Incidental Mutation 'R6101:Zkscan17'
ID |
485268 |
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 |
044251-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6101 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
59376346-59397466 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59394401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 67
(C67S)
|
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: C67S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000013262 Gene: ENSMUSG00000020472 AA Change: C67S
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: ENSMUST00000137442
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145533
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139093
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138763
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
A |
T |
8: 25,460,775 (GRCm39) |
C570S |
probably damaging |
Het |
Adh6b |
T |
A |
3: 138,063,471 (GRCm39) |
I350K |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,981,463 (GRCm39) |
V916I |
probably benign |
Het |
Aldh4a1 |
C |
T |
4: 139,365,806 (GRCm39) |
P266S |
possibly damaging |
Het |
Arhgap11a |
G |
A |
2: 113,665,219 (GRCm39) |
R460* |
probably null |
Het |
Chl1 |
A |
T |
6: 103,669,993 (GRCm39) |
D477V |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,438,629 (GRCm39) |
L45Q |
probably damaging |
Het |
Cnot7 |
C |
T |
8: 40,963,078 (GRCm39) |
R32Q |
probably benign |
Het |
Csrnp1 |
T |
C |
9: 119,802,551 (GRCm39) |
D220G |
probably damaging |
Het |
Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
Glul |
T |
A |
1: 153,782,177 (GRCm39) |
Y137* |
probably null |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Igha |
T |
A |
12: 113,220,017 (GRCm39) |
|
probably benign |
Het |
Kif2b |
A |
G |
11: 91,466,814 (GRCm39) |
S490P |
probably benign |
Het |
Kxd1 |
A |
T |
8: 70,972,589 (GRCm39) |
N33K |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,607,338 (GRCm39) |
I567T |
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,016,749 (GRCm39) |
D355G |
probably damaging |
Het |
Map6 |
T |
C |
7: 98,917,314 (GRCm39) |
V29A |
probably damaging |
Het |
Mical3 |
A |
T |
6: 121,010,671 (GRCm39) |
V437D |
probably damaging |
Het |
Mief1 |
T |
C |
15: 80,133,941 (GRCm39) |
Y333H |
probably benign |
Het |
Or12j4 |
T |
A |
7: 140,046,432 (GRCm39) |
V106D |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,598 (GRCm39) |
F158L |
probably benign |
Het |
Or8b52 |
A |
G |
9: 38,576,916 (GRCm39) |
S75P |
probably damaging |
Het |
Or8d2b |
T |
C |
9: 38,788,604 (GRCm39) |
L44P |
possibly damaging |
Het |
Pak1ip1 |
T |
A |
13: 41,158,361 (GRCm39) |
L78Q |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,303,504 (GRCm39) |
|
probably null |
Het |
Pinlyp |
C |
T |
7: 24,245,405 (GRCm39) |
R5K |
possibly damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,367,478 (GRCm39) |
D1225G |
probably damaging |
Het |
Pnma8b |
T |
A |
7: 16,680,493 (GRCm39) |
S492R |
probably benign |
Het |
Postn |
A |
G |
3: 54,279,641 (GRCm39) |
|
probably null |
Het |
Ptprq |
A |
G |
10: 107,416,127 (GRCm39) |
Y1724H |
possibly damaging |
Het |
Rpn2 |
T |
A |
2: 157,152,108 (GRCm39) |
|
probably null |
Het |
Scn5a |
A |
G |
9: 119,351,716 (GRCm39) |
V755A |
probably damaging |
Het |
Slc22a30 |
T |
C |
19: 8,315,232 (GRCm39) |
|
probably null |
Het |
Specc1l |
T |
C |
10: 75,084,466 (GRCm39) |
S730P |
probably damaging |
Het |
Steap2 |
T |
A |
5: 5,725,891 (GRCm39) |
I378F |
possibly damaging |
Het |
Tdrd12 |
A |
T |
7: 35,180,558 (GRCm39) |
Y818* |
probably null |
Het |
Thbs4 |
G |
T |
13: 92,911,993 (GRCm39) |
Q246K |
possibly damaging |
Het |
Tnfsf10 |
A |
G |
3: 27,389,698 (GRCm39) |
Y253C |
probably damaging |
Het |
Tnpo3 |
G |
T |
6: 29,588,042 (GRCm39) |
C125* |
probably null |
Het |
Trim58 |
A |
G |
11: 58,542,441 (GRCm39) |
N467S |
probably benign |
Het |
Trpm6 |
C |
T |
19: 18,831,112 (GRCm39) |
R1326* |
probably null |
Het |
Zc3hav1l |
A |
G |
6: 38,270,012 (GRCm39) |
V279A |
probably benign |
Het |
Zfp618 |
A |
T |
4: 63,051,478 (GRCm39) |
Q753L |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
R3898:Zkscan17
|
UTSW |
11 |
59,394,263 (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 |
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'- AAGTCTCACAGGGTCAGCAAG -3'
(R):5'- AGTCTTGGCTCCAAAGGAAAGTG -3'
Sequencing Primer
(F):5'- TGCTCACCCACTGCCAG -3'
(R):5'- CTCCAAAGGAAAGTGAGGAGCC -3'
|
Posted On |
2017-08-16 |