Incidental Mutation 'R9157:Dzip3'
| ID |
695473 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
48744591-48814505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 48748124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 918
(G918D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114516]
[ENSMUST00000121869]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114516
AA Change: G918D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061
AA Change: G918D
| 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 benign
Transcript: ENSMUST00000121869
AA Change: G1124D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
AA Change: G1124D
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000117675
Gene: ENSMUSG00000064061
AA Change: G116D
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,207,220 (GRCm39) |
T324A |
probably benign |
Het |
| Adam9 |
A |
T |
8: 25,493,331 (GRCm39) |
F92L |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,411,624 (GRCm39) |
T376A |
probably damaging |
Het |
| Aff3 |
A |
C |
1: 38,249,559 (GRCm39) |
I516S |
probably benign |
Het |
| Bdp1 |
C |
T |
13: 100,186,436 (GRCm39) |
S1672N |
probably benign |
Het |
| Btc |
A |
T |
5: 91,513,980 (GRCm39) |
I94N |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,096,520 (GRCm39) |
V1526A |
probably benign |
Het |
| Ccdc47 |
A |
T |
11: 106,093,208 (GRCm39) |
|
probably null |
Het |
| Ceacam5 |
A |
T |
7: 17,493,419 (GRCm39) |
Y814F |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,707,185 (GRCm39) |
R1223W |
probably damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,166,316 (GRCm39) |
M779T |
probably benign |
Het |
| Cfap20dc |
T |
A |
14: 8,518,635 (GRCm38) |
T274S |
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,102,452 (GRCm39) |
I986T |
probably damaging |
Het |
| Dhx40 |
A |
T |
11: 86,662,050 (GRCm39) |
I669N |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,987,970 (GRCm39) |
I3483F |
probably damaging |
Het |
| Fam185a |
T |
G |
5: 21,660,837 (GRCm39) |
V284G |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 25,218,651 (GRCm39) |
S805P |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,980 (GRCm39) |
N856S |
probably benign |
Het |
| Gm12887 |
C |
T |
4: 121,473,701 (GRCm39) |
V50M |
probably benign |
Het |
| Gm45785 |
T |
C |
7: 140,398,616 (GRCm39) |
I94V |
unknown |
Het |
| Gm9195 |
A |
G |
14: 72,692,038 (GRCm39) |
I1616T |
unknown |
Het |
| Grm4 |
T |
A |
17: 27,653,956 (GRCm39) |
I665F |
probably benign |
Het |
| Hcls1 |
C |
T |
16: 36,777,000 (GRCm39) |
A230V |
probably benign |
Het |
| Hic1 |
A |
G |
11: 75,057,053 (GRCm39) |
L612P |
possibly damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,522,343 (GRCm39) |
V3519G |
probably benign |
Het |
| Hmgcs1 |
A |
G |
13: 120,165,963 (GRCm39) |
Y360C |
probably benign |
Het |
| Hspa12a |
A |
T |
19: 58,789,292 (GRCm39) |
M448K |
possibly damaging |
Het |
| Htt |
T |
G |
5: 34,987,171 (GRCm39) |
I1130S |
probably null |
Het |
| Irx3 |
A |
G |
8: 92,527,694 (GRCm39) |
Y59H |
probably damaging |
Het |
| Klc4 |
A |
G |
17: 46,950,361 (GRCm39) |
L280P |
probably damaging |
Het |
| Lrp1 |
G |
T |
10: 127,410,209 (GRCm39) |
N1512K |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Marco |
T |
C |
1: 120,421,814 (GRCm39) |
E130G |
probably damaging |
Het |
| Mdga1 |
G |
A |
17: 30,057,491 (GRCm39) |
T775M |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,988,804 (GRCm39) |
L184Q |
probably damaging |
Het |
| Msi2 |
A |
C |
11: 88,608,889 (GRCm39) |
S10A |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
| Ngfr |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 95,478,316 (GRCm39) |
|
probably benign |
Het |
| Nradd |
A |
G |
9: 110,451,188 (GRCm39) |
L60P |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,188,456 (GRCm39) |
Y39C |
probably benign |
Het |
| Odf2 |
G |
T |
2: 29,816,815 (GRCm39) |
G754C |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,214 (GRCm39) |
M60L |
probably damaging |
Het |
| Or12d15 |
A |
G |
17: 37,694,183 (GRCm39) |
M242V |
probably benign |
Het |
| Or13d1 |
A |
G |
4: 52,971,419 (GRCm39) |
Y266C |
possibly damaging |
Het |
| Or4b1 |
A |
G |
2: 89,979,522 (GRCm39) |
I276T |
possibly damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,382,468 (GRCm39) |
P222S |
probably benign |
Het |
| Pcdhga3 |
T |
C |
18: 37,809,229 (GRCm39) |
Y561H |
probably benign |
Het |
| Phykpl |
G |
A |
11: 51,490,375 (GRCm39) |
V419I |
probably benign |
Het |
| Pskh1 |
A |
G |
8: 106,640,142 (GRCm39) |
Y274C |
possibly damaging |
Het |
| Rap1gap |
G |
T |
4: 137,444,742 (GRCm39) |
V219F |
probably damaging |
Het |
| Rapgef4 |
C |
A |
2: 72,005,212 (GRCm39) |
H220N |
probably benign |
Het |
| Rcor3 |
G |
T |
1: 191,810,181 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Reg3d |
T |
C |
6: 78,354,422 (GRCm39) |
T60A |
possibly damaging |
Het |
| Rgs9 |
T |
A |
11: 109,116,549 (GRCm39) |
D644V |
probably damaging |
Het |
| Rhob |
T |
A |
12: 8,549,319 (GRCm39) |
H105L |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,101,892 (GRCm39) |
K115E |
probably damaging |
Het |
| Rsf1 |
GG |
GGGGACGGCCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scn4b |
T |
A |
9: 45,058,013 (GRCm39) |
V35E |
probably damaging |
Het |
| Serpina3i |
T |
C |
12: 104,231,672 (GRCm39) |
I103T |
probably damaging |
Het |
| Sidt2 |
T |
C |
9: 45,852,658 (GRCm39) |
T776A |
possibly damaging |
Het |
| Slc15a1 |
T |
C |
14: 121,702,389 (GRCm39) |
I586V |
probably benign |
Het |
| Slc15a5 |
A |
T |
6: 137,961,456 (GRCm39) |
V213E |
|
Het |
| Stard13 |
C |
A |
5: 151,157,152 (GRCm39) |
A10S |
probably benign |
Het |
| Taf6 |
C |
A |
5: 138,179,221 (GRCm39) |
V406F |
possibly damaging |
Het |
| Tap2 |
G |
T |
17: 34,431,004 (GRCm39) |
R368L |
possibly damaging |
Het |
| Tmem236 |
T |
C |
2: 14,223,889 (GRCm39) |
V226A |
probably benign |
Het |
| Tmem87a |
T |
A |
2: 120,210,093 (GRCm39) |
I287F |
possibly damaging |
Het |
| Ttll13 |
A |
T |
7: 79,904,428 (GRCm39) |
K351I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,581,245 (GRCm39) |
Y23216F |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,201,244 (GRCm39) |
T238A |
probably benign |
Het |
| Vmn2r54 |
T |
C |
7: 12,366,055 (GRCm39) |
Y293C |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,112,948 (GRCm39) |
S69P |
|
Het |
| Wdr83 |
G |
A |
8: 85,806,432 (GRCm39) |
T122I |
probably damaging |
Het |
| Zfp219 |
A |
G |
14: 52,246,200 (GRCm39) |
V309A |
probably damaging |
Het |
| Zfp354a |
C |
T |
11: 50,960,788 (GRCm39) |
S332F |
probably damaging |
Het |
| Zfp354b |
T |
C |
11: 50,813,887 (GRCm39) |
N346S |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2022-01-20 |
Incidental Mutation