Incidental Mutation 'R4605:Zkscan2'
| ID |
345968 |
| 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: 0.096)
|
| Stock # |
R4605 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
123074607-123099672 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123097947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 150
(W150R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042470]
[ENSMUST00000128217]
|
| AlphaFold |
G3X952 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042470
AA Change: W150R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041821
Gene: ENSMUSG00000030757
AA Change: W150R
| 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 damaging
Transcript: ENSMUST00000128217
AA Change: W150R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134381
Gene: ENSMUSG00000030757
AA Change: W150R
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankra2 |
A |
G |
13: 98,402,742 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
T |
A |
18: 80,796,364 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,946,929 (GRCm39) |
D2885N |
probably damaging |
Het |
| Chaf1b |
A |
T |
16: 93,684,977 (GRCm39) |
N142I |
possibly damaging |
Het |
| Ckap5 |
G |
A |
2: 91,406,559 (GRCm39) |
G787S |
probably damaging |
Het |
| Ctc1 |
G |
T |
11: 68,920,552 (GRCm39) |
C372F |
possibly damaging |
Het |
| Dip2b |
A |
G |
15: 100,107,517 (GRCm39) |
T1176A |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,779,550 (GRCm39) |
E132G |
probably damaging |
Het |
| Extl1 |
A |
G |
4: 134,087,145 (GRCm39) |
V471A |
probably benign |
Het |
| Fgd6 |
T |
C |
10: 93,880,217 (GRCm39) |
L357P |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,618,549 (GRCm39) |
C275S |
probably damaging |
Het |
| Kcnj2 |
G |
A |
11: 110,963,676 (GRCm39) |
C356Y |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,456,219 (GRCm39) |
D204G |
probably damaging |
Het |
| Krtap9-1 |
A |
C |
11: 99,764,579 (GRCm39) |
E105A |
unknown |
Het |
| Loxhd1 |
G |
A |
18: 77,493,642 (GRCm39) |
V668I |
probably benign |
Het |
| Ly86 |
T |
C |
13: 37,558,987 (GRCm39) |
I62T |
possibly damaging |
Het |
| Maip1 |
A |
G |
1: 57,450,891 (GRCm39) |
I178V |
probably benign |
Het |
| Mical3 |
G |
A |
6: 121,011,041 (GRCm39) |
Q386* |
probably null |
Het |
| Or5an11 |
T |
C |
19: 12,246,532 (GRCm39) |
*313Q |
probably null |
Het |
| Or5b107 |
T |
A |
19: 13,142,612 (GRCm39) |
V78D |
probably damaging |
Het |
| Or5p52 |
A |
C |
7: 107,502,445 (GRCm39) |
I174L |
probably benign |
Het |
| Or8j3b |
G |
A |
2: 86,205,141 (GRCm39) |
T205I |
probably benign |
Het |
| Pcdha12 |
T |
C |
18: 37,154,576 (GRCm39) |
S432P |
probably damaging |
Het |
| Prex1 |
A |
T |
2: 166,555,464 (GRCm39) |
Y59N |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,684 (GRCm39) |
F654L |
probably damaging |
Het |
| Sh2d5 |
T |
A |
4: 137,984,566 (GRCm39) |
Y187* |
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,640,195 (GRCm39) |
|
probably null |
Het |
| Smyd2 |
A |
G |
1: 189,629,623 (GRCm39) |
S136P |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,267 (GRCm39) |
K971R |
probably benign |
Het |
| Srsf11 |
A |
T |
3: 157,728,560 (GRCm39) |
L115* |
probably null |
Het |
| Tbx19 |
C |
T |
1: 164,981,153 (GRCm39) |
V114I |
possibly damaging |
Het |
| Unc5b |
A |
G |
10: 60,610,182 (GRCm39) |
V545A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,642,998 (GRCm39) |
Y4120C |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTACTGAGTGAGCCATAGTG -3'
(R):5'- TTCCCAAATGACTGTGAGCC -3'
Sequencing Primer
(F):5'- GGATACAGTATAAACTACACGGTCTC -3'
(R):5'- AAATGACTGTGAGCCCGCTTC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation