Incidental Mutation 'R4373:Zfp112'
ID |
326063 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp112
|
Ensembl Gene |
ENSMUSG00000052675 |
Gene Name |
zinc finger protein 112 |
Synonyms |
|
MMRRC Submission |
041675-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R4373 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
23811739-23827377 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23824473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 147
(I147N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150734
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005413]
[ENSMUST00000120006]
[ENSMUST00000215113]
|
AlphaFold |
Q0VAW7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005413
AA Change: I151N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000005413 Gene: ENSMUSG00000052675 AA Change: I151N
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: I145N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113031 Gene: ENSMUSG00000052675 AA Change: I145N
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: I147N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.1080 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck5 |
A |
G |
15: 76,478,535 (GRCm39) |
|
probably benign |
Het |
Akr1b1 |
A |
C |
6: 34,281,202 (GRCm39) |
|
probably benign |
Het |
Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
Asns |
A |
T |
6: 7,677,978 (GRCm39) |
S367T |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,101,904 (GRCm39) |
N120S |
probably benign |
Het |
Bub1 |
A |
T |
2: 127,647,156 (GRCm39) |
|
probably benign |
Het |
Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
Ctsz |
T |
C |
2: 174,270,378 (GRCm39) |
E268G |
possibly damaging |
Het |
Dach1 |
G |
A |
14: 98,065,186 (GRCm39) |
T685I |
possibly damaging |
Het |
Dclre1a |
A |
G |
19: 56,533,874 (GRCm39) |
L240S |
probably benign |
Het |
Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
Esam |
C |
T |
9: 37,445,492 (GRCm39) |
T71I |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Gde1 |
A |
G |
7: 118,297,781 (GRCm39) |
L35P |
possibly damaging |
Het |
Gm10382 |
A |
G |
5: 125,466,647 (GRCm39) |
|
probably benign |
Het |
H2-M10.6 |
T |
C |
17: 37,123,958 (GRCm39) |
Y141H |
probably damaging |
Het |
Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,788,244 (GRCm39) |
K135E |
probably damaging |
Het |
Lrtm2 |
A |
G |
6: 119,297,489 (GRCm39) |
F184S |
probably damaging |
Het |
Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
Mtcl1 |
T |
A |
17: 66,687,074 (GRCm39) |
T611S |
probably benign |
Het |
Myc |
A |
T |
15: 61,861,513 (GRCm39) |
H373L |
probably damaging |
Het |
Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
Naaa |
T |
C |
5: 92,426,002 (GRCm39) |
|
probably benign |
Het |
Nfib |
A |
G |
4: 82,241,895 (GRCm39) |
V432A |
probably damaging |
Het |
Nmt1 |
A |
G |
11: 102,934,026 (GRCm39) |
K55R |
probably damaging |
Het |
Opa3 |
C |
T |
7: 18,978,699 (GRCm39) |
R55W |
probably damaging |
Het |
Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
Pld5 |
T |
A |
1: 175,967,583 (GRCm39) |
I91F |
probably damaging |
Het |
Plec |
A |
C |
15: 76,067,317 (GRCm39) |
S1350A |
probably damaging |
Het |
Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
Ppp1r16b |
T |
C |
2: 158,603,685 (GRCm39) |
Y537H |
probably damaging |
Het |
Prdm8 |
T |
C |
5: 98,334,367 (GRCm39) |
S645P |
probably damaging |
Het |
Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
Sanbr |
A |
T |
11: 23,565,265 (GRCm39) |
|
probably null |
Het |
Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
TTTTATATT |
TTT |
5: 113,405,989 (GRCm39) |
|
probably benign |
Het |
Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Stat4 |
T |
C |
1: 52,111,100 (GRCm39) |
|
probably null |
Het |
Tex9 |
A |
T |
9: 72,387,877 (GRCm39) |
|
probably null |
Het |
Tsku |
T |
C |
7: 98,002,038 (GRCm39) |
T98A |
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Vmn2r116 |
A |
C |
17: 23,620,395 (GRCm39) |
I710L |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,511,667 (GRCm39) |
I625F |
probably damaging |
Het |
Xpo4 |
G |
A |
14: 57,828,479 (GRCm39) |
Q794* |
probably null |
Het |
Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
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 |
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'- TGGAAGTAAACTCCCTTTGTCCC -3'
(R):5'- TAGCTCCTCATTGTCACTGTGG -3'
Sequencing Primer
(F):5'- GTCCCGAGGACCTCTCC -3'
(R):5'- CTGCCATACCTACAGAAGTGATTTC -3'
|
Posted On |
2015-07-06 |