Incidental Mutation 'R4516:Dzank1'
| ID |
332897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dzank1
|
| Ensembl Gene |
ENSMUSG00000037259 |
| Gene Name |
double zinc ribbon and ankyrin repeat domains 1 |
| Synonyms |
2810039F03Rik, 6330439K17Rik, Ankrd64 |
| MMRRC Submission |
041760-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4516 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
144312477-144369334 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 144352042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081982]
[ENSMUST00000163701]
|
| AlphaFold |
Q8C008 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081982
|
| SMART Domains |
Protein: ENSMUSP00000080643
Gene: ENSMUSG00000037259
| 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: ENSMUST00000124823
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163701
|
| SMART Domains |
Protein: ENSMUSP00000133177
Gene: ENSMUSG00000037259
| 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 |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.9%
|
| Validation Efficiency |
86% (51/59) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bean1 |
T |
C |
8: 104,941,786 (GRCm39) |
S211P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,949,460 (GRCm39) |
S369P |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,177 (GRCm39) |
S552P |
possibly damaging |
Het |
| Cdh11 |
T |
C |
8: 103,400,594 (GRCm39) |
T125A |
possibly damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,194,952 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
G |
5: 86,195,446 (GRCm39) |
S108P |
possibly damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,536,609 (GRCm38) |
D199E |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,294,227 (GRCm39) |
Y224* |
probably null |
Het |
| Cfap46 |
G |
A |
7: 139,239,998 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
G |
A |
2: 35,017,993 (GRCm39) |
V468I |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,576,148 (GRCm39) |
V2071I |
possibly damaging |
Het |
| Coq7 |
A |
T |
7: 118,109,130 (GRCm39) |
L306Q |
unknown |
Het |
| D7Ertd443e |
C |
G |
7: 133,895,057 (GRCm39) |
Q591H |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,404,059 (GRCm39) |
V2828M |
probably damaging |
Het |
| Elmo1 |
C |
T |
13: 20,467,084 (GRCm39) |
T235I |
probably benign |
Het |
| Elp3 |
A |
T |
14: 65,785,326 (GRCm39) |
F492I |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,231,671 (GRCm39) |
S90G |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 97,986,061 (GRCm39) |
|
probably benign |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Got1 |
T |
C |
19: 43,493,280 (GRCm39) |
Y243C |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,855,345 (GRCm39) |
M673K |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,628,415 (GRCm39) |
D1502E |
probably damaging |
Het |
| Limk1 |
A |
G |
5: 134,705,640 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,758,745 (GRCm39) |
Y242C |
probably damaging |
Het |
| Naa12 |
G |
A |
18: 80,254,791 (GRCm39) |
M28I |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,157,824 (GRCm39) |
V354A |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,217,130 (GRCm39) |
D1380G |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,057,233 (GRCm39) |
T280S |
probably damaging |
Het |
| Or1e29 |
C |
T |
11: 73,667,866 (GRCm39) |
G96S |
probably benign |
Het |
| Or4c15b |
T |
A |
2: 89,113,187 (GRCm39) |
M118L |
probably benign |
Het |
| Pax7 |
T |
G |
4: 139,508,104 (GRCm39) |
D307A |
probably benign |
Het |
| Pdxdc1 |
G |
A |
16: 13,656,210 (GRCm39) |
Q621* |
probably null |
Het |
| Rab29 |
A |
T |
1: 131,795,469 (GRCm39) |
Y27F |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,548,165 (GRCm39) |
T278A |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc47a1 |
T |
C |
11: 61,235,339 (GRCm39) |
H498R |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,517,200 (GRCm39) |
|
probably benign |
Het |
| Tas2r116 |
T |
C |
6: 132,833,113 (GRCm39) |
L238P |
probably damaging |
Het |
| Tigd5 |
A |
T |
15: 75,782,364 (GRCm39) |
R252* |
probably null |
Het |
| Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
| Tmem106b |
C |
T |
6: 13,075,098 (GRCm39) |
T95I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r174 |
A |
G |
7: 23,453,768 (GRCm39) |
I145V |
probably benign |
Het |
| Vps26a |
T |
C |
10: 62,304,124 (GRCm39) |
M116V |
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 |
|
IGL02979:Dzank1
|
APN |
2 |
144,330,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCATTCCATCACTGATTAAAGC -3'
(R):5'- AACGTGGTGTGGGCCTTTAC -3'
Sequencing Primer
(F):5'- TGAACCTCTGAGTTCAAGGC -3'
(R):5'- ACTGGAAGTTTCTAGCTATGAGGAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation