Incidental Mutation 'R0682:Zkscan8'
| ID |
61028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan8
|
| Ensembl Gene |
ENSMUSG00000063894 |
| Gene Name |
zinc finger with KRAB and SCAN domains 8 |
| Synonyms |
2510038J07Rik, Zfp192, LD5-1, D430019P06Rik |
| MMRRC Submission |
038867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R0682 (G1)
|
| Quality Score |
132 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
21697391-21715284 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21710930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 60
(Y60C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045228]
[ENSMUST00000110481]
[ENSMUST00000156674]
[ENSMUST00000224362]
|
| AlphaFold |
Q8BSL0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045228
AA Change: Y60C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040248
Gene: ENSMUSG00000063894
AA Change: Y60C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
SCAN
|
48 |
160 |
1.07e-68 |
SMART |
|
KRAB
|
230 |
289 |
1.64e-10 |
SMART |
|
ZnF_C2H2
|
332 |
354 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
360 |
382 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
444 |
466 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
472 |
494 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
500 |
522 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
528 |
550 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
556 |
578 |
1.84e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110481
AA Change: Y60C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106107
Gene: ENSMUSG00000063894
AA Change: Y60C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
SCAN
|
48 |
145 |
3.33e-56 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156674
AA Change: Y60C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116058
Gene: ENSMUSG00000063894
AA Change: Y60C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
SCAN
|
48 |
160 |
1.07e-68 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224362
AA Change: Y60C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
C |
5: 146,121,650 (GRCm39) |
H83R |
probably benign |
Het |
| Abcd3 |
A |
C |
3: 121,563,216 (GRCm39) |
I471S |
possibly damaging |
Het |
| Abcg1 |
G |
A |
17: 31,330,225 (GRCm39) |
V509I |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,880,783 (GRCm39) |
N497K |
possibly damaging |
Het |
| Agap2 |
A |
G |
10: 126,919,351 (GRCm39) |
S479G |
unknown |
Het |
| Asic2 |
T |
C |
11: 80,777,506 (GRCm39) |
I402V |
possibly damaging |
Het |
| Atp1a2 |
G |
A |
1: 172,112,164 (GRCm39) |
T577I |
probably benign |
Het |
| Atraid |
T |
A |
5: 31,209,612 (GRCm39) |
I92K |
probably damaging |
Het |
| Dpp10 |
C |
A |
1: 123,832,852 (GRCm39) |
A31S |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,544,232 (GRCm39) |
F118L |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,119,222 (GRCm39) |
Y418C |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,389,263 (GRCm39) |
C3927S |
possibly damaging |
Het |
| Ifit2 |
G |
A |
19: 34,551,012 (GRCm39) |
R184H |
probably benign |
Het |
| Kif24 |
A |
T |
4: 41,428,620 (GRCm39) |
N113K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,185,653 (GRCm39) |
Y1354F |
probably benign |
Het |
| Muc1 |
T |
A |
3: 89,138,439 (GRCm39) |
I427N |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,359,406 (GRCm39) |
T1288A |
possibly damaging |
Het |
| Or7g32 |
C |
A |
9: 19,388,645 (GRCm39) |
M300I |
probably benign |
Het |
| Or9i14 |
C |
T |
19: 13,792,501 (GRCm39) |
C151Y |
possibly damaging |
Het |
| Pex26 |
T |
A |
6: 121,161,363 (GRCm39) |
V47E |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,436 (GRCm39) |
I871V |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,569 (GRCm39) |
I163N |
probably damaging |
Het |
| Rrp8 |
A |
C |
7: 105,383,218 (GRCm39) |
D349E |
probably damaging |
Het |
| Sdhd |
G |
T |
9: 50,511,905 (GRCm39) |
Q38K |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,098,718 (GRCm39) |
S117N |
probably damaging |
Het |
| Tbc1d2b |
A |
G |
9: 90,131,915 (GRCm39) |
M148T |
probably benign |
Het |
| Tnni3k |
A |
G |
3: 154,645,665 (GRCm39) |
S470P |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,679,877 (GRCm39) |
Q284* |
probably null |
Het |
| Trim30a |
A |
C |
7: 104,078,389 (GRCm39) |
V229G |
probably damaging |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Uck2 |
T |
C |
1: 167,064,259 (GRCm39) |
D90G |
probably damaging |
Het |
| Vmn1r229 |
A |
T |
17: 21,034,950 (GRCm39) |
E65V |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,129 (GRCm39) |
E568G |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,235,886 (GRCm39) |
E363G |
probably damaging |
Het |
| Wrap53 |
A |
G |
11: 69,453,272 (GRCm39) |
S390P |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,757,848 (GRCm39) |
S814P |
probably benign |
Het |
| Zfp329 |
A |
G |
7: 12,544,211 (GRCm39) |
C438R |
probably damaging |
Het |
|
| Other mutations in Zkscan8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Zkscan8
|
APN |
13 |
21,704,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01987:Zkscan8
|
APN |
13 |
21,710,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0129:Zkscan8
|
UTSW |
13 |
21,706,441 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0371:Zkscan8
|
UTSW |
13 |
21,710,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Zkscan8
|
UTSW |
13 |
21,710,765 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1688:Zkscan8
|
UTSW |
13 |
21,704,324 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1908:Zkscan8
|
UTSW |
13 |
21,709,325 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1912:Zkscan8
|
UTSW |
13 |
21,704,927 (GRCm39) |
nonsense |
probably null |
|
|
R2117:Zkscan8
|
UTSW |
13 |
21,704,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Zkscan8
|
UTSW |
13 |
21,704,759 (GRCm39) |
nonsense |
probably null |
|
|
R2214:Zkscan8
|
UTSW |
13 |
21,705,082 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2274:Zkscan8
|
UTSW |
13 |
21,705,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3624:Zkscan8
|
UTSW |
13 |
21,704,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5528:Zkscan8
|
UTSW |
13 |
21,704,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:Zkscan8
|
UTSW |
13 |
21,710,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Zkscan8
|
UTSW |
13 |
21,709,397 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6533:Zkscan8
|
UTSW |
13 |
21,704,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Zkscan8
|
UTSW |
13 |
21,709,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7837:Zkscan8
|
UTSW |
13 |
21,704,598 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7877:Zkscan8
|
UTSW |
13 |
21,704,580 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9342:Zkscan8
|
UTSW |
13 |
21,710,702 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9609:Zkscan8
|
UTSW |
13 |
21,709,434 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9623:Zkscan8
|
UTSW |
13 |
21,704,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCCAAACCCTGACTGTTTGTG -3'
(R):5'- AGAAAGCCTTCTTCAGCCCCATCTC -3'
Sequencing Primer
(F):5'- GCTTTCAGGAATTCAGTCACAGC -3'
(R):5'- TCTCCACCAGACCAGGCTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation