Incidental Mutation 'R4488:Zkscan16'
| ID |
330584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan16
|
| Ensembl Gene |
ENSMUSG00000038630 |
| Gene Name |
zinc finger with KRAB and SCAN domains 16 |
| Synonyms |
Zfp483 |
| MMRRC Submission |
041744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
58943628-58958355 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58957431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 571
(E571G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107554]
|
| AlphaFold |
A2ALW2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107554
AA Change: E571G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103178
Gene: ENSMUSG00000038630
AA Change: E571G
| 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 |
|
| Meta Mutation Damage Score |
0.3807 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal1 |
A |
T |
1: 6,429,631 (GRCm39) |
Q26L |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Brox |
A |
G |
1: 183,062,514 (GRCm39) |
L280S |
probably benign |
Het |
| Cep41 |
A |
T |
6: 30,655,688 (GRCm39) |
|
probably benign |
Het |
| Cryz |
C |
A |
3: 154,324,094 (GRCm39) |
|
probably benign |
Het |
| Cyp26c1 |
T |
C |
19: 37,681,658 (GRCm39) |
V487A |
probably benign |
Het |
| Dlx6 |
T |
C |
6: 6,867,207 (GRCm39) |
M270T |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,272,182 (GRCm39) |
I273T |
probably damaging |
Het |
| Glp1r |
A |
C |
17: 31,137,905 (GRCm39) |
H112P |
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,556 (GRCm39) |
V175A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,299,400 (GRCm39) |
T1878I |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,249,396 (GRCm39) |
F1303L |
possibly damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nutf2 |
T |
A |
8: 106,603,059 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,206,740 (GRCm39) |
S251P |
probably damaging |
Het |
| Rnaset2b |
A |
G |
17: 7,265,469 (GRCm39) |
Y155C |
probably damaging |
Het |
| Rnf122 |
A |
G |
8: 31,618,283 (GRCm39) |
T92A |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,347,011 (GRCm39) |
S134P |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,036,215 (GRCm39) |
I351F |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Sulf1 |
G |
T |
1: 12,856,739 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
C |
18: 5,049,067 (GRCm39) |
Y202H |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,737,993 (GRCm39) |
D681G |
possibly damaging |
Het |
| Tra2a |
A |
G |
6: 49,229,428 (GRCm39) |
|
probably benign |
Het |
| Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,819 (GRCm39) |
I841N |
probably damaging |
Het |
| Zfp949 |
T |
C |
9: 88,452,142 (GRCm39) |
S571P |
probably damaging |
Het |
| Zup1 |
G |
A |
10: 33,824,960 (GRCm39) |
T174I |
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 |
|
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 |
|
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 |
|
|
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'- GACGAATGTGGGAAGCGTTTC -3'
(R):5'- ACCTCAAATGCCGACTGAGG -3'
Sequencing Primer
(F):5'- CCCTACGTGTGTAAACACTGTGG -3'
(R):5'- GGAAACCTTTCTCACAGTGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation