Incidental Mutation 'R6365:Dzip3'
| ID |
512663 |
| 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 |
044515-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6365 (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 48751636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 764
(R764S)
|
| 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: R764S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110161
Gene: ENSMUSG00000064061
AA Change: R764S
| 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: R970S
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113344
Gene: ENSMUSG00000064061
AA Change: R970S
| 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 |
noncoding transcript
Transcript: ENSMUST00000123961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147358
|
| Predicted Effect |
probably benign
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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
| Validation Efficiency |
98% (57/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
T |
5: 113,330,510 (GRCm39) |
R1235S |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,036,481 (GRCm39) |
I543F |
possibly damaging |
Het |
| Acot6 |
A |
G |
12: 84,156,186 (GRCm39) |
E378G |
probably benign |
Het |
| Adam30 |
T |
C |
3: 98,068,350 (GRCm39) |
L61S |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,679,983 (GRCm39) |
L227Q |
probably benign |
Het |
| Ap5m1 |
T |
C |
14: 49,316,285 (GRCm39) |
I285T |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,599,979 (GRCm39) |
Y497H |
probably benign |
Het |
| Bace1 |
C |
T |
9: 45,765,974 (GRCm39) |
Q17* |
probably null |
Het |
| Calcr |
T |
C |
6: 3,711,455 (GRCm39) |
I189V |
probably benign |
Het |
| Cd48 |
A |
T |
1: 171,509,732 (GRCm39) |
Q24L |
probably null |
Het |
| Cnga1 |
T |
C |
5: 72,762,288 (GRCm39) |
I409V |
probably benign |
Het |
| Ctsd |
G |
A |
7: 141,939,314 (GRCm39) |
T37M |
probably benign |
Het |
| Cyp2c29 |
T |
C |
19: 39,296,198 (GRCm39) |
S171P |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,325,983 (GRCm39) |
S197R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Drd2 |
A |
T |
9: 49,318,249 (GRCm39) |
N397I |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,231,008 (GRCm39) |
E3045G |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,815,412 (GRCm39) |
E3247G |
unknown |
Het |
| Exosc10 |
T |
C |
4: 148,645,562 (GRCm39) |
V114A |
probably benign |
Het |
| Fam234a |
C |
A |
17: 26,439,429 (GRCm39) |
E32* |
probably null |
Het |
| Fbxw11 |
C |
A |
11: 32,670,623 (GRCm39) |
D162E |
possibly damaging |
Het |
| Fcho2 |
A |
T |
13: 98,926,367 (GRCm39) |
M72K |
probably benign |
Het |
| Fech |
T |
C |
18: 64,591,251 (GRCm39) |
N391S |
probably benign |
Het |
| Foxp2 |
T |
C |
6: 15,286,684 (GRCm39) |
L58P |
probably damaging |
Het |
| Gdi2 |
A |
G |
13: 3,615,093 (GRCm39) |
D430G |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,363,226 (GRCm39) |
C763Y |
probably damaging |
Het |
| H2bc6 |
C |
T |
13: 23,769,641 (GRCm39) |
R100H |
probably benign |
Het |
| Hibch |
T |
A |
1: 52,908,096 (GRCm39) |
|
probably null |
Het |
| Ifi44l |
C |
T |
3: 151,467,142 (GRCm39) |
V63I |
unknown |
Het |
| Igf1r |
G |
T |
7: 67,839,798 (GRCm39) |
A702S |
probably benign |
Het |
| Kctd13 |
G |
A |
7: 126,529,862 (GRCm39) |
R101Q |
probably damaging |
Het |
| Klhl33 |
T |
C |
14: 51,129,294 (GRCm39) |
D645G |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,680,961 (GRCm39) |
T74A |
probably benign |
Het |
| Myo1f |
A |
G |
17: 33,805,090 (GRCm39) |
S453G |
probably benign |
Het |
| Naxe |
A |
G |
3: 87,965,298 (GRCm39) |
V105A |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,853,201 (GRCm39) |
Y1140C |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,288,518 (GRCm39) |
T665A |
probably benign |
Het |
| Or51l4 |
T |
A |
7: 103,404,402 (GRCm39) |
H130L |
probably benign |
Het |
| Otud7b |
T |
G |
3: 96,062,567 (GRCm39) |
I602S |
probably benign |
Het |
| Pakap |
G |
T |
4: 57,709,675 (GRCm39) |
G207* |
probably null |
Het |
| Papolg |
T |
C |
11: 23,832,290 (GRCm39) |
D166G |
probably damaging |
Het |
| Pbx4 |
T |
G |
8: 70,324,857 (GRCm39) |
|
probably null |
Het |
| Pdcd4 |
T |
C |
19: 53,910,564 (GRCm39) |
|
probably null |
Het |
| Pde2a |
C |
T |
7: 101,159,570 (GRCm39) |
T800I |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,620,517 (GRCm39) |
V582E |
probably damaging |
Het |
| Prss40 |
A |
G |
1: 34,591,598 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
G |
T |
9: 37,322,008 (GRCm39) |
R597L |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,413,017 (GRCm39) |
I529F |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,862,188 (GRCm39) |
F180L |
probably benign |
Het |
| Sowahc |
T |
C |
10: 59,059,349 (GRCm39) |
L495P |
probably damaging |
Het |
| Trf |
A |
G |
9: 103,099,327 (GRCm39) |
V324A |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vip |
C |
T |
10: 5,594,021 (GRCm39) |
R125* |
probably null |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,826 (GRCm39) |
T69S |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,374 (GRCm39) |
F14L |
probably benign |
Het |
| Vmn1r53 |
T |
C |
6: 90,201,241 (GRCm39) |
N28D |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,607 (GRCm39) |
K345N |
probably benign |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zbtb8os |
A |
T |
4: 129,236,945 (GRCm39) |
N120I |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,204,785 (GRCm39) |
L274H |
probably 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 |
|
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'- CTGCACTGTGACTTGGCTTC -3'
(R):5'- CAAGCCAGTTCTTCTATCACAC -3'
Sequencing Primer
(F):5'- CTGCAATTTCAAGGTCTCAGTAG -3'
(R):5'- ATCACACTTTCTTTGCTTTTTCAGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation