Incidental Mutation 'R1310:Zfp850'
| ID |
157903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp850
|
| Ensembl Gene |
ENSMUSG00000096916 |
| Gene Name |
zinc finger protein 850 |
| Synonyms |
C130069I09Rik, Gm4636 |
| MMRRC Submission |
039376-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R1310 (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 C
at 27688884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 441
(S441R)
|
| 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 |
probably benign
Transcript: ENSMUST00000180024
AA Change: S441R
PolyPhen 2
Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137192
Gene: ENSMUSG00000096916
AA Change: S441R
| 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 |
probably benign
Transcript: ENSMUST00000180502
AA Change: S441R
PolyPhen 2
Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141063
Gene: ENSMUSG00000096916
AA Change: S441R
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,754,936 (GRCm39) |
H678R |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,714,496 (GRCm39) |
V929A |
probably benign |
Het |
| Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
| C87436 |
A |
G |
6: 86,422,432 (GRCm39) |
E2G |
possibly damaging |
Het |
| Def6 |
G |
A |
17: 28,436,593 (GRCm39) |
V86I |
probably benign |
Het |
| Drd3 |
A |
G |
16: 43,641,892 (GRCm39) |
K403E |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,536,368 (GRCm39) |
R534C |
probably damaging |
Het |
| H2-T24 |
G |
T |
17: 36,325,888 (GRCm39) |
Y234* |
probably null |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
A |
G |
19: 34,571,096 (GRCm39) |
S454P |
possibly damaging |
Het |
| Or4x11 |
T |
A |
2: 89,868,047 (GRCm39) |
D261E |
probably benign |
Het |
| Or51a43 |
C |
T |
7: 103,717,805 (GRCm39) |
M144I |
probably benign |
Het |
| Pde4c |
A |
G |
8: 71,202,572 (GRCm39) |
D592G |
possibly damaging |
Het |
| Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
| Sik3 |
A |
G |
9: 46,130,724 (GRCm39) |
E1170G |
possibly damaging |
Het |
| Soat1 |
A |
G |
1: 156,268,902 (GRCm39) |
L183P |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
| Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
| Tmem38a |
T |
A |
8: 73,333,814 (GRCm39) |
F98I |
probably damaging |
Het |
| Yod1 |
C |
T |
1: 130,646,567 (GRCm39) |
A148V |
probably benign |
Het |
| Zfp976 |
G |
A |
7: 42,262,610 (GRCm39) |
P409L |
probably 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 |
|
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 |
|
R2417:Zfp850
|
UTSW |
7 |
27,688,608 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
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'- CTGAAGTCTGAAGTCTGACCCACAC -3'
(R):5'- ACTCACACTGATGAGAAGCCTTTCAAG -3'
Sequencing Primer
(F):5'- tgatcttcgacgaaagaatttcc -3'
(R):5'- GGTCAGTCTTCAGACGTAAGTACC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation