Incidental Mutation 'R3898:Zkscan17'
| ID |
309065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan17
|
| Ensembl Gene |
ENSMUSG00000020472 |
| Gene Name |
zinc finger with KRAB and SCAN domains 17 |
| Synonyms |
Zfp496, Nizp1 |
| MMRRC Submission |
040906-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3898 (G1)
|
| Quality Score |
138 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
59376346-59397466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59394263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 113
(A113T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013262]
[ENSMUST00000101150]
|
| AlphaFold |
Q5SXI5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013262
AA Change: A113T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000013262
Gene: ENSMUSG00000020472
AA Change: A113T
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
38 |
149 |
1.99e-54 |
SMART |
|
KRAB
|
219 |
273 |
8.69e-1 |
SMART |
|
ZnF_C2H2
|
405 |
425 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
433 |
455 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
461 |
483 |
3.63e-3 |
SMART |
|
low complexity region
|
493 |
508 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
520 |
543 |
6.13e-1 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
1.56e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101150
|
| SMART Domains |
Protein: ENSMUSP00000098709
Gene: ENSMUSG00000020472
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
63 |
117 |
8.69e-1 |
SMART |
|
ZnF_C2H2
|
249 |
269 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
3.63e-3 |
SMART |
|
low complexity region
|
337 |
352 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
364 |
387 |
6.13e-1 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
1.56e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130570
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145533
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg1 |
A |
C |
16: 5,054,253 (GRCm39) |
I154L |
possibly damaging |
Het |
| Ankra2 |
C |
T |
13: 98,410,317 (GRCm39) |
L136F |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
| Cabyr |
T |
C |
18: 12,884,580 (GRCm39) |
S356P |
probably benign |
Het |
| Cad |
G |
T |
5: 31,231,366 (GRCm39) |
C1633F |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,528,125 (GRCm39) |
R425W |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,912,799 (GRCm39) |
K593E |
possibly damaging |
Het |
| Cdh8 |
T |
A |
8: 99,898,005 (GRCm39) |
E436V |
probably damaging |
Het |
| Cfap95 |
A |
G |
19: 23,570,466 (GRCm39) |
V101A |
probably benign |
Het |
| Cln6 |
T |
G |
9: 62,757,934 (GRCm39) |
F231C |
probably damaging |
Het |
| Cul2 |
A |
G |
18: 3,434,033 (GRCm39) |
K677E |
probably benign |
Het |
| Cyp2c69 |
T |
C |
19: 39,864,834 (GRCm39) |
I215V |
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,399,790 (GRCm39) |
D393G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,282,417 (GRCm39) |
V2850A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Drg2 |
T |
A |
11: 60,347,460 (GRCm39) |
S50T |
probably benign |
Het |
| Ecscr |
A |
G |
18: 35,846,705 (GRCm39) |
S230P |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,261,404 (GRCm39) |
V527A |
probably damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,719 (GRCm39) |
R241H |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
| Fli1 |
C |
T |
9: 32,388,018 (GRCm39) |
G24R |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 73,992,346 (GRCm39) |
D71G |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,244,312 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,277,018 (GRCm39) |
F713S |
probably damaging |
Het |
| H2-Q2 |
C |
T |
17: 35,561,743 (GRCm39) |
P78S |
probably damaging |
Het |
| Kcnq2 |
C |
T |
2: 180,751,479 (GRCm39) |
A306T |
probably damaging |
Het |
| Lmntd1 |
G |
A |
6: 145,359,152 (GRCm39) |
P333S |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,427,969 (GRCm39) |
R535* |
probably null |
Het |
| Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
G |
A |
11: 71,013,700 (GRCm39) |
P517S |
probably benign |
Het |
| Or2y13 |
A |
T |
11: 49,415,386 (GRCm39) |
I279F |
probably damaging |
Het |
| Pou4f1 |
T |
C |
14: 104,703,165 (GRCm39) |
*422W |
probably null |
Het |
| Ptpn14 |
C |
T |
1: 189,582,728 (GRCm39) |
P525L |
probably benign |
Het |
| Pyroxd2 |
C |
A |
19: 42,728,831 (GRCm39) |
G190C |
probably damaging |
Het |
| Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,887,691 (GRCm39) |
|
noncoding transcript |
Het |
| Tbc1d5 |
A |
T |
17: 51,270,772 (GRCm39) |
F153Y |
probably damaging |
Het |
| Thop1 |
G |
A |
10: 80,916,278 (GRCm39) |
G429S |
probably damaging |
Het |
| Trim30d |
T |
A |
7: 104,132,736 (GRCm39) |
I184L |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,997,983 (GRCm39) |
S1727G |
probably benign |
Het |
| Vezf1 |
T |
C |
11: 87,966,999 (GRCm39) |
F77L |
probably benign |
Het |
| Vmn2r12 |
C |
T |
5: 109,238,370 (GRCm39) |
A457T |
probably benign |
Het |
| Xirp1 |
A |
T |
9: 119,848,406 (GRCm39) |
M159K |
probably benign |
Het |
| Zyg11a |
T |
A |
4: 108,067,391 (GRCm39) |
N40Y |
probably damaging |
Het |
|
| Other mutations in Zkscan17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00544:Zkscan17
|
APN |
11 |
59,378,364 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01755:Zkscan17
|
APN |
11 |
59,378,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02739:Zkscan17
|
APN |
11 |
59,394,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03000:Zkscan17
|
APN |
11 |
59,377,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Zkscan17
|
APN |
11 |
59,378,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Zkscan17
|
UTSW |
11 |
59,378,455 (GRCm39) |
nonsense |
probably null |
|
|
R2005:Zkscan17
|
UTSW |
11 |
59,383,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3001:Zkscan17
|
UTSW |
11 |
59,378,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3002:Zkscan17
|
UTSW |
11 |
59,378,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Zkscan17
|
UTSW |
11 |
59,393,848 (GRCm39) |
start codon destroyed |
possibly damaging |
0.89 |
|
R4754:Zkscan17
|
UTSW |
11 |
59,393,851 (GRCm39) |
nonsense |
probably null |
|
|
R4959:Zkscan17
|
UTSW |
11 |
59,394,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4978:Zkscan17
|
UTSW |
11 |
59,384,053 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5399:Zkscan17
|
UTSW |
11 |
59,393,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5762:Zkscan17
|
UTSW |
11 |
59,378,397 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5788:Zkscan17
|
UTSW |
11 |
59,378,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6101:Zkscan17
|
UTSW |
11 |
59,394,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6105:Zkscan17
|
UTSW |
11 |
59,394,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Zkscan17
|
UTSW |
11 |
59,393,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8098:Zkscan17
|
UTSW |
11 |
59,394,410 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8161:Zkscan17
|
UTSW |
11 |
59,393,770 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8210:Zkscan17
|
UTSW |
11 |
59,394,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Zkscan17
|
UTSW |
11 |
59,378,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGGACTTGATGGGTAAC -3'
(R):5'- CACGAGTCTTGGCTCCAAAG -3'
Sequencing Primer
(F):5'- GGACTTGATGGGTAACAATCATCTC -3'
(R):5'- TCTTGGCTCCAAAGGAAAGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation