Incidental Mutation 'R5198:Zfp112'
ID 400469
Institutional Source Beutler Lab
Gene Symbol Zfp112
Ensembl Gene ENSMUSG00000052675
Gene Name zinc finger protein 112
Synonyms
MMRRC Submission 042774-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R5198 (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 23824281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 83 (V83A)
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: V87A

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: V87A

DomainStartEndE-ValueType
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: V81A

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: V81A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000215113
AA Change: V83A

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,571,726 (GRCm39) V1121A probably benign Het
Adamtsl3 A C 7: 82,261,006 (GRCm39) K1647Q possibly damaging Het
Adgrb1 A T 15: 74,415,550 (GRCm39) Q710L probably null Het
Alox12 T C 11: 70,145,243 (GRCm39) E110G probably damaging Het
Cep152 T A 2: 125,429,544 (GRCm39) M738L probably benign Het
Cma2 T C 14: 56,209,532 (GRCm39) V38A probably benign Het
Dlc1 C T 8: 37,405,552 (GRCm39) G79D probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dus3l A G 17: 57,076,574 (GRCm39) I585V probably benign Het
Etl4 A G 2: 20,718,198 (GRCm39) Y313C probably damaging Het
Fbxw15 C A 9: 109,387,242 (GRCm39) S251I probably benign Het
Gata4 G A 14: 63,437,900 (GRCm39) S417L probably benign Het
Gdpd5 T A 7: 99,087,515 (GRCm39) Y60N probably damaging Het
Gm17669 T C 18: 67,695,626 (GRCm39) M57T probably benign Het
Gpr39 A T 1: 125,605,173 (GRCm39) I34F probably benign Het
Iffo2 T A 4: 139,302,528 (GRCm39) D90E probably benign Het
Il17c A G 8: 123,149,108 (GRCm39) D84G possibly damaging Het
Itih3 T C 14: 30,634,606 (GRCm39) T134A probably benign Het
Lama2 G A 10: 27,222,999 (GRCm39) A429V probably damaging Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Mug1 G A 6: 121,851,521 (GRCm39) R806H probably damaging Het
Naaa G A 5: 92,415,904 (GRCm39) R65* probably null Het
Nacc2 C T 2: 25,950,346 (GRCm39) M463I probably benign Het
Nemf A G 12: 69,402,821 (GRCm39) S72P probably damaging Het
Nudt7 G A 8: 114,862,185 (GRCm39) probably null Het
Or4b1b T C 2: 90,126,737 (GRCm39) Q156R probably damaging Het
Or52z15 T C 7: 103,331,936 (GRCm39) S4P probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pacs1 T C 19: 5,189,325 (GRCm39) D757G probably benign Het
Pkd2 A C 5: 104,630,958 (GRCm39) I461L probably benign Het
Potegl G A 2: 23,102,473 (GRCm39) C121Y probably damaging Het
Pramel5 T G 4: 144,000,064 (GRCm39) probably benign Het
Ptgdr G C 14: 45,096,300 (GRCm39) F137L probably damaging Het
Pum1 T A 4: 130,507,190 (GRCm39) C1085* probably null Het
Rfx3 T C 19: 27,808,176 (GRCm39) D189G probably damaging Het
Rlf T A 4: 121,005,750 (GRCm39) K1077* probably null Het
Slc25a30 C A 14: 76,007,056 (GRCm39) D147Y probably benign Het
Smap2 T C 4: 120,873,984 (GRCm39) E22G possibly damaging Het
Szt2 T C 4: 118,245,519 (GRCm39) T1098A probably benign Het
Tbcc T C 17: 47,201,788 (GRCm39) F58S probably damaging Het
Tekt3 G A 11: 62,961,134 (GRCm39) R101H probably damaging Het
Vcan T A 13: 89,838,991 (GRCm39) E2184D probably damaging Het
Vkorc1 T C 7: 127,493,760 (GRCm39) E18G probably benign Het
Vmn1r68 T C 7: 10,261,723 (GRCm39) H125R probably benign Het
Vmn2r63 C A 7: 42,553,169 (GRCm39) V696L probably benign Het
Wdr59 G A 8: 112,208,620 (GRCm39) H421Y probably benign Het
Xkr7 T C 2: 152,896,873 (GRCm39) Y576H probably damaging Het
Zfp616 G A 11: 73,974,336 (GRCm39) V293I probably benign Het
Other mutations in Zfp112
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TAAGGTACCCAGAGAGCCTC -3'
(R):5'- CTTCAGAAATCTGCATGGGC -3'

Sequencing Primer
(F):5'- GTACCCAGAGAGCCTCAGTTTTG -3'
(R):5'- GCATTCCTGCCCACACCAG -3'
Posted On 2016-07-06