Incidental Mutation 'IGL02739:Zkscan17'
| ID |
305795 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zkscan17
|
| Ensembl Gene |
ENSMUSG00000020472 |
| Gene Name |
zinc finger with KRAB and SCAN domains 17 |
| Synonyms |
Zfp496, Nizp1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02739
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
59376346-59397466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 59394352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 83
(E83A)
|
| 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: E83A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000013262
Gene: ENSMUSG00000020472
AA Change: E83A
| 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: ENSMUST00000138763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145533
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,026,364 (GRCm39) |
C887S |
possibly damaging |
Het |
| Adamdec1 |
C |
A |
14: 68,807,605 (GRCm39) |
E352* |
probably null |
Het |
| Bglap2 |
A |
T |
3: 88,285,319 (GRCm39) |
|
probably null |
Het |
| Bsn |
A |
T |
9: 107,989,745 (GRCm39) |
H2002Q |
probably benign |
Het |
| Chtop |
T |
A |
3: 90,409,557 (GRCm39) |
Q165L |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,263,714 (GRCm39) |
|
probably null |
Het |
| Ctsr |
T |
C |
13: 61,309,658 (GRCm39) |
T184A |
probably benign |
Het |
| Defb36 |
T |
C |
2: 152,446,439 (GRCm39) |
L11P |
unknown |
Het |
| Dock8 |
A |
G |
19: 25,165,852 (GRCm39) |
E1912G |
probably damaging |
Het |
| Dpp3 |
A |
G |
19: 4,973,756 (GRCm39) |
Y106H |
probably damaging |
Het |
| Epas1 |
A |
G |
17: 87,112,710 (GRCm39) |
T103A |
probably damaging |
Het |
| Epcam |
A |
T |
17: 87,947,922 (GRCm39) |
T131S |
probably benign |
Het |
| Fam169a |
A |
G |
13: 97,230,563 (GRCm39) |
|
probably benign |
Het |
| Gh |
T |
A |
11: 106,192,559 (GRCm39) |
|
probably benign |
Het |
| Kif20a |
A |
T |
18: 34,761,996 (GRCm39) |
K399* |
probably null |
Het |
| Lrp1b |
A |
G |
2: 41,388,227 (GRCm39) |
I466T |
probably damaging |
Het |
| Nlk |
A |
G |
11: 78,465,677 (GRCm39) |
V409A |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,693,731 (GRCm39) |
|
probably null |
Het |
| Nr2c1 |
T |
A |
10: 93,992,834 (GRCm39) |
M16K |
probably damaging |
Het |
| Nxph2 |
A |
T |
2: 23,289,912 (GRCm39) |
Q88L |
probably benign |
Het |
| Or51a39 |
A |
G |
7: 102,363,521 (GRCm39) |
I33T |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,703,895 (GRCm39) |
R680S |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,404,346 (GRCm39) |
N2325I |
probably benign |
Het |
| Pnliprp2 |
T |
C |
19: 58,748,941 (GRCm39) |
|
probably null |
Het |
| Ppp1r42 |
T |
A |
1: 10,039,078 (GRCm39) |
K347N |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,758,867 (GRCm39) |
V407A |
possibly damaging |
Het |
| Psmb8 |
C |
A |
17: 34,419,728 (GRCm39) |
S194* |
probably null |
Het |
| Rnf214 |
T |
C |
9: 45,780,772 (GRCm39) |
I406V |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,077,797 (GRCm39) |
S3L |
probably damaging |
Het |
| Sdad1 |
C |
T |
5: 92,437,931 (GRCm39) |
A539T |
probably benign |
Het |
| Sema3a |
A |
G |
5: 13,501,128 (GRCm39) |
Y57C |
probably damaging |
Het |
| Susd5 |
A |
G |
9: 113,925,101 (GRCm39) |
E328G |
possibly damaging |
Het |
| Syngr3 |
T |
C |
17: 24,905,372 (GRCm39) |
T175A |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,740,281 (GRCm39) |
Q390L |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,071,721 (GRCm39) |
T2423A |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 65,084,469 (GRCm39) |
N36S |
probably benign |
Het |
| Uchl4 |
C |
T |
9: 64,142,819 (GRCm39) |
T100M |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,612,129 (GRCm39) |
K11R |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,880,046 (GRCm39) |
D3040E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,941,885 (GRCm39) |
Y640* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation