Incidental Mutation 'R5163:Zkscan2'
| ID |
397103 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5163 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
123074607-123099672 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123099090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 34
(E34G)
|
| 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: E34G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000041821
Gene: ENSMUSG00000030757
AA Change: E34G
| 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: E34G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000134381
Gene: ENSMUSG00000030757
AA Change: E34G
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
41 |
148 |
1.62e-54 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
| Btbd19 |
T |
G |
4: 116,978,628 (GRCm39) |
I152L |
probably damaging |
Het |
| Dnaaf11 |
T |
C |
15: 66,314,067 (GRCm39) |
D311G |
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,219,486 (GRCm39) |
R152H |
possibly damaging |
Het |
| Ercc6l2 |
A |
G |
13: 64,046,845 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,034,946 (GRCm39) |
D2866G |
probably damaging |
Het |
| Fkbp10 |
C |
T |
11: 100,313,925 (GRCm39) |
A311V |
probably benign |
Het |
| Fnbp1l |
T |
C |
3: 122,338,312 (GRCm39) |
N511S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gltp |
A |
G |
5: 114,812,122 (GRCm39) |
I147T |
probably benign |
Het |
| Gpr37 |
A |
T |
6: 25,669,614 (GRCm39) |
I410N |
possibly damaging |
Het |
| Hivep2 |
G |
A |
10: 14,015,169 (GRCm39) |
G1779R |
probably damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,599 (GRCm39) |
Y146C |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,449,432 (GRCm39) |
D662G |
possibly damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
| Map2k3 |
T |
A |
11: 60,834,317 (GRCm39) |
I95N |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,637,807 (GRCm39) |
I594T |
probably damaging |
Het |
| Mettl14 |
T |
C |
3: 123,168,474 (GRCm39) |
I189V |
possibly damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Odf4 |
C |
A |
11: 68,813,672 (GRCm39) |
C133F |
probably damaging |
Het |
| Opa1 |
A |
T |
16: 29,416,438 (GRCm39) |
Q106L |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,868,216 (GRCm39) |
N5S |
probably damaging |
Het |
| Pax4 |
T |
G |
6: 28,446,269 (GRCm39) |
S75R |
probably damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,923,629 (GRCm39) |
|
probably null |
Het |
| Ptpn20 |
T |
C |
14: 33,353,068 (GRCm39) |
I269T |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,360,192 (GRCm39) |
Q2161R |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,503,280 (GRCm39) |
D31G |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,664,817 (GRCm39) |
M296K |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,819,840 (GRCm39) |
T692A |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,325,165 (GRCm39) |
V769A |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,652,762 (GRCm39) |
F621I |
unknown |
Het |
| Spink5 |
A |
C |
18: 44,132,924 (GRCm39) |
R513S |
possibly damaging |
Het |
| Srrm2 |
C |
T |
17: 24,038,524 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
G |
5: 137,295,035 (GRCm39) |
|
probably null |
Het |
| Sun3 |
T |
C |
11: 8,973,295 (GRCm39) |
Q134R |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,155,979 (GRCm39) |
V174A |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,020,832 (GRCm39) |
R183G |
possibly damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,017 (GRCm39) |
V333A |
probably benign |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,664 (GRCm39) |
Q377R |
probably damaging |
Het |
| Zup1 |
T |
A |
10: 33,825,439 (GRCm39) |
E14D |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCAGCTGCTCGAGGATC -3'
(R):5'- GAGTTCCTTGTCCCAGCTAAC -3'
Sequencing Primer
(F):5'- CAGCTGCTCGAGGATCTGTTC -3'
(R):5'- ACGGTCCCATATTTCCAAGGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation