Incidental Mutation 'R6494:Zfp108'
| ID |
522956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp108
|
| Ensembl Gene |
ENSMUSG00000030486 |
| Gene Name |
zinc finger protein 108 |
| Synonyms |
|
| MMRRC Submission |
044626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6494 (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 A
at 23960782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 458
(F458I)
|
| 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: F458I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072496
Gene: ENSMUSG00000030486
AA Change: F458I
| 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: F458I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206777
AA Change: F458I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6263 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
C |
7: 27,315,774 (GRCm39) |
L52P |
possibly damaging |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chic2 |
T |
C |
5: 75,204,943 (GRCm39) |
E6G |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
| Col5a2 |
C |
A |
1: 45,417,487 (GRCm39) |
D1363Y |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,261,709 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
A |
T |
1: 46,138,591 (GRCm39) |
Y211F |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,990,845 (GRCm39) |
Y5460F |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,928,523 (GRCm39) |
|
probably null |
Het |
| Eno4 |
T |
A |
19: 58,951,226 (GRCm39) |
Y237N |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,887,390 (GRCm39) |
D602V |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,800,280 (GRCm39) |
N337S |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,907,423 (GRCm39) |
R3203C |
possibly damaging |
Het |
| Gbp2 |
T |
A |
3: 142,337,769 (GRCm39) |
V295E |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,765,745 (GRCm39) |
I366M |
possibly damaging |
Het |
| Itsn2 |
C |
T |
12: 4,684,792 (GRCm39) |
R448* |
probably null |
Het |
| Klhl35 |
G |
T |
7: 99,122,106 (GRCm39) |
W69L |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,072,474 (GRCm39) |
I154V |
probably benign |
Het |
| Lax1 |
T |
A |
1: 133,608,186 (GRCm39) |
Y185F |
probably damaging |
Het |
| Mmp12 |
C |
T |
9: 7,353,479 (GRCm39) |
P208L |
probably damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,744 (GRCm39) |
V33M |
probably null |
Het |
| Nptn |
T |
G |
9: 58,531,035 (GRCm39) |
C169G |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,885,671 (GRCm39) |
E766V |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,139,520 (GRCm39) |
N149I |
possibly damaging |
Het |
| Or12e14 |
A |
T |
2: 87,187,976 (GRCm39) |
K63* |
probably null |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,509,429 (GRCm39) |
N721S |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,472,588 (GRCm39) |
W1590R |
possibly damaging |
Het |
| Prph2 |
A |
G |
17: 47,222,007 (GRCm39) |
T129A |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,359,640 (GRCm39) |
K403N |
probably benign |
Het |
| Rbck1 |
T |
C |
2: 152,172,886 (GRCm39) |
D54G |
possibly damaging |
Het |
| Serpinb7 |
T |
A |
1: 107,363,076 (GRCm39) |
L80* |
probably null |
Het |
| Setdb2 |
T |
A |
14: 59,639,863 (GRCm39) |
Y676F |
probably benign |
Het |
| Skint1 |
G |
T |
4: 111,867,909 (GRCm39) |
C12F |
probably benign |
Het |
| Slc22a26 |
T |
A |
19: 7,779,651 (GRCm39) |
D55V |
probably damaging |
Het |
| Slc9a8 |
G |
A |
2: 167,266,211 (GRCm39) |
V63I |
probably damaging |
Het |
| Sox2 |
T |
A |
3: 34,705,246 (GRCm39) |
S228T |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,924 (GRCm39) |
N419S |
possibly damaging |
Het |
| Spg11 |
A |
G |
2: 121,943,706 (GRCm39) |
S149P |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 53,986,725 (GRCm39) |
S45T |
probably benign |
Het |
| Tsacc |
T |
C |
3: 88,202,703 (GRCm39) |
E11G |
probably benign |
Het |
| Ttc7b |
C |
T |
12: 100,461,666 (GRCm39) |
A104T |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Zfp616 |
A |
T |
11: 73,976,018 (GRCm39) |
K762N |
probably damaging |
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 |
|
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 |
|
RF019:Zfp108
|
UTSW |
7 |
23,961,032 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCACAGCTCAACTCTTCAG -3'
(R):5'- GATTGAGGCCTGACGGAAC -3'
Sequencing Primer
(F):5'- TGGCAAACGCTTCAGCTGTAG -3'
(R):5'- CTGCAGACTTGAGGCATGACTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation