Incidental Mutation 'R6152:Zkscan16'
| ID |
489328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan16
|
| Ensembl Gene |
ENSMUSG00000038630 |
| Gene Name |
zinc finger with KRAB and SCAN domains 16 |
| Synonyms |
Zfp483 |
| MMRRC Submission |
044299-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6152 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
58943628-58958355 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58946260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 45
(E45G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107554]
|
| AlphaFold |
A2ALW2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107554
AA Change: E45G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103178
Gene: ENSMUSG00000038630
AA Change: E45G
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,204,187 (GRCm39) |
C363R |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Anln |
A |
C |
9: 22,271,803 (GRCm39) |
I684R |
probably damaging |
Het |
| Atoh7 |
A |
T |
10: 62,936,278 (GRCm39) |
D115V |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,896,100 (GRCm39) |
I223K |
probably damaging |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,961,419 (GRCm39) |
C345S |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,823,358 (GRCm39) |
E1003G |
possibly damaging |
Het |
| Chpf |
C |
T |
1: 75,452,287 (GRCm39) |
R389H |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,593,881 (GRCm39) |
D740G |
possibly damaging |
Het |
| Col19a1 |
T |
C |
1: 24,413,702 (GRCm39) |
T411A |
unknown |
Het |
| Dgat2 |
T |
C |
7: 98,813,885 (GRCm39) |
N99S |
probably benign |
Het |
| Fbxo7 |
A |
T |
10: 85,860,560 (GRCm39) |
T56S |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,974,950 (GRCm39) |
Q71L |
unknown |
Het |
| Gpr161 |
T |
A |
1: 165,137,864 (GRCm39) |
V150E |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,441,176 (GRCm39) |
E5360G |
probably damaging |
Het |
| Hmg20a |
A |
G |
9: 56,388,892 (GRCm39) |
D153G |
probably damaging |
Het |
| Hrct1 |
T |
A |
4: 43,727,498 (GRCm39) |
V46D |
possibly damaging |
Het |
| Idh1 |
T |
C |
1: 65,198,689 (GRCm39) |
T394A |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,836,598 (GRCm39) |
I547T |
unknown |
Het |
| Klhdc3 |
A |
T |
17: 46,988,633 (GRCm39) |
I142N |
probably damaging |
Het |
| Lrrc39 |
G |
T |
3: 116,364,624 (GRCm39) |
|
probably null |
Het |
| Mamdc4 |
T |
C |
2: 25,457,451 (GRCm39) |
D510G |
probably damaging |
Het |
| Mcm2 |
TTCTGATAGATGGTCTG |
TTCTG |
6: 88,866,891 (GRCm39) |
|
probably benign |
Het |
| Ndfip2 |
A |
G |
14: 105,535,538 (GRCm39) |
I275V |
possibly damaging |
Het |
| Or1i2 |
T |
C |
10: 78,448,409 (GRCm39) |
D22G |
probably benign |
Het |
| Or5b24 |
A |
T |
19: 12,912,851 (GRCm39) |
I250L |
probably benign |
Het |
| Pacsin2 |
A |
C |
15: 83,261,900 (GRCm39) |
D154E |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,886 (GRCm39) |
C755* |
probably null |
Het |
| Pcnx2 |
T |
C |
8: 126,480,491 (GRCm39) |
S1939G |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,825,985 (GRCm39) |
H602Q |
probably benign |
Het |
| Pon3 |
G |
A |
6: 5,221,716 (GRCm39) |
R305C |
probably damaging |
Het |
| Prpf6 |
A |
G |
2: 181,263,580 (GRCm39) |
R147G |
probably damaging |
Het |
| Sh3yl1 |
A |
G |
12: 30,992,034 (GRCm39) |
E201G |
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,982,210 (GRCm39) |
Y22H |
probably damaging |
Het |
| Sult6b2 |
A |
C |
6: 142,750,102 (GRCm39) |
S5R |
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tysnd1 |
A |
G |
10: 61,532,113 (GRCm39) |
D255G |
probably damaging |
Het |
| Zbtb6 |
A |
C |
2: 37,319,255 (GRCm39) |
I224M |
probably benign |
Het |
| Zdhhc8 |
G |
T |
16: 18,041,202 (GRCm39) |
N719K |
possibly 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 |
|
|
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 |
|
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'- GCCGTGCATAGATAGTACCTG -3'
(R):5'- AAATCCTCATCTCTCCAGGCAG -3'
Sequencing Primer
(F):5'- AGATAGTACCTGTTGGCAGATCCC -3'
(R):5'- TCCAGGCAGAACCCTCAGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation