Incidental Mutation 'R2417:Zfp850'
| ID |
249033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp850
|
| Ensembl Gene |
ENSMUSG00000096916 |
| Gene Name |
zinc finger protein 850 |
| Synonyms |
C130069I09Rik, Gm4636 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R2417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27684279-27713540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27688608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 533
(N533K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099111]
[ENSMUST00000180024]
[ENSMUST00000180502]
|
| AlphaFold |
J3QPC5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099111
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180024
AA Change: N533K
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137192
Gene: ENSMUSG00000096916
AA Change: N533K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
1.56e-34 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
7.18e1 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
256 |
278 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
4.4e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180502
AA Change: N533K
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141063
Gene: ENSMUSG00000096916
AA Change: N533K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
6.5e-37 |
SMART |
|
ZnF_C2H2
|
172 |
194 |
3e-1 |
SMART |
|
ZnF_C2H2
|
200 |
222 |
1.5e-5 |
SMART |
|
ZnF_C2H2
|
228 |
250 |
3.8e-5 |
SMART |
|
ZnF_C2H2
|
256 |
274 |
2.5e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130008F23Rik |
T |
A |
17: 41,191,101 (GRCm39) |
K109N |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,258,627 (GRCm39) |
V848A |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,741,805 (GRCm39) |
P756S |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,852,234 (GRCm39) |
K319E |
probably damaging |
Het |
| Bbs7 |
C |
T |
3: 36,646,546 (GRCm39) |
A425T |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,939 (GRCm39) |
R879W |
probably damaging |
Het |
| Cfap65 |
GTCTT |
GTCTTCTT |
1: 74,966,345 (GRCm39) |
|
probably benign |
Het |
| Cpsf7 |
T |
C |
19: 10,503,332 (GRCm39) |
|
probably benign |
Het |
| Ctf2 |
A |
G |
7: 127,318,759 (GRCm39) |
V80A |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,894,729 (GRCm39) |
L30P |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,502,534 (GRCm39) |
D700G |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,947,579 (GRCm39) |
P613L |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Itih3 |
G |
A |
14: 30,639,621 (GRCm39) |
T400I |
probably benign |
Het |
| Lrrc14 |
T |
A |
15: 76,597,621 (GRCm39) |
L117Q |
probably damaging |
Het |
| Ncbp1 |
C |
T |
4: 46,168,530 (GRCm39) |
S626L |
probably benign |
Het |
| Nefh |
C |
T |
11: 4,889,479 (GRCm39) |
D1047N |
unknown |
Het |
| Ptprm |
T |
G |
17: 67,251,321 (GRCm39) |
T519P |
probably damaging |
Het |
| Sorl1 |
T |
G |
9: 41,892,007 (GRCm39) |
D1881A |
probably damaging |
Het |
| Sox12 |
T |
C |
2: 152,238,717 (GRCm39) |
D301G |
possibly damaging |
Het |
| Vmn2r14 |
C |
T |
5: 109,372,329 (GRCm39) |
E54K |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,309 (GRCm39) |
N628S |
probably damaging |
Het |
| Zfp143 |
G |
A |
7: 109,668,803 (GRCm39) |
V36M |
possibly damaging |
Het |
|
| Other mutations in Zfp850 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02278:Zfp850
|
APN |
7 |
27,707,822 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0610:Zfp850
|
UTSW |
7 |
27,688,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0690:Zfp850
|
UTSW |
7 |
27,684,642 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0711:Zfp850
|
UTSW |
7 |
27,689,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1310:Zfp850
|
UTSW |
7 |
27,688,884 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1594:Zfp850
|
UTSW |
7 |
27,688,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1771:Zfp850
|
UTSW |
7 |
27,684,700 (GRCm39) |
nonsense |
probably null |
|
|
R2189:Zfp850
|
UTSW |
7 |
27,688,480 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2192:Zfp850
|
UTSW |
7 |
27,684,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4321:Zfp850
|
UTSW |
7 |
27,688,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4770:Zfp850
|
UTSW |
7 |
27,684,411 (GRCm39) |
splice site |
probably null |
|
|
R4970:Zfp850
|
UTSW |
7 |
27,689,658 (GRCm39) |
nonsense |
probably null |
|
|
R5112:Zfp850
|
UTSW |
7 |
27,689,658 (GRCm39) |
nonsense |
probably null |
|
|
R5166:Zfp850
|
UTSW |
7 |
27,689,781 (GRCm39) |
nonsense |
probably null |
|
|
R5303:Zfp850
|
UTSW |
7 |
27,707,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5315:Zfp850
|
UTSW |
7 |
27,689,743 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5496:Zfp850
|
UTSW |
7 |
27,706,771 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5547:Zfp850
|
UTSW |
7 |
27,688,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Zfp850
|
UTSW |
7 |
27,688,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5927:Zfp850
|
UTSW |
7 |
27,689,620 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6654:Zfp850
|
UTSW |
7 |
27,684,640 (GRCm39) |
nonsense |
probably null |
|
|
R6950:Zfp850
|
UTSW |
7 |
27,689,939 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6987:Zfp850
|
UTSW |
7 |
27,689,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6990:Zfp850
|
UTSW |
7 |
27,689,801 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7640:Zfp850
|
UTSW |
7 |
27,688,634 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7856:Zfp850
|
UTSW |
7 |
27,689,899 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9498:Zfp850
|
UTSW |
7 |
27,689,275 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9506:Zfp850
|
UTSW |
7 |
27,688,987 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1186:Zfp850
|
UTSW |
7 |
27,689,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Zfp850
|
UTSW |
7 |
27,688,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAAGTCTGACCCACACAG -3'
(R):5'- GCCTTCAGACTTCAATCACTACTTAG -3'
Sequencing Primer
(F):5'- CACAGCTCACACTTGAAAGGTTTTAC -3'
(R):5'- GCATCTGAGTATTCACACTAACGTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation