W |
probably damaging |
Het |
Stra6 |
T |
C |
9: 58,056,517 (GRCm39) |
I383T |
probably benign |
Het |
Tcf7l1 |
A |
G |
6: 72,626,161 (GRCm39) |
L154P |
probably damaging |
Het |
Tent5c |
C |
A |
3: 100,380,515 (GRCm39) |
L80F |
probably benign |
Het |
Tonsl |
A |
T |
15: 76,507,610 (GRCm39) |
D55E |
probably benign |
Het |
Ttc21b |
A |
G |
2: 66,057,257 (GRCm39) |
S572P |
possibly damaging |
Het |
Ttc7 |
T |
A |
17: 87,654,048 (GRCm39) |
L575Q |
probably damaging |
Het |
Ubl4b |
C |
T |
3: 107,462,194 (GRCm39) |
S22N |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,163,502 (GRCm39) |
V2634A |
possibly damaging |
Het |
Zbed6 |
A |
G |
1: 133,584,778 (GRCm39) |
V853A |
probably benign |
Het |
Zfp46 |
A |
C |
4: 136,017,484 (GRCm39) |
D106A |
probably damaging |
Het |
Zfp951 |
A |
C |
5: 104,962,567 (GRCm39) |
I333S |
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 |
|
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 |
|
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'- AACTGGAATGTCTAGTCCCAC -3'
(R):5'- TATGCGTGCTAGAAAGTGGG -3'
Sequencing Primer
(F):5'- GGAATGTCTAGTCCCACTAGTTGAAG -3'
(R):5'- GTTTGTGTTGTGTTAAGGAAATACC -3'
|
Posted On |
2015-10-08 |