Incidental Mutation 'IGL02901:Zkscan16'
ID |
363609 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zkscan16
|
Ensembl Gene |
ENSMUSG00000038630 |
Gene Name |
zinc finger with KRAB and SCAN domains 16 |
Synonyms |
Zfp483 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL02901
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
58943628-58958355 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58946283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 53
(W53R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107554]
|
AlphaFold |
A2ALW2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107554
AA Change: W53R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103178 Gene: ENSMUSG00000038630 AA Change: W53R
Domain | Start | End | E-Value | Type |
SCAN
|
44 |
153 |
1.9e-42 |
SMART |
KRAB
|
170 |
230 |
1.66e-20 |
SMART |
internal_repeat_1
|
281 |
452 |
7.49e-5 |
PROSPERO |
ZnF_C2H2
|
483 |
505 |
4.79e-3 |
SMART |
ZnF_C2H2
|
511 |
533 |
2.75e-3 |
SMART |
ZnF_C2H2
|
539 |
561 |
1.6e-4 |
SMART |
ZnF_C2H2
|
567 |
589 |
5.99e-4 |
SMART |
ZnF_C2H2
|
595 |
617 |
1.99e0 |
SMART |
ZnF_C2H2
|
623 |
645 |
5.14e-3 |
SMART |
ZnF_C2H2
|
651 |
673 |
2.65e-5 |
SMART |
ZnF_C2H2
|
679 |
701 |
1.82e-3 |
SMART |
ZnF_C2H2
|
706 |
725 |
4.74e1 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra1d |
A |
T |
2: 131,403,524 (GRCm39) |
Y189N |
probably damaging |
Het |
Ahdc1 |
A |
G |
4: 132,792,245 (GRCm39) |
D1162G |
possibly damaging |
Het |
Alpk2 |
A |
G |
18: 65,439,482 (GRCm39) |
M637T |
probably benign |
Het |
Arvcf |
G |
A |
16: 18,216,992 (GRCm39) |
A440T |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,532 (GRCm39) |
V51E |
probably damaging |
Het |
Clca3a2 |
A |
T |
3: 144,522,529 (GRCm39) |
V164E |
probably damaging |
Het |
Cox6a2 |
A |
C |
7: 127,805,454 (GRCm39) |
L5R |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,483,696 (GRCm39) |
L849* |
probably null |
Het |
Dclk1 |
A |
G |
3: 55,395,208 (GRCm39) |
|
probably benign |
Het |
Fam120b |
T |
A |
17: 15,627,964 (GRCm39) |
|
probably benign |
Het |
Iqub |
A |
G |
6: 24,454,194 (GRCm39) |
L563P |
probably damaging |
Het |
Itgb3 |
A |
T |
11: 104,528,772 (GRCm39) |
I300F |
probably benign |
Het |
Mdga2 |
A |
G |
12: 66,844,583 (GRCm39) |
|
probably benign |
Het |
Mfsd6 |
A |
G |
1: 52,747,632 (GRCm39) |
I411T |
probably benign |
Het |
Misp |
A |
T |
10: 79,662,771 (GRCm39) |
Y396F |
possibly damaging |
Het |
Nhsl2 |
T |
A |
X: 101,122,849 (GRCm39) |
V884D |
probably benign |
Het |
Nxf7 |
A |
T |
X: 134,487,984 (GRCm39) |
|
probably null |
Het |
Or10al4 |
T |
A |
17: 38,037,311 (GRCm39) |
I132K |
probably damaging |
Het |
Or4b12 |
G |
A |
2: 90,096,052 (GRCm39) |
H241Y |
probably damaging |
Het |
Palld |
T |
A |
8: 62,330,029 (GRCm39) |
K283* |
probably null |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Proc |
T |
G |
18: 32,256,678 (GRCm39) |
T330P |
possibly damaging |
Het |
Prpf38a |
T |
C |
4: 108,425,615 (GRCm39) |
D221G |
probably damaging |
Het |
Prss55 |
T |
A |
14: 64,314,576 (GRCm39) |
N198I |
probably damaging |
Het |
Rabggta |
A |
G |
14: 55,959,138 (GRCm39) |
S10P |
probably benign |
Het |
Sbk2 |
A |
G |
7: 4,960,289 (GRCm39) |
Y294H |
possibly damaging |
Het |
Smyd1 |
A |
G |
6: 71,215,614 (GRCm39) |
V115A |
probably benign |
Het |
Trpm7 |
A |
G |
2: 126,649,207 (GRCm39) |
|
probably null |
Het |
Ttc21a |
A |
G |
9: 119,787,347 (GRCm39) |
N751S |
probably damaging |
Het |
Upk1a |
A |
T |
7: 30,303,204 (GRCm39) |
M241K |
possibly damaging |
Het |
Vmn2r71 |
A |
C |
7: 85,268,470 (GRCm39) |
E224D |
probably benign |
Het |
Vmn2r81 |
C |
T |
10: 79,106,564 (GRCm39) |
T514I |
probably damaging |
Het |
|
Other mutations in Zkscan16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00467:Zkscan16
|
APN |
4 |
58,957,709 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01296:Zkscan16
|
APN |
4 |
58,956,690 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01330:Zkscan16
|
APN |
4 |
58,956,483 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02143:Zkscan16
|
APN |
4 |
58,956,911 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03399:Zkscan16
|
APN |
4 |
58,956,915 (GRCm39) |
missense |
probably benign |
0.33 |
R0271:Zkscan16
|
UTSW |
4 |
58,952,391 (GRCm39) |
missense |
probably benign |
0.33 |
R0317:Zkscan16
|
UTSW |
4 |
58,957,602 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0542:Zkscan16
|
UTSW |
4 |
58,956,597 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1417:Zkscan16
|
UTSW |
4 |
58,952,377 (GRCm39) |
missense |
probably benign |
0.33 |
R1674:Zkscan16
|
UTSW |
4 |
58,948,918 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2014:Zkscan16
|
UTSW |
4 |
58,956,525 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2246:Zkscan16
|
UTSW |
4 |
58,957,329 (GRCm39) |
missense |
probably benign |
0.09 |
R2352:Zkscan16
|
UTSW |
4 |
58,951,869 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2851:Zkscan16
|
UTSW |
4 |
58,957,364 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2852:Zkscan16
|
UTSW |
4 |
58,957,364 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3896:Zkscan16
|
UTSW |
4 |
58,946,125 (GRCm39) |
start gained |
probably benign |
|
R4488:Zkscan16
|
UTSW |
4 |
58,957,431 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4631:Zkscan16
|
UTSW |
4 |
58,951,918 (GRCm39) |
missense |
probably damaging |
0.98 |
R4825:Zkscan16
|
UTSW |
4 |
58,957,809 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4912:Zkscan16
|
UTSW |
4 |
58,946,506 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5014:Zkscan16
|
UTSW |
4 |
58,951,892 (GRCm39) |
missense |
probably damaging |
0.97 |
R5411:Zkscan16
|
UTSW |
4 |
58,956,745 (GRCm39) |
frame shift |
probably null |
|
R5642:Zkscan16
|
UTSW |
4 |
58,957,748 (GRCm39) |
missense |
probably benign |
0.11 |
R5809:Zkscan16
|
UTSW |
4 |
58,946,481 (GRCm39) |
missense |
probably damaging |
0.98 |
R6089:Zkscan16
|
UTSW |
4 |
58,948,889 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6152:Zkscan16
|
UTSW |
4 |
58,946,260 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6469:Zkscan16
|
UTSW |
4 |
58,956,483 (GRCm39) |
missense |
probably damaging |
0.98 |
R7662:Zkscan16
|
UTSW |
4 |
58,957,679 (GRCm39) |
nonsense |
probably null |
|
R7790:Zkscan16
|
UTSW |
4 |
58,951,843 (GRCm39) |
nonsense |
probably null |
|
R8150:Zkscan16
|
UTSW |
4 |
58,952,407 (GRCm39) |
missense |
probably benign |
0.06 |
R8359:Zkscan16
|
UTSW |
4 |
58,957,230 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9022:Zkscan16
|
UTSW |
4 |
58,957,021 (GRCm39) |
missense |
probably benign |
0.03 |
R9133:Zkscan16
|
UTSW |
4 |
58,957,722 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9641:Zkscan16
|
UTSW |
4 |
58,956,577 (GRCm39) |
missense |
probably benign |
0.00 |
R9745:Zkscan16
|
UTSW |
4 |
58,957,473 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0020:Zkscan16
|
UTSW |
4 |
58,956,747 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1176:Zkscan16
|
UTSW |
4 |
58,957,052 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zkscan16
|
UTSW |
4 |
58,948,909 (GRCm39) |
missense |
probably benign |
0.07 |
|
Posted On |
2015-12-18 |