Incidental Mutation 'R8994:Zfp112'
| ID |
684593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp112
|
| Ensembl Gene |
ENSMUSG00000052675 |
| Gene Name |
zinc finger protein 112 |
| Synonyms |
|
| MMRRC Submission |
068825-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R8994 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23811739-23827377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 23825490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 490
(H490P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005413]
[ENSMUST00000120006]
[ENSMUST00000215113]
|
| AlphaFold |
Q0VAW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005413
AA Change: H490P
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: H490P
| 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: H484P
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: H484P
| 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: H486P
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0950 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
A |
14: 118,771,556 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Ank2 |
A |
T |
3: 126,723,471 (GRCm39) |
M952K |
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,662,076 (GRCm39) |
N369K |
probably benign |
Het |
| Cd300e |
A |
T |
11: 114,946,348 (GRCm39) |
Y38N |
probably damaging |
Het |
| Crat |
G |
T |
2: 30,297,887 (GRCm39) |
F212L |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 31,009,807 (GRCm39) |
S3733T |
probably benign |
Het |
| Fam135a |
C |
T |
1: 24,067,621 (GRCm39) |
D1083N |
probably damaging |
Het |
| Fam174a |
C |
A |
1: 95,241,689 (GRCm39) |
P50T |
possibly damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,849 (GRCm39) |
Y113N |
probably damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,341 (GRCm39) |
I204T |
possibly damaging |
Het |
| Frmd3 |
T |
C |
4: 74,088,985 (GRCm39) |
V394A |
probably benign |
Het |
| Garin5a |
G |
T |
7: 44,146,342 (GRCm39) |
R16L |
probably benign |
Het |
| Gpbp1 |
C |
A |
13: 111,603,384 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,441,629 (GRCm39) |
F1197Y |
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,851,328 (GRCm39) |
T526A |
probably benign |
Het |
| Hnrnpul2 |
T |
C |
19: 8,802,350 (GRCm39) |
C406R |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,210,695 (GRCm39) |
Q220R |
probably damaging |
Het |
| Igf2r |
T |
A |
17: 12,935,537 (GRCm39) |
Y651F |
possibly damaging |
Het |
| Kcng1 |
C |
T |
2: 168,110,768 (GRCm39) |
R132Q |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,983,457 (GRCm39) |
S680F |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,279,939 (GRCm39) |
D27G |
|
Het |
| Klk12 |
A |
T |
7: 43,421,485 (GRCm39) |
T180S |
probably damaging |
Het |
| Klk1b27 |
A |
G |
7: 43,705,136 (GRCm39) |
H101R |
probably damaging |
Het |
| Lrp6 |
C |
A |
6: 134,518,656 (GRCm39) |
E136D |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,424,620 (GRCm39) |
I657V |
probably benign |
Het |
| Med13l |
A |
C |
5: 118,866,226 (GRCm39) |
K427Q |
possibly damaging |
Het |
| Nol10 |
A |
T |
12: 17,402,717 (GRCm39) |
D63V |
probably damaging |
Het |
| Nudcd2 |
A |
G |
11: 40,624,862 (GRCm39) |
T24A |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,172,645 (GRCm39) |
|
probably null |
Het |
| Or10al7 |
T |
C |
17: 38,366,220 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Or10p1 |
A |
T |
10: 129,444,005 (GRCm39) |
L115H |
probably damaging |
Het |
| Or51af1 |
A |
T |
7: 103,141,800 (GRCm39) |
M95K |
probably benign |
Het |
| Or5p81 |
G |
A |
7: 108,267,169 (GRCm39) |
C182Y |
probably damaging |
Het |
| Or8c19-ps1 |
A |
T |
9: 38,220,581 (GRCm39) |
*163Y |
probably null |
Het |
| Piezo1 |
T |
C |
8: 123,209,829 (GRCm39) |
D2314G |
unknown |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,499 (GRCm39) |
F2669L |
probably damaging |
Het |
| Plpp4 |
A |
G |
7: 128,981,157 (GRCm39) |
R178G |
probably damaging |
Het |
| Ppp1r13l |
G |
T |
7: 19,102,695 (GRCm39) |
A37S |
possibly damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,499,417 (GRCm39) |
T62A |
probably benign |
Het |
| Ranbp2 |
C |
A |
10: 58,315,891 (GRCm39) |
Q2204K |
possibly damaging |
Het |
| Rbm48 |
T |
A |
5: 3,640,795 (GRCm39) |
M195L |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,205,941 (GRCm39) |
E884* |
probably null |
Het |
| Shank3 |
T |
A |
15: 89,417,416 (GRCm39) |
F4L |
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,114,984 (GRCm39) |
V405D |
probably damaging |
Het |
| Slitrk5 |
A |
C |
14: 111,918,227 (GRCm39) |
D617A |
probably benign |
Het |
| Sp140 |
T |
A |
1: 85,549,603 (GRCm39) |
|
probably null |
Het |
| Stk32a |
A |
G |
18: 43,443,542 (GRCm39) |
T240A |
probably benign |
Het |
| Timm21 |
T |
C |
18: 84,969,489 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,854,538 (GRCm39) |
S904G |
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,632,706 (GRCm39) |
C53R |
unknown |
Het |
| Wdr33 |
T |
C |
18: 31,960,459 (GRCm39) |
L41P |
probably benign |
Het |
| Zfp455 |
T |
C |
13: 67,355,478 (GRCm39) |
Y184H |
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 |
|
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 |
|
|
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'- TGAACATTCCACACAGAGTCCC -3'
(R):5'- GACTGAAGCCCTTCCCACAC -3'
Sequencing Primer
(F):5'- AGTCCCTGTGGAGGAGAC -3'
(R):5'- AGTTGAGGCCTTACTGAAGCC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation