Incidental Mutation 'IGL02098:Zkscan2'
| ID |
279668 |
| 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: 0.082)
|
| Stock # |
IGL02098
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
123074607-123099672 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123099064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 43
(S43T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042470]
[ENSMUST00000128217]
|
| AlphaFold |
G3X952 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042470
AA Change: S43T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000041821
Gene: ENSMUSG00000030757
AA Change: S43T
| 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
AA Change: S43T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000134381
Gene: ENSMUSG00000030757
AA Change: S43T
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
C |
T |
8: 41,208,680 (GRCm39) |
P649S |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,786 (GRCm39) |
R788* |
probably null |
Het |
| Ccdc18 |
A |
G |
5: 108,349,977 (GRCm39) |
E1043G |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,250,655 (GRCm39) |
H691Q |
probably damaging |
Het |
| Cts7 |
G |
T |
13: 61,504,343 (GRCm39) |
F73L |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Eef1a2 |
G |
T |
2: 180,794,582 (GRCm39) |
P206T |
probably benign |
Het |
| Gcsh |
G |
T |
8: 117,715,875 (GRCm39) |
S69R |
probably damaging |
Het |
| Gm9989 |
T |
A |
3: 81,829,528 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv6-25 |
C |
T |
6: 70,192,719 (GRCm39) |
T42I |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,975,663 (GRCm39) |
Y684C |
probably damaging |
Het |
| Kif6 |
G |
A |
17: 50,177,922 (GRCm39) |
G602D |
probably benign |
Het |
| Klb |
C |
A |
5: 65,537,228 (GRCm39) |
R853S |
probably benign |
Het |
| Mad1l1 |
A |
C |
5: 140,296,344 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,655,768 (GRCm39) |
N1077D |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,183,276 (GRCm39) |
S1858T |
possibly damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,407,952 (GRCm39) |
E984G |
possibly damaging |
Het |
| Necab1 |
T |
A |
4: 14,955,892 (GRCm39) |
|
probably benign |
Het |
| Nexn |
G |
A |
3: 151,949,540 (GRCm39) |
R253* |
probably null |
Het |
| Npc1l1 |
A |
G |
11: 6,164,581 (GRCm39) |
L1156P |
probably damaging |
Het |
| Or2y1 |
T |
A |
11: 49,386,224 (GRCm39) |
I288N |
probably damaging |
Het |
| Or5ac15 |
A |
T |
16: 58,940,433 (GRCm39) |
|
probably benign |
Het |
| Or5b99 |
A |
G |
19: 12,976,937 (GRCm39) |
I196V |
probably benign |
Het |
| Or8g17 |
A |
G |
9: 38,930,187 (GRCm39) |
S217P |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,520,248 (GRCm39) |
|
probably null |
Het |
| Rassf7 |
T |
C |
7: 140,798,203 (GRCm39) |
S381P |
possibly damaging |
Het |
| Rdh7 |
G |
T |
10: 127,720,607 (GRCm39) |
T255K |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,520,544 (GRCm39) |
I119F |
possibly damaging |
Het |
| Slc15a3 |
T |
A |
19: 10,826,042 (GRCm39) |
F244L |
probably damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,205 (GRCm39) |
S269G |
probably damaging |
Het |
| Teddm2 |
C |
T |
1: 153,726,081 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,611 (GRCm39) |
D1465G |
possibly damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation