Incidental Mutation 'IGL00593:Zfp422'
ID 10404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp422
Ensembl Gene ENSMUSG00000059878
Gene Name zinc finger protein 422
Synonyms KOX15, Krox-25-2, Krox25, Krox26, Krox-26, 2900028O21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00593
Quality Score
Status
Chromosome 6
Chromosomal Location 116600977-116605960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 116603919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 27 (A27S)
Ref Sequence ENSEMBL: ENSMUSP00000108501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057540] [ENSMUST00000079749] [ENSMUST00000112880]
AlphaFold Q9ERU3
Predicted Effect probably benign
Transcript: ENSMUST00000057540
AA Change: A27S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000084926
Gene: ENSMUSG00000059878
AA Change: A27S

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 benign
Transcript: ENSMUST00000079749
AA Change: A27S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000078685
Gene: ENSMUSG00000059878
AA Change: A27S

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 benign
Transcript: ENSMUST00000112880
AA Change: A27S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000108501
Gene: ENSMUSG00000059878
AA Change: A27S

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
Coding Region Coverage
Validation Efficiency
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr2 A T X: 21,352,719 (GRCm39) K118* probably null Het
Akap14 A T X: 36,414,484 (GRCm39) H525Q possibly damaging Het
Crb1 T C 1: 139,250,983 (GRCm39) I323V probably benign Het
H60b T C 10: 22,162,962 (GRCm39) I179T possibly damaging Het
Krt34 A G 11: 99,929,520 (GRCm39) probably benign Het
Mroh9 T C 1: 162,873,350 (GRCm39) N541D possibly damaging Het
Plxnb1 A T 9: 108,942,936 (GRCm39) I1841F probably benign Het
Ppp4r3b A G 11: 29,147,205 (GRCm39) D3G possibly damaging Het
Rp1 T C 1: 4,415,626 (GRCm39) T1829A possibly damaging Het
Ssx2ip T C 3: 146,142,307 (GRCm39) F468L probably damaging Het
Togaram1 A G 12: 65,053,173 (GRCm39) E1301G probably damaging Het
Tpd52l2 A T 2: 181,141,689 (GRCm39) D24V probably damaging Het
Trmo A G 4: 46,382,490 (GRCm39) V209A probably benign Het
Zfp141 A T 7: 42,124,731 (GRCm39) C580* probably null Het
Zfp786 A T 6: 47,796,605 (GRCm39) *778R probably null Het
Other mutations in Zfp422
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5784:Zfp422 UTSW 6 116,603,771 (GRCm39) missense probably damaging 1.00
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
Posted On 2012-12-06