Incidental Mutation 'IGL00743:Zkscan2'
| ID |
15034 |
| 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 # |
IGL00743
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
123074607-123099672 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123079195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 921
(S921P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042470]
|
| AlphaFold |
G3X952 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042470
AA Change: S921P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041821
Gene: ENSMUSG00000030757
AA Change: S921P
| 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: ENSMUST00000125356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206148
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
T |
C |
2: 150,461,606 (GRCm39) |
E659G |
probably benign |
Het |
| Adgrg6 |
A |
C |
10: 14,411,703 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,718,227 (GRCm39) |
K323E |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,424,416 (GRCm39) |
S628R |
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,950,395 (GRCm39) |
V443A |
probably benign |
Het |
| Bclaf3 |
T |
A |
X: 158,341,357 (GRCm39) |
F545Y |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,717,196 (GRCm39) |
Y88C |
probably damaging |
Het |
| Ccdc178 |
C |
T |
18: 22,278,501 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,875,153 (GRCm39) |
T312A |
probably benign |
Het |
| Chrnd |
G |
A |
1: 87,120,649 (GRCm39) |
W91* |
probably null |
Het |
| Cntln |
T |
C |
4: 84,897,652 (GRCm39) |
F413S |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,183,998 (GRCm39) |
I308N |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,736 (GRCm39) |
V258D |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,039,979 (GRCm39) |
P2044S |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hps6 |
A |
T |
19: 45,992,099 (GRCm39) |
D12V |
probably damaging |
Het |
| Hpse |
T |
C |
5: 100,846,865 (GRCm39) |
D188G |
probably benign |
Het |
| Id2 |
C |
A |
12: 25,145,355 (GRCm39) |
E123* |
probably null |
Het |
| Ints10 |
C |
T |
8: 69,271,985 (GRCm39) |
P562L |
probably damaging |
Het |
| Kctd10 |
G |
A |
5: 114,505,410 (GRCm39) |
R195C |
probably damaging |
Het |
| Kel |
A |
C |
6: 41,665,509 (GRCm39) |
L537R |
probably damaging |
Het |
| Kif19a |
T |
C |
11: 114,675,599 (GRCm39) |
V357A |
probably damaging |
Het |
| Lrrtm3 |
A |
T |
10: 63,924,988 (GRCm39) |
S60T |
probably damaging |
Het |
| Myof |
C |
A |
19: 37,949,382 (GRCm39) |
R608L |
probably benign |
Het |
| Naa35 |
A |
T |
13: 59,778,485 (GRCm39) |
I669F |
probably benign |
Het |
| Or8g2b |
A |
T |
9: 39,751,002 (GRCm39) |
I91F |
probably benign |
Het |
| Or8g53 |
A |
G |
9: 39,683,407 (GRCm39) |
S230P |
possibly damaging |
Het |
| Pclo |
G |
T |
5: 14,728,035 (GRCm39) |
|
probably benign |
Het |
| Pik3c3 |
C |
T |
18: 30,407,417 (GRCm39) |
S55F |
probably damaging |
Het |
| Prdm6 |
T |
G |
18: 53,673,300 (GRCm39) |
D153E |
possibly damaging |
Het |
| Rnf183 |
T |
C |
4: 62,346,610 (GRCm39) |
T63A |
probably benign |
Het |
| Samd4b |
A |
C |
7: 28,101,302 (GRCm39) |
I108S |
probably damaging |
Het |
| Slc9a7 |
T |
C |
X: 19,972,260 (GRCm39) |
D708G |
possibly damaging |
Het |
| Stim2 |
A |
G |
5: 54,210,835 (GRCm39) |
D90G |
probably benign |
Het |
| Tmem52b |
A |
G |
6: 129,493,678 (GRCm39) |
D97G |
probably damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,652,518 (GRCm39) |
R98G |
probably benign |
Het |
| Uxs1 |
C |
T |
1: 43,796,173 (GRCm39) |
V310I |
probably benign |
Het |
| Vcan |
A |
C |
13: 89,873,425 (GRCm39) |
M143R |
probably damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,504 (GRCm39) |
F792S |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,355,962 (GRCm39) |
I345T |
probably benign |
Het |
| Zfp938 |
A |
T |
10: 82,062,317 (GRCm39) |
M101K |
probably benign |
Het |
|
| Other mutations in Zkscan2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02098:Zkscan2
|
APN |
7 |
123,099,064 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03093:Zkscan2
|
APN |
7 |
123,094,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2012-12-06 |
Incidental Mutation