Incidental Mutation 'R9537:Zfp112'
| ID |
719740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp112
|
| Ensembl Gene |
ENSMUSG00000052675 |
| Gene Name |
zinc finger protein 112 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R9537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
23811739-23827377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23826512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 831
(Y831H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005413]
[ENSMUST00000120006]
[ENSMUST00000215113]
|
| AlphaFold |
Q0VAW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005413
AA Change: Y831H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: Y831H
| 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: Y825H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: Y825H
| 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: Y827H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
G |
5: 50,118,207 (GRCm39) |
Y1114H |
possibly damaging |
Het |
| Atp5pf |
A |
G |
16: 84,625,358 (GRCm39) |
Y82H |
probably damaging |
Het |
| Bcl2a1d |
T |
G |
9: 88,613,526 (GRCm39) |
I83L |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Bglap3 |
T |
C |
3: 88,276,139 (GRCm39) |
D71G |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Chmp2b |
T |
C |
16: 65,347,932 (GRCm39) |
K15E |
probably benign |
Het |
| Chrm3 |
A |
T |
13: 9,927,462 (GRCm39) |
W525R |
probably damaging |
Het |
| Col7a1 |
A |
T |
9: 108,784,420 (GRCm39) |
K143* |
probably null |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dnai1 |
A |
G |
4: 41,629,790 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
G |
A |
7: 105,344,740 (GRCm39) |
G2028D |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,199,292 (GRCm39) |
R773Q |
probably damaging |
Het |
| Ffar1 |
T |
C |
7: 30,560,025 (GRCm39) |
T291A |
probably benign |
Het |
| Golga2 |
G |
T |
2: 32,178,313 (GRCm39) |
|
probably benign |
Het |
| Hapln2 |
T |
A |
3: 87,931,780 (GRCm39) |
|
probably null |
Het |
| Ing1 |
T |
C |
8: 11,611,889 (GRCm39) |
L203P |
probably benign |
Het |
| Litafd |
G |
T |
16: 8,501,177 (GRCm39) |
C11F |
|
Het |
| Mab21l4 |
T |
C |
1: 93,080,884 (GRCm39) |
K341E |
possibly damaging |
Het |
| Med1 |
T |
C |
11: 98,062,586 (GRCm39) |
T171A |
possibly damaging |
Het |
| Mib2 |
A |
T |
4: 155,741,952 (GRCm39) |
L387H |
probably damaging |
Het |
| Mier1 |
A |
G |
4: 103,019,758 (GRCm39) |
N494S |
probably benign |
Het |
| Myof |
A |
G |
19: 37,896,054 (GRCm39) |
L1847P |
probably damaging |
Het |
| Ndst3 |
A |
T |
3: 123,465,162 (GRCm39) |
V270D |
|
Het |
| Nup160 |
T |
C |
2: 90,560,088 (GRCm39) |
L1271S |
possibly damaging |
Het |
| Osgep |
A |
T |
14: 51,162,119 (GRCm39) |
|
probably null |
Het |
| Ptgfr |
G |
T |
3: 151,541,445 (GRCm39) |
T21N |
possibly damaging |
Het |
| Ptgs1 |
T |
C |
2: 36,120,739 (GRCm39) |
S23P |
unknown |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Smu1 |
A |
G |
4: 40,755,671 (GRCm39) |
S65P |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,601,885 (GRCm39) |
Y1459C |
unknown |
Het |
| Spen |
A |
G |
4: 141,199,015 (GRCm39) |
V3204A |
probably benign |
Het |
| Spen |
TTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTG |
4: 141,244,156 (GRCm39) |
|
probably benign |
Het |
| Timm44 |
G |
A |
8: 4,310,576 (GRCm39) |
T392I |
possibly damaging |
Het |
| Tnc |
A |
T |
4: 63,884,821 (GRCm39) |
I1818N |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,803,616 (GRCm39) |
|
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,857,347 (GRCm39) |
Y231C |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,525,245 (GRCm39) |
R23G |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,935,117 (GRCm39) |
Y10C |
probably benign |
Het |
| Vmn2r107 |
C |
A |
17: 20,595,149 (GRCm39) |
S567R |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,108,596 (GRCm39) |
T355S |
|
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 |
|
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 |
|
R9559:Zfp112
|
UTSW |
7 |
23,826,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCAGTGAGAGTTCCCGCC -3'
(R):5'- ATGGTGGGTACAAACAGTATGTCTC -3'
Sequencing Primer
(F):5'- CAGGCACATCAGAGGATCCATG -3'
(R):5'- ACTCTCCACTCCTGTAGA -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation