Incidental Mutation 'R7331:Dzank1'
| ID |
569225 |
| 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 |
045424-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7331 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
144312477-144369334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144332190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 382
(I382N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081982]
[ENSMUST00000163701]
|
| AlphaFold |
Q8C008 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081982
AA Change: I382N
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000080643
Gene: ENSMUSG00000037259
AA Change: I382N
| 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 |
probably benign
Transcript: ENSMUST00000163701
AA Change: I383N
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133177
Gene: ENSMUSG00000037259
AA Change: I383N
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (48/48) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,331,728 (GRCm39) |
H47L |
possibly damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,748,484 (GRCm39) |
S438P |
probably damaging |
Het |
| Atg16l2 |
C |
A |
7: 100,948,255 (GRCm39) |
K96N |
probably damaging |
Het |
| Bglap2 |
A |
T |
3: 88,285,567 (GRCm39) |
M35K |
possibly damaging |
Het |
| Btbd1 |
T |
A |
7: 81,465,720 (GRCm39) |
I209L |
probably damaging |
Het |
| Cdc34 |
T |
C |
10: 79,521,146 (GRCm39) |
Y148H |
probably damaging |
Het |
| Clcc1 |
A |
G |
3: 108,575,394 (GRCm39) |
D157G |
probably damaging |
Het |
| Csmd2 |
A |
T |
4: 128,458,021 (GRCm39) |
|
probably null |
Het |
| Ctsj |
G |
A |
13: 61,151,645 (GRCm39) |
S90L |
probably benign |
Het |
| Cycs |
A |
G |
6: 50,542,532 (GRCm39) |
F37L |
probably benign |
Het |
| Dync2li1 |
T |
A |
17: 84,955,086 (GRCm39) |
C248* |
probably null |
Het |
| Eif4a3l2 |
G |
A |
6: 116,529,130 (GRCm39) |
V336I |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,739,066 (GRCm39) |
I406V |
probably damaging |
Het |
| Ero1b |
A |
G |
13: 12,615,015 (GRCm39) |
E282G |
probably damaging |
Het |
| Fastkd5 |
A |
T |
2: 130,457,647 (GRCm39) |
N314K |
possibly damaging |
Het |
| Fbh1 |
A |
T |
2: 11,768,797 (GRCm39) |
C300S |
probably benign |
Het |
| Fchsd1 |
T |
C |
18: 38,101,823 (GRCm39) |
I49V |
possibly damaging |
Het |
| Foxn1 |
A |
G |
11: 78,249,615 (GRCm39) |
Y637H |
probably damaging |
Het |
| Gabarap |
A |
G |
11: 69,885,298 (GRCm39) |
E101G |
possibly damaging |
Het |
| Gm7247 |
A |
G |
14: 51,601,792 (GRCm39) |
R22G |
probably damaging |
Het |
| Gm7694 |
A |
T |
1: 170,129,180 (GRCm39) |
D116E |
possibly damaging |
Het |
| Gm9508 |
A |
G |
10: 77,532,629 (GRCm39) |
C147R |
unknown |
Het |
| Gpr152 |
A |
G |
19: 4,192,608 (GRCm39) |
M50V |
probably damaging |
Het |
| Hunk |
T |
A |
16: 90,269,450 (GRCm39) |
N331K |
possibly damaging |
Het |
| Il1r2 |
A |
G |
1: 40,162,409 (GRCm39) |
T351A |
probably benign |
Het |
| Iqub |
A |
G |
6: 24,500,393 (GRCm39) |
V287A |
possibly damaging |
Het |
| Lix1 |
A |
T |
17: 17,647,474 (GRCm39) |
T47S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,553,622 (GRCm39) |
|
probably null |
Het |
| Nup107 |
G |
A |
10: 117,606,103 (GRCm39) |
T500I |
probably damaging |
Het |
| Phf21b |
G |
C |
15: 84,675,295 (GRCm39) |
R405G |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,241,101 (GRCm39) |
V709A |
probably damaging |
Het |
| Psme3ip1 |
T |
A |
8: 95,309,564 (GRCm39) |
K143* |
probably null |
Het |
| Rfc1 |
T |
C |
5: 65,468,387 (GRCm39) |
T109A |
probably damaging |
Het |
| Rpa1 |
A |
G |
11: 75,203,941 (GRCm39) |
V302A |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,760,517 (GRCm39) |
I1522T |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,594,010 (GRCm39) |
R2578L |
possibly damaging |
Het |
| Scgb2b18 |
C |
T |
7: 32,872,681 (GRCm39) |
W41* |
probably null |
Het |
| Sdccag8 |
C |
G |
1: 176,695,856 (GRCm39) |
Q387E |
possibly damaging |
Het |
| Slc25a17 |
G |
A |
15: 81,213,346 (GRCm39) |
T119M |
probably damaging |
Het |
| Slc45a4 |
G |
T |
15: 73,477,489 (GRCm39) |
Q16K |
probably benign |
Het |
| Slc4a1 |
G |
A |
11: 102,252,245 (GRCm39) |
|
probably benign |
Het |
| Slc7a14 |
T |
C |
3: 31,311,880 (GRCm39) |
T47A |
probably benign |
Het |
| Stard6 |
A |
G |
18: 70,616,553 (GRCm39) |
R71G |
probably damaging |
Het |
| Tecr |
A |
G |
8: 84,298,564 (GRCm39) |
V321A |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,195,218 (GRCm39) |
F290L |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,753,731 (GRCm39) |
V48A |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,703,308 (GRCm39) |
I258N |
probably damaging |
Het |
| Zar1 |
T |
A |
5: 72,737,655 (GRCm39) |
E249V |
possibly damaging |
Het |
| Zfp101 |
T |
C |
17: 33,601,559 (GRCm39) |
T66A |
possibly damaging |
Het |
| Zyx |
A |
G |
6: 42,328,593 (GRCm39) |
H230R |
probably benign |
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 |
|
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 |
|
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'- TGATTCACAGGGCACACAAAG -3'
(R):5'- ATAGCCTGGGTAAGCTATGTTTC -3'
Sequencing Primer
(F):5'- GAGTTACACCTGAGCAGCAGTTC -3'
(R):5'- CCTGGGTAAGCTATGTTTCTTTAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation