Incidental Mutation 'IGL01662:Zfp112'
| ID |
103207 |
| 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 # |
IGL01662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
23811739-23827377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23825379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 449
(H449R)
|
| 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: H453R
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: H453R
| 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: H447R
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: H447R
| 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: H449R
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
A |
T |
7: 119,137,511 (GRCm39) |
I402F |
probably damaging |
Het |
| Acvr2b |
T |
C |
9: 119,261,570 (GRCm39) |
Y388H |
probably damaging |
Het |
| Adh1 |
G |
A |
3: 137,988,512 (GRCm39) |
D162N |
possibly damaging |
Het |
| C6 |
G |
T |
15: 4,822,236 (GRCm39) |
R585I |
probably damaging |
Het |
| Ccdc169 |
T |
A |
3: 55,070,732 (GRCm39) |
|
probably null |
Het |
| Cdh13 |
T |
A |
8: 119,401,916 (GRCm39) |
M106K |
probably damaging |
Het |
| Cep78 |
C |
T |
19: 15,938,359 (GRCm39) |
E530K |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,546,487 (GRCm39) |
L533Q |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,460 (GRCm39) |
V1181A |
probably benign |
Het |
| Galnt7 |
T |
G |
8: 57,984,769 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,498 (GRCm39) |
R61C |
unknown |
Het |
| Gucy1a1 |
T |
A |
3: 82,016,560 (GRCm39) |
I143F |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,613,050 (GRCm39) |
N1410D |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,856,020 (GRCm39) |
T741I |
probably benign |
Het |
| Mdc1 |
T |
C |
17: 36,163,397 (GRCm39) |
S982P |
probably benign |
Het |
| Mfsd4b2 |
A |
G |
10: 39,798,193 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
G |
7: 47,818,172 (GRCm39) |
I188L |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,862 (GRCm39) |
S554C |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,220,957 (GRCm39) |
N1715D |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,605,119 (GRCm39) |
S985T |
possibly damaging |
Het |
| Nme7 |
A |
G |
1: 164,155,866 (GRCm39) |
Q22R |
probably benign |
Het |
| Or52i2 |
T |
C |
7: 102,319,927 (GRCm39) |
W267R |
probably damaging |
Het |
| Otulinl |
C |
T |
15: 27,658,151 (GRCm39) |
D290N |
probably damaging |
Het |
| Pabir1 |
A |
G |
19: 24,453,948 (GRCm39) |
V258A |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,322 (GRCm39) |
E815G |
probably damaging |
Het |
| Ppp2r2c |
T |
A |
5: 37,083,744 (GRCm39) |
I95N |
probably damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,569,225 (GRCm39) |
E717K |
possibly damaging |
Het |
| Prdm2 |
A |
G |
4: 142,860,138 (GRCm39) |
S1051P |
possibly damaging |
Het |
| Rnf214 |
T |
C |
9: 45,811,084 (GRCm39) |
D193G |
probably damaging |
Het |
| Sirpb1b |
G |
T |
3: 15,608,244 (GRCm39) |
T167K |
probably damaging |
Het |
| Slc16a3 |
C |
A |
11: 120,847,532 (GRCm39) |
S240* |
probably null |
Het |
| Snx14 |
T |
A |
9: 88,267,891 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,256,866 (GRCm39) |
|
probably benign |
Het |
| Stk-ps2 |
A |
T |
1: 46,068,522 (GRCm39) |
|
noncoding transcript |
Het |
| Taar7b |
A |
T |
10: 23,875,874 (GRCm39) |
D13V |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,066,506 (GRCm39) |
E740G |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,115,279 (GRCm39) |
A2054V |
possibly damaging |
Het |
| Zfp106 |
A |
G |
2: 120,354,034 (GRCm39) |
V211A |
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 |
|
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 |
2014-01-21 |
Incidental Mutation