Incidental Mutation 'R5204:Zfp866'
| ID |
398348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp866
|
| Ensembl Gene |
ENSMUSG00000043090 |
| Gene Name |
zinc finger protein 866 |
| Synonyms |
9830167H18Rik, D330038O06Rik |
| MMRRC Submission |
042779-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R5204 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70213974-70227561 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70218690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 310
(L310P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000131784]
[ENSMUST00000137573]
[ENSMUST00000149782]
|
| AlphaFold |
Q6PGD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126915
|
| SMART Domains |
Protein: ENSMUSP00000122850
Gene: ENSMUSG00000092544
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
16 |
73 |
1.96e-17 |
SMART |
|
PDB:2I13|B
|
104 |
210 |
3e-6 |
PDB |
|
SCOP:d1fgja_
|
114 |
216 |
2e-6 |
SMART |
|
Blast:KRAB
|
189 |
209 |
3e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131784
|
| SMART Domains |
Protein: ENSMUSP00000116972
Gene: ENSMUSG00000043090
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KRAB
|
1 |
35 |
2e-19 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137573
AA Change: L310P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119781
Gene: ENSMUSG00000043090
AA Change: L310P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
67 |
4.26e-18 |
SMART |
|
ZnF_C2H2
|
162 |
184 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
190 |
212 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
9.73e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149782
|
| SMART Domains |
Protein: ENSMUSP00000123252
Gene: ENSMUSG00000092544
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
80 |
139 |
1.2e-17 |
SMART |
|
ZnF_C2H2
|
155 |
177 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
182 |
204 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
210 |
232 |
7.15e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
A |
T |
11: 101,297,752 (GRCm39) |
L532Q |
probably damaging |
Het |
| Abt1 |
G |
A |
13: 23,606,838 (GRCm39) |
R88C |
probably damaging |
Het |
| Aopep |
G |
A |
13: 63,180,904 (GRCm39) |
V289I |
probably benign |
Het |
| Arhgef7 |
T |
A |
8: 11,850,775 (GRCm39) |
L129* |
probably null |
Het |
| Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
| Bivm |
G |
C |
1: 44,177,738 (GRCm39) |
G346A |
probably damaging |
Het |
| Cav1 |
T |
C |
6: 17,339,254 (GRCm39) |
L102P |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,776,888 (GRCm39) |
V504A |
possibly damaging |
Het |
| Cd7 |
A |
T |
11: 120,928,860 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
C |
8: 107,270,871 (GRCm39) |
V508A |
probably benign |
Het |
| Chrd |
A |
T |
16: 20,554,822 (GRCm39) |
I413F |
probably benign |
Het |
| Clec4b1 |
T |
A |
6: 123,048,494 (GRCm39) |
*210R |
probably null |
Het |
| Clock |
A |
T |
5: 76,391,017 (GRCm39) |
|
probably null |
Het |
| Col4a2 |
T |
A |
8: 11,448,651 (GRCm39) |
|
probably null |
Het |
| Gpx7 |
T |
C |
4: 108,260,512 (GRCm39) |
T95A |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,961,053 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,985,128 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Klhl5 |
G |
T |
5: 65,288,781 (GRCm39) |
L14F |
possibly damaging |
Het |
| Mcm6 |
A |
G |
1: 128,261,375 (GRCm39) |
L743P |
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,469,792 (GRCm39) |
F57Y |
probably damaging |
Het |
| Or51af1 |
C |
T |
7: 103,141,747 (GRCm39) |
V113M |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh20 |
G |
T |
14: 88,706,351 (GRCm39) |
D316E |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,569,142 (GRCm39) |
V96E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,176,909 (GRCm39) |
L346M |
possibly damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,410,437 (GRCm39) |
N2648T |
possibly damaging |
Het |
| Rufy1 |
C |
T |
11: 50,297,261 (GRCm39) |
R397Q |
probably damaging |
Het |
| Sema5a |
G |
T |
15: 32,686,793 (GRCm39) |
M968I |
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,871,167 (GRCm39) |
Y149H |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,261,764 (GRCm39) |
R658S |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,090,385 (GRCm39) |
N274S |
possibly damaging |
Het |
| Tor3a |
A |
G |
1: 156,483,270 (GRCm39) |
L384P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,425,705 (GRCm39) |
L20* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,560,556 (GRCm39) |
I20955F |
probably damaging |
Het |
| Usp15 |
A |
T |
10: 122,949,545 (GRCm39) |
S908R |
probably benign |
Het |
|
| Other mutations in Zfp866 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02755:Zfp866
|
APN |
8 |
70,219,290 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0238:Zfp866
|
UTSW |
8 |
70,219,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:Zfp866
|
UTSW |
8 |
70,220,272 (GRCm39) |
splice site |
probably benign |
|
|
R1226:Zfp866
|
UTSW |
8 |
70,218,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1388:Zfp866
|
UTSW |
8 |
70,218,834 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5129:Zfp866
|
UTSW |
8 |
70,220,359 (GRCm39) |
splice site |
probably null |
|
|
R5225:Zfp866
|
UTSW |
8 |
70,218,091 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5504:Zfp866
|
UTSW |
8 |
70,218,341 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5912:Zfp866
|
UTSW |
8 |
70,218,934 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6046:Zfp866
|
UTSW |
8 |
70,218,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6939:Zfp866
|
UTSW |
8 |
70,218,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7033:Zfp866
|
UTSW |
8 |
70,218,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7111:Zfp866
|
UTSW |
8 |
70,219,221 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7351:Zfp866
|
UTSW |
8 |
70,218,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7458:Zfp866
|
UTSW |
8 |
70,218,202 (GRCm39) |
nonsense |
probably null |
|
|
R8098:Zfp866
|
UTSW |
8 |
70,218,628 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8755:Zfp866
|
UTSW |
8 |
70,219,381 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9575:Zfp866
|
UTSW |
8 |
70,219,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCTTTCCCACACTGCT -3'
(R):5'- TGGGAAAGCTCTGAGTTCTTCC -3'
Sequencing Primer
(F):5'- ACACTGCTGGCATTCATAGG -3'
(R):5'- GAAAGCCTTTAGATGTCACAGTGCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation