Incidental Mutation 'IGL03093:Zkscan2'
ID |
418453 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zkscan2
|
Ensembl Gene |
ENSMUSG00000030757 |
Gene Name |
zinc finger with KRAB and SCAN domains 2 |
Synonyms |
Zfp694, 9430065N20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
IGL03093
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
123074607-123099672 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123094073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 247
(Y247C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042470]
[ENSMUST00000128217]
|
AlphaFold |
G3X952 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042470
AA Change: Y247C
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000041821 Gene: ENSMUSG00000030757 AA Change: Y247C
Domain | Start | End | E-Value | Type |
SCAN
|
41 |
148 |
1.62e-54 |
SMART |
KRAB
|
222 |
282 |
1.71e-2 |
SMART |
SANT
|
333 |
397 |
3.73e0 |
SMART |
low complexity region
|
449 |
469 |
N/A |
INTRINSIC |
SANT
|
489 |
553 |
2.18e0 |
SMART |
low complexity region
|
627 |
649 |
N/A |
INTRINSIC |
ZnF_C2H2
|
768 |
790 |
6.42e-4 |
SMART |
ZnF_C2H2
|
796 |
818 |
7.9e-4 |
SMART |
ZnF_C2H2
|
824 |
846 |
5.99e-4 |
SMART |
ZnF_C2H2
|
852 |
874 |
3.21e-4 |
SMART |
ZnF_C2H2
|
880 |
902 |
1.18e-2 |
SMART |
ZnF_C2H2
|
908 |
930 |
8.81e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128217
|
SMART Domains |
Protein: ENSMUSP00000134381 Gene: ENSMUSG00000030757
Domain | Start | End | E-Value | Type |
SCAN
|
41 |
148 |
1.62e-54 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
A |
G |
19: 53,219,638 (GRCm39) |
D121G |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,043,802 (GRCm39) |
D1380G |
probably benign |
Het |
Clca3a1 |
T |
C |
3: 144,453,262 (GRCm39) |
Y487C |
probably damaging |
Het |
Coro2a |
A |
G |
4: 46,544,158 (GRCm39) |
S278P |
possibly damaging |
Het |
Creb3l3 |
A |
G |
10: 80,927,047 (GRCm39) |
S128P |
probably benign |
Het |
Dab2 |
A |
G |
15: 6,465,892 (GRCm39) |
R697G |
probably damaging |
Het |
Erap1 |
T |
C |
13: 74,823,399 (GRCm39) |
F811S |
probably benign |
Het |
Fam170b |
A |
G |
14: 32,557,482 (GRCm39) |
S106G |
probably damaging |
Het |
Galk2 |
T |
C |
2: 125,771,563 (GRCm39) |
L196P |
probably damaging |
Het |
Gan |
T |
C |
8: 117,910,314 (GRCm39) |
M81T |
probably benign |
Het |
Gemin2 |
A |
G |
12: 59,068,511 (GRCm39) |
T197A |
probably benign |
Het |
Hemgn |
A |
T |
4: 46,396,504 (GRCm39) |
M244K |
probably benign |
Het |
Htr6 |
A |
G |
4: 138,789,080 (GRCm39) |
F325S |
probably damaging |
Het |
Igkv9-120 |
A |
G |
6: 68,027,398 (GRCm39) |
D104G |
probably damaging |
Het |
Itpr2 |
A |
C |
6: 146,281,008 (GRCm39) |
I216S |
probably damaging |
Het |
Lingo1 |
T |
C |
9: 56,526,748 (GRCm39) |
I614V |
possibly damaging |
Het |
Mep1b |
C |
T |
18: 21,226,710 (GRCm39) |
T524M |
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,480,702 (GRCm39) |
|
probably benign |
Het |
Mylk |
G |
A |
16: 34,732,562 (GRCm39) |
R614H |
possibly damaging |
Het |
Or2ag2 |
T |
C |
7: 106,485,410 (GRCm39) |
T205A |
probably benign |
Het |
Or52s19 |
T |
C |
7: 103,007,446 (GRCm39) |
|
probably benign |
Het |
Pabpc4 |
G |
A |
4: 123,180,502 (GRCm39) |
D75N |
probably damaging |
Het |
Paics |
T |
A |
5: 77,109,355 (GRCm39) |
|
probably null |
Het |
Prl |
T |
A |
13: 27,248,870 (GRCm39) |
I172N |
probably benign |
Het |
Ripk2 |
A |
G |
4: 16,152,056 (GRCm39) |
S168P |
probably damaging |
Het |
Siglecf |
T |
C |
7: 43,001,865 (GRCm39) |
V225A |
probably damaging |
Het |
Slc36a1 |
A |
G |
11: 55,110,430 (GRCm39) |
I86V |
probably benign |
Het |
Slc6a13 |
A |
G |
6: 121,309,407 (GRCm39) |
Y306C |
probably damaging |
Het |
Soat2 |
T |
A |
15: 102,066,078 (GRCm39) |
L250Q |
probably damaging |
Het |
Tex38 |
A |
G |
4: 115,637,762 (GRCm39) |
S14P |
probably damaging |
Het |
Tm2d1 |
A |
T |
4: 98,268,921 (GRCm39) |
C59S |
possibly damaging |
Het |
Tmco1 |
A |
G |
1: 167,143,848 (GRCm39) |
D82G |
probably damaging |
Het |
Tmem245 |
G |
A |
4: 56,886,019 (GRCm39) |
R866W |
probably damaging |
Het |
Tnip1 |
G |
T |
11: 54,831,652 (GRCm39) |
Y7* |
probably null |
Het |
Trp73 |
A |
G |
4: 154,189,330 (GRCm39) |
M48T |
probably benign |
Het |
Tslp |
T |
C |
18: 32,948,612 (GRCm39) |
|
probably benign |
Het |
Usp47 |
T |
C |
7: 111,688,827 (GRCm39) |
F745L |
probably damaging |
Het |
Vmn2r53 |
T |
A |
7: 12,334,791 (GRCm39) |
T290S |
probably benign |
Het |
Wdr1 |
T |
C |
5: 38,718,472 (GRCm39) |
D30G |
probably benign |
Het |
|
Other mutations in Zkscan2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00743:Zkscan2
|
APN |
7 |
123,079,195 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02098:Zkscan2
|
APN |
7 |
123,099,064 (GRCm39) |
missense |
probably benign |
0.02 |
R0016:Zkscan2
|
UTSW |
7 |
123,099,219 (GRCm39) |
start gained |
probably benign |
|
R0135:Zkscan2
|
UTSW |
7 |
123,079,864 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0541:Zkscan2
|
UTSW |
7 |
123,079,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0569:Zkscan2
|
UTSW |
7 |
123,097,898 (GRCm39) |
missense |
probably benign |
0.11 |
R1537:Zkscan2
|
UTSW |
7 |
123,099,064 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1726:Zkscan2
|
UTSW |
7 |
123,089,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R3792:Zkscan2
|
UTSW |
7 |
123,084,225 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3802:Zkscan2
|
UTSW |
7 |
123,094,365 (GRCm39) |
intron |
probably benign |
|
R3803:Zkscan2
|
UTSW |
7 |
123,094,365 (GRCm39) |
intron |
probably benign |
|
R3804:Zkscan2
|
UTSW |
7 |
123,094,365 (GRCm39) |
intron |
probably benign |
|
R4012:Zkscan2
|
UTSW |
7 |
123,097,883 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4111:Zkscan2
|
UTSW |
7 |
123,081,907 (GRCm39) |
intron |
probably benign |
|
R4605:Zkscan2
|
UTSW |
7 |
123,097,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R4978:Zkscan2
|
UTSW |
7 |
123,094,542 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5004:Zkscan2
|
UTSW |
7 |
123,089,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R5163:Zkscan2
|
UTSW |
7 |
123,099,090 (GRCm39) |
missense |
probably benign |
0.01 |
R5753:Zkscan2
|
UTSW |
7 |
123,079,923 (GRCm39) |
missense |
probably benign |
|
R5830:Zkscan2
|
UTSW |
7 |
123,079,323 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6153:Zkscan2
|
UTSW |
7 |
123,088,993 (GRCm39) |
missense |
probably benign |
0.06 |
R6912:Zkscan2
|
UTSW |
7 |
123,099,196 (GRCm39) |
start gained |
probably benign |
|
R7170:Zkscan2
|
UTSW |
7 |
123,099,030 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7269:Zkscan2
|
UTSW |
7 |
123,088,994 (GRCm39) |
missense |
probably benign |
|
R7310:Zkscan2
|
UTSW |
7 |
123,089,276 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7399:Zkscan2
|
UTSW |
7 |
123,079,327 (GRCm39) |
missense |
probably damaging |
0.98 |
R7624:Zkscan2
|
UTSW |
7 |
123,097,994 (GRCm39) |
missense |
probably damaging |
0.97 |
R7687:Zkscan2
|
UTSW |
7 |
123,099,085 (GRCm39) |
missense |
probably benign |
0.13 |
R8236:Zkscan2
|
UTSW |
7 |
123,079,135 (GRCm39) |
missense |
probably benign |
0.01 |
R8443:Zkscan2
|
UTSW |
7 |
123,084,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R9365:Zkscan2
|
UTSW |
7 |
123,079,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R9411:Zkscan2
|
UTSW |
7 |
123,084,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R9531:Zkscan2
|
UTSW |
7 |
123,088,837 (GRCm39) |
missense |
probably damaging |
0.97 |
R9757:Zkscan2
|
UTSW |
7 |
123,079,310 (GRCm39) |
nonsense |
probably null |
|
Z1177:Zkscan2
|
UTSW |
7 |
123,079,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |