Incidental Mutation 'IGL02118:Zfp398'
ID280485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp398
Ensembl Gene ENSMUSG00000062519
Gene Namezinc finger protein 398
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02118
Quality Score
Status
Chromosome6
Chromosomal Location47835661-47873537 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 47858945 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 14 (D14G)
Ref Sequence ENSEMBL: ENSMUSP00000110245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079881] [ENSMUST00000114598]
Predicted Effect probably damaging
Transcript: ENSMUST00000079881
AA Change: D146G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078806
Gene: ENSMUSG00000062519
AA Change: D146G

DomainStartEndE-ValueType
low complexity region 17 29 N/A INTRINSIC
Pfam:DUF3669 43 113 2.9e-10 PFAM
KRAB 143 203 1.38e-17 SMART
low complexity region 278 296 N/A INTRINSIC
ZnF_C2H2 344 365 6.31e1 SMART
ZnF_C2H2 399 421 3.58e-2 SMART
ZnF_C2H2 428 450 1.36e-2 SMART
ZnF_C2H2 456 478 1.69e-3 SMART
ZnF_C2H2 484 506 2.24e-3 SMART
ZnF_C2H2 512 534 6.78e-3 SMART
ZnF_C2H2 540 562 9.08e-4 SMART
ZnF_C2H2 568 591 5.14e-3 SMART
low complexity region 598 611 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114598
AA Change: D14G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110245
Gene: ENSMUSG00000062519
AA Change: D14G

DomainStartEndE-ValueType
KRAB 11 71 1.38e-17 SMART
low complexity region 146 164 N/A INTRINSIC
ZnF_C2H2 212 233 6.31e1 SMART
ZnF_C2H2 267 289 3.58e-2 SMART
ZnF_C2H2 296 318 1.36e-2 SMART
ZnF_C2H2 324 346 1.69e-3 SMART
ZnF_C2H2 352 374 2.24e-3 SMART
ZnF_C2H2 380 402 6.78e-3 SMART
ZnF_C2H2 408 430 9.08e-4 SMART
ZnF_C2H2 436 459 5.14e-3 SMART
low complexity region 466 479 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700057G04Rik A T 9: 92,350,958 K45* probably null Het
Acox3 T C 5: 35,601,521 Y359H possibly damaging Het
Actn2 A G 13: 12,276,547 probably benign Het
Actr8 T C 14: 29,982,771 probably null Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Aldob T A 4: 49,538,790 K243* probably null Het
Arfgap1 T C 2: 180,980,444 F274S possibly damaging Het
BC080695 A T 4: 143,571,156 T49S probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cask T C X: 13,559,395 I471V probably damaging Het
Cdc42ep4 C T 11: 113,729,116 G150S probably benign Het
Cpne1 T G 2: 156,077,643 D278A possibly damaging Het
Gcn1l1 A G 5: 115,610,879 E1856G probably damaging Het
Gm8362 A T 14: 6,771,516 V159E probably damaging Het
Golga5 A G 12: 102,495,752 I700V possibly damaging Het
Ifi206 T C 1: 173,481,768 T221A probably benign Het
Ighv2-6-8 T C 12: 113,796,417 K24R possibly damaging Het
Morc1 T C 16: 48,587,104 L661P probably benign Het
Per2 G A 1: 91,424,309 T825I probably damaging Het
Prkar2b A G 12: 31,975,964 V19A probably damaging Het
Psmb8 T A 17: 34,201,224 D263E probably damaging Het
Pum2 T C 12: 8,729,117 I563T probably benign Het
Retreg1 T G 15: 25,966,623 probably null Het
Rfx7 A G 9: 72,617,204 T559A probably benign Het
Rnf31 T G 14: 55,599,112 I801S probably damaging Het
Rom1 G T 19: 8,929,022 T51N possibly damaging Het
Sema6b G T 17: 56,132,821 P7T probably benign Het
Stpg1 A G 4: 135,508,064 probably benign Het
Sugct A T 13: 17,452,520 Y249* probably null Het
Tbc1d21 C T 9: 58,360,463 V317M probably benign Het
Tcea2 A G 2: 181,685,835 I125V probably benign Het
Ttc39b T A 4: 83,297,949 D19V probably damaging Het
Tti2 T A 8: 31,155,509 probably null Het
Usp32 A T 11: 85,032,177 Y142* probably null Het
Vill A G 9: 119,060,398 Y134C probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Zfp598 T C 17: 24,677,617 Y223H probably damaging Het
Znhit6 G T 3: 145,578,104 C43F probably damaging Het
Other mutations in Zfp398
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Zfp398 APN 6 47865934 missense probably benign
IGL01543:Zfp398 APN 6 47866063 missense probably damaging 1.00
IGL01822:Zfp398 APN 6 47866271 missense probably damaging 1.00
IGL02454:Zfp398 APN 6 47840367 missense possibly damaging 0.93
IGL02725:Zfp398 APN 6 47865803 missense probably benign 0.00
R0453:Zfp398 UTSW 6 47865848 missense probably benign 0.01
R0635:Zfp398 UTSW 6 47863140 missense probably damaging 1.00
R1759:Zfp398 UTSW 6 47859478 missense possibly damaging 0.92
R2366:Zfp398 UTSW 6 47863209 missense possibly damaging 0.93
R2696:Zfp398 UTSW 6 47866945 makesense probably null
R4090:Zfp398 UTSW 6 47866225 missense probably damaging 1.00
R4157:Zfp398 UTSW 6 47835909 missense probably benign
R4610:Zfp398 UTSW 6 47840427 missense probably damaging 1.00
R4784:Zfp398 UTSW 6 47840252 missense probably benign
R4849:Zfp398 UTSW 6 47859512 missense possibly damaging 0.79
R5166:Zfp398 UTSW 6 47865904 missense probably benign
R5289:Zfp398 UTSW 6 47863181 missense probably benign
R5877:Zfp398 UTSW 6 47840704 intron probably benign
R6326:Zfp398 UTSW 6 47866421 missense possibly damaging 0.90
R6383:Zfp398 UTSW 6 47866595 missense probably damaging 1.00
R6825:Zfp398 UTSW 6 47866331 missense probably damaging 1.00
R6882:Zfp398 UTSW 6 47866082 missense probably damaging 0.99
R7038:Zfp398 UTSW 6 47866309 missense probably damaging 1.00
R7114:Zfp398 UTSW 6 47865976 missense probably benign 0.00
Posted On2015-04-16