Incidental Mutation 'R9418:Dzank1'
| ID |
712152 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9418 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
144312477-144369334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 144355408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 96
(V96M)
|
| 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: V96M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080643
Gene: ENSMUSG00000037259
AA Change: V96M
| 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 damaging
Transcript: ENSMUST00000163701
AA Change: V96M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133177
Gene: ENSMUSG00000037259
AA Change: V96M
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
A |
5: 138,645,317 (GRCm39) |
G401R |
probably damaging |
Het |
| Adgrf5 |
G |
A |
17: 43,737,864 (GRCm39) |
V233I |
probably benign |
Het |
| Ankrd34b |
A |
G |
13: 92,575,232 (GRCm39) |
K155E |
probably damaging |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,871,766 (GRCm39) |
H839Q |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,303,669 (GRCm39) |
L251P |
probably damaging |
Het |
| Ciita |
G |
T |
16: 10,319,765 (GRCm39) |
E63* |
probably null |
Het |
| Cmya5 |
T |
C |
13: 93,226,209 (GRCm39) |
T2960A |
probably benign |
Het |
| Cyp2b13 |
A |
T |
7: 25,761,110 (GRCm39) |
I56F |
probably benign |
Het |
| Dcaf4 |
A |
T |
12: 83,586,606 (GRCm39) |
Y422F |
probably benign |
Het |
| Dhrs7b |
A |
T |
11: 60,746,594 (GRCm39) |
I228F |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,885,167 (GRCm39) |
S853P |
probably benign |
Het |
| Fap |
G |
A |
2: 62,385,181 (GRCm39) |
Q65* |
probably null |
Het |
| Fbxo47 |
T |
A |
11: 97,747,067 (GRCm39) |
N333I |
possibly damaging |
Het |
| Fem1al |
C |
T |
11: 29,774,632 (GRCm39) |
C275Y |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gpr171 |
T |
C |
3: 59,004,999 (GRCm39) |
T259A |
possibly damaging |
Het |
| Hectd2 |
T |
A |
19: 36,589,574 (GRCm39) |
S595T |
probably benign |
Het |
| Hexa |
A |
G |
9: 59,464,592 (GRCm39) |
I161V |
probably benign |
Het |
| Hira |
A |
G |
16: 18,770,025 (GRCm39) |
T777A |
probably benign |
Het |
| Il2ra |
T |
C |
2: 11,689,203 (GRCm39) |
F244S |
possibly damaging |
Het |
| Kcne3 |
A |
G |
7: 99,833,385 (GRCm39) |
M1V |
probably null |
Het |
| Kcnj1 |
G |
A |
9: 32,308,203 (GRCm39) |
C209Y |
probably damaging |
Het |
| Kcnj2 |
A |
T |
11: 110,963,357 (GRCm39) |
I250F |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,228,741 (GRCm39) |
|
probably benign |
Het |
| Leng9 |
T |
C |
7: 4,151,354 (GRCm39) |
T441A |
probably benign |
Het |
| Lingo2 |
T |
C |
4: 35,709,035 (GRCm39) |
H315R |
probably benign |
Het |
| Lrrc7 |
A |
T |
3: 157,908,023 (GRCm39) |
S266T |
possibly damaging |
Het |
| Mab21l4 |
A |
C |
1: 93,087,710 (GRCm39) |
L48V |
probably benign |
Het |
| Mib1 |
A |
G |
18: 10,812,064 (GRCm39) |
D987G |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,234,358 (GRCm39) |
V12A |
probably benign |
Het |
| Mta1 |
G |
T |
12: 113,094,987 (GRCm39) |
R415L |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,017,700 (GRCm39) |
V479E |
probably benign |
Het |
| Mylk3 |
C |
A |
8: 86,091,444 (GRCm39) |
M120I |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,835,879 (GRCm39) |
V204M |
probably benign |
Het |
| Or2v2 |
G |
T |
11: 49,004,484 (GRCm39) |
P23Q |
probably benign |
Het |
| Otog |
A |
T |
7: 45,938,024 (GRCm39) |
Q1911L |
probably benign |
Het |
| Pcdh20 |
C |
T |
14: 88,705,455 (GRCm39) |
C615Y |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,433,464 (GRCm39) |
H294R |
probably damaging |
Het |
| Phldb3 |
A |
T |
7: 24,328,354 (GRCm39) |
I633F |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pip5k1b |
A |
G |
19: 24,327,581 (GRCm39) |
V425A |
probably benign |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Rab23 |
A |
T |
1: 33,777,424 (GRCm39) |
E179D |
probably benign |
Het |
| Slc12a6 |
C |
A |
2: 112,174,555 (GRCm39) |
L522I |
|
Het |
| Slc22a19 |
A |
T |
19: 7,660,210 (GRCm39) |
M400K |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Spsb2 |
C |
A |
6: 124,786,282 (GRCm39) |
A5D |
probably damaging |
Het |
| Tgfb1 |
A |
G |
7: 25,391,952 (GRCm39) |
E169G |
probably damaging |
Het |
| Tm4sf5 |
T |
A |
11: 70,401,134 (GRCm39) |
C117S |
probably damaging |
Het |
| Tmcc3 |
T |
C |
10: 94,415,087 (GRCm39) |
L294P |
possibly damaging |
Het |
| Ubc |
T |
C |
5: 125,464,466 (GRCm39) |
Y287C |
probably damaging |
Het |
| Uroc1 |
G |
T |
6: 90,313,880 (GRCm39) |
V56F |
probably benign |
Het |
| Ush1c |
A |
T |
7: 45,872,292 (GRCm39) |
F237I |
probably damaging |
Het |
| Xxylt1 |
A |
T |
16: 30,826,624 (GRCm39) |
Y230* |
probably null |
Het |
| Zfp467 |
A |
T |
6: 48,415,990 (GRCm39) |
C221S |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAATGGCTAATGCTGACC -3'
(R):5'- CCCTAAACCTTCTTAGCTGGAAG -3'
Sequencing Primer
(F):5'- CACAATGGCTAATGCTGACCTTAATC -3'
(R):5'- AGCTACCTCTCCCTTGAAT -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation