Incidental Mutation 'R7319:Dzip3'
ID |
568090 |
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 |
045415-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7319 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
48744591-48814505 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 48747903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110161
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114516]
[ENSMUST00000121869]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000121869
|
SMART Domains |
Protein: ENSMUSP00000113344 Gene: ENSMUSG00000064061
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 |
probably null
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 |
|
Meta Mutation Damage Score |
0.9492 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
96% (79/82) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
A |
T |
14: 70,393,635 (GRCm39) |
I287N |
probably benign |
Het |
Aco2 |
G |
T |
15: 81,787,820 (GRCm39) |
E223D |
probably damaging |
Het |
Acsf3 |
T |
A |
8: 123,539,770 (GRCm39) |
I466N |
probably damaging |
Het |
Albfm1 |
G |
A |
5: 90,719,625 (GRCm39) |
|
probably null |
Het |
Aox3 |
T |
A |
1: 58,191,761 (GRCm39) |
F438I |
probably benign |
Het |
Arhgap33 |
T |
C |
7: 30,225,794 (GRCm39) |
T591A |
probably benign |
Het |
Ash1l |
C |
T |
3: 88,888,694 (GRCm39) |
A191V |
probably benign |
Het |
Btg2 |
T |
C |
1: 134,006,779 (GRCm39) |
K5E |
probably benign |
Het |
C1galt1 |
T |
A |
6: 7,871,150 (GRCm39) |
Y329N |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,608,435 (GRCm39) |
I824T |
possibly damaging |
Het |
Carmil3 |
A |
G |
14: 55,731,817 (GRCm39) |
I182V |
probably benign |
Het |
Ccdc150 |
T |
A |
1: 54,302,496 (GRCm39) |
|
probably null |
Het |
Chek1 |
T |
A |
9: 36,633,939 (GRCm39) |
R129W |
probably damaging |
Het |
Chrna6 |
A |
G |
8: 27,896,815 (GRCm39) |
M354T |
possibly damaging |
Het |
Cpq |
A |
G |
15: 33,250,185 (GRCm39) |
T181A |
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,287,472 (GRCm39) |
Y1069F |
|
Het |
Defb28 |
T |
A |
2: 152,361,974 (GRCm39) |
C45S |
possibly damaging |
Het |
Dnah1 |
A |
G |
14: 31,018,551 (GRCm39) |
Y1360H |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,823,608 (GRCm39) |
V3749A |
possibly damaging |
Het |
Dnah7c |
T |
A |
1: 46,819,935 (GRCm39) |
D3728E |
probably benign |
Het |
Dym |
G |
A |
18: 75,196,245 (GRCm39) |
|
probably null |
Het |
Dync2i2 |
G |
A |
2: 29,928,341 (GRCm39) |
P95L |
probably benign |
Het |
Eef1akmt4 |
A |
G |
16: 20,436,666 (GRCm39) |
K163E |
probably benign |
Het |
Fbrs |
A |
G |
7: 127,081,985 (GRCm39) |
T242A |
possibly damaging |
Het |
Fgfr3 |
G |
A |
5: 33,885,146 (GRCm39) |
V87M |
possibly damaging |
Het |
Fst |
A |
T |
13: 114,595,068 (GRCm39) |
C19S |
probably benign |
Het |
Gm7276 |
G |
A |
18: 77,273,216 (GRCm39) |
R173W |
unknown |
Het |
Gm9195 |
G |
A |
14: 72,697,929 (GRCm39) |
H1284Y |
probably benign |
Het |
Herc6 |
C |
A |
6: 57,581,074 (GRCm39) |
T258K |
probably damaging |
Het |
Hip1r |
A |
G |
5: 124,137,174 (GRCm39) |
Y678C |
probably damaging |
Het |
Ifne |
A |
T |
4: 88,798,243 (GRCm39) |
N58K |
probably damaging |
Het |
Ighv1-26 |
A |
T |
12: 114,752,163 (GRCm39) |
H60Q |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,746,520 (GRCm39) |
F1276L |
probably damaging |
Het |
Itprid2 |
A |
T |
2: 79,466,416 (GRCm39) |
D82V |
probably damaging |
Het |
Kcnc4 |
T |
A |
3: 107,366,100 (GRCm39) |
E36V |
probably benign |
Het |
Kcnq2 |
C |
T |
2: 180,750,895 (GRCm39) |
G315S |
probably damaging |
Het |
Kdm4c |
G |
A |
4: 74,255,200 (GRCm39) |
V585M |
probably damaging |
Het |
Klhl26 |
C |
T |
8: 70,905,592 (GRCm39) |
R106H |
probably damaging |
Het |
Kmo |
T |
C |
1: 175,481,221 (GRCm39) |
F313S |
probably damaging |
Het |
Lmtk3 |
T |
A |
7: 45,443,740 (GRCm39) |
S808T |
unknown |
Het |
Lrch3 |
A |
G |
16: 32,815,363 (GRCm39) |
T585A |
probably benign |
Het |
Lrch4 |
T |
A |
5: 137,637,977 (GRCm39) |
H86Q |
|
Het |
Map3k20 |
A |
G |
2: 72,195,062 (GRCm39) |
D113G |
probably damaging |
Het |
Mbd3l1 |
T |
C |
9: 18,396,417 (GRCm39) |
S181P |
probably benign |
Het |
Mccc2 |
T |
C |
13: 100,104,241 (GRCm39) |
T303A |
probably benign |
Het |
Med27 |
A |
G |
2: 29,303,490 (GRCm39) |
R147G |
possibly damaging |
Het |
Mrps5 |
T |
A |
2: 127,437,762 (GRCm39) |
S196R |
possibly damaging |
Het |
Muc21 |
GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG |
GGGGTGGG |
17: 35,932,935 (GRCm39) |
|
probably benign |
Het |
Myo16 |
A |
T |
8: 10,526,185 (GRCm39) |
|
probably null |
Het |
Nudt2 |
A |
T |
4: 41,477,575 (GRCm39) |
M19L |
probably benign |
Het |
Pcdha11 |
C |
T |
18: 37,146,245 (GRCm39) |
P779S |
probably benign |
Het |
Phykpl |
A |
G |
11: 51,489,530 (GRCm39) |
T379A |
probably benign |
Het |
Plekha8 |
A |
C |
6: 54,601,206 (GRCm39) |
M270L |
probably benign |
Het |
Plekhg5 |
A |
G |
4: 152,192,885 (GRCm39) |
H593R |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,637,196 (GRCm39) |
N293S |
possibly damaging |
Het |
Pramel32 |
G |
A |
4: 88,548,184 (GRCm39) |
P74S |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,232,532 (GRCm39) |
N866K |
probably benign |
Het |
Psme4 |
A |
T |
11: 30,757,790 (GRCm39) |
I308L |
probably benign |
Het |
Ptprb |
T |
C |
10: 116,177,309 (GRCm39) |
V1003A |
probably benign |
Het |
Rbbp8 |
T |
A |
18: 11,865,269 (GRCm39) |
D719E |
probably damaging |
Het |
Rnaset2b |
A |
T |
17: 7,259,166 (GRCm39) |
D144V |
probably benign |
Het |
Senp6 |
T |
G |
9: 80,033,481 (GRCm39) |
D662E |
probably damaging |
Het |
Serpinb3c |
T |
C |
1: 107,200,817 (GRCm39) |
N200S |
possibly damaging |
Het |
Serpinb9g |
C |
G |
13: 33,672,543 (GRCm39) |
Y113* |
probably null |
Het |
Sgf29 |
T |
C |
7: 126,270,821 (GRCm39) |
I134T |
probably benign |
Het |
Sh3bp4 |
T |
G |
1: 89,080,824 (GRCm39) |
|
probably null |
Het |
Stab1 |
G |
A |
14: 30,862,783 (GRCm39) |
L2243F |
probably damaging |
Het |
Sympk |
T |
C |
7: 18,769,770 (GRCm39) |
V149A |
probably benign |
Het |
Syt3 |
C |
T |
7: 44,041,953 (GRCm39) |
Q271* |
probably null |
Het |
Tas2r109 |
A |
G |
6: 132,957,663 (GRCm39) |
I89T |
probably benign |
Het |
Tgif1 |
A |
G |
17: 71,151,847 (GRCm39) |
S255P |
probably damaging |
Het |
Tm9sf1 |
G |
A |
14: 55,875,432 (GRCm39) |
|
probably benign |
Het |
Tnf |
A |
G |
17: 35,419,347 (GRCm39) |
F161S |
possibly damaging |
Het |
Topaz1 |
T |
A |
9: 122,579,428 (GRCm39) |
S779R |
possibly damaging |
Het |
Topors |
A |
G |
4: 40,260,540 (GRCm39) |
S915P |
unknown |
Het |
Tpm4 |
C |
T |
8: 72,900,321 (GRCm39) |
L161F |
probably damaging |
Het |
Trim38 |
C |
T |
13: 23,975,384 (GRCm39) |
T441I |
probably damaging |
Het |
Trpv1 |
A |
G |
11: 73,141,620 (GRCm39) |
M548V |
probably benign |
Het |
Vmn2r68 |
T |
A |
7: 84,883,042 (GRCm39) |
T237S |
probably benign |
Het |
Zc3hav1 |
A |
G |
6: 38,309,209 (GRCm39) |
S538P |
probably benign |
Het |
Zfp541 |
C |
T |
7: 15,813,294 (GRCm39) |
T649I |
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 |
|
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 |
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'- AAATCTCCAGGCTGTCCTCC -3'
(R):5'- TGGTGAGACCGAACTTATTAACTG -3'
Sequencing Primer
(F):5'- GGCTGTCCTCCTGAAAAACAGTAG -3'
(R):5'- CTGTAAACACATTTAGGTCTGAGAGG -3'
|
Posted On |
2019-06-26 |