Incidental Mutation 'R5784:Zfp422'
ID 447913
Institutional Source Beutler Lab
Gene Symbol Zfp422
Ensembl Gene ENSMUSG00000059878
Gene Name zinc finger protein 422
Synonyms KOX15, Krox-25-2, Krox25, Krox26, Krox-26, 2900028O21Rik
MMRRC Submission 043381-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5784 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 116600977-116605960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116603771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 76 (I76N)
Ref Sequence ENSEMBL: ENSMUSP00000108501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057540] [ENSMUST00000079749] [ENSMUST00000112880]
AlphaFold Q9ERU3
Predicted Effect probably damaging
Transcript: ENSMUST00000057540
AA Change: I76N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084926
Gene: ENSMUSG00000059878
AA Change: I76N

DomainStartEndE-ValueType
ZnF_C2H2 55 77 6.32e-3 SMART
ZnF_C2H2 83 105 6.32e-3 SMART
ZnF_C2H2 111 133 1.06e-4 SMART
ZnF_C2H2 139 161 2.53e-2 SMART
ZnF_C2H2 167 189 2.12e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000079749
AA Change: I76N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078685
Gene: ENSMUSG00000059878
AA Change: I76N

DomainStartEndE-ValueType
ZnF_C2H2 55 77 6.32e-3 SMART
ZnF_C2H2 83 105 6.32e-3 SMART
ZnF_C2H2 111 133 1.06e-4 SMART
ZnF_C2H2 139 161 2.53e-2 SMART
ZnF_C2H2 167 189 2.12e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112880
AA Change: I76N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108501
Gene: ENSMUSG00000059878
AA Change: I76N

DomainStartEndE-ValueType
ZnF_C2H2 55 77 6.32e-3 SMART
ZnF_C2H2 83 105 6.32e-3 SMART
ZnF_C2H2 111 133 1.06e-4 SMART
ZnF_C2H2 139 161 2.53e-2 SMART
ZnF_C2H2 167 189 2.12e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204559
Meta Mutation Damage Score 0.3316 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: This gene encodes a putative C2H2 zinc finger transcription factor that may play a role in tooth development. A pseudogene related to this gene is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,441 (GRCm39) R292G possibly damaging Het
4932416K20Rik T A 8: 105,524,261 (GRCm39) noncoding transcript Het
Aox3 A G 1: 58,192,658 (GRCm39) D544G probably benign Het
Atg2a C A 19: 6,311,535 (GRCm39) A1830D probably damaging Het
Casp1 T C 9: 5,299,337 (GRCm39) I22T probably damaging Het
Ccdc141 A C 2: 76,859,671 (GRCm39) L990W probably damaging Het
Cnbd2 A G 2: 156,180,577 (GRCm39) T125A probably damaging Het
Cnep1r1 T A 8: 88,857,354 (GRCm39) probably benign Het
Dhx38 G T 8: 110,286,245 (GRCm39) Y348* probably null Het
Dnah7c A T 1: 46,563,228 (GRCm39) I593L possibly damaging Het
Dpep3 T C 8: 106,705,375 (GRCm39) D125G probably benign Het
Eif1ad10 T A 12: 88,216,525 (GRCm39) N116Y probably damaging Het
Epb41l4b A C 4: 57,086,003 (GRCm39) S191A probably damaging Het
Etl4 A G 2: 20,811,016 (GRCm39) Y1033C possibly damaging Het
Fam193a T C 5: 34,623,567 (GRCm39) L32P probably damaging Het
Grin2c T C 11: 115,149,121 (GRCm39) E159G possibly damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdhd2 A T 18: 77,054,841 (GRCm39) D205V probably damaging Het
Helz T A 11: 107,561,307 (GRCm39) N774K unknown Het
Idh3b A G 2: 130,121,591 (GRCm39) V71A probably damaging Het
Lars1 T C 18: 42,352,964 (GRCm39) M818V probably benign Het
Ltbp2 A G 12: 84,915,513 (GRCm39) V162A probably damaging Het
Ltk G A 2: 119,584,840 (GRCm39) Q136* probably null Het
Mafb A T 2: 160,208,461 (GRCm39) C46S probably damaging Het
Map1s T C 8: 71,367,002 (GRCm39) S636P probably damaging Het
Map3k13 A G 16: 21,717,391 (GRCm39) K209E possibly damaging Het
Mppe1 T C 18: 67,361,098 (GRCm39) N220D probably benign Het
Mydgf T C 17: 56,485,254 (GRCm39) probably benign Het
Myh6 T C 14: 55,190,521 (GRCm39) K999E possibly damaging Het
Nemp1 T A 10: 127,513,067 (GRCm39) V34D possibly damaging Het
Npr2 A G 4: 43,632,801 (GRCm39) E206G probably benign Het
Or10x4 G A 1: 174,218,965 (GRCm39) C110Y probably damaging Het
Or13g1 T C 7: 85,955,743 (GRCm39) N193D probably damaging Het
Or9q2 A T 19: 13,772,710 (GRCm39) H88Q probably benign Het
Papln A G 12: 83,828,754 (GRCm39) N820S probably benign Het
Pcdh10 T G 3: 45,335,075 (GRCm39) F463C probably damaging Het
Pde7a A G 3: 19,319,009 (GRCm39) V12A probably benign Het
Radil G T 5: 142,473,268 (GRCm39) H804Q possibly damaging Het
Rbfox1 A T 16: 7,042,203 (GRCm39) D39V probably damaging Het
Rims2 T G 15: 39,399,383 (GRCm39) probably null Het
Rnf121 A G 7: 101,684,583 (GRCm39) F110S probably benign Het
Saxo2 C T 7: 82,284,082 (GRCm39) V259I probably benign Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc2a3 A T 6: 122,712,376 (GRCm39) probably null Het
Traf2 A T 2: 25,429,049 (GRCm39) V6E probably benign Het
Trim43c A T 9: 88,729,696 (GRCm39) N379I probably benign Het
Ubr4 C G 4: 139,152,529 (GRCm39) C1973W probably damaging Het
Unc13a G T 8: 72,108,310 (GRCm39) D514E possibly damaging Het
Wdr27 T A 17: 15,146,495 (GRCm39) T167S probably damaging Het
Zfp174 A T 16: 3,672,438 (GRCm39) E329V probably benign Het
Other mutations in Zfp422
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Zfp422 APN 6 116,603,919 (GRCm39) missense probably benign 0.00
IGL00659:Zfp422 APN 6 116,603,466 (GRCm39) nonsense probably null
IGL03199:Zfp422 APN 6 116,603,912 (GRCm39) missense probably benign 0.43
R0190:Zfp422 UTSW 6 116,603,572 (GRCm39) missense probably damaging 1.00
R1572:Zfp422 UTSW 6 116,603,745 (GRCm39) missense probably damaging 1.00
R1756:Zfp422 UTSW 6 116,603,385 (GRCm39) missense probably benign 0.00
R2290:Zfp422 UTSW 6 116,603,603 (GRCm39) missense possibly damaging 0.74
R3724:Zfp422 UTSW 6 116,603,340 (GRCm39) missense probably benign 0.00
R3932:Zfp422 UTSW 6 116,603,420 (GRCm39) missense probably benign 0.00
R3933:Zfp422 UTSW 6 116,603,420 (GRCm39) missense probably benign 0.00
R4700:Zfp422 UTSW 6 116,603,844 (GRCm39) missense possibly damaging 0.59
R4806:Zfp422 UTSW 6 116,603,623 (GRCm39) missense probably damaging 1.00
R4957:Zfp422 UTSW 6 116,603,904 (GRCm39) nonsense probably null
R6361:Zfp422 UTSW 6 116,603,781 (GRCm39) missense probably damaging 1.00
R8303:Zfp422 UTSW 6 116,603,612 (GRCm39) missense probably damaging 1.00
R9089:Zfp422 UTSW 6 116,604,086 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCATGTGCTGCCTCAGATGG -3'
(R):5'- CCTATGAGAGCAAGCGCAAG -3'

Sequencing Primer
(F):5'- TCATCACAGCAGTAGGGCTTC -3'
(R):5'- GAGCAAGCGCAAGACAGCC -3'
Posted On 2016-12-15