Incidental Mutation 'R2899:Zkscan3'
| ID |
261421 |
| 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 |
040487-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R2899 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
21571173-21586925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21578143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 219
(L219Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070785]
[ENSMUST00000116433]
[ENSMUST00000116434]
[ENSMUST00000117721]
[ENSMUST00000223831]
[ENSMUST00000224820]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070785
AA Change: L248Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068424
Gene: ENSMUSG00000021327
AA Change: L248Q
| 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 damaging
Transcript: ENSMUST00000116433
AA Change: L248Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112134
Gene: ENSMUSG00000021327
AA Change: L248Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
47 |
159 |
4.18e-71 |
SMART |
|
KRAB
|
213 |
273 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116434
AA Change: L248Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112135
Gene: ENSMUSG00000021327
AA Change: L248Q
| 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 damaging
Transcript: ENSMUST00000117721
AA Change: L248Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112862
Gene: ENSMUSG00000021327
AA Change: L248Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000184464
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223831
AA Change: L81Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224820
AA Change: L219Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8758 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
All alleles(5) : Gene trapped(5) |
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,443 (GRCm39) |
K211E |
probably benign |
Het |
| Amigo3 |
T |
C |
9: 107,931,353 (GRCm39) |
S259P |
probably benign |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cd200r4 |
T |
C |
16: 44,653,728 (GRCm39) |
I175T |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,962,854 (GRCm39) |
D425G |
probably benign |
Het |
| Clmp |
T |
C |
9: 40,693,688 (GRCm39) |
S302P |
probably damaging |
Het |
| Dusp6 |
T |
C |
10: 99,099,707 (GRCm39) |
S52P |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,381,667 (GRCm39) |
I395F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,014,469 (GRCm39) |
E580G |
possibly damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,881,480 (GRCm39) |
Y271N |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,650,323 (GRCm39) |
W131* |
probably null |
Het |
| Gdf7 |
C |
T |
12: 8,348,470 (GRCm39) |
A276T |
unknown |
Het |
| Limk1 |
A |
T |
5: 134,717,154 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Neb |
A |
G |
2: 52,075,335 (GRCm39) |
I210T |
probably benign |
Het |
| Nf1 |
T |
G |
11: 79,303,584 (GRCm39) |
N420K |
possibly damaging |
Het |
| Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
| Pask |
G |
T |
1: 93,262,269 (GRCm39) |
T197K |
probably damaging |
Het |
| Potefam1 |
C |
A |
2: 111,051,015 (GRCm39) |
|
probably benign |
Het |
| Pou4f3 |
T |
C |
18: 42,528,588 (GRCm39) |
L177P |
probably benign |
Het |
| Rassf1 |
G |
A |
9: 107,431,393 (GRCm39) |
G107R |
probably null |
Het |
| Rdx |
T |
C |
9: 51,980,211 (GRCm39) |
|
probably benign |
Het |
| Saraf |
T |
C |
8: 34,628,385 (GRCm39) |
L77P |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,178,959 (GRCm39) |
E483G |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,002,124 (GRCm39) |
N69S |
probably damaging |
Het |
| Usp36 |
G |
A |
11: 118,167,582 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zc3h6 |
T |
C |
2: 128,844,152 (GRCm39) |
V232A |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 109,671,336 (GRCm39) |
S99R |
probably damaging |
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 |
|
|
R1250:Zkscan3
|
UTSW |
13 |
21,572,694 (GRCm39) |
missense |
probably benign |
0.32 |
|
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 |
|
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'- TTCGCTGTCACTGCAACAC -3'
(R):5'- AGCTTGCAACCCAGATACTTAC -3'
Sequencing Primer
(F):5'- AAGACCTAGCTCATTGTGGC -3'
(R):5'- TGCAACCCAGATACTTACCTATTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation