Incidental Mutation 'R2189:Zfp850'
ID |
237967 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp850
|
Ensembl Gene |
ENSMUSG00000096916 |
Gene Name |
zinc finger protein 850 |
Synonyms |
C130069I09Rik, Gm4636 |
MMRRC Submission |
040191-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R2189 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
27684279-27713540 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 27688480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 576
(R576L)
|
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: R576L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000137192 Gene: ENSMUSG00000096916 AA Change: R576L
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: R576L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000141063 Gene: ENSMUSG00000096916 AA Change: R576L
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: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
G |
C |
7: 78,747,839 (GRCm39) |
G870A |
probably damaging |
Het |
Adamtsl2 |
T |
C |
2: 26,971,750 (GRCm39) |
W12R |
probably benign |
Het |
Bsph1 |
G |
A |
7: 13,204,254 (GRCm39) |
|
probably null |
Het |
Celsr1 |
G |
T |
15: 85,863,431 (GRCm39) |
H1200Q |
possibly damaging |
Het |
Clptm1 |
A |
T |
7: 19,371,070 (GRCm39) |
Y355* |
probably null |
Het |
Cry2 |
T |
C |
2: 92,242,037 (GRCm39) |
E572G |
possibly damaging |
Het |
Dlk1 |
G |
A |
12: 109,420,975 (GRCm39) |
|
probably null |
Het |
Eral1 |
A |
G |
11: 77,966,657 (GRCm39) |
V201A |
probably benign |
Het |
Esrp1 |
A |
T |
4: 11,357,603 (GRCm39) |
M503K |
probably benign |
Het |
Fam83e |
G |
T |
7: 45,371,607 (GRCm39) |
M1I |
probably null |
Het |
Flt4 |
G |
A |
11: 49,526,525 (GRCm39) |
A835T |
probably benign |
Het |
H2bc15 |
A |
G |
13: 21,938,447 (GRCm39) |
D52G |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,903,244 (GRCm39) |
S562G |
probably null |
Het |
Icosl |
A |
G |
10: 77,909,759 (GRCm39) |
T235A |
possibly damaging |
Het |
Itga6 |
A |
G |
2: 71,655,961 (GRCm39) |
D295G |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lipa |
A |
T |
19: 34,502,199 (GRCm39) |
L15Q |
probably benign |
Het |
Mcc |
T |
C |
18: 44,667,297 (GRCm39) |
E218G |
possibly damaging |
Het |
Mdga2 |
A |
G |
12: 66,519,970 (GRCm39) |
|
probably null |
Het |
Mmadhc |
A |
C |
2: 50,178,958 (GRCm39) |
C153W |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
Nlrp1b |
T |
A |
11: 71,060,621 (GRCm39) |
Q729L |
probably damaging |
Het |
Ofcc1 |
T |
A |
13: 40,333,924 (GRCm39) |
Q389L |
probably benign |
Het |
Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
Or5m5 |
A |
G |
2: 85,814,412 (GRCm39) |
D76G |
probably damaging |
Het |
Or5p4 |
A |
T |
7: 107,680,243 (GRCm39) |
M81L |
possibly damaging |
Het |
Or5p50 |
T |
C |
7: 107,421,822 (GRCm39) |
I285V |
probably benign |
Het |
Pml |
T |
C |
9: 58,142,157 (GRCm39) |
N225S |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
Scap |
T |
A |
9: 110,206,761 (GRCm39) |
I402N |
probably damaging |
Het |
Sgsm2 |
A |
G |
11: 74,743,908 (GRCm39) |
L886P |
probably damaging |
Het |
Sugct |
T |
C |
13: 17,836,851 (GRCm39) |
I104V |
probably benign |
Het |
Tmem200c |
A |
G |
17: 69,147,681 (GRCm39) |
Q88R |
probably damaging |
Het |
Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
Tnk2 |
C |
T |
16: 32,490,239 (GRCm39) |
L381F |
probably damaging |
Het |
Ubr2 |
C |
T |
17: 47,254,290 (GRCm39) |
V1454I |
probably benign |
Het |
V1ra8 |
A |
C |
6: 90,179,944 (GRCm39) |
D49A |
probably damaging |
Het |
Vmn2r5 |
A |
C |
3: 64,417,014 (GRCm39) |
M48R |
probably benign |
Het |
Yars1 |
A |
G |
4: 129,099,982 (GRCm39) |
I227V |
probably damaging |
Het |
Zfpm2 |
T |
A |
15: 40,964,579 (GRCm39) |
F223I |
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 |
|
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'- GAAATCTCTGGTGGCGAATAAGATG -3'
(R):5'- AGCCTTCAGACTTCAGTCCC -3'
Sequencing Primer
(F):5'- CCAGTGTGAATACTCAGGTGCTC -3'
(R):5'- GCAAGGAATGTGGGAAATTCTTTC -3'
|
Posted On |
2014-10-02 |