Incidental Mutation 'R8750:Dzip3'
| ID |
663805 |
| 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 |
068593-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8750 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
48744591-48814505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 48801338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 62
(I62S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114516]
[ENSMUST00000121869]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114516
AA Change: I62S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061
AA Change: I62S
| 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: I62S
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
AA Change: I62S
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
G |
A |
12: 81,607,247 (GRCm39) |
Q172* |
probably null |
Het |
| Ankib1 |
A |
G |
5: 3,752,890 (GRCm39) |
|
probably null |
Het |
| Avpr1b |
C |
T |
1: 131,527,674 (GRCm39) |
R66C |
probably damaging |
Het |
| Bbs7 |
A |
T |
3: 36,661,744 (GRCm39) |
C152S |
possibly damaging |
Het |
| Cacna1a |
C |
A |
8: 85,285,784 (GRCm39) |
R810S |
probably damaging |
Het |
| Ccdc17 |
G |
A |
4: 116,457,129 (GRCm39) |
A538T |
possibly damaging |
Het |
| Cd93 |
T |
C |
2: 148,285,080 (GRCm39) |
M89V |
probably benign |
Het |
| Clec11a |
G |
T |
7: 43,955,323 (GRCm39) |
D157E |
probably benign |
Het |
| Crtam |
A |
C |
9: 40,895,641 (GRCm39) |
D228E |
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,209 (GRCm39) |
I331V |
probably benign |
Het |
| Cysltr2 |
T |
C |
14: 73,267,078 (GRCm39) |
I211V |
probably benign |
Het |
| Dcaf13 |
T |
C |
15: 38,982,836 (GRCm39) |
S123P |
probably damaging |
Het |
| Dctn1 |
T |
G |
6: 83,160,108 (GRCm39) |
V116G |
possibly damaging |
Het |
| Dmrt3 |
G |
A |
19: 25,588,550 (GRCm39) |
A130T |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,026,924 (GRCm39) |
L700Q |
probably benign |
Het |
| Dnajc1 |
T |
C |
2: 18,313,645 (GRCm39) |
T159A |
probably damaging |
Het |
| Dpyd |
C |
T |
3: 118,935,585 (GRCm39) |
S670L |
probably damaging |
Het |
| Dsg2 |
A |
T |
18: 20,708,069 (GRCm39) |
I57F |
possibly damaging |
Het |
| Ern1 |
A |
T |
11: 106,312,776 (GRCm39) |
S202T |
probably damaging |
Het |
| Foxm1 |
T |
A |
6: 128,350,206 (GRCm39) |
C517* |
probably null |
Het |
| Galnt16 |
G |
A |
12: 80,644,879 (GRCm39) |
V501I |
probably benign |
Het |
| Gmip |
A |
T |
8: 70,273,134 (GRCm39) |
R840S |
probably benign |
Het |
| Gna14 |
A |
C |
19: 16,585,458 (GRCm39) |
I279L |
|
Het |
| Irak2 |
T |
C |
6: 113,663,783 (GRCm39) |
M444T |
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,389,755 (GRCm39) |
|
probably null |
Het |
| Kif5a |
T |
A |
10: 127,083,909 (GRCm39) |
H94L |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,698,215 (GRCm39) |
T636A |
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,382,212 (GRCm39) |
S152P |
probably damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,300,822 (GRCm39) |
M25L |
probably benign |
Het |
| Map7d1 |
T |
C |
4: 126,132,315 (GRCm39) |
N286D |
probably benign |
Het |
| Mfrp |
A |
G |
9: 44,014,802 (GRCm39) |
K280E |
probably benign |
Het |
| Mlh3 |
G |
T |
12: 85,308,488 (GRCm39) |
L1100I |
probably damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,131,778 (GRCm39) |
I347V |
probably benign |
Het |
| Mtnr1b |
A |
T |
9: 15,785,724 (GRCm39) |
C11* |
probably null |
Het |
| Mx1 |
T |
C |
16: 97,252,917 (GRCm39) |
E401G |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,003,036 (GRCm39) |
D367G |
probably benign |
Het |
| Nherf2 |
T |
C |
17: 24,861,233 (GRCm39) |
I176V |
probably damaging |
Het |
| Or52a33 |
T |
A |
7: 103,289,059 (GRCm39) |
D96V |
probably damaging |
Het |
| Or6c5b |
T |
C |
10: 129,245,649 (GRCm39) |
V138A |
probably benign |
Het |
| Or8s8 |
T |
G |
15: 98,354,929 (GRCm39) |
I246R |
probably damaging |
Het |
| Or9g19 |
T |
A |
2: 85,600,307 (GRCm39) |
L54H |
probably damaging |
Het |
| Plcb1 |
T |
G |
2: 135,177,369 (GRCm39) |
M567R |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,752,861 (GRCm39) |
D109V |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 79,875,424 (GRCm39) |
I17T |
probably benign |
Het |
| Pot1b |
T |
C |
17: 55,973,537 (GRCm39) |
D421G |
probably benign |
Het |
| Prkar1b |
A |
T |
5: 139,036,451 (GRCm39) |
W224R |
probably damaging |
Het |
| Psmd1 |
C |
A |
1: 86,016,585 (GRCm39) |
R490S |
probably damaging |
Het |
| Pwp2 |
A |
G |
10: 78,013,659 (GRCm39) |
W521R |
probably damaging |
Het |
| Rhpn2 |
C |
A |
7: 35,075,680 (GRCm39) |
Q286K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,486,602 (GRCm39) |
M411K |
probably benign |
Het |
| Scpep1 |
A |
C |
11: 88,835,298 (GRCm39) |
V125G |
probably damaging |
Het |
| Serpinb9c |
C |
T |
13: 33,335,793 (GRCm39) |
V248M |
probably null |
Het |
| Snx15 |
T |
A |
19: 6,170,593 (GRCm39) |
N282I |
probably benign |
Het |
| Spaca3 |
A |
T |
11: 80,758,514 (GRCm39) |
D159V |
probably benign |
Het |
| Srrm4 |
A |
G |
5: 116,605,567 (GRCm39) |
V230A |
unknown |
Het |
| Ssu2 |
T |
A |
6: 112,359,312 (GRCm39) |
I103F |
possibly damaging |
Het |
| Strip2 |
T |
A |
6: 29,931,815 (GRCm39) |
F453I |
probably damaging |
Het |
| Tac2 |
C |
T |
10: 127,564,319 (GRCm39) |
P72L |
possibly damaging |
Het |
| Tiparp |
T |
G |
3: 65,460,125 (GRCm39) |
S473R |
probably damaging |
Het |
| Tmem135 |
C |
T |
7: 88,956,456 (GRCm39) |
R53Q |
probably damaging |
Het |
| Tmem200b |
T |
A |
4: 131,649,406 (GRCm39) |
F109I |
probably damaging |
Het |
| Tmem245 |
A |
T |
4: 56,886,141 (GRCm39) |
I825N |
probably damaging |
Het |
| Tmem63c |
G |
T |
12: 87,103,306 (GRCm39) |
V27F |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,033,162 (GRCm39) |
I415M |
probably damaging |
Het |
| Tut4 |
C |
G |
4: 108,407,940 (GRCm39) |
A1403G |
probably damaging |
Het |
| Wfdc2 |
T |
A |
2: 164,407,818 (GRCm39) |
N162K |
probably damaging |
Het |
| Zeb2 |
T |
A |
2: 44,887,939 (GRCm39) |
I373F |
probably damaging |
Het |
| Zfp27 |
T |
C |
7: 29,594,804 (GRCm39) |
N387S |
possibly damaging |
Het |
| Zfp760 |
A |
T |
17: 21,941,356 (GRCm39) |
H177L |
possibly damaging |
Het |
| Zg16 |
A |
G |
7: 126,649,518 (GRCm39) |
S148P |
possibly damaging |
Het |
| Zic2 |
A |
G |
14: 122,714,129 (GRCm39) |
N348D |
probably benign |
Het |
| Zswim4 |
A |
T |
8: 84,939,313 (GRCm39) |
D856E |
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 |
|
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'- CCAGGTTGACAGCAAAACG -3'
(R):5'- CCAATGTTTTCCTACTAAGGTGTAG -3'
Sequencing Primer
(F):5'- CCAGGTTGACAGCAAAACGTTTTC -3'
(R):5'- ATGGTTCGATCCGTATACACAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation