Incidental Mutation 'IGL03383:Zfp112'
| ID |
420770 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp112
|
| Ensembl Gene |
ENSMUSG00000052675 |
| Gene Name |
zinc finger protein 112 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
IGL03383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
23811739-23827377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23825103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 357
(S357Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005413]
[ENSMUST00000120006]
[ENSMUST00000215113]
|
| AlphaFold |
Q0VAW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005413
AA Change: S361Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: S361Y
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
7.93e-27 |
SMART |
|
low complexity region
|
385 |
397 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
523 |
545 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
579 |
601 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
607 |
629 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
635 |
657 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
663 |
685 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
691 |
713 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
719 |
741 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
747 |
769 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
775 |
797 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
803 |
825 |
2.01e-5 |
SMART |
|
ZnF_C2H2
|
831 |
853 |
1.36e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120006
AA Change: S355Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: S355Y
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
62 |
7.93e-27 |
SMART |
|
low complexity region
|
379 |
391 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
517 |
539 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
545 |
567 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
573 |
595 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
601 |
623 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
629 |
651 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
657 |
679 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
685 |
707 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
713 |
735 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
741 |
763 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
769 |
791 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
797 |
819 |
2.01e-5 |
SMART |
|
ZnF_C2H2
|
825 |
847 |
1.36e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215113
AA Change: S357Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl4 |
C |
T |
4: 111,514,620 (GRCm39) |
|
probably benign |
Het |
| Cit |
T |
C |
5: 116,011,904 (GRCm39) |
|
probably benign |
Het |
| Clmp |
A |
G |
9: 40,685,737 (GRCm39) |
N211S |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,330,722 (GRCm39) |
|
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,753,418 (GRCm39) |
|
probably benign |
Het |
| Dnajb9 |
C |
T |
12: 44,255,096 (GRCm39) |
|
probably benign |
Het |
| Ece2 |
T |
A |
16: 20,451,847 (GRCm39) |
N411K |
possibly damaging |
Het |
| Fshr |
A |
G |
17: 89,354,127 (GRCm39) |
I77T |
possibly damaging |
Het |
| Fshr |
A |
G |
17: 89,293,121 (GRCm39) |
M519T |
probably damaging |
Het |
| Gm10654 |
G |
A |
8: 71,384,775 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5093 |
A |
G |
17: 46,750,517 (GRCm39) |
I170T |
probably benign |
Het |
| Meis3 |
A |
G |
7: 15,917,744 (GRCm39) |
K299R |
probably damaging |
Het |
| Nxf1 |
T |
C |
19: 8,741,061 (GRCm39) |
F15L |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,670,076 (GRCm39) |
D343G |
probably benign |
Het |
| Or4a73 |
A |
T |
2: 89,420,656 (GRCm39) |
Y268N |
probably benign |
Het |
| Polr3k |
A |
G |
2: 181,507,820 (GRCm39) |
T65A |
probably damaging |
Het |
| Preb |
A |
T |
5: 31,115,665 (GRCm39) |
W222R |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,360,671 (GRCm39) |
I56T |
probably damaging |
Het |
| Rtkn2 |
A |
G |
10: 67,853,667 (GRCm39) |
T232A |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,318,064 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
A |
T |
2: 62,097,780 (GRCm39) |
K493M |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,991,777 (GRCm39) |
K112E |
probably damaging |
Het |
| Sugp1 |
A |
T |
8: 70,522,217 (GRCm39) |
|
probably benign |
Het |
| Tasor |
A |
G |
14: 27,163,918 (GRCm39) |
I235V |
possibly damaging |
Het |
| Tmem156 |
T |
C |
5: 65,233,040 (GRCm39) |
E139G |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,439,834 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
G |
A |
1: 169,986,460 (GRCm39) |
T174M |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,304,398 (GRCm39) |
T678A |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,222,556 (GRCm39) |
C555S |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,894,889 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
C |
16: 21,254,573 (GRCm39) |
|
probably null |
Het |
| Wee1 |
A |
G |
7: 109,738,899 (GRCm39) |
N590S |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,586,080 (GRCm39) |
K48* |
probably null |
Het |
| Zscan4d |
A |
G |
7: 10,896,692 (GRCm39) |
V226A |
probably benign |
Het |
|
| Other mutations in Zfp112 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Zfp112
|
APN |
7 |
23,821,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00575:Zfp112
|
APN |
7 |
23,825,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00944:Zfp112
|
APN |
7 |
23,825,021 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01662:Zfp112
|
APN |
7 |
23,825,379 (GRCm39) |
missense |
probably benign |
0.44 |
|
2107:Zfp112
|
UTSW |
7 |
23,826,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4737:Zfp112
|
UTSW |
7 |
23,824,832 (GRCm39) |
small insertion |
probably benign |
|
|
R0566:Zfp112
|
UTSW |
7 |
23,825,102 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0581:Zfp112
|
UTSW |
7 |
23,825,288 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0613:Zfp112
|
UTSW |
7 |
23,826,453 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1521:Zfp112
|
UTSW |
7 |
23,825,210 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1614:Zfp112
|
UTSW |
7 |
23,826,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Zfp112
|
UTSW |
7 |
23,824,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1906:Zfp112
|
UTSW |
7 |
23,821,720 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1920:Zfp112
|
UTSW |
7 |
23,824,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2008:Zfp112
|
UTSW |
7 |
23,826,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Zfp112
|
UTSW |
7 |
23,824,725 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2192:Zfp112
|
UTSW |
7 |
23,824,863 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2985:Zfp112
|
UTSW |
7 |
23,821,720 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4191:Zfp112
|
UTSW |
7 |
23,825,568 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4373:Zfp112
|
UTSW |
7 |
23,824,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4374:Zfp112
|
UTSW |
7 |
23,825,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Zfp112
|
UTSW |
7 |
23,826,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Zfp112
|
UTSW |
7 |
23,825,685 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5023:Zfp112
|
UTSW |
7 |
23,825,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5198:Zfp112
|
UTSW |
7 |
23,824,281 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6559:Zfp112
|
UTSW |
7 |
23,825,888 (GRCm39) |
nonsense |
probably null |
|
|
R6835:Zfp112
|
UTSW |
7 |
23,825,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6946:Zfp112
|
UTSW |
7 |
23,824,766 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7263:Zfp112
|
UTSW |
7 |
23,824,952 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7512:Zfp112
|
UTSW |
7 |
23,824,604 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7533:Zfp112
|
UTSW |
7 |
23,824,752 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7535:Zfp112
|
UTSW |
7 |
23,826,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8179:Zfp112
|
UTSW |
7 |
23,825,063 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8516:Zfp112
|
UTSW |
7 |
23,823,389 (GRCm39) |
missense |
probably benign |
|
|
R8525:Zfp112
|
UTSW |
7 |
23,825,322 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8701:Zfp112
|
UTSW |
7 |
23,825,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Zfp112
|
UTSW |
7 |
23,824,997 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8853:Zfp112
|
UTSW |
7 |
23,823,390 (GRCm39) |
synonymous |
silent |
|
|
R8994:Zfp112
|
UTSW |
7 |
23,825,490 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9295:Zfp112
|
UTSW |
7 |
23,824,805 (GRCm39) |
missense |
probably benign |
|
|
R9530:Zfp112
|
UTSW |
7 |
23,824,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9537:Zfp112
|
UTSW |
7 |
23,826,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9559:Zfp112
|
UTSW |
7 |
23,826,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation