Incidental Mutation 'IGL01543:Zfp398'
ID90208
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? Probably non essential (E-score: 0.209) question?
Stock #IGL01543
Quality Score
Status
Chromosome6
Chromosomal Location47835661-47873537 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 47866063 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 350 (G350S)
Ref Sequence ENSEMBL: ENSMUSP00000078806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079881] [ENSMUST00000114598]
Predicted Effect probably damaging
Transcript: ENSMUST00000079881
AA Change: G350S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078806
Gene: ENSMUSG00000062519
AA Change: G350S

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: G218S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110245
Gene: ENSMUSG00000062519
AA Change: G218S

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 60,024,676 I204T probably benign Het
Abhd16a T C 17: 35,091,037 S69P probably damaging Het
Ampd1 C T 3: 103,095,713 T582I probably benign Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arid1a A T 4: 133,681,722 F1825I unknown Het
Asxl1 G A 2: 153,401,484 G1318D probably benign Het
B4galnt3 G A 6: 120,209,312 H807Y probably benign Het
Bpifb5 G T 2: 154,233,249 V366F possibly damaging Het
Caskin1 T C 17: 24,504,548 V770A probably benign Het
Ccdc152 G A 15: 3,298,124 T57I possibly damaging Het
Ccs T C 19: 4,834,241 E61G possibly damaging Het
Chsy3 G A 18: 59,410,400 W870* probably null Het
Col8a1 G A 16: 57,627,734 P471L unknown Het
Cyp2j6 A C 4: 96,525,924 V368G possibly damaging Het
Dnajc3 T C 14: 118,960,862 probably null Het
Dpep3 A T 8: 105,976,182 M316K probably damaging Het
Galntl5 A G 5: 25,195,351 E126G probably damaging Het
Gli1 T C 10: 127,332,478 N502S probably damaging Het
Hus1 A G 11: 9,000,082 L213P probably benign Het
Hypk A G 2: 121,457,295 probably null Het
Igkv4-59 T A 6: 69,438,361 Y70F probably damaging Het
Impdh1 A C 6: 29,203,378 V14G probably damaging Het
Kif26b A G 1: 178,678,961 M201V probably benign Het
Macf1 A G 4: 123,401,457 I5323T probably damaging Het
Mmp16 C T 4: 18,051,743 A244V probably damaging Het
Obscn T C 11: 59,042,117 D5619G probably benign Het
Olfr704 T C 7: 106,865,918 S313P probably benign Het
Pcdh7 T C 5: 57,720,765 V554A probably damaging Het
Piezo2 T C 18: 63,070,030 E1513G probably damaging Het
Rab6b A G 9: 103,162,638 D75G probably damaging Het
Ryr1 T C 7: 29,091,076 Y1435C probably damaging Het
Scarf2 A G 16: 17,802,549 N81S probably damaging Het
Six5 G A 7: 19,096,347 A300T possibly damaging Het
Skap2 T A 6: 52,012,395 N3Y possibly damaging Het
Skint6 A T 4: 112,899,963 S734T probably benign Het
Slc15a4 A C 5: 127,603,766 H396Q probably benign Het
Slco6c1 A G 1: 97,125,828 M116T possibly damaging Het
Slfn9 T C 11: 82,987,949 D118G probably benign Het
Trim3 T C 7: 105,613,313 D546G probably damaging Het
Trpa1 A G 1: 14,900,076 L362P probably damaging Het
Vasn A G 16: 4,649,892 T568A possibly damaging Het
Vwa5b2 A G 16: 20,595,716 M281V probably benign Het
Wwp2 A G 8: 107,483,368 E126G probably damaging Het
Other mutations in Zfp398
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Zfp398 APN 6 47865934 missense probably benign
IGL01822:Zfp398 APN 6 47866271 missense probably damaging 1.00
IGL02118:Zfp398 APN 6 47858945 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 On2013-12-03