Incidental Mutation 'R6140:Zfp263'
| ID |
488552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp263
|
| Ensembl Gene |
ENSMUSG00000022529 |
| Gene Name |
zinc finger protein 263 |
| Synonyms |
mFPM315, NT2, 1200014J04Rik |
| MMRRC Submission |
044287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6140 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3561957-3568654 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3566081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 281
(S281G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023176]
[ENSMUST00000161630]
[ENSMUST00000162207]
|
| AlphaFold |
Q8CF60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023176
AA Change: S281G
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000023176
Gene: ENSMUSG00000022529
AA Change: S281G
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
39 |
151 |
5.15e-71 |
SMART |
|
KRAB
|
219 |
279 |
1.86e-9 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
434 |
456 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
462 |
484 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
490 |
512 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
518 |
540 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
572 |
594 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
600 |
622 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
628 |
650 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
656 |
678 |
1.72e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159060
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159425
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160923
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161630
|
| SMART Domains |
Protein: ENSMUSP00000123725
Gene: ENSMUSG00000022529
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
39 |
143 |
1.61e-63 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162207
|
| SMART Domains |
Protein: ENSMUSP00000124433
Gene: ENSMUSG00000022529
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
90 |
112 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
146 |
168 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
174 |
196 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
284 |
306 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
312 |
334 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
340 |
362 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
368 |
390 |
1.72e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.9%
- 20x: 91.8%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
C |
12: 17,055,923 (GRCm39) |
|
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,605,433 (GRCm39) |
R593W |
probably damaging |
Het |
| Agfg2 |
T |
C |
5: 137,665,347 (GRCm39) |
Q136R |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,241,036 (GRCm39) |
|
probably null |
Het |
| Baz2b |
T |
C |
2: 59,742,871 (GRCm39) |
D1643G |
probably damaging |
Het |
| Ccdc171 |
C |
T |
4: 83,614,554 (GRCm39) |
Q1060* |
probably null |
Het |
| Cela1 |
C |
T |
15: 100,579,037 (GRCm39) |
R207H |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,660,133 (GRCm39) |
V664A |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,336,380 (GRCm39) |
R563G |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,804,508 (GRCm39) |
H1773L |
probably benign |
Het |
| Ddrgk1 |
A |
G |
2: 130,500,534 (GRCm39) |
V204A |
probably benign |
Het |
| Dhrs7c |
A |
T |
11: 67,705,900 (GRCm39) |
T218S |
probably damaging |
Het |
| Dlgap4 |
A |
T |
2: 156,604,649 (GRCm39) |
|
probably null |
Het |
| Hgd |
A |
T |
16: 37,410,075 (GRCm39) |
Y37F |
probably benign |
Het |
| Hmcn1 |
A |
C |
1: 150,608,597 (GRCm39) |
N1528K |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,051,151 (GRCm39) |
F843S |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,431,804 (GRCm39) |
F800S |
possibly damaging |
Het |
| Igsf21 |
T |
A |
4: 139,834,684 (GRCm39) |
T63S |
probably benign |
Het |
| Il18rap |
T |
G |
1: 40,564,212 (GRCm39) |
M110R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 188,942,104 (GRCm39) |
H384Q |
probably damaging |
Het |
| Lima1 |
C |
T |
15: 99,678,939 (GRCm39) |
V341M |
probably damaging |
Het |
| Lins1 |
T |
C |
7: 66,361,672 (GRCm39) |
L441P |
probably damaging |
Het |
| Lss |
T |
C |
10: 76,386,522 (GRCm39) |
Y642H |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,237,615 (GRCm39) |
T1098A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,364,146 (GRCm39) |
|
probably null |
Het |
| Nrdc |
G |
T |
4: 108,906,308 (GRCm39) |
A730S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,941,808 (GRCm39) |
T72I |
possibly damaging |
Het |
| Or6c213 |
T |
G |
10: 129,574,523 (GRCm39) |
K88Q |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,543 (GRCm39) |
S275P |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
| Oxt |
A |
G |
2: 130,418,191 (GRCm39) |
Y21C |
probably damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,257,263 (GRCm39) |
|
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,298,492 (GRCm39) |
V907A |
probably damaging |
Het |
| Rnls |
A |
T |
19: 33,115,600 (GRCm39) |
D157E |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,291,697 (GRCm39) |
V194L |
probably benign |
Het |
| Slc7a7 |
G |
A |
14: 54,616,515 (GRCm39) |
T189I |
probably damaging |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Ssh1 |
A |
G |
5: 114,080,692 (GRCm39) |
Y891H |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,546,702 (GRCm39) |
D258G |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,400,635 (GRCm39) |
M129K |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,803,673 (GRCm39) |
I1088V |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,031 (GRCm39) |
I92T |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,657 (GRCm39) |
S309F |
probably damaging |
Het |
| Wsb1 |
A |
T |
11: 79,132,444 (GRCm39) |
H325Q |
probably damaging |
Het |
| Zfp507 |
A |
G |
7: 35,493,613 (GRCm39) |
S477P |
probably damaging |
Het |
|
| Other mutations in Zfp263 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Zfp263
|
APN |
16 |
3,563,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01112:Zfp263
|
APN |
16 |
3,566,776 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02049:Zfp263
|
APN |
16 |
3,562,482 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02534:Zfp263
|
APN |
16 |
3,564,279 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02674:Zfp263
|
APN |
16 |
3,564,629 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03065:Zfp263
|
APN |
16 |
3,564,344 (GRCm39) |
missense |
probably benign |
|
|
IGL03105:Zfp263
|
APN |
16 |
3,566,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03153:Zfp263
|
APN |
16 |
3,564,744 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02796:Zfp263
|
UTSW |
16 |
3,564,740 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1201:Zfp263
|
UTSW |
16 |
3,567,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1414:Zfp263
|
UTSW |
16 |
3,567,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Zfp263
|
UTSW |
16 |
3,564,323 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3085:Zfp263
|
UTSW |
16 |
3,567,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4368:Zfp263
|
UTSW |
16 |
3,562,770 (GRCm39) |
unclassified |
probably benign |
|
|
R4989:Zfp263
|
UTSW |
16 |
3,566,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Zfp263
|
UTSW |
16 |
3,564,704 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5073:Zfp263
|
UTSW |
16 |
3,564,704 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5074:Zfp263
|
UTSW |
16 |
3,564,704 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5122:Zfp263
|
UTSW |
16 |
3,567,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5705:Zfp263
|
UTSW |
16 |
3,564,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6879:Zfp263
|
UTSW |
16 |
3,567,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7133:Zfp263
|
UTSW |
16 |
3,567,255 (GRCm39) |
nonsense |
probably null |
|
|
R7216:Zfp263
|
UTSW |
16 |
3,562,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8517:Zfp263
|
UTSW |
16 |
3,564,760 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8822:Zfp263
|
UTSW |
16 |
3,562,004 (GRCm39) |
unclassified |
probably benign |
|
|
R9130:Zfp263
|
UTSW |
16 |
3,567,701 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9172:Zfp263
|
UTSW |
16 |
3,567,323 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9512:Zfp263
|
UTSW |
16 |
3,564,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Zfp263
|
UTSW |
16 |
3,567,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGACTCAGGGAGAATTTGTTTC -3'
(R):5'- GCTCAAGATTAAGCACCTCCTC -3'
Sequencing Primer
(F):5'- TCTCTCTGATCCTGGCAGG -3'
(R):5'- CCTTGCTGGTAGAACATGGTGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation