Incidental Mutation 'R6558:Zkscan6'
| ID |
522268 |
| 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 |
044682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R6558 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
65698001-65720065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65719051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 357
(H357L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018491]
[ENSMUST00000071465]
[ENSMUST00000080665]
|
| AlphaFold |
Q810A1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018491
AA Change: H357L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018491
Gene: ENSMUSG00000018347
AA Change: H357L
| 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: ENSMUST00000071465
AA Change: H357L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071406
Gene: ENSMUSG00000018347
AA Change: H357L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,839,572 (GRCm39) |
V161A |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,960,798 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
C |
6: 18,222,527 (GRCm39) |
I261T |
probably damaging |
Het |
| Chml |
A |
T |
1: 175,514,748 (GRCm39) |
M391K |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,276,971 (GRCm39) |
L659P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Cxcl2 |
T |
C |
5: 91,052,224 (GRCm39) |
L71P |
probably damaging |
Het |
| Cxcl5 |
A |
G |
5: 90,907,677 (GRCm39) |
E83G |
probably damaging |
Het |
| Dpt |
A |
G |
1: 164,624,380 (GRCm39) |
Y27C |
unknown |
Het |
| Drc3 |
A |
T |
11: 60,255,718 (GRCm39) |
I102F |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,876,302 (GRCm39) |
D345G |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,006,347 (GRCm39) |
T516K |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,290,288 (GRCm39) |
N7D |
probably benign |
Het |
| Hoxc11 |
T |
C |
15: 102,863,301 (GRCm39) |
L114P |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 36,034,640 (GRCm39) |
N5S |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,589 (GRCm39) |
T248I |
probably damaging |
Het |
| Lrrc71 |
G |
A |
3: 87,649,950 (GRCm39) |
T326M |
probably benign |
Het |
| Map7d1 |
G |
A |
4: 126,126,702 (GRCm39) |
A798V |
unknown |
Het |
| Mfsd13a |
T |
A |
19: 46,354,917 (GRCm39) |
N31K |
probably damaging |
Het |
| Myadm |
T |
A |
7: 3,345,577 (GRCm39) |
I113N |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,741,678 (GRCm39) |
E1509G |
probably damaging |
Het |
| Nalcn |
C |
G |
14: 123,723,919 (GRCm39) |
R382P |
probably benign |
Het |
| Ogfr |
C |
T |
2: 180,237,197 (GRCm39) |
P594L |
possibly damaging |
Het |
| Or2r11 |
T |
A |
6: 42,437,711 (GRCm39) |
M81L |
probably benign |
Het |
| Or5p80 |
T |
A |
7: 108,229,395 (GRCm39) |
H65Q |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,839,052 (GRCm39) |
M877I |
probably benign |
Het |
| Sec23a |
A |
T |
12: 59,051,338 (GRCm39) |
S102T |
probably benign |
Het |
| Stoml1 |
T |
A |
9: 58,163,951 (GRCm39) |
V90E |
probably damaging |
Het |
| Stra8 |
G |
A |
6: 34,909,975 (GRCm39) |
W111* |
probably null |
Het |
| Timeless |
T |
A |
10: 128,085,432 (GRCm39) |
V850D |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,495,490 (GRCm39) |
D453V |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,200,708 (GRCm39) |
T1138P |
possibly damaging |
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 |
|
R6733:Zkscan6
|
UTSW |
11 |
65,719,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GGATAACAGGGCATAGCAGTTACTG -3'
(R):5'- TCCCACACTCTCTGCAAGTG -3'
Sequencing Primer
(F):5'- CTTTTTCCTTTCAGAAGACAGACAAG -3'
(R):5'- CAAGTGGGCAGTTTCTGGGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation