Incidental Mutation 'R7856:Zfp850'
| ID |
607235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp850
|
| Ensembl Gene |
ENSMUSG00000096916 |
| Gene Name |
zinc finger protein 850 |
| Synonyms |
C130069I09Rik, Gm4636 |
| MMRRC Submission |
045909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R7856 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27684279-27713540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27689899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 103
(I103T)
|
| 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: I103T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000137192
Gene: ENSMUSG00000096916
AA Change: I103T
| 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: I103T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000141063
Gene: ENSMUSG00000096916
AA Change: I103T
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1h |
T |
C |
17: 25,608,451 (GRCm39) |
T819A |
probably damaging |
Het |
| Ccdc34 |
T |
A |
2: 109,874,572 (GRCm39) |
Y310* |
probably null |
Het |
| Ccdc63 |
A |
G |
5: 122,268,006 (GRCm39) |
W8R |
probably benign |
Het |
| Ces2g |
G |
A |
8: 105,693,014 (GRCm39) |
V351I |
not run |
Het |
| Ces3b |
A |
G |
8: 105,819,894 (GRCm39) |
*572W |
probably null |
Het |
| Dgka |
T |
C |
10: 128,572,533 (GRCm39) |
N40S |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,044,684 (GRCm39) |
R1835L |
possibly damaging |
Het |
| Dusp7 |
C |
A |
9: 106,246,067 (GRCm39) |
A24E |
unknown |
Het |
| Ep400 |
T |
A |
5: 110,814,450 (GRCm39) |
T2931S |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,395 (GRCm39) |
L365Q |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,748,342 (GRCm39) |
T249M |
probably benign |
Het |
| Hook3 |
T |
C |
8: 26,525,249 (GRCm39) |
D619G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,705,375 (GRCm39) |
|
probably null |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mx1 |
A |
G |
16: 97,256,735 (GRCm39) |
I148T |
probably damaging |
Het |
| Or5m3 |
T |
A |
2: 85,838,640 (GRCm39) |
N173K |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,272,885 (GRCm39) |
E68G |
probably damaging |
Het |
| Orc3 |
T |
C |
4: 34,585,647 (GRCm39) |
I416V |
probably benign |
Het |
| Plcxd3 |
A |
T |
15: 4,546,581 (GRCm39) |
Y195F |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,025 (GRCm39) |
I963N |
probably benign |
Het |
| Ppp1r7 |
A |
G |
1: 93,278,068 (GRCm39) |
D69G |
possibly damaging |
Het |
| Rars1 |
A |
G |
11: 35,699,412 (GRCm39) |
V627A |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,605,472 (GRCm39) |
S973P |
probably benign |
Het |
| Slc22a28 |
T |
C |
19: 8,040,698 (GRCm39) |
T518A |
probably damaging |
Het |
| Slc4a9 |
C |
T |
18: 36,661,751 (GRCm39) |
H92Y |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,146 (GRCm39) |
D1631G |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,774,728 (GRCm39) |
W746R |
unknown |
Het |
| Thsd4 |
A |
T |
9: 59,910,144 (GRCm39) |
L508Q |
probably damaging |
Het |
| Tlx1 |
C |
T |
19: 45,144,427 (GRCm39) |
Q292* |
probably null |
Het |
| Ttc34 |
T |
C |
4: 154,945,743 (GRCm39) |
V259A |
probably benign |
Het |
| Xrn2 |
T |
G |
2: 146,910,393 (GRCm39) |
|
probably null |
Het |
| Yif1b |
A |
G |
7: 28,944,045 (GRCm39) |
D137G |
possibly damaging |
Het |
| Zfp937 |
T |
C |
2: 150,081,467 (GRCm39) |
V499A |
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 |
|
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 |
|
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'- TGTGGCAGGTATAAGTGAGC -3'
(R):5'- GAGCAGACACACTTCCATTTC -3'
Sequencing Primer
(F):5'- CCTTGACAACCCTGTAGT -3'
(R):5'- CCATTTCCAAGTGATCTACTGTAAGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation