Incidental Mutation 'R1526:Dzip3'
ID |
167472 |
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 |
039566-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1526 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
48744591-48814505 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 48757369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 888
(L888R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113344
(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: L682R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110161 Gene: ENSMUSG00000064061 AA Change: L682R
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 damaging
Transcript: ENSMUST00000121869
AA Change: L888R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113344 Gene: ENSMUSG00000064061 AA Change: L888R
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: ENSMUST00000139350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147358
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap2 |
G |
T |
12: 21,235,188 (GRCm39) |
A97S |
probably damaging |
Het |
Brd10 |
T |
C |
19: 29,712,545 (GRCm39) |
K785E |
probably damaging |
Het |
C1qtnf1 |
A |
T |
11: 118,334,616 (GRCm39) |
E32V |
possibly damaging |
Het |
Ccdc81 |
A |
G |
7: 89,525,081 (GRCm39) |
L500P |
probably damaging |
Het |
Cdo1 |
T |
C |
18: 46,861,130 (GRCm39) |
E27G |
probably benign |
Het |
Ceacam5 |
G |
A |
7: 17,484,620 (GRCm39) |
G454D |
probably damaging |
Het |
Cemip |
T |
C |
7: 83,600,648 (GRCm39) |
D991G |
probably damaging |
Het |
Cep170 |
A |
C |
1: 176,616,071 (GRCm39) |
I79S |
probably damaging |
Het |
Cep19 |
A |
G |
16: 31,926,039 (GRCm39) |
Q149R |
possibly damaging |
Het |
Cideb |
A |
T |
14: 55,992,619 (GRCm39) |
L99* |
probably null |
Het |
Cntnap5a |
A |
G |
1: 116,356,207 (GRCm39) |
N746S |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,564,080 (GRCm39) |
N1715S |
probably benign |
Het |
Col3a1 |
T |
C |
1: 45,360,848 (GRCm39) |
S93P |
unknown |
Het |
Csmd3 |
C |
A |
15: 47,449,028 (GRCm39) |
|
probably null |
Het |
Disp3 |
T |
C |
4: 148,344,373 (GRCm39) |
I510V |
probably benign |
Het |
Drosha |
T |
A |
15: 12,914,070 (GRCm39) |
V1115E |
probably damaging |
Het |
Emx2 |
C |
A |
19: 59,452,442 (GRCm39) |
A242E |
probably benign |
Het |
Fto |
G |
A |
8: 92,168,314 (GRCm39) |
E256K |
possibly damaging |
Het |
Gabrb2 |
A |
C |
11: 42,482,715 (GRCm39) |
Y191S |
possibly damaging |
Het |
Gm6526 |
A |
T |
14: 43,987,394 (GRCm39) |
H110L |
probably damaging |
Het |
Grin3b |
T |
A |
10: 79,810,436 (GRCm39) |
N647K |
probably damaging |
Het |
Ifit2 |
T |
G |
19: 34,550,602 (GRCm39) |
S47R |
probably benign |
Het |
Il5ra |
A |
T |
6: 106,712,781 (GRCm39) |
V244E |
possibly damaging |
Het |
Inppl1 |
A |
G |
7: 101,482,153 (GRCm39) |
L141P |
probably benign |
Het |
Iws1 |
A |
G |
18: 32,213,178 (GRCm39) |
D202G |
probably benign |
Het |
Kctd4 |
A |
C |
14: 76,200,523 (GRCm39) |
I165L |
probably benign |
Het |
Lrch3 |
G |
A |
16: 32,770,746 (GRCm39) |
C116Y |
probably damaging |
Het |
Mettl25 |
T |
C |
10: 105,668,844 (GRCm39) |
T93A |
possibly damaging |
Het |
Mgat4d |
A |
G |
8: 84,095,666 (GRCm39) |
I314V |
probably benign |
Het |
Mrgprb4 |
A |
T |
7: 47,848,159 (GRCm39) |
Y256* |
probably null |
Het |
Myo9b |
G |
T |
8: 71,808,408 (GRCm39) |
V1672L |
probably damaging |
Het |
Nek1 |
C |
T |
8: 61,502,975 (GRCm39) |
P449L |
probably benign |
Het |
Nucb2 |
G |
A |
7: 116,123,642 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
C |
11: 58,919,412 (GRCm39) |
Y6864C |
probably damaging |
Het |
Omt2b |
A |
T |
9: 78,235,420 (GRCm39) |
|
probably benign |
Het |
Or2y3 |
T |
A |
17: 38,393,486 (GRCm39) |
I128F |
probably damaging |
Het |
Or4p18 |
C |
T |
2: 88,232,777 (GRCm39) |
C167Y |
probably damaging |
Het |
Or5ac15 |
G |
A |
16: 58,940,293 (GRCm39) |
L47F |
probably damaging |
Het |
Or6c208 |
A |
G |
10: 129,224,176 (GRCm39) |
K225E |
probably benign |
Het |
Otogl |
G |
T |
10: 107,705,387 (GRCm39) |
P647T |
probably damaging |
Het |
Oxnad1 |
A |
G |
14: 31,824,244 (GRCm39) |
D271G |
probably benign |
Het |
Pbx3 |
T |
C |
2: 34,261,776 (GRCm39) |
I53V |
probably damaging |
Het |
Pds5b |
T |
A |
5: 150,639,865 (GRCm39) |
|
probably null |
Het |
Ppp4r3a |
A |
T |
12: 101,007,000 (GRCm39) |
D810E |
probably damaging |
Het |
Ptpro |
A |
T |
6: 137,438,724 (GRCm39) |
D1189V |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,492,002 (GRCm39) |
N3758S |
probably damaging |
Het |
Scarb2 |
G |
A |
5: 92,594,200 (GRCm39) |
T454M |
possibly damaging |
Het |
Sec23a |
A |
C |
12: 59,032,972 (GRCm39) |
|
probably null |
Het |
Spire2 |
C |
T |
8: 124,095,502 (GRCm39) |
A535V |
probably benign |
Het |
Svopl |
A |
T |
6: 38,006,570 (GRCm39) |
F142L |
probably benign |
Het |
Tas2r144 |
T |
C |
6: 42,192,674 (GRCm39) |
I138T |
probably benign |
Het |
Tbc1d15 |
A |
G |
10: 115,039,135 (GRCm39) |
M535T |
probably benign |
Het |
Tnfaip1 |
C |
T |
11: 78,420,971 (GRCm39) |
V30M |
possibly damaging |
Het |
Topaz1 |
T |
A |
9: 122,625,108 (GRCm39) |
W1398R |
probably damaging |
Het |
Tpo |
A |
G |
12: 30,134,694 (GRCm39) |
S755P |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,606,460 (GRCm39) |
S18116R |
probably damaging |
Het |
Vmn2r78 |
A |
G |
7: 86,571,465 (GRCm39) |
|
probably null |
Het |
Wdr49 |
T |
A |
3: 75,304,227 (GRCm39) |
K494M |
probably benign |
Het |
Yeats2 |
A |
G |
16: 20,024,836 (GRCm39) |
M697V |
probably damaging |
Het |
Zfp407 |
G |
A |
18: 84,579,158 (GRCm39) |
P652S |
possibly damaging |
Het |
Zfp462 |
A |
G |
4: 55,009,002 (GRCm39) |
M323V |
probably benign |
Het |
Zfp629 |
G |
T |
7: 127,209,931 (GRCm39) |
P626Q |
possibly damaging |
Het |
Zfp804a |
A |
T |
2: 82,088,532 (GRCm39) |
Y787F |
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 |
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 |
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'- GGGGAGGAAGTTGCCACTGTATTC -3'
(R):5'- GAGGTCCATTTGGACTATGCCCTG -3'
Sequencing Primer
(F):5'- GTGCTTGTCAATAATTCAGCAGATG -3'
(R):5'- ccaggggaccaaggcac -3'
|
Posted On |
2014-04-13 |