Incidental Mutation 'R9559:Zfp112'
ID |
720911 |
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 # |
R9559 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
23811739-23827377 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 23826108 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 696
(C696F)
|
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: C696F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005413 Gene: ENSMUSG00000052675 AA Change: C696F
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: C690F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113031 Gene: ENSMUSG00000052675 AA Change: C690F
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: C692F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
G |
A |
7: 120,021,019 (GRCm39) |
|
probably null |
Het |
Ahnak2 |
C |
T |
12: 112,749,782 (GRCm39) |
|
probably null |
Het |
Arhgef37 |
A |
T |
18: 61,640,267 (GRCm39) |
|
probably null |
Het |
Asb14 |
T |
C |
14: 26,637,052 (GRCm39) |
V598A |
possibly damaging |
Het |
Baz1b |
T |
A |
5: 135,216,532 (GRCm39) |
F10Y |
probably benign |
Het |
Bbc3 |
T |
C |
7: 16,047,660 (GRCm39) |
V128A |
probably benign |
Het |
C130073F10Rik |
T |
A |
4: 101,747,946 (GRCm39) |
Y76F |
possibly damaging |
Het |
Cdc42bpa |
G |
A |
1: 179,939,459 (GRCm39) |
|
probably null |
Het |
Cfh |
G |
T |
1: 140,030,275 (GRCm39) |
P884Q |
probably benign |
Het |
Cltc |
T |
C |
11: 86,613,086 (GRCm39) |
Y479C |
probably damaging |
Het |
Col18a1 |
C |
T |
10: 76,913,630 (GRCm39) |
G477E |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,786,360 (GRCm39) |
N530S |
unknown |
Het |
Csmd2 |
G |
T |
4: 128,438,561 (GRCm39) |
G3047C |
|
Het |
Cyb5r3 |
C |
A |
15: 83,043,123 (GRCm39) |
E190* |
probably null |
Het |
Dnah3 |
A |
T |
7: 119,650,951 (GRCm39) |
V983D |
probably benign |
Het |
Fcer1a |
T |
G |
1: 173,052,884 (GRCm39) |
Y104S |
possibly damaging |
Het |
Fer1l6 |
A |
G |
15: 58,429,759 (GRCm39) |
T169A |
possibly damaging |
Het |
Gimap9 |
A |
T |
6: 48,655,134 (GRCm39) |
K240N |
probably benign |
Het |
Gmeb1 |
A |
C |
4: 131,953,140 (GRCm39) |
V542G |
probably benign |
Het |
Grb10 |
C |
A |
11: 11,895,535 (GRCm39) |
R318L |
probably damaging |
Het |
Gucy1b1 |
T |
A |
3: 81,947,054 (GRCm39) |
D385V |
possibly damaging |
Het |
Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
Il18r1 |
T |
A |
1: 40,528,793 (GRCm39) |
I279K |
probably benign |
Het |
Il21r |
A |
G |
7: 125,232,027 (GRCm39) |
D485G |
probably damaging |
Het |
Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
Kdm4b |
T |
C |
17: 56,693,228 (GRCm39) |
L355P |
probably damaging |
Het |
Kif26a |
C |
T |
12: 112,142,004 (GRCm39) |
R753W |
probably damaging |
Het |
Krtcap2 |
C |
T |
3: 89,154,178 (GRCm39) |
T33I |
probably damaging |
Het |
Mettl17 |
G |
A |
14: 52,129,009 (GRCm39) |
|
probably null |
Het |
Mov10 |
A |
G |
3: 104,708,277 (GRCm39) |
F491L |
|
Het |
Mterf1a |
C |
T |
5: 3,941,807 (GRCm39) |
W20* |
probably null |
Het |
Nck2 |
T |
C |
1: 43,593,207 (GRCm39) |
V138A |
probably damaging |
Het |
Or2h2c |
C |
T |
17: 37,422,509 (GRCm39) |
V122M |
possibly damaging |
Het |
Or5ac24 |
C |
A |
16: 59,165,368 (GRCm39) |
G232V |
probably damaging |
Het |
Or5ak24 |
A |
C |
2: 85,260,753 (GRCm39) |
V140G |
possibly damaging |
Het |
Or7e173 |
A |
G |
9: 19,939,216 (GRCm39) |
V6A |
probably benign |
Het |
Osmr |
A |
G |
15: 6,882,027 (GRCm39) |
V39A |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,899,017 (GRCm39) |
H998R |
probably damaging |
Het |
Prb1a |
G |
A |
6: 132,184,388 (GRCm39) |
S415F |
unknown |
Het |
Prl3d1 |
C |
T |
13: 27,280,470 (GRCm39) |
T73I |
probably benign |
Het |
Scgn |
A |
G |
13: 24,137,921 (GRCm39) |
L250P |
probably damaging |
Het |
Scyl3 |
T |
C |
1: 163,779,773 (GRCm39) |
I580T |
probably benign |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
Shank2 |
A |
T |
7: 143,585,041 (GRCm39) |
Q14L |
probably benign |
Het |
Slc22a12 |
T |
A |
19: 6,587,686 (GRCm39) |
N423Y |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,473,056 (GRCm39) |
S951T |
probably benign |
Het |
Ubash3b |
G |
A |
9: 40,954,926 (GRCm39) |
P195S |
probably damaging |
Het |
Vmn1r61 |
A |
G |
7: 5,613,498 (GRCm39) |
F272S |
probably damaging |
Het |
Zbtb41 |
A |
T |
1: 139,358,053 (GRCm39) |
I454F |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTAACTGGAGTTCCACCC -3'
(R):5'- TGCAGGTCTCACATTTGAATGG -3'
Sequencing Primer
(F):5'- AGGGCTTCAGTCACAGATCAGTTC -3'
(R):5'- CAGGTCTCACATTTGAATGGTTTTC -3'
|
Posted On |
2022-08-09 |