Incidental Mutation 'R1201:Zfp263'
| ID |
101425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp263
|
| Ensembl Gene |
ENSMUSG00000022529 |
| Gene Name |
zinc finger protein 263 |
| Synonyms |
mFPM315, NT2, 1200014J04Rik |
| MMRRC Submission |
039271-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R1201 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
3561957-3568654 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3567294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 536
(H536Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023176]
[ENSMUST00000161630]
[ENSMUST00000162207]
|
| AlphaFold |
Q8CF60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023176
AA Change: H536Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023176
Gene: ENSMUSG00000022529
AA Change: H536Q
| 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: H248Q
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124433
Gene: ENSMUSG00000022529
AA Change: H248Q
| 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: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,546,626 (GRCm39) |
T103A |
possibly damaging |
Het |
| Acly |
A |
G |
11: 100,384,761 (GRCm39) |
I674T |
probably damaging |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Actc1 |
A |
G |
2: 113,879,994 (GRCm39) |
|
probably null |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Arhgap40 |
A |
C |
2: 158,376,689 (GRCm39) |
D275A |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,002,524 (GRCm39) |
S1490G |
probably benign |
Het |
| Car11 |
A |
G |
7: 45,352,904 (GRCm39) |
D221G |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,891,095 (GRCm39) |
H596Q |
possibly damaging |
Het |
| Ccm2 |
T |
C |
11: 6,543,682 (GRCm39) |
V231A |
probably benign |
Het |
| Crh |
A |
G |
3: 19,748,090 (GRCm39) |
I184T |
probably damaging |
Het |
| Csgalnact2 |
A |
G |
6: 118,091,393 (GRCm39) |
S424P |
probably damaging |
Het |
| Dbf4 |
A |
C |
5: 8,447,498 (GRCm39) |
L571V |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,153,542 (GRCm39) |
K66E |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,296,487 (GRCm39) |
V3672A |
probably benign |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Krt36 |
T |
C |
11: 99,994,883 (GRCm39) |
N230D |
probably benign |
Het |
| Nlrp4b |
G |
T |
7: 10,449,363 (GRCm39) |
R522L |
possibly damaging |
Het |
| Ntn1 |
T |
C |
11: 68,104,052 (GRCm39) |
D532G |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,848,059 (GRCm39) |
V215D |
probably damaging |
Het |
| Or1x2 |
T |
A |
11: 50,917,937 (GRCm39) |
M36K |
probably damaging |
Het |
| Or4k15 |
T |
A |
14: 50,364,813 (GRCm39) |
W260R |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,226 (GRCm39) |
I282T |
probably damaging |
Het |
| Or6b2b |
T |
G |
1: 92,418,875 (GRCm39) |
I201L |
probably benign |
Het |
| Or7a39 |
A |
T |
10: 78,715,311 (GRCm39) |
M102L |
probably benign |
Het |
| Otulinl |
G |
A |
15: 27,658,259 (GRCm39) |
Q84* |
probably null |
Het |
| Pidd1 |
A |
G |
7: 141,020,187 (GRCm39) |
F580L |
probably benign |
Het |
| Plekhg4 |
A |
G |
8: 106,108,305 (GRCm39) |
D1116G |
probably damaging |
Het |
| Prss33 |
G |
T |
17: 24,054,084 (GRCm39) |
S74* |
probably null |
Het |
| Rab34 |
T |
A |
11: 78,081,222 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
C |
15: 39,479,720 (GRCm39) |
T1251P |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,413,342 (GRCm39) |
S1152P |
unknown |
Het |
| Slc6a17 |
T |
A |
3: 107,400,388 (GRCm39) |
Q206L |
possibly damaging |
Het |
| Tmem59l |
C |
T |
8: 70,937,037 (GRCm39) |
W310* |
probably null |
Het |
| Tnrc6c |
T |
G |
11: 117,612,500 (GRCm39) |
N379K |
probably damaging |
Het |
| Vmn1r76 |
A |
C |
7: 11,664,252 (GRCm39) |
F286V |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,225,413 (GRCm39) |
D463G |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Zfp607a |
T |
A |
7: 27,578,736 (GRCm39) |
F602Y |
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 |
|
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 |
|
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'- GCCCAAGAAACTCCATTTGTGTGCC -3'
(R):5'- ATGCCCTGCCGGAAACTTTTCCCA -3'
Sequencing Primer
(F):5'- tcaaaatacccacctcaccc -3'
(R):5'- CGGAAACTTTTCCCACAAGTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation