Incidental Mutation 'R0388:Dzank1'
| ID |
31394 |
| 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 |
038594-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0388 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
144312477-144369334 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144318026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 714
(L714Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081982]
[ENSMUST00000163701]
|
| AlphaFold |
Q8C008 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081982
AA Change: L713Q
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080643
Gene: ENSMUSG00000037259
AA Change: L713Q
| 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 |
possibly damaging
Transcript: ENSMUST00000163701
AA Change: L714Q
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133177
Gene: ENSMUSG00000037259
AA Change: L714Q
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| Acsbg1 |
T |
C |
9: 54,516,347 (GRCm39) |
K678R |
probably damaging |
Het |
| Adgrg6 |
A |
G |
10: 14,326,402 (GRCm39) |
I410T |
probably benign |
Het |
| Afap1l2 |
A |
C |
19: 56,905,674 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,565 (GRCm39) |
Y1242H |
probably damaging |
Het |
| Apoo-ps |
T |
C |
13: 107,551,173 (GRCm39) |
|
noncoding transcript |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,265,761 (GRCm39) |
T268K |
probably damaging |
Het |
| Chd5 |
T |
A |
4: 152,456,101 (GRCm39) |
H923Q |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,854,560 (GRCm39) |
V1967A |
probably benign |
Het |
| Cntn3 |
T |
C |
6: 102,254,277 (GRCm39) |
M222V |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,908,915 (GRCm39) |
K277R |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,697,779 (GRCm39) |
|
probably benign |
Het |
| Dmpk |
T |
A |
7: 18,818,002 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
A |
G |
11: 105,000,227 (GRCm39) |
D272G |
possibly damaging |
Het |
| Erbb2 |
G |
C |
11: 98,318,177 (GRCm39) |
R471P |
possibly damaging |
Het |
| Esf1 |
T |
A |
2: 139,962,791 (GRCm39) |
Y760F |
possibly damaging |
Het |
| Fanci |
C |
A |
7: 79,089,378 (GRCm39) |
T938K |
probably benign |
Het |
| Gnai3 |
A |
G |
3: 108,023,073 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,238,469 (GRCm39) |
C319S |
probably damaging |
Het |
| Il12a |
T |
A |
3: 68,602,520 (GRCm39) |
|
probably null |
Het |
| Inpp4a |
A |
G |
1: 37,435,241 (GRCm39) |
D837G |
probably damaging |
Het |
| Kcnj5 |
T |
A |
9: 32,229,159 (GRCm39) |
E13V |
probably damaging |
Het |
| Kcnq3 |
T |
A |
15: 65,871,887 (GRCm39) |
Y594F |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,582,857 (GRCm39) |
E556G |
probably damaging |
Het |
| Kif28 |
T |
C |
1: 179,567,654 (GRCm39) |
I39V |
possibly damaging |
Het |
| Lgi2 |
T |
C |
5: 52,711,891 (GRCm39) |
E143G |
probably damaging |
Het |
| Mast1 |
T |
G |
8: 85,642,166 (GRCm39) |
I1063L |
probably benign |
Het |
| Med12l |
T |
C |
3: 59,000,925 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
G |
T |
10: 128,634,752 (GRCm39) |
R456L |
probably benign |
Het |
| Mon1b |
T |
A |
8: 114,365,710 (GRCm39) |
V346E |
probably damaging |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Mrgpra9 |
A |
T |
7: 46,902,542 (GRCm39) |
M1K |
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,394,103 (GRCm39) |
H2819Q |
probably benign |
Het |
| Nav1 |
A |
C |
1: 135,376,655 (GRCm39) |
|
probably benign |
Het |
| Neurl4 |
T |
C |
11: 69,802,559 (GRCm39) |
|
probably benign |
Het |
| Ntng2 |
G |
C |
2: 29,097,438 (GRCm39) |
P341R |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,055,091 (GRCm39) |
Y221F |
probably damaging |
Het |
| Or1j19 |
C |
A |
2: 36,676,874 (GRCm39) |
D112E |
probably benign |
Het |
| Or1l4 |
A |
C |
2: 37,092,196 (GRCm39) |
|
probably null |
Het |
| Or5al6 |
A |
G |
2: 85,976,974 (GRCm39) |
Y35H |
probably damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,108,143 (GRCm39) |
M380V |
probably benign |
Het |
| Pank1 |
T |
C |
19: 34,799,106 (GRCm39) |
|
probably benign |
Het |
| Parn |
T |
C |
16: 13,472,340 (GRCm39) |
D169G |
possibly damaging |
Het |
| Pknox1 |
T |
A |
17: 31,822,166 (GRCm39) |
I311N |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,051,214 (GRCm39) |
V248A |
possibly damaging |
Het |
| Prkcq |
T |
C |
2: 11,259,045 (GRCm39) |
C322R |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,702,928 (GRCm39) |
I1298N |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,288,046 (GRCm39) |
S36P |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sass6 |
C |
A |
3: 116,400,957 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,099,152 (GRCm39) |
G1463D |
probably benign |
Het |
| Slc35d1 |
A |
T |
4: 103,042,084 (GRCm39) |
Y249* |
probably null |
Het |
| Slc9a3 |
C |
T |
13: 74,269,655 (GRCm39) |
P8S |
unknown |
Het |
| Slc9a9 |
T |
A |
9: 94,821,616 (GRCm39) |
|
probably null |
Het |
| Sting1 |
A |
G |
18: 35,868,164 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 76,033,749 (GRCm39) |
M3666K |
probably benign |
Het |
| Synpo2 |
A |
G |
3: 122,873,546 (GRCm39) |
V1140A |
probably benign |
Het |
| Thada |
A |
G |
17: 84,538,524 (GRCm39) |
F1495L |
probably benign |
Het |
| Timeless |
A |
G |
10: 128,077,294 (GRCm39) |
|
probably null |
Het |
| Tlr6 |
G |
T |
5: 65,112,548 (GRCm39) |
H120N |
possibly damaging |
Het |
| Tns3 |
T |
C |
11: 8,395,703 (GRCm39) |
I1234V |
probably benign |
Het |
| Ttll9 |
A |
G |
2: 152,842,099 (GRCm39) |
S318G |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,830,197 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
T |
C |
4: 147,910,899 (GRCm39) |
I232M |
probably benign |
Het |
| Zfyve27 |
T |
C |
19: 42,178,024 (GRCm39) |
S382P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTTCAAGGGGCTGTGTGATTTC -3'
(R):5'- AACCTGAGGACCCATGCTGTTCTG -3'
Sequencing Primer
(F):5'- TTTGTCCCAACTGCATCAAAG -3'
(R):5'- ATGCtgttctgttttgttttgttttg -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation