Incidental Mutation 'R5315:Zfp850'
ID |
405796 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp850
|
Ensembl Gene |
ENSMUSG00000096916 |
Gene Name |
zinc finger protein 850 |
Synonyms |
C130069I09Rik, Gm4636 |
MMRRC Submission |
042898-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R5315 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
27684279-27713540 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 27689743 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 155
(K155R)
|
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: K155R
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000137192 Gene: ENSMUSG00000096916 AA Change: K155R
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: K155R
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000141063 Gene: ENSMUSG00000096916 AA Change: K155R
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: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
T |
C |
11: 105,885,747 (GRCm39) |
V51A |
probably benign |
Het |
Ass1 |
A |
T |
2: 31,382,341 (GRCm39) |
I171F |
probably benign |
Het |
AU041133 |
T |
G |
10: 81,987,506 (GRCm39) |
Y386* |
probably null |
Het |
Bex6 |
A |
G |
16: 32,005,311 (GRCm39) |
N40D |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,877,775 (GRCm39) |
Y1044C |
probably damaging |
Het |
Cflar |
C |
G |
1: 58,792,961 (GRCm39) |
D442E |
probably benign |
Het |
Dag1 |
A |
G |
9: 108,086,316 (GRCm39) |
V275A |
probably damaging |
Het |
Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
Epha4 |
C |
T |
1: 77,365,109 (GRCm39) |
|
probably null |
Het |
Eri2 |
T |
C |
7: 119,385,241 (GRCm39) |
D420G |
probably benign |
Het |
Gm42669 |
A |
T |
5: 107,656,103 (GRCm39) |
I1301F |
probably damaging |
Het |
Golga2 |
A |
G |
2: 32,193,773 (GRCm39) |
E463G |
probably damaging |
Het |
Grsf1 |
G |
A |
5: 88,821,634 (GRCm39) |
|
probably benign |
Het |
Igkv6-15 |
A |
C |
6: 70,383,957 (GRCm39) |
V7G |
possibly damaging |
Het |
Katnal2 |
A |
T |
18: 77,099,705 (GRCm39) |
V143D |
probably benign |
Het |
Mepce |
A |
C |
5: 137,780,955 (GRCm39) |
I617S |
probably damaging |
Het |
Mms19 |
C |
T |
19: 41,943,201 (GRCm39) |
R320Q |
possibly damaging |
Het |
Nt5c2 |
T |
C |
19: 46,880,682 (GRCm39) |
Y353C |
probably damaging |
Het |
Or5p76 |
A |
G |
7: 108,123,097 (GRCm39) |
L20S |
probably damaging |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Pitpnm2 |
A |
T |
5: 124,259,996 (GRCm39) |
D1111E |
probably benign |
Het |
Plin5 |
C |
A |
17: 56,421,066 (GRCm39) |
V200L |
probably benign |
Het |
Rab3a |
T |
C |
8: 71,208,569 (GRCm39) |
F23L |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,383,207 (GRCm39) |
K353R |
probably benign |
Het |
S100a7l2 |
G |
A |
3: 90,997,637 (GRCm39) |
T26M |
possibly damaging |
Het |
Senp7 |
A |
G |
16: 56,000,889 (GRCm39) |
D887G |
probably benign |
Het |
Sftpb |
G |
T |
6: 72,283,876 (GRCm39) |
A158S |
probably benign |
Het |
Sh2d2a |
A |
C |
3: 87,754,976 (GRCm39) |
T23P |
probably damaging |
Het |
Siglecf |
T |
C |
7: 43,004,532 (GRCm39) |
L287P |
probably benign |
Het |
Slc4a1 |
T |
A |
11: 102,249,080 (GRCm39) |
I233F |
possibly damaging |
Het |
Spef2 |
T |
C |
15: 9,596,777 (GRCm39) |
Q1424R |
probably damaging |
Het |
Tbc1d14 |
T |
C |
5: 36,664,932 (GRCm39) |
D567G |
probably damaging |
Het |
Tmem106b |
T |
G |
6: 13,081,559 (GRCm39) |
N155K |
probably damaging |
Het |
Vmn2r2 |
C |
A |
3: 64,024,377 (GRCm39) |
V735F |
probably benign |
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 |
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 |
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'- TGCTAGAACAGTGAAGGCAC -3'
(R):5'- CGGAAAATGCTTTAGAGTCAGG -3'
Sequencing Primer
(F):5'- CTGCCACATTCTTTACACTGAAAGGG -3'
(R):5'- TGGAATCAGATTATGAAGCTCAAC -3'
|
Posted On |
2016-07-22 |