Incidental Mutation 'R2181:Zfp811'
| ID |
237207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp811
|
| Ensembl Gene |
ENSMUSG00000055202 |
| Gene Name |
zinc finger protein 811 |
| Synonyms |
|
| MMRRC Submission |
040183-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R2181 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
33014650-33028905 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 33016695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 448
(K448N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080905]
[ENSMUST00000200914]
|
| AlphaFold |
A0A0J9YU71 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080905
AA Change: K447N
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000079709
Gene: ENSMUSG00000055202
AA Change: K447N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
62 |
6.26e-16 |
SMART |
|
ZnF_C2H2
|
192 |
215 |
1.25e-1 |
SMART |
|
ZnF_C2H2
|
220 |
242 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
248 |
270 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
276 |
298 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
304 |
326 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
332 |
354 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
360 |
382 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
388 |
410 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
416 |
438 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
444 |
466 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
472 |
494 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
500 |
522 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
528 |
551 |
3.89e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104150
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200914
AA Change: K448N
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144038
Gene: ENSMUSG00000055202
AA Change: K448N
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
63 |
2.6e-18 |
SMART |
|
ZnF_C2H2
|
193 |
216 |
5.4e-4 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
7.8e-5 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
3.8e-6 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
3.3e-5 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
1.6e-6 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
3.8e-6 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
6.1e-5 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
2.7e-6 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
2.5e-5 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
4.6e-4 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
1.2e-5 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
4e-4 |
SMART |
|
ZnF_C2H2
|
529 |
552 |
1.7e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
C |
T |
16: 3,724,950 (GRCm39) |
S43N |
possibly damaging |
Het |
| Abcb5 |
T |
G |
12: 118,831,681 (GRCm39) |
I1224L |
possibly damaging |
Het |
| Adgra2 |
G |
A |
8: 27,611,701 (GRCm39) |
G1002S |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,112 (GRCm39) |
T114A |
probably damaging |
Het |
| Colec12 |
T |
A |
18: 9,846,828 (GRCm39) |
S75T |
probably damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,597,541 (GRCm39) |
C486R |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,683,765 (GRCm39) |
L581Q |
probably damaging |
Het |
| Faxc |
T |
A |
4: 21,931,591 (GRCm39) |
S10T |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,482,008 (GRCm39) |
I1893T |
possibly damaging |
Het |
| Gabrr3 |
T |
A |
16: 59,268,372 (GRCm39) |
D328E |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,249,791 (GRCm39) |
I421V |
possibly damaging |
Het |
| Gorasp1 |
A |
G |
9: 119,757,422 (GRCm39) |
S317P |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,801,736 (GRCm39) |
S113P |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,520,951 (GRCm39) |
E168G |
probably damaging |
Het |
| Kdm6b |
A |
T |
11: 69,291,952 (GRCm39) |
Y1443* |
probably null |
Het |
| Mmp28 |
A |
C |
11: 83,333,543 (GRCm39) |
V466G |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,937,360 (GRCm39) |
S750R |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Nelfa |
T |
C |
5: 34,057,853 (GRCm39) |
N314D |
probably benign |
Het |
| Numbl |
T |
A |
7: 26,968,346 (GRCm39) |
|
probably null |
Het |
| Or13c25 |
T |
A |
4: 52,911,524 (GRCm39) |
K90M |
probably damaging |
Het |
| Or1j17 |
G |
A |
2: 36,578,346 (GRCm39) |
D111N |
probably damaging |
Het |
| Or2p2 |
G |
T |
13: 21,257,394 (GRCm39) |
P26T |
probably damaging |
Het |
| Or52e5 |
T |
C |
7: 104,719,418 (GRCm39) |
V248A |
possibly damaging |
Het |
| Or5b113 |
G |
T |
19: 13,342,438 (GRCm39) |
V149F |
probably benign |
Het |
| Penk |
T |
C |
4: 4,134,041 (GRCm39) |
|
probably null |
Het |
| Pglyrp2 |
A |
G |
17: 32,637,936 (GRCm39) |
S31P |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,484,366 (GRCm39) |
S538P |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,433,815 (GRCm39) |
T252A |
possibly damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,509,098 (GRCm39) |
I394V |
probably benign |
Het |
| Sh3rf1 |
G |
T |
8: 61,816,272 (GRCm39) |
V510F |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,640,651 (GRCm39) |
H677R |
possibly damaging |
Het |
| Stam2 |
A |
T |
2: 52,593,156 (GRCm39) |
H345Q |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,284,835 (GRCm39) |
N600S |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,952,279 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
A |
T |
7: 11,403,595 (GRCm39) |
C284* |
probably null |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,743 (GRCm39) |
I745V |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,468,392 (GRCm39) |
D2850A |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,005,671 (GRCm39) |
W36R |
probably damaging |
Het |
| Zfp804b |
G |
A |
5: 6,821,674 (GRCm39) |
T463I |
probably damaging |
Het |
|
| Other mutations in Zfp811 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01394:Zfp811
|
APN |
17 |
33,016,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02227:Zfp811
|
APN |
17 |
33,017,616 (GRCm39) |
nonsense |
probably null |
|
|
IGL02529:Zfp811
|
APN |
17 |
33,016,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03190:Zfp811
|
APN |
17 |
33,017,855 (GRCm39) |
splice site |
probably benign |
|
|
R0112:Zfp811
|
UTSW |
17 |
33,016,738 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1025:Zfp811
|
UTSW |
17 |
33,017,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1522:Zfp811
|
UTSW |
17 |
33,016,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Zfp811
|
UTSW |
17 |
33,017,116 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1861:Zfp811
|
UTSW |
17 |
33,016,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4360:Zfp811
|
UTSW |
17 |
33,017,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4425:Zfp811
|
UTSW |
17 |
33,016,521 (GRCm39) |
nonsense |
probably null |
|
|
R4657:Zfp811
|
UTSW |
17 |
33,019,897 (GRCm39) |
nonsense |
probably null |
|
|
R6066:Zfp811
|
UTSW |
17 |
33,017,801 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6109:Zfp811
|
UTSW |
17 |
33,016,348 (GRCm39) |
splice site |
probably null |
|
|
R6702:Zfp811
|
UTSW |
17 |
33,016,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6714:Zfp811
|
UTSW |
17 |
33,016,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6826:Zfp811
|
UTSW |
17 |
33,016,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6983:Zfp811
|
UTSW |
17 |
33,016,406 (GRCm39) |
nonsense |
probably null |
|
|
R7276:Zfp811
|
UTSW |
17 |
33,017,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7343:Zfp811
|
UTSW |
17 |
33,016,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7432:Zfp811
|
UTSW |
17 |
33,017,733 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7523:Zfp811
|
UTSW |
17 |
33,016,726 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7894:Zfp811
|
UTSW |
17 |
33,017,821 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8737:Zfp811
|
UTSW |
17 |
33,017,197 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8962:Zfp811
|
UTSW |
17 |
33,017,622 (GRCm39) |
missense |
probably benign |
|
|
R8987:Zfp811
|
UTSW |
17 |
33,017,801 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9612:Zfp811
|
UTSW |
17 |
33,017,740 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTCATGGGGTTTCTCTCCG -3'
(R):5'- AGCAATGCGGGAAGGCTTTC -3'
Sequencing Primer
(F):5'- AGTGAATGTTTTGCCACATTGC -3'
(R):5'- GGGAAGGCTTTCACTCGTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation