Incidental Mutation 'R6105:Zkscan17'
| ID |
485480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan17
|
| Ensembl Gene |
ENSMUSG00000020472 |
| Gene Name |
zinc finger with KRAB and SCAN domains 17 |
| Synonyms |
Zfp496, Nizp1 |
| MMRRC Submission |
044255-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6105 (G1)
|
| Quality Score |
92.0077 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
59376346-59397466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59394401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 67
(C67S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013262]
[ENSMUST00000101150]
|
| AlphaFold |
Q5SXI5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013262
AA Change: C67S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000013262
Gene: ENSMUSG00000020472
AA Change: C67S
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
38 |
149 |
1.99e-54 |
SMART |
|
KRAB
|
219 |
273 |
8.69e-1 |
SMART |
|
ZnF_C2H2
|
405 |
425 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
433 |
455 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
461 |
483 |
3.63e-3 |
SMART |
|
low complexity region
|
493 |
508 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
520 |
543 |
6.13e-1 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
1.56e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101150
|
| SMART Domains |
Protein: ENSMUSP00000098709
Gene: ENSMUSG00000020472
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
63 |
117 |
8.69e-1 |
SMART |
|
ZnF_C2H2
|
249 |
269 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
3.63e-3 |
SMART |
|
low complexity region
|
337 |
352 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
364 |
387 |
6.13e-1 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
1.56e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130570
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138763
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,347,812 (GRCm39) |
M3555T |
probably damaging |
Het |
| Adam9 |
A |
T |
8: 25,460,775 (GRCm39) |
C570S |
probably damaging |
Het |
| Adh6b |
T |
A |
3: 138,063,471 (GRCm39) |
I350K |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,981,463 (GRCm39) |
V916I |
probably benign |
Het |
| Aldh4a1 |
C |
T |
4: 139,365,806 (GRCm39) |
P266S |
possibly damaging |
Het |
| Cnot7 |
C |
T |
8: 40,963,078 (GRCm39) |
R32Q |
probably benign |
Het |
| Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Glul |
T |
A |
1: 153,782,177 (GRCm39) |
Y137* |
probably null |
Het |
| Ipo8 |
A |
G |
6: 148,700,168 (GRCm39) |
Y570H |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,466,814 (GRCm39) |
S490P |
probably benign |
Het |
| Kxd1 |
A |
T |
8: 70,972,589 (GRCm39) |
N33K |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,016,749 (GRCm39) |
D355G |
probably damaging |
Het |
| Map6 |
T |
C |
7: 98,917,314 (GRCm39) |
V29A |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,435,432 (GRCm39) |
D1116G |
probably damaging |
Het |
| Or4p23 |
T |
A |
2: 88,577,184 (GRCm39) |
H16L |
probably benign |
Het |
| Or8b52 |
A |
G |
9: 38,576,916 (GRCm39) |
S75P |
probably damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,604 (GRCm39) |
L44P |
possibly damaging |
Het |
| Pak1ip1 |
T |
A |
13: 41,158,361 (GRCm39) |
L78Q |
probably damaging |
Het |
| Phf10 |
C |
T |
17: 15,174,387 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
A |
G |
1: 65,303,504 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,367,478 (GRCm39) |
D1225G |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,279,641 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
T |
C |
19: 8,315,232 (GRCm39) |
|
probably null |
Het |
| Specc1l |
T |
C |
10: 75,084,466 (GRCm39) |
S730P |
probably damaging |
Het |
| Steap2 |
T |
A |
5: 5,725,891 (GRCm39) |
I378F |
possibly damaging |
Het |
| Sult4a1 |
T |
A |
15: 83,970,821 (GRCm39) |
K195* |
probably null |
Het |
| Tgfb1i1 |
T |
A |
7: 127,847,589 (GRCm39) |
|
probably null |
Het |
| Thbs4 |
G |
T |
13: 92,911,993 (GRCm39) |
Q246K |
possibly damaging |
Het |
| Tnfsf10 |
A |
G |
3: 27,389,698 (GRCm39) |
Y253C |
probably damaging |
Het |
| Tnpo3 |
G |
T |
6: 29,588,042 (GRCm39) |
C125* |
probably null |
Het |
| Trappc8 |
A |
G |
18: 20,979,504 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
C |
T |
19: 18,831,112 (GRCm39) |
R1326* |
probably null |
Het |
| Vmn2r19 |
A |
C |
6: 123,293,054 (GRCm39) |
E365D |
possibly damaging |
Het |
| Vps18 |
A |
G |
2: 119,119,543 (GRCm39) |
Y8C |
probably damaging |
Het |
| Zc3hav1l |
A |
G |
6: 38,270,012 (GRCm39) |
V279A |
probably benign |
Het |
| Zfp111 |
T |
C |
7: 23,902,791 (GRCm39) |
|
probably null |
Het |
| Zfp618 |
A |
T |
4: 63,051,478 (GRCm39) |
Q753L |
probably benign |
Het |
|
| Other mutations in Zkscan17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00544:Zkscan17
|
APN |
11 |
59,378,364 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01755:Zkscan17
|
APN |
11 |
59,378,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02739:Zkscan17
|
APN |
11 |
59,394,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03000:Zkscan17
|
APN |
11 |
59,377,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Zkscan17
|
APN |
11 |
59,378,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Zkscan17
|
UTSW |
11 |
59,378,455 (GRCm39) |
nonsense |
probably null |
|
|
R2005:Zkscan17
|
UTSW |
11 |
59,383,042 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3001:Zkscan17
|
UTSW |
11 |
59,378,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3002:Zkscan17
|
UTSW |
11 |
59,378,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Zkscan17
|
UTSW |
11 |
59,394,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Zkscan17
|
UTSW |
11 |
59,393,848 (GRCm39) |
start codon destroyed |
possibly damaging |
0.89 |
|
R4754:Zkscan17
|
UTSW |
11 |
59,393,851 (GRCm39) |
nonsense |
probably null |
|
|
R4959:Zkscan17
|
UTSW |
11 |
59,394,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4978:Zkscan17
|
UTSW |
11 |
59,384,053 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5399:Zkscan17
|
UTSW |
11 |
59,393,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5762:Zkscan17
|
UTSW |
11 |
59,378,397 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5788:Zkscan17
|
UTSW |
11 |
59,378,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6101:Zkscan17
|
UTSW |
11 |
59,394,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Zkscan17
|
UTSW |
11 |
59,393,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8098:Zkscan17
|
UTSW |
11 |
59,394,410 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8161:Zkscan17
|
UTSW |
11 |
59,393,770 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8210:Zkscan17
|
UTSW |
11 |
59,394,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Zkscan17
|
UTSW |
11 |
59,378,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCTCACAGGGTCAGCAAG -3'
(R):5'- AGTCTTGGCTCCAAAGGAAAG -3'
Sequencing Primer
(F):5'- TGCTCACCCACTGCCAG -3'
(R):5'- TCTTGGCTCCAAAGGAAAGTGAGG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation