Incidental Mutation 'R0566:Zfp112'
ID |
46182 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp112
|
Ensembl Gene |
ENSMUSG00000052675 |
Gene Name |
zinc finger protein 112 |
Synonyms |
|
MMRRC Submission |
038757-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R0566 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
23811739-23827377 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23825102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 357
(S357P)
|
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: S361P
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000005413 Gene: ENSMUSG00000052675 AA Change: S361P
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: S355P
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000113031 Gene: ENSMUSG00000052675 AA Change: S355P
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: S357P
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
Meta Mutation Damage Score |
0.0623 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
96% (24/25) |
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
T |
C |
8: 123,508,266 (GRCm39) |
L254P |
possibly damaging |
Het |
Adamts6 |
C |
A |
13: 104,581,435 (GRCm39) |
A850E |
probably benign |
Het |
Ccdc112 |
A |
C |
18: 46,423,877 (GRCm39) |
V287G |
probably damaging |
Het |
Ctbp2 |
A |
G |
7: 132,592,876 (GRCm39) |
V811A |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,408,402 (GRCm39) |
V1810A |
probably benign |
Het |
Dhx15 |
T |
G |
5: 52,328,767 (GRCm39) |
K287T |
probably damaging |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
C |
5: 73,221,840 (GRCm39) |
|
probably benign |
Het |
Gnpda2 |
A |
G |
5: 69,742,304 (GRCm39) |
|
probably benign |
Het |
Mto1 |
T |
C |
9: 78,355,583 (GRCm39) |
F2S |
possibly damaging |
Het |
Nlrp1a |
A |
G |
11: 71,013,768 (GRCm39) |
L494P |
probably benign |
Het |
Or2r2 |
T |
A |
6: 42,464,025 (GRCm39) |
Y34F |
probably damaging |
Het |
Paqr8 |
C |
A |
1: 21,005,687 (GRCm39) |
H280Q |
possibly damaging |
Het |
Perm1 |
A |
T |
4: 156,302,316 (GRCm39) |
M287L |
probably benign |
Het |
Piwil2 |
A |
G |
14: 70,647,843 (GRCm39) |
V323A |
probably damaging |
Het |
Pon3 |
A |
G |
6: 5,232,408 (GRCm39) |
V131A |
possibly damaging |
Het |
Prima1 |
C |
A |
12: 103,163,573 (GRCm39) |
A133S |
probably benign |
Het |
Prl7c1 |
A |
G |
13: 27,962,961 (GRCm39) |
L14P |
probably damaging |
Het |
Prr23a2 |
T |
A |
9: 98,739,041 (GRCm39) |
L133H |
possibly damaging |
Het |
Samd3 |
T |
C |
10: 26,120,396 (GRCm39) |
V157A |
possibly damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Tep1 |
A |
T |
14: 51,082,871 (GRCm39) |
|
probably null |
Het |
Tmem208 |
T |
C |
8: 106,061,475 (GRCm39) |
V167A |
probably benign |
Het |
Tnrc6a |
A |
T |
7: 122,770,136 (GRCm39) |
N642I |
probably benign |
Het |
Vps26a |
A |
G |
10: 62,316,325 (GRCm39) |
|
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTACACGGAGTCTGTCTGGAGAG -3'
(R):5'- GGCACAAAGTTTGACTGAAGCCTG -3'
Sequencing Primer
(F):5'- TGGTGATAGGTCAGCCCTC -3'
(R):5'- ATCAGGGTTACAGAGAGTCTCCTC -3'
|
Posted On |
2013-06-11 |