Incidental Mutation 'IGL01822:Zfp398'
ID154570
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 #IGL01822
Quality Score
Status
Chromosome6
Chromosomal Location47835661-47873537 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 47866271 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 287 (R287Q)
Ref Sequence ENSEMBL: ENSMUSP00000110245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079881] [ENSMUST00000114598]
Predicted Effect probably damaging
Transcript: ENSMUST00000079881
AA Change: R419Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078806
Gene: ENSMUSG00000062519
AA Change: R419Q

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: R287Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110245
Gene: ENSMUSG00000062519
AA Change: R287Q

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cald1 A T 6: 34,753,572 T269S probably damaging Het
Cntnap5c T A 17: 58,055,705 I351N probably damaging Het
Dhcr7 T A 7: 143,845,499 I296N probably damaging Het
Dnah17 A G 11: 118,081,993 F2038S probably damaging Het
Dsel A G 1: 111,861,896 L303P probably damaging Het
Fabp12 G A 3: 10,246,022 R127* probably null Het
Fgf12 A T 16: 28,189,599 S150T possibly damaging Het
Fkbp15 A G 4: 62,352,504 M32T probably benign Het
Lrrc66 G A 5: 73,629,968 T13I probably benign Het
Mmgt2 T C 11: 62,665,006 V60A possibly damaging Het
Neb G T 2: 52,258,746 S2596R possibly damaging Het
Nfkbib T C 7: 28,761,709 D171G probably benign Het
Oas1a T C 5: 120,899,214 E250G probably benign Het
Olfr1197 A T 2: 88,728,792 I269N probably benign Het
Olfr134 C A 17: 38,175,448 D121E probably damaging Het
Rnf182 T C 13: 43,668,032 C20R probably damaging Het
Scn3a T C 2: 65,495,264 K970E probably damaging Het
Slc30a2 T A 4: 134,348,637 Y192N probably damaging Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Vmn2r100 T A 17: 19,504,838 C10S probably null Het
Vmn2r61 A T 7: 42,300,706 H850L probably benign Het
Vmn2r87 T C 10: 130,472,122 Y749C probably damaging Het
Wnt5b A T 6: 119,433,472 C336S 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
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
R7386:Zfp398 UTSW 6 47858950 missense probably benign 0.05
R7519:Zfp398 UTSW 6 47859473 missense probably benign 0.00
R7525:Zfp398 UTSW 6 47865818 missense probably benign
R7571:Zfp398 UTSW 6 47866732 missense probably damaging 1.00
Z1176:Zfp398 UTSW 6 47866855 missense probably benign
Posted On2014-02-04