Incidental Mutation 'RF019:Zfp108'
| ID |
603737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp108
|
| Ensembl Gene |
ENSMUSG00000030486 |
| Gene Name |
zinc finger protein 108 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
RF019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
23954219-23961870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 23961032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 541
(R541L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072713]
[ENSMUST00000205982]
[ENSMUST00000206777]
|
| AlphaFold |
E9Q8I5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072713
AA Change: R541L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000072496
Gene: ENSMUSG00000030486
AA Change: R541L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
63 |
7.94e-18 |
SMART |
|
low complexity region
|
140 |
153 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
281 |
303 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
309 |
331 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
421 |
443 |
1.87e-5 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
477 |
497 |
1.08e1 |
SMART |
|
ZnF_C2H2
|
503 |
525 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
531 |
553 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
559 |
581 |
4.61e-5 |
SMART |
|
ZnF_C2H2
|
587 |
609 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
615 |
637 |
1.67e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205982
AA Change: R541L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206777
AA Change: R541L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
86% (36/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
A |
G |
1: 138,784,429 (GRCm39) |
S43P |
probably benign |
Het |
| 3110021N24Rik |
AGCGCGGCCGGG |
AG |
4: 108,637,827 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
A |
G |
8: 123,623,373 (GRCm39) |
V294A |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,324,611 (GRCm39) |
I181N |
probably damaging |
Het |
| Col6a1 |
T |
C |
10: 76,547,449 (GRCm39) |
M675V |
unknown |
Het |
| Colec11 |
A |
G |
12: 28,662,882 (GRCm39) |
V62A |
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,494,258 (GRCm39) |
T14A |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,004 (GRCm39) |
T531A |
probably benign |
Het |
| Fscb |
GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
12: 64,519,370 (GRCm39) |
|
probably benign |
Het |
| Garre1 |
A |
G |
7: 33,939,974 (GRCm39) |
F918L |
probably damaging |
Het |
| Gpr89 |
T |
C |
3: 96,812,509 (GRCm39) |
I11V |
probably benign |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,955,467 (GRCm39) |
V1261A |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,791,380 (GRCm39) |
H751N |
probably benign |
Het |
| Krtap28-10 |
CCACAGCCACAGCCA |
CCACAGCCACAGCCAACACAGCCACAGCCA |
1: 83,019,990 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,061 (GRCm39) |
K419E |
not run |
Het |
| Mast4 |
GGTGGTGGTGG |
GGTGGTGGTGGTGGTGG |
13: 102,872,815 (GRCm39) |
|
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,252,289 (GRCm39) |
W534R |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,829,055 (GRCm39) |
V2387A |
probably benign |
Het |
| Ncapg |
C |
A |
5: 45,856,198 (GRCm39) |
P949Q |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,885,713 (GRCm39) |
F796S |
probably damaging |
Het |
| Otol1 |
A |
T |
3: 69,925,933 (GRCm39) |
E36V |
probably benign |
Het |
| Pkhd1l1 |
TT |
TTTTTTTTTAT |
15: 44,421,903 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,203,423 (GRCm39) |
I1095T |
possibly damaging |
Het |
| Reep1 |
C |
CCGCG |
6: 71,684,953 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
GCAGCA |
GCAGCAACAGCA |
19: 26,608,401 (GRCm39) |
|
probably benign |
Het |
| Tcf20 |
T |
C |
15: 82,735,794 (GRCm39) |
I1886V |
probably benign |
Het |
| Txnrd1 |
T |
G |
10: 82,720,934 (GRCm39) |
|
probably null |
Het |
| Unc5b |
A |
G |
10: 60,618,962 (GRCm39) |
V60A |
probably damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,091 (GRCm39) |
V293E |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,468,327 (GRCm39) |
D2853E |
probably benign |
Het |
|
| Other mutations in Zfp108 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00591:Zfp108
|
APN |
7 |
23,960,911 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01392:Zfp108
|
APN |
7 |
23,957,872 (GRCm39) |
splice site |
probably benign |
|
|
R0123:Zfp108
|
UTSW |
7 |
23,959,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0126:Zfp108
|
UTSW |
7 |
23,960,149 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0134:Zfp108
|
UTSW |
7 |
23,959,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0243:Zfp108
|
UTSW |
7 |
23,961,208 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1227:Zfp108
|
UTSW |
7 |
23,959,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Zfp108
|
UTSW |
7 |
23,959,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Zfp108
|
UTSW |
7 |
23,959,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1731:Zfp108
|
UTSW |
7 |
23,957,964 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1739:Zfp108
|
UTSW |
7 |
23,960,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Zfp108
|
UTSW |
7 |
23,961,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Zfp108
|
UTSW |
7 |
23,961,270 (GRCm39) |
nonsense |
probably null |
|
|
R3839:Zfp108
|
UTSW |
7 |
23,959,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3919:Zfp108
|
UTSW |
7 |
23,960,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3922:Zfp108
|
UTSW |
7 |
23,960,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Zfp108
|
UTSW |
7 |
23,959,837 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4912:Zfp108
|
UTSW |
7 |
23,960,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Zfp108
|
UTSW |
7 |
23,959,573 (GRCm39) |
missense |
probably benign |
|
|
R4989:Zfp108
|
UTSW |
7 |
23,960,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5014:Zfp108
|
UTSW |
7 |
23,960,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5163:Zfp108
|
UTSW |
7 |
23,960,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5183:Zfp108
|
UTSW |
7 |
23,960,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5184:Zfp108
|
UTSW |
7 |
23,960,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5185:Zfp108
|
UTSW |
7 |
23,960,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5453:Zfp108
|
UTSW |
7 |
23,960,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5600:Zfp108
|
UTSW |
7 |
23,960,011 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6494:Zfp108
|
UTSW |
7 |
23,960,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6601:Zfp108
|
UTSW |
7 |
23,960,819 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6735:Zfp108
|
UTSW |
7 |
23,961,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7646:Zfp108
|
UTSW |
7 |
23,960,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7732:Zfp108
|
UTSW |
7 |
23,960,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7873:Zfp108
|
UTSW |
7 |
23,960,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8100:Zfp108
|
UTSW |
7 |
23,960,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8313:Zfp108
|
UTSW |
7 |
23,960,087 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9169:Zfp108
|
UTSW |
7 |
23,960,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9702:Zfp108
|
UTSW |
7 |
23,960,195 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAAGCATTTCACCTGGAG -3'
(R):5'- AGTGTGAGGCCTGACTGAAG -3'
Sequencing Primer
(F):5'- GAAGCATTTCACCTGGAGCCTTC -3'
(R):5'- CACTGCTGACACATGTAGGGTTTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation