Incidental Mutation 'R6733:Zkscan6'
| ID |
530152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan6
|
| Ensembl Gene |
ENSMUSG00000018347 |
| Gene Name |
zinc finger with KRAB and SCAN domains 6 |
| Synonyms |
D11Ertd714e, Zfp535, 1700128E15Rik, KOX11 |
| MMRRC Submission |
044851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R6733 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
65698001-65720065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65719461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 494
(T494A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018491]
[ENSMUST00000071465]
[ENSMUST00000080665]
|
| AlphaFold |
Q810A1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018491
AA Change: T494A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018491
Gene: ENSMUSG00000018347
AA Change: T494A
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
37 |
149 |
2.75e-57 |
SMART |
|
KRAB
|
223 |
280 |
4.18e-3 |
SMART |
|
ZnF_C2H2
|
415 |
437 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
499 |
521 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
527 |
549 |
1.72e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071465
AA Change: T494A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071406
Gene: ENSMUSG00000018347
AA Change: T494A
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
37 |
149 |
2.75e-57 |
SMART |
|
KRAB
|
223 |
280 |
4.18e-3 |
SMART |
|
ZnF_C2H2
|
415 |
437 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
499 |
521 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
527 |
549 |
1.72e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080665
|
| SMART Domains |
Protein: ENSMUSP00000079494
Gene: ENSMUSG00000056752
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DHC_N1
|
209 |
787 |
3.6e-164 |
PFAM |
|
coiled coil region
|
788 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
1228 |
1240 |
N/A |
INTRINSIC |
|
Pfam:DHC_N2
|
1290 |
1699 |
1.4e-134 |
PFAM |
|
AAA
|
1863 |
1999 |
4.9e-1 |
SMART |
|
AAA
|
2141 |
2341 |
1.99e0 |
SMART |
|
AAA
|
2468 |
2614 |
6.75e-1 |
SMART |
|
Pfam:AAA_8
|
2786 |
3053 |
1.1e-165 |
PFAM |
|
Pfam:MT
|
3065 |
3408 |
7.2e-208 |
PFAM |
|
Pfam:AAA_9
|
3430 |
3652 |
3.2e-87 |
PFAM |
|
Pfam:Dynein_heavy
|
3786 |
4482 |
1e-241 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152386
|
| SMART Domains |
Protein: ENSMUSP00000116499
Gene: ENSMUSG00000056752
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_7
|
1 |
258 |
3e-155 |
PFAM |
|
Pfam:AAA_8
|
336 |
603 |
3.9e-166 |
PFAM |
|
Pfam:MT
|
615 |
958 |
2.3e-208 |
PFAM |
|
Pfam:AAA_9
|
980 |
1202 |
1.1e-87 |
PFAM |
|
Pfam:Dynein_heavy
|
1336 |
1514 |
2.4e-52 |
PFAM |
|
Pfam:Dynein_heavy
|
1508 |
1956 |
8.6e-155 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
| Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
| Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
| Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
| H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
| Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
| Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
| Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
| Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
| Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
| Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
| Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
| Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
| Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Zkscan6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Zkscan6
|
APN |
11 |
65,719,287 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL00941:Zkscan6
|
APN |
11 |
65,705,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01784:Zkscan6
|
APN |
11 |
65,705,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:Zkscan6
|
APN |
11 |
65,719,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03001:Zkscan6
|
APN |
11 |
65,705,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Zkscan6
|
UTSW |
11 |
65,712,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0105:Zkscan6
|
UTSW |
11 |
65,712,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0112:Zkscan6
|
UTSW |
11 |
65,705,689 (GRCm39) |
splice site |
probably benign |
|
|
R0542:Zkscan6
|
UTSW |
11 |
65,719,525 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1636:Zkscan6
|
UTSW |
11 |
65,705,256 (GRCm39) |
start gained |
probably benign |
|
|
R2235:Zkscan6
|
UTSW |
11 |
65,719,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3926:Zkscan6
|
UTSW |
11 |
65,719,051 (GRCm39) |
missense |
probably benign |
|
|
R6083:Zkscan6
|
UTSW |
11 |
65,706,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Zkscan6
|
UTSW |
11 |
65,718,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6558:Zkscan6
|
UTSW |
11 |
65,719,051 (GRCm39) |
missense |
probably benign |
|
|
R7301:Zkscan6
|
UTSW |
11 |
65,719,051 (GRCm39) |
missense |
probably benign |
|
|
R7432:Zkscan6
|
UTSW |
11 |
65,705,189 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7466:Zkscan6
|
UTSW |
11 |
65,719,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9511:Zkscan6
|
UTSW |
11 |
65,712,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9513:Zkscan6
|
UTSW |
11 |
65,712,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGAGTGTGGGAAAACCTTC -3'
(R):5'- CCAAGTGTGATCTCTGATGCTTG -3'
Sequencing Primer
(F):5'- CACAGCTTGTTTTTCACCAAAGGAC -3'
(R):5'- ATCTCTGATGCTTGTCAAGGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation