Incidental Mutation 'R1417:Zkscan16'
ID |
159847 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zkscan16
|
Ensembl Gene |
ENSMUSG00000038630 |
Gene Name |
zinc finger with KRAB and SCAN domains 16 |
Synonyms |
Zfp483 |
MMRRC Submission |
039473-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R1417 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
58943628-58958355 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58952377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 225
(V225A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107554]
|
AlphaFold |
A2ALW2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107554
AA Change: V225A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103178 Gene: ENSMUSG00000038630 AA Change: V225A
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 |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp13a5 |
A |
G |
16: 29,117,053 (GRCm39) |
V565A |
probably benign |
Het |
Atp6v1b1 |
T |
C |
6: 83,730,862 (GRCm39) |
S196P |
probably damaging |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
Clu |
T |
A |
14: 66,212,420 (GRCm39) |
Y124* |
probably null |
Het |
Cnnm1 |
A |
G |
19: 43,458,162 (GRCm39) |
E658G |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,846,573 (GRCm39) |
E2913G |
probably damaging |
Het |
Edc4 |
G |
A |
8: 106,614,487 (GRCm39) |
|
probably null |
Het |
Enox1 |
C |
T |
14: 77,723,445 (GRCm39) |
|
probably benign |
Het |
G6pc2 |
T |
C |
2: 69,053,312 (GRCm39) |
V122A |
probably damaging |
Het |
Galns |
T |
C |
8: 123,311,652 (GRCm39) |
S453G |
possibly damaging |
Het |
Gm12185 |
A |
C |
11: 48,798,669 (GRCm39) |
V608G |
probably damaging |
Het |
Hbq1a |
A |
G |
11: 32,250,722 (GRCm39) |
D135G |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,244,947 (GRCm39) |
T891A |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,413,993 (GRCm39) |
Y1445C |
probably damaging |
Het |
Ipo8 |
C |
T |
6: 148,719,550 (GRCm39) |
D132N |
probably benign |
Het |
Klhl11 |
T |
C |
11: 100,363,115 (GRCm39) |
E147G |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,764,311 (GRCm39) |
V41D |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,894,653 (GRCm39) |
I2306V |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,636,425 (GRCm39) |
V1514A |
probably benign |
Het |
Lrrtm2 |
A |
T |
18: 35,347,011 (GRCm39) |
I97N |
probably damaging |
Het |
Mtmr3 |
C |
A |
11: 4,437,923 (GRCm39) |
V844L |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,197,011 (GRCm39) |
E1832G |
probably damaging |
Het |
Or4n5 |
T |
A |
14: 50,133,020 (GRCm39) |
R80* |
probably null |
Het |
Pcdhb16 |
A |
G |
18: 37,611,180 (GRCm39) |
T47A |
probably benign |
Het |
Pfkp |
T |
C |
13: 6,655,755 (GRCm39) |
K293E |
probably benign |
Het |
Phlpp2 |
G |
T |
8: 110,667,313 (GRCm39) |
E1281* |
probably null |
Het |
Prss23 |
T |
A |
7: 89,159,392 (GRCm39) |
T226S |
probably damaging |
Het |
Slc8a1 |
T |
G |
17: 81,715,709 (GRCm39) |
M775L |
probably damaging |
Het |
Stx12 |
A |
G |
4: 132,587,853 (GRCm39) |
|
probably null |
Het |
Syt11 |
A |
T |
3: 88,669,289 (GRCm39) |
I201N |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,783,327 (GRCm39) |
N543S |
probably damaging |
Het |
Usf3 |
A |
G |
16: 44,037,812 (GRCm39) |
N764S |
probably benign |
Het |
Xylb |
A |
G |
9: 119,193,606 (GRCm39) |
D100G |
probably benign |
Het |
Zfp423 |
T |
C |
8: 88,500,284 (GRCm39) |
|
probably null |
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 |
IGL02901:Zkscan16
|
APN |
4 |
58,946,283 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TATCTTCTGGGCATCTGGGACCTG -3'
(R):5'- GGCGAGGCTCTTTCCTAATCCATC -3'
Sequencing Primer
(F):5'- ATCTGGGACCTGACATGACTG -3'
(R):5'- GCTCTTTCCTAATCCATCAACCG -3'
|
Posted On |
2014-03-14 |