Incidental Mutation 'IGL00944:Zfp112'
| ID |
27848 |
| 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 # |
IGL00944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
23811739-23827377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23825021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 330
(Q330K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005413]
[ENSMUST00000120006]
[ENSMUST00000215113]
|
| AlphaFold |
Q0VAW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005413
AA Change: Q334K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: Q334K
| 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 benign
Transcript: ENSMUST00000120006
AA Change: Q328K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: Q328K
| 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 benign
Transcript: ENSMUST00000215113
AA Change: Q330K
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| 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 |
|---|
| Atp10b |
A |
G |
11: 43,092,988 (GRCm39) |
N441S |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,974,166 (GRCm39) |
C2383R |
probably benign |
Het |
| Dapk3 |
G |
T |
10: 81,019,910 (GRCm39) |
|
probably null |
Het |
| Dock6 |
T |
C |
9: 21,757,930 (GRCm39) |
D58G |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,534,865 (GRCm39) |
V107I |
possibly damaging |
Het |
| Fam163b |
A |
G |
2: 27,003,597 (GRCm39) |
L19P |
probably damaging |
Het |
| Fbxl20 |
A |
C |
11: 98,004,068 (GRCm39) |
F73L |
probably damaging |
Het |
| Foxj2 |
T |
C |
6: 122,816,594 (GRCm39) |
L492P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,049,996 (GRCm39) |
V391E |
possibly damaging |
Het |
| Ift74 |
T |
C |
4: 94,581,259 (GRCm39) |
Y586H |
probably damaging |
Het |
| Klhl12 |
A |
G |
1: 134,411,491 (GRCm39) |
N280S |
probably benign |
Het |
| Lctl |
T |
A |
9: 64,040,411 (GRCm39) |
Y292* |
probably null |
Het |
| Ltb |
C |
A |
17: 35,413,642 (GRCm39) |
Q49K |
possibly damaging |
Het |
| Mapk1 |
T |
A |
16: 16,853,322 (GRCm39) |
D289E |
probably benign |
Het |
| Mideas |
A |
G |
12: 84,207,322 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,980,609 (GRCm39) |
|
probably benign |
Het |
| Myot |
T |
C |
18: 44,470,181 (GRCm39) |
S53P |
possibly damaging |
Het |
| Opn5 |
G |
A |
17: 42,922,119 (GRCm39) |
L28F |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,719 (GRCm39) |
Y142N |
probably benign |
Het |
| Or8k39 |
A |
G |
2: 86,563,905 (GRCm39) |
I17T |
possibly damaging |
Het |
| Pals2 |
T |
C |
6: 50,140,436 (GRCm39) |
V152A |
possibly damaging |
Het |
| Pld1 |
T |
A |
3: 28,099,247 (GRCm39) |
|
probably null |
Het |
| Rc3h2 |
A |
G |
2: 37,288,250 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,730,585 (GRCm39) |
H1009L |
possibly damaging |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Sh3bp1 |
A |
T |
15: 78,789,314 (GRCm39) |
D288V |
possibly damaging |
Het |
| Smpd4 |
T |
C |
16: 17,460,621 (GRCm39) |
I809T |
probably benign |
Het |
| Spata6 |
C |
T |
4: 111,663,125 (GRCm39) |
|
probably benign |
Het |
| Trnau1ap |
C |
A |
4: 132,055,817 (GRCm39) |
V30L |
possibly damaging |
Het |
| Trpm4 |
T |
C |
7: 44,967,773 (GRCm39) |
H386R |
probably benign |
Het |
| Ttc3 |
T |
G |
16: 94,227,620 (GRCm39) |
|
probably null |
Het |
| Ufd1 |
T |
C |
16: 18,643,781 (GRCm39) |
V180A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,899,154 (GRCm39) |
I499V |
probably damaging |
Het |
| Zfp668 |
G |
A |
7: 127,467,079 (GRCm39) |
R166W |
probably damaging |
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 |
|
IGL01662:Zfp112
|
APN |
7 |
23,825,379 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03383:Zfp112
|
APN |
7 |
23,825,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-04-17 |
Incidental Mutation