Incidental Mutation 'R6735:Zfp108'
| ID |
530183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp108
|
| Ensembl Gene |
ENSMUSG00000030486 |
| Gene Name |
zinc finger protein 108 |
| Synonyms |
|
| MMRRC Submission |
044853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6735 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23954219-23961870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23961197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 596
(F596S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072713]
[ENSMUST00000205982]
[ENSMUST00000206777]
|
| AlphaFold |
E9Q8I5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072713
AA Change: F596S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072496
Gene: ENSMUSG00000030486
AA Change: F596S
| 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 damaging
Transcript: ENSMUST00000205982
AA Change: F596S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206777
AA Change: F596S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6259 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,026,274 (GRCm39) |
T265A |
probably benign |
Het |
| Adap1 |
A |
T |
5: 139,278,900 (GRCm39) |
Y127N |
probably damaging |
Het |
| Alg8 |
T |
C |
7: 97,032,189 (GRCm39) |
F246S |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,518,098 (GRCm39) |
Y68H |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,966 (GRCm39) |
S906P |
probably benign |
Het |
| C9 |
A |
T |
15: 6,519,387 (GRCm39) |
D408V |
probably benign |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Cpeb4 |
T |
A |
11: 31,874,700 (GRCm39) |
Y174N |
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,683,351 (GRCm39) |
Y289H |
probably damaging |
Het |
| Erbin |
A |
T |
13: 104,020,718 (GRCm39) |
D80E |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,910,182 (GRCm39) |
E829V |
possibly damaging |
Het |
| Foxn2 |
T |
G |
17: 88,794,223 (GRCm39) |
S387A |
probably benign |
Het |
| Hapstr1 |
T |
A |
16: 8,673,764 (GRCm39) |
H230Q |
probably benign |
Het |
| Irag2 |
T |
C |
6: 145,106,619 (GRCm39) |
L201S |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
| Lhx6 |
T |
G |
2: 35,981,390 (GRCm39) |
D67A |
probably damaging |
Het |
| Lmbr1l |
A |
T |
15: 98,807,121 (GRCm39) |
M220K |
probably damaging |
Het |
| Macroh2a2 |
A |
G |
10: 61,577,046 (GRCm39) |
I274T |
probably damaging |
Het |
| Naa35 |
T |
C |
13: 59,773,378 (GRCm39) |
L111P |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,041,902 (GRCm39) |
V1307E |
probably damaging |
Het |
| Nts |
T |
A |
10: 102,320,859 (GRCm39) |
M77L |
probably benign |
Het |
| Or5m11b |
A |
C |
2: 85,805,778 (GRCm39) |
S64R |
possibly damaging |
Het |
| Pigz |
A |
G |
16: 31,764,361 (GRCm39) |
N473S |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,628,195 (GRCm39) |
D423G |
probably damaging |
Het |
| Plac8 |
A |
G |
5: 100,710,485 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
T |
C |
18: 42,821,653 (GRCm39) |
|
probably null |
Het |
| Proc |
T |
C |
18: 32,256,701 (GRCm39) |
N322S |
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,573,398 (GRCm39) |
|
probably null |
Het |
| Safb |
A |
G |
17: 56,892,169 (GRCm39) |
|
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,341,486 (GRCm39) |
D216G |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,215,048 (GRCm39) |
E345G |
possibly damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,398,983 (GRCm39) |
K197* |
probably null |
Het |
| Suv39h1 |
C |
A |
X: 7,929,138 (GRCm39) |
R397L |
probably damaging |
Homo |
| Thbs4 |
T |
A |
13: 92,891,674 (GRCm39) |
M814L |
possibly damaging |
Het |
| Tmem14a |
T |
A |
1: 21,299,805 (GRCm39) |
|
probably benign |
Het |
| Tmprss11d |
C |
A |
5: 86,457,159 (GRCm39) |
A167S |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,629,252 (GRCm39) |
C14362F |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 123,004,272 (GRCm39) |
I161V |
possibly damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,181,138 (GRCm39) |
L134P |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,713,586 (GRCm39) |
E73G |
possibly damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,358,402 (GRCm39) |
M617K |
possibly damaging |
Het |
| Zc3h3 |
G |
A |
15: 75,628,483 (GRCm39) |
T937I |
probably benign |
Het |
| Zeb2 |
C |
T |
2: 45,000,028 (GRCm39) |
V25M |
probably null |
Het |
| Zfyve1 |
T |
A |
12: 83,641,618 (GRCm39) |
N13Y |
possibly damaging |
Het |
| Zswim2 |
T |
C |
2: 83,754,105 (GRCm39) |
D185G |
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 |
|
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 |
|
RF019:Zfp108
|
UTSW |
7 |
23,961,032 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCCGTCAGGCCTCAATC -3'
(R):5'- CTGAGTGCAGAACAAACCTAGG -3'
Sequencing Primer
(F):5'- GTCAGGCCTCAATCCTCCAG -3'
(R):5'- CACTGTGGGCCCTCTAATGATAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation