Incidental Mutation 'R1250:Zkscan3'
| ID |
151731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan3
|
| Ensembl Gene |
ENSMUSG00000021327 |
| Gene Name |
zinc finger with KRAB and SCAN domains 3 |
| Synonyms |
Zfp306, 2810435N07Rik, Skz1, Zfp307 |
| MMRRC Submission |
039317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R1250 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
21571173-21586925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21572694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 313
(F313L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070785]
[ENSMUST00000116433]
[ENSMUST00000116434]
[ENSMUST00000117721]
[ENSMUST00000223831]
[ENSMUST00000224820]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070785
AA Change: F313L
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000068424
Gene: ENSMUSG00000021327
AA Change: F313L
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
|
KRAB
|
213 |
273 |
4.07e-6 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
1.2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116433
|
| SMART Domains |
Protein: ENSMUSP00000112134
Gene: ENSMUSG00000021327
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
|
KRAB
|
213 |
273 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116434
AA Change: F313L
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112135
Gene: ENSMUSG00000021327
AA Change: F313L
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
|
KRAB
|
213 |
273 |
4.07e-6 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
1.2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117721
|
| SMART Domains |
Protein: ENSMUSP00000112862
Gene: ENSMUSG00000021327
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
|
KRAB
|
213 |
256 |
3.96e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145631
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223831
AA Change: F146L
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224820
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5) |
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aptx |
T |
A |
4: 40,693,447 (GRCm39) |
E162D |
probably benign |
Het |
| Cdhr4 |
A |
T |
9: 107,874,715 (GRCm39) |
Q20L |
probably damaging |
Het |
| Dlk1 |
A |
T |
12: 109,425,744 (GRCm39) |
T206S |
probably damaging |
Het |
| Gabrr2 |
T |
C |
4: 33,063,273 (GRCm39) |
L32P |
probably benign |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,922,262 (GRCm39) |
S954T |
possibly damaging |
Het |
| Krt28 |
A |
G |
11: 99,257,648 (GRCm39) |
|
probably null |
Het |
| Lingo3 |
T |
C |
10: 80,670,605 (GRCm39) |
T442A |
probably benign |
Het |
| Map3k5 |
G |
A |
10: 19,986,521 (GRCm39) |
A912T |
possibly damaging |
Het |
| Msantd3 |
C |
A |
4: 48,552,789 (GRCm39) |
P126Q |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,853,887 (GRCm38) |
S358P |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,902,909 (GRCm39) |
|
probably null |
Het |
| Qtrt1 |
C |
T |
9: 21,330,844 (GRCm39) |
T324M |
probably benign |
Het |
| Rag2 |
A |
G |
2: 101,460,784 (GRCm39) |
S365G |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,719,491 (GRCm39) |
T402K |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,054,531 (GRCm39) |
M1T |
probably null |
Het |
| Ttn |
A |
G |
2: 76,720,904 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,643 (GRCm39) |
V74A |
probably benign |
Het |
|
| Other mutations in Zkscan3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01574:Zkscan3
|
APN |
13 |
21,578,261 (GRCm39) |
splice site |
probably benign |
|
|
IGL02406:Zkscan3
|
APN |
13 |
21,572,348 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02725:Zkscan3
|
APN |
13 |
21,579,063 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02741:Zkscan3
|
APN |
13 |
21,578,164 (GRCm39) |
missense |
probably benign |
0.05 |
|
3-1:Zkscan3
|
UTSW |
13 |
21,572,051 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0040:Zkscan3
|
UTSW |
13 |
21,579,090 (GRCm39) |
splice site |
probably null |
|
|
R0040:Zkscan3
|
UTSW |
13 |
21,579,090 (GRCm39) |
splice site |
probably null |
|
|
R0133:Zkscan3
|
UTSW |
13 |
21,578,944 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0660:Zkscan3
|
UTSW |
13 |
21,572,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Zkscan3
|
UTSW |
13 |
21,572,766 (GRCm39) |
missense |
probably benign |
|
|
R1671:Zkscan3
|
UTSW |
13 |
21,580,305 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1926:Zkscan3
|
UTSW |
13 |
21,580,616 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2899:Zkscan3
|
UTSW |
13 |
21,578,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Zkscan3
|
UTSW |
13 |
21,578,119 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4120:Zkscan3
|
UTSW |
13 |
21,578,119 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4606:Zkscan3
|
UTSW |
13 |
21,577,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5459:Zkscan3
|
UTSW |
13 |
21,578,982 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5549:Zkscan3
|
UTSW |
13 |
21,578,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5631:Zkscan3
|
UTSW |
13 |
21,578,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Zkscan3
|
UTSW |
13 |
21,580,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6495:Zkscan3
|
UTSW |
13 |
21,572,075 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7286:Zkscan3
|
UTSW |
13 |
21,578,983 (GRCm39) |
missense |
probably benign |
|
|
R7363:Zkscan3
|
UTSW |
13 |
21,571,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7443:Zkscan3
|
UTSW |
13 |
21,572,608 (GRCm39) |
nonsense |
probably null |
|
|
R7787:Zkscan3
|
UTSW |
13 |
21,572,034 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9008:Zkscan3
|
UTSW |
13 |
21,572,383 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9048:Zkscan3
|
UTSW |
13 |
21,580,686 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R9260:Zkscan3
|
UTSW |
13 |
21,578,210 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9281:Zkscan3
|
UTSW |
13 |
21,579,045 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9300:Zkscan3
|
UTSW |
13 |
21,577,667 (GRCm39) |
missense |
unknown |
|
|
Z1088:Zkscan3
|
UTSW |
13 |
21,572,735 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTCAGAAGATGTGAGCTACGCC -3'
(R):5'- TGCAGACTAAGGTTAGGGACTTGCC -3'
Sequencing Primer
(F):5'- gccttaccacattcttcacac -3'
(R):5'- ACACTGTCCCGATTCCTACA -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation