Incidental Mutation 'R5220:Zfp109'
| ID |
402269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp109
|
| Ensembl Gene |
ENSMUSG00000074283 |
| Gene Name |
zinc finger protein 109 |
| Synonyms |
|
| MMRRC Submission |
042793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5220 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
23926997-23936985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23928179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 418
(V418A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037448]
[ENSMUST00000206362]
[ENSMUST00000206960]
|
| AlphaFold |
A0A0U1RPC5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037448
AA Change: V410A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000045498
Gene: ENSMUSG00000074283
AA Change: V410A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
74 |
8.77e-20 |
SMART |
|
ZnF_C2H2
|
283 |
305 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
311 |
333 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
367 |
387 |
5.54e1 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
421 |
443 |
8.67e-1 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
477 |
499 |
7.49e-5 |
SMART |
|
ZnF_C2H2
|
505 |
527 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
533 |
555 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
561 |
583 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
589 |
611 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
617 |
639 |
4.4e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206362
AA Change: V410A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206960
AA Change: V418A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,738,045 (GRCm39) |
E250G |
probably damaging |
Het |
| Adgra1 |
A |
G |
7: 139,455,512 (GRCm39) |
N380S |
probably benign |
Het |
| Ap3d1 |
G |
A |
10: 80,563,001 (GRCm39) |
P160L |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,162,372 (GRCm39) |
V505M |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,543,102 (GRCm39) |
I747F |
probably damaging |
Het |
| Clec2g |
A |
G |
6: 128,958,269 (GRCm39) |
S100G |
probably benign |
Het |
| Cmya5 |
G |
T |
13: 93,228,804 (GRCm39) |
P2095T |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,373,909 (GRCm39) |
W445R |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,207,012 (GRCm39) |
L159M |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,233,776 (GRCm39) |
D285G |
possibly damaging |
Het |
| Fras1 |
C |
T |
5: 96,916,222 (GRCm39) |
R3419W |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,197,672 (GRCm39) |
|
probably null |
Het |
| Ghdc |
T |
C |
11: 100,660,543 (GRCm39) |
E110G |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,325,562 (GRCm39) |
T309A |
probably benign |
Het |
| Helb |
A |
C |
10: 119,937,391 (GRCm39) |
F618V |
probably damaging |
Het |
| Hycc1 |
A |
C |
5: 24,170,220 (GRCm39) |
S376R |
possibly damaging |
Het |
| Ifi211 |
A |
G |
1: 173,735,262 (GRCm39) |
F56L |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,950,160 (GRCm39) |
F1988L |
probably damaging |
Het |
| Mapk13 |
G |
A |
17: 28,997,465 (GRCm39) |
S361N |
probably benign |
Het |
| Mapk3 |
A |
G |
7: 126,363,408 (GRCm39) |
I146V |
probably benign |
Het |
| Megf6 |
G |
A |
4: 154,338,295 (GRCm39) |
|
probably null |
Het |
| Mug1 |
G |
T |
6: 121,838,092 (GRCm39) |
V441F |
probably benign |
Het |
| Mymk |
A |
G |
2: 26,952,226 (GRCm39) |
S173P |
probably benign |
Het |
| Nox4 |
A |
G |
7: 87,023,616 (GRCm39) |
T501A |
possibly damaging |
Het |
| Or13c7 |
C |
A |
4: 43,854,624 (GRCm39) |
S105Y |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or52n2 |
T |
C |
7: 104,542,104 (GRCm39) |
T244A |
possibly damaging |
Het |
| Prkcb |
C |
A |
7: 121,888,678 (GRCm39) |
H37Q |
probably damaging |
Het |
| Rabggtb |
A |
G |
3: 153,615,024 (GRCm39) |
F189L |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,281,471 (GRCm39) |
I75T |
unknown |
Het |
| Slc10a5 |
T |
A |
3: 10,400,148 (GRCm39) |
R171* |
probably null |
Het |
| Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
| Slc1a5 |
T |
A |
7: 16,527,759 (GRCm39) |
W352R |
probably damaging |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,555,460 (GRCm39) |
M190T |
probably damaging |
Het |
| Tmeff2 |
A |
G |
1: 51,018,476 (GRCm39) |
M153V |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,796,696 (GRCm39) |
T279A |
probably damaging |
Het |
| Ubn1 |
G |
T |
16: 4,895,818 (GRCm39) |
A955S |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,239,500 (GRCm39) |
H1147Q |
possibly damaging |
Het |
| Vrk1 |
T |
A |
12: 106,039,865 (GRCm39) |
|
probably null |
Het |
| Zdhhc25 |
T |
A |
15: 88,485,365 (GRCm39) |
Y233* |
probably null |
Het |
|
| Other mutations in Zfp109 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00646:Zfp109
|
APN |
7 |
23,928,237 (GRCm39) |
nonsense |
probably null |
|
|
IGL01082:Zfp109
|
APN |
7 |
23,933,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02129:Zfp109
|
APN |
7 |
23,936,054 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
PIT4585001:Zfp109
|
UTSW |
7 |
23,928,779 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0319:Zfp109
|
UTSW |
7 |
23,933,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Zfp109
|
UTSW |
7 |
23,927,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Zfp109
|
UTSW |
7 |
23,927,676 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1930:Zfp109
|
UTSW |
7 |
23,928,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1931:Zfp109
|
UTSW |
7 |
23,928,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Zfp109
|
UTSW |
7 |
23,928,743 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2105:Zfp109
|
UTSW |
7 |
23,936,041 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2219:Zfp109
|
UTSW |
7 |
23,927,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2353:Zfp109
|
UTSW |
7 |
23,928,806 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3754:Zfp109
|
UTSW |
7 |
23,929,181 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4434:Zfp109
|
UTSW |
7 |
23,928,771 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4884:Zfp109
|
UTSW |
7 |
23,928,570 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5056:Zfp109
|
UTSW |
7 |
23,928,162 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5472:Zfp109
|
UTSW |
7 |
23,928,046 (GRCm39) |
nonsense |
probably null |
|
|
R5715:Zfp109
|
UTSW |
7 |
23,928,995 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5801:Zfp109
|
UTSW |
7 |
23,928,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6092:Zfp109
|
UTSW |
7 |
23,928,978 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6093:Zfp109
|
UTSW |
7 |
23,928,558 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6334:Zfp109
|
UTSW |
7 |
23,928,308 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6458:Zfp109
|
UTSW |
7 |
23,927,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6856:Zfp109
|
UTSW |
7 |
23,928,823 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6879:Zfp109
|
UTSW |
7 |
23,928,615 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7069:Zfp109
|
UTSW |
7 |
23,928,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7151:Zfp109
|
UTSW |
7 |
23,929,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7822:Zfp109
|
UTSW |
7 |
23,928,570 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8205:Zfp109
|
UTSW |
7 |
23,928,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8492:Zfp109
|
UTSW |
7 |
23,927,499 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1088:Zfp109
|
UTSW |
7 |
23,928,360 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1177:Zfp109
|
UTSW |
7 |
23,928,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCTGACTGAAACCCTT -3'
(R):5'- GTCAGAGCTCAGCACTTCAG -3'
Sequencing Primer
(F):5'- CTTGAGGCTGAAGTGAAACCCTTC -3'
(R):5'- GACGCTTCAGGTTTAGCTCAAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation