Incidental Mutation 'IGL03342:Dzip3'
ID |
417252 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dzip3
|
Ensembl Gene |
ENSMUSG00000064061 |
Gene Name |
DAZ interacting protein 3, zinc finger |
Synonyms |
2A-HUB, 2310047C04Rik, 6430549P11Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03342
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
48744591-48814505 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 48749986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 1050
(Q1050K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114516]
[ENSMUST00000121869]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114516
AA Change: Q844K
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110161 Gene: ENSMUSG00000064061 AA Change: Q844K
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: Q1050K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113344 Gene: ENSMUSG00000064061 AA Change: Q1050K
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 damaging
Transcript: ENSMUST00000151950
AA Change: Q42K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117675 Gene: ENSMUSG00000064061 AA Change: Q42K
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 |
|
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 |
Abca5 |
G |
A |
11: 110,178,517 (GRCm39) |
T1152M |
possibly damaging |
Het |
Abcg2 |
G |
T |
6: 58,642,120 (GRCm39) |
R136I |
probably damaging |
Het |
Acap2 |
A |
G |
16: 30,924,310 (GRCm39) |
V641A |
probably damaging |
Het |
Afg3l2 |
A |
T |
18: 67,540,390 (GRCm39) |
D706E |
probably benign |
Het |
Bbs1 |
A |
T |
19: 4,947,621 (GRCm39) |
L311Q |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,342,690 (GRCm39) |
|
probably null |
Het |
Car2 |
A |
T |
3: 14,960,629 (GRCm39) |
D129V |
probably benign |
Het |
Catsper2 |
T |
C |
2: 121,237,217 (GRCm39) |
I228V |
probably damaging |
Het |
Cdhr3 |
C |
A |
12: 33,101,054 (GRCm39) |
R452M |
probably benign |
Het |
Chrm1 |
A |
T |
19: 8,656,672 (GRCm39) |
Q459L |
probably benign |
Het |
Cnbd1 |
C |
T |
4: 19,098,264 (GRCm39) |
|
probably benign |
Het |
Coa7 |
A |
G |
4: 108,189,426 (GRCm39) |
D42G |
probably damaging |
Het |
Ctsz |
T |
C |
2: 174,270,933 (GRCm39) |
Y187C |
possibly damaging |
Het |
Cxcr6 |
C |
T |
9: 123,639,472 (GRCm39) |
Q165* |
probably null |
Het |
Cyp3a11 |
G |
A |
5: 145,791,927 (GRCm39) |
P489S |
probably damaging |
Het |
Cyp4f15 |
A |
T |
17: 32,916,910 (GRCm39) |
I276F |
probably damaging |
Het |
Dsg1b |
T |
A |
18: 20,542,517 (GRCm39) |
M1008K |
probably benign |
Het |
Dsg4 |
T |
A |
18: 20,584,880 (GRCm39) |
I198N |
probably damaging |
Het |
Dtymk |
C |
A |
1: 93,722,541 (GRCm39) |
E87D |
probably benign |
Het |
Dysf |
T |
A |
6: 84,167,854 (GRCm39) |
D1749E |
probably benign |
Het |
Echs1 |
C |
T |
7: 139,690,026 (GRCm39) |
|
probably benign |
Het |
Enc1 |
T |
A |
13: 97,382,978 (GRCm39) |
I496N |
possibly damaging |
Het |
Epc2 |
A |
T |
2: 49,426,658 (GRCm39) |
Y139F |
probably benign |
Het |
Exo1 |
A |
T |
1: 175,719,693 (GRCm39) |
N246I |
probably benign |
Het |
Flg2 |
A |
G |
3: 93,108,542 (GRCm39) |
K190R |
probably damaging |
Het |
Gm5424 |
A |
T |
10: 61,907,971 (GRCm39) |
|
noncoding transcript |
Het |
Gpbp1l1 |
A |
C |
4: 116,431,740 (GRCm39) |
T133P |
probably benign |
Het |
Gpr155 |
A |
G |
2: 73,180,022 (GRCm39) |
F146S |
probably damaging |
Het |
Grm1 |
T |
A |
10: 10,955,715 (GRCm39) |
I190L |
probably benign |
Het |
Hif3a |
C |
T |
7: 16,775,047 (GRCm39) |
R515H |
possibly damaging |
Het |
Itprid2 |
G |
A |
2: 79,490,796 (GRCm39) |
M971I |
probably damaging |
Het |
Kdm5b |
G |
A |
1: 134,530,314 (GRCm39) |
D442N |
probably benign |
Het |
Manba |
A |
T |
3: 135,223,748 (GRCm39) |
I212F |
possibly damaging |
Het |
Map3k13 |
A |
G |
16: 21,710,981 (GRCm39) |
E88G |
possibly damaging |
Het |
Mapk7 |
A |
G |
11: 61,382,216 (GRCm39) |
L163P |
probably damaging |
Het |
Med1 |
A |
T |
11: 98,080,006 (GRCm39) |
|
probably null |
Het |
Mtrf1 |
T |
A |
14: 79,653,312 (GRCm39) |
|
probably null |
Het |
Mtrf1 |
A |
G |
14: 79,653,420 (GRCm39) |
D365G |
possibly damaging |
Het |
Mtrf1 |
C |
T |
14: 79,653,311 (GRCm39) |
|
probably benign |
Het |
Myadm |
C |
T |
7: 3,345,403 (GRCm39) |
T55I |
possibly damaging |
Het |
Nlgn1 |
A |
T |
3: 26,187,411 (GRCm39) |
I158N |
probably damaging |
Het |
Nlrc4 |
A |
G |
17: 74,752,313 (GRCm39) |
L690P |
probably damaging |
Het |
Nlrp1a |
A |
T |
11: 71,013,617 (GRCm39) |
D544E |
probably benign |
Het |
Nlrp2 |
A |
T |
7: 5,320,482 (GRCm39) |
L20Q |
probably damaging |
Het |
Or1e30 |
T |
A |
11: 73,678,309 (GRCm39) |
S182T |
probably benign |
Het |
Or8k21 |
A |
T |
2: 86,145,579 (GRCm39) |
I17N |
possibly damaging |
Het |
Or9i16 |
A |
G |
19: 13,864,801 (GRCm39) |
Y258H |
probably damaging |
Het |
Padi3 |
G |
A |
4: 140,537,909 (GRCm39) |
Q4* |
probably null |
Het |
Pfkl |
A |
T |
10: 77,841,309 (GRCm39) |
I13K |
possibly damaging |
Het |
Pinx1 |
A |
G |
14: 64,157,018 (GRCm39) |
D315G |
probably benign |
Het |
Prickle3 |
A |
G |
X: 7,529,735 (GRCm39) |
D47G |
probably benign |
Het |
Psmd10 |
A |
T |
X: 139,857,403 (GRCm39) |
V5E |
probably damaging |
Het |
Rasgrf2 |
C |
A |
13: 92,136,098 (GRCm39) |
V605F |
probably damaging |
Het |
Smarca1 |
G |
T |
X: 46,981,146 (GRCm39) |
A84D |
probably damaging |
Het |
Sp2 |
A |
G |
11: 96,852,588 (GRCm39) |
V112A |
probably damaging |
Het |
Srgap3 |
G |
A |
6: 112,752,648 (GRCm39) |
R279C |
probably damaging |
Het |
Trav21-dv12 |
T |
C |
14: 54,113,501 (GRCm39) |
L10P |
unknown |
Het |
Vmn1r236 |
A |
T |
17: 21,507,236 (GRCm39) |
H118L |
probably benign |
Het |
Vmn2r120 |
A |
G |
17: 57,816,372 (GRCm39) |
M661T |
probably benign |
Het |
Vmn2r17 |
A |
T |
5: 109,575,782 (GRCm39) |
I218F |
probably damaging |
Het |
Vmn2r41 |
G |
T |
7: 8,141,682 (GRCm39) |
A594D |
probably damaging |
Het |
Zc2hc1a |
A |
G |
3: 7,589,283 (GRCm39) |
E103G |
possibly damaging |
Het |
Zfp62 |
G |
T |
11: 49,106,298 (GRCm39) |
G130* |
probably null |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |