Incidental Mutation '2107:Zfp112'
ID 147
Institutional Source Beutler Lab
Gene Symbol Zfp112
Ensembl Gene ENSMUSG00000052675
Gene Name zinc finger protein 112
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # 2107 of strain triaka
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 23811739-23827377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23826266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 745 (C745R)
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: C749R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005413
Gene: ENSMUSG00000052675
AA Change: C749R

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 damaging
Transcript: ENSMUST00000120006
AA Change: C743R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113031
Gene: ENSMUSG00000052675
AA Change: C743R

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 probably damaging
Transcript: ENSMUST00000215113
AA Change: C745R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4794 question?
Coding Region Coverage
  • 1x: 86.3%
  • 3x: 63.7%
Validation Efficiency 80% (79/99)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid T A 11: 117,726,387 (GRCm39) N198K probably damaging Homo
Fam184a T C 10: 53,517,153 (GRCm39) E374G probably damaging Homo
Mypn C T 10: 63,039,530 (GRCm39) probably benign Homo
Nme7 T A 1: 164,172,922 (GRCm39) I211N possibly damaging Het
Tmod4 G A 3: 95,037,479 (GRCm39) probably null Homo
Wfs1 C T 5: 37,124,617 (GRCm39) R758H probably damaging 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
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
R9559:Zfp112 UTSW 7 23,826,108 (GRCm39) missense probably damaging 1.00
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to C transition at position 2396 of the Zfp112 transcript in exon 5 of 5 total exons.  Three transcripts of the Zfp112 gene are displayed on Ensembl. The mutated nucleotide causes a cysteine to arginine substitution at amino acid 749 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Zfp112 gene encodes an 880 amino acid protein that belongs to the Krüppel C2H2 –type zinc finger protein family. ZFP112 may be involved in transcriptional regulation. The protein contains 12 zinc fingers and one N-terminal KRAB (Krüppel associated box) domain (Uniprot Q0VAW7).
 
The C749R change occurs in the ninth zinc finger, and affects one of the zinc-binding cysteines. It is predicted to be probably damaging by the PolyPhen program.
Posted On 2010-03-19