Incidental Mutation 'R6879:Zfp263'
| ID |
536577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp263
|
| Ensembl Gene |
ENSMUSG00000022529 |
| Gene Name |
zinc finger protein 263 |
| Synonyms |
mFPM315, NT2, 1200014J04Rik |
| MMRRC Submission |
044975-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6879 (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 3567719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 390
(H390R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023176]
[ENSMUST00000161630]
[ENSMUST00000162207]
|
| AlphaFold |
Q8CF60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023176
AA Change: H678R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023176
Gene: ENSMUSG00000022529
AA Change: H678R
| 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 damaging
Transcript: ENSMUST00000162207
AA Change: H390R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124433
Gene: ENSMUSG00000022529
AA Change: H390R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
A |
G |
10: 80,442,621 (GRCm39) |
D153G |
probably damaging |
Het |
| Agap1 |
A |
T |
1: 89,694,177 (GRCm39) |
I492F |
probably benign |
Het |
| Arhgap31 |
G |
A |
16: 38,422,676 (GRCm39) |
T1130I |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,301,882 (GRCm39) |
C923S |
possibly damaging |
Het |
| B3gnt8 |
C |
A |
7: 25,328,277 (GRCm39) |
Q236K |
probably benign |
Het |
| Bptf |
T |
G |
11: 106,933,516 (GRCm39) |
I261L |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,043,697 (GRCm39) |
F1592S |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,926,338 (GRCm39) |
T335S |
possibly damaging |
Het |
| Cops7a |
A |
T |
6: 124,935,748 (GRCm39) |
|
probably null |
Het |
| Defb10 |
A |
G |
8: 22,351,898 (GRCm39) |
I48V |
probably benign |
Het |
| Gabrg3 |
A |
C |
7: 57,031,387 (GRCm39) |
L51R |
probably damaging |
Het |
| Gins2 |
G |
A |
8: 121,312,850 (GRCm39) |
T96M |
probably damaging |
Het |
| Gm11568 |
A |
G |
11: 99,749,053 (GRCm39) |
Q86R |
unknown |
Het |
| Il33 |
T |
C |
19: 29,936,362 (GRCm39) |
V224A |
probably damaging |
Het |
| Kcnh3 |
C |
A |
15: 99,136,048 (GRCm39) |
Q682K |
probably damaging |
Het |
| Kif19a |
A |
G |
11: 114,672,159 (GRCm39) |
I249V |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,144,087 (GRCm39) |
V1447A |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,449,589 (GRCm39) |
M217K |
probably damaging |
Het |
| Mcc |
T |
C |
18: 44,945,179 (GRCm39) |
S18G |
unknown |
Het |
| Mical1 |
A |
T |
10: 41,360,515 (GRCm39) |
Q651H |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,266,893 (GRCm39) |
T340I |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,135 (GRCm39) |
I221T |
probably benign |
Het |
| Or6c202 |
T |
G |
10: 128,996,848 (GRCm39) |
K2Q |
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,899,961 (GRCm39) |
S214T |
probably benign |
Het |
| Plekha6 |
A |
T |
1: 133,187,793 (GRCm39) |
M105L |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,518,179 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,521,826 (GRCm39) |
N128S |
probably benign |
Het |
| Six6 |
A |
G |
12: 72,987,298 (GRCm39) |
K157E |
probably benign |
Het |
| Slc13a3 |
C |
A |
2: 165,272,221 (GRCm39) |
G274V |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,020,150 (GRCm39) |
V388E |
possibly damaging |
Het |
| Smad2 |
A |
G |
18: 76,395,725 (GRCm39) |
T55A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spats2 |
T |
C |
15: 99,071,293 (GRCm39) |
V39A |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,647,867 (GRCm39) |
I167T |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,550,516 (GRCm39) |
C34S |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,424,836 (GRCm39) |
E812G |
unknown |
Het |
| Tlcd2 |
T |
A |
11: 75,360,514 (GRCm39) |
W186R |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,803,922 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,239,271 (GRCm39) |
K1387R |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,115,046 (GRCm39) |
|
probably null |
Het |
| Usp21 |
T |
C |
1: 171,110,077 (GRCm39) |
D538G |
probably damaging |
Het |
| Zfp109 |
C |
T |
7: 23,928,615 (GRCm39) |
E265K |
probably benign |
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 |
|
R6140:Zfp263
|
UTSW |
16 |
3,566,081 (GRCm39) |
missense |
probably benign |
0.10 |
|
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'- AAAGTTTCCGGCAGGGCATG -3'
(R):5'- TGAGCAGGCTACCTCAAGAACC -3'
Sequencing Primer
(F):5'- TTAATCAGGCACCAGAGGATTC -3'
(R):5'- GAACCTTAAACTCTTCTGAAGACTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation