Incidental Mutation 'IGL02979:Dzank1'
| ID |
406485 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dzank1
|
| Ensembl Gene |
ENSMUSG00000037259 |
| Gene Name |
double zinc ribbon and ankyrin repeat domains 1 |
| Synonyms |
2810039F03Rik, 6330439K17Rik, Ankrd64 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
144312477-144369334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144330658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 466
(F466L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081982]
[ENSMUST00000163701]
|
| AlphaFold |
Q8C008 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081982
AA Change: F465L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080643
Gene: ENSMUSG00000037259
AA Change: F465L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CHB_HEX_C
|
11 |
99 |
1.1e-16 |
PFAM |
|
Pfam:CHB_HEX_C_1
|
20 |
97 |
4.5e-18 |
PFAM |
|
Pfam:Fn3_assoc
|
32 |
100 |
1.6e-17 |
PFAM |
|
ZnF_RBZ
|
268 |
292 |
5.44e0 |
SMART |
|
ZnF_RBZ
|
307 |
331 |
2.55e0 |
SMART |
|
Blast:ZnF_RBZ
|
355 |
378 |
1e-7 |
BLAST |
|
ZnF_RBZ
|
385 |
409 |
3.13e0 |
SMART |
|
low complexity region
|
591 |
604 |
N/A |
INTRINSIC |
|
ANK
|
631 |
662 |
2.97e2 |
SMART |
|
ANK
|
666 |
695 |
2.83e0 |
SMART |
|
Blast:ANK
|
700 |
731 |
7e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149523
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163701
AA Change: F466L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133177
Gene: ENSMUSG00000037259
AA Change: F466L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CHB_HEX_C
|
12 |
99 |
1.5e-17 |
PFAM |
|
Pfam:CHB_HEX_C_1
|
21 |
97 |
8.5e-17 |
PFAM |
|
Pfam:Fn3_assoc
|
32 |
100 |
3.7e-18 |
PFAM |
|
ZnF_RBZ
|
269 |
293 |
5.44e0 |
SMART |
|
ZnF_RBZ
|
308 |
332 |
2.55e0 |
SMART |
|
Blast:ZnF_RBZ
|
356 |
379 |
1e-7 |
BLAST |
|
ZnF_RBZ
|
386 |
410 |
3.13e0 |
SMART |
|
low complexity region
|
592 |
605 |
N/A |
INTRINSIC |
|
ANK
|
632 |
663 |
2.97e2 |
SMART |
|
ANK
|
667 |
696 |
2.83e0 |
SMART |
|
Blast:ANK
|
701 |
732 |
7e-12 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. Alternative splicing has been observed for this gene but the full-length nature of additional variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
T |
8: 44,104,408 (GRCm39) |
N412K |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,837,929 (GRCm39) |
T1646A |
probably benign |
Het |
| C8b |
T |
A |
4: 104,631,585 (GRCm39) |
S67T |
probably damaging |
Het |
| Cemip |
T |
A |
7: 83,652,514 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,808,090 (GRCm39) |
E1708G |
possibly damaging |
Het |
| Chtop |
A |
G |
3: 90,407,402 (GRCm39) |
I161T |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,248,038 (GRCm39) |
V1529A |
possibly damaging |
Het |
| Dus3l |
T |
C |
17: 57,075,140 (GRCm39) |
V388A |
possibly damaging |
Het |
| Exo1 |
A |
G |
1: 175,726,973 (GRCm39) |
D428G |
probably damaging |
Het |
| Fam20c |
C |
T |
5: 138,743,620 (GRCm39) |
P219S |
probably damaging |
Het |
| Hyls1 |
A |
T |
9: 35,472,970 (GRCm39) |
F149I |
probably benign |
Het |
| Kif13b |
A |
T |
14: 65,027,146 (GRCm39) |
Q1486L |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,928,940 (GRCm39) |
V274A |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,225,788 (GRCm39) |
V322A |
possibly damaging |
Het |
| Or8g34 |
T |
C |
9: 39,372,819 (GRCm39) |
F28L |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,388,736 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
G |
A |
7: 3,633,598 (GRCm39) |
|
probably benign |
Het |
| Rock2 |
C |
A |
12: 17,027,941 (GRCm39) |
T1391K |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,119,091 (GRCm39) |
I769V |
probably null |
Het |
| Spag9 |
A |
G |
11: 93,988,190 (GRCm39) |
T416A |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,661,347 (GRCm39) |
L600F |
probably damaging |
Het |
| Ttll5 |
A |
G |
12: 85,873,356 (GRCm39) |
E11G |
probably damaging |
Het |
| Uox |
A |
T |
3: 146,316,246 (GRCm39) |
|
probably null |
Het |
| Wdr72 |
T |
C |
9: 74,086,838 (GRCm39) |
I602T |
probably damaging |
Het |
|
| Other mutations in Dzank1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Dzank1
|
APN |
2 |
144,323,645 (GRCm39) |
nonsense |
probably null |
|
|
IGL00955:Dzank1
|
APN |
2 |
144,332,094 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01888:Dzank1
|
APN |
2 |
144,318,074 (GRCm39) |
splice site |
probably null |
|
|
IGL02108:Dzank1
|
APN |
2 |
144,348,143 (GRCm39) |
missense |
probably benign |
0.02 |
|
BB008:Dzank1
|
UTSW |
2 |
144,323,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB018:Dzank1
|
UTSW |
2 |
144,323,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4466001:Dzank1
|
UTSW |
2 |
144,325,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0388:Dzank1
|
UTSW |
2 |
144,318,026 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0603:Dzank1
|
UTSW |
2 |
144,353,432 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1052:Dzank1
|
UTSW |
2 |
144,355,365 (GRCm39) |
missense |
probably benign |
|
|
R1386:Dzank1
|
UTSW |
2 |
144,333,751 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1529:Dzank1
|
UTSW |
2 |
144,324,108 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1634:Dzank1
|
UTSW |
2 |
144,323,589 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2761:Dzank1
|
UTSW |
2 |
144,355,369 (GRCm39) |
missense |
probably benign |
|
|
R4024:Dzank1
|
UTSW |
2 |
144,324,147 (GRCm39) |
missense |
probably benign |
|
|
R4279:Dzank1
|
UTSW |
2 |
144,333,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4324:Dzank1
|
UTSW |
2 |
144,330,618 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4516:Dzank1
|
UTSW |
2 |
144,352,042 (GRCm39) |
intron |
probably benign |
|
|
R4713:Dzank1
|
UTSW |
2 |
144,333,724 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4782:Dzank1
|
UTSW |
2 |
144,346,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4994:Dzank1
|
UTSW |
2 |
144,364,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5157:Dzank1
|
UTSW |
2 |
144,325,332 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5514:Dzank1
|
UTSW |
2 |
144,323,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5580:Dzank1
|
UTSW |
2 |
144,348,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Dzank1
|
UTSW |
2 |
144,325,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5793:Dzank1
|
UTSW |
2 |
144,348,144 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5820:Dzank1
|
UTSW |
2 |
144,355,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Dzank1
|
UTSW |
2 |
144,343,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6935:Dzank1
|
UTSW |
2 |
144,318,014 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6980:Dzank1
|
UTSW |
2 |
144,332,056 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7331:Dzank1
|
UTSW |
2 |
144,332,190 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7691:Dzank1
|
UTSW |
2 |
144,348,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Dzank1
|
UTSW |
2 |
144,364,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Dzank1
|
UTSW |
2 |
144,333,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7931:Dzank1
|
UTSW |
2 |
144,323,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8127:Dzank1
|
UTSW |
2 |
144,330,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8192:Dzank1
|
UTSW |
2 |
144,332,145 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8314:Dzank1
|
UTSW |
2 |
144,344,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Dzank1
|
UTSW |
2 |
144,333,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9025:Dzank1
|
UTSW |
2 |
144,318,012 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9096:Dzank1
|
UTSW |
2 |
144,316,882 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9097:Dzank1
|
UTSW |
2 |
144,316,882 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9108:Dzank1
|
UTSW |
2 |
144,364,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9261:Dzank1
|
UTSW |
2 |
144,355,344 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9410:Dzank1
|
UTSW |
2 |
144,324,050 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9418:Dzank1
|
UTSW |
2 |
144,355,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation