Incidental Mutation 'R4849:Zfp398'
ID 373385
Institutional Source Beutler Lab
Gene Symbol Zfp398
Ensembl Gene ENSMUSG00000062519
Gene Name zinc finger protein 398
Synonyms 5730513I23Rik
MMRRC Submission 042461-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4849 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 47812595-47850471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47836446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 82 (I82T)
Ref Sequence ENSEMBL: ENSMUSP00000110245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079881] [ENSMUST00000114598]
AlphaFold Q8BV16
Predicted Effect probably benign
Transcript: ENSMUST00000079881
AA Change: I214T

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000078806
Gene: ENSMUSG00000062519
AA Change: I214T

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 possibly damaging
Transcript: ENSMUST00000114598
AA Change: I82T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110245
Gene: ENSMUSG00000062519
AA Change: I82T

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
Meta Mutation Damage Score 0.0588 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (90/92)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G T 7: 28,314,877 (GRCm39) R239S possibly damaging Het
Angptl1 C A 1: 156,684,735 (GRCm39) N301K probably benign Het
Ankrd26 T A 6: 118,509,257 (GRCm39) T603S probably benign Het
App T C 16: 84,853,322 (GRCm39) D252G unknown Het
Atxn3 A G 12: 101,900,627 (GRCm39) S219P probably benign Het
Birc6 T C 17: 74,954,383 (GRCm39) S3397P probably damaging Het
Bivm A G 1: 44,182,033 (GRCm39) I414V possibly damaging Het
Cemip A G 7: 83,584,945 (GRCm39) F1324L possibly damaging Het
Ckap5 T A 2: 91,445,616 (GRCm39) N1724K probably damaging Het
Corin T A 5: 72,460,178 (GRCm39) M1035L probably damaging Het
Ctnna3 T C 10: 64,709,094 (GRCm39) I711T probably damaging Het
Cts6 A T 13: 61,349,415 (GRCm39) W98R probably null Het
Dip2a A G 10: 76,130,367 (GRCm39) S580P probably damaging Het
Dock6 A G 9: 21,723,068 (GRCm39) probably null Het
Dusp15 T A 2: 152,791,002 (GRCm39) T32S probably damaging Het
Eogt T A 6: 97,093,016 (GRCm39) N387I probably damaging Het
Evx2 T C 2: 74,489,675 (GRCm39) D29G probably benign Het
Fat1 A G 8: 45,466,007 (GRCm39) N1422S probably benign Het
Fat2 T C 11: 55,201,463 (GRCm39) D537G probably damaging Het
Fat3 A C 9: 16,289,244 (GRCm39) I93S probably benign Het
Fem1b T C 9: 62,704,576 (GRCm39) E228G probably damaging Het
Fh1 A G 1: 175,448,072 (GRCm39) T25A probably benign Het
Fndc3b A G 3: 27,514,097 (GRCm39) W695R probably damaging Het
Gaa G A 11: 119,163,813 (GRCm39) V222I possibly damaging Het
Ggnbp1 T C 17: 27,251,947 (GRCm39) probably null Het
Gipc1 A G 8: 84,388,756 (GRCm39) Y154C probably benign Het
Gm5356 G T 8: 89,913,670 (GRCm39) noncoding transcript Het
Gnl1 T A 17: 36,298,603 (GRCm39) probably null Het
Gpcpd1 C T 2: 132,376,019 (GRCm39) G605R probably damaging Het
Guca1a T C 17: 47,705,662 (GRCm39) T177A possibly damaging Het
Ifit1bl1 T C 19: 34,572,076 (GRCm39) E127G probably damaging Het
Ift81 A T 5: 122,729,282 (GRCm39) I350N probably damaging Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Ing4 A G 6: 125,020,946 (GRCm39) R23G probably damaging Het
Ins1 A G 19: 52,253,384 (GRCm39) N108S probably damaging Het
Iqce A T 5: 140,679,214 (GRCm39) M72K possibly damaging Het
Itga3 C A 11: 94,967,097 (GRCm39) M22I probably benign Het
Kctd18 T C 1: 58,001,152 (GRCm39) E201G probably damaging Het
Klc1 A G 12: 111,748,129 (GRCm39) N344S probably damaging Het
Klrb1f A T 6: 129,033,347 (GRCm39) I192F probably damaging Het
Klrg2 A T 6: 38,607,214 (GRCm39) probably null Het
Kntc1 A C 5: 123,897,128 (GRCm39) I164L probably benign Het
Ltf T A 9: 110,855,058 (GRCm39) I357K probably benign Het
Mr1 T C 1: 155,006,436 (GRCm39) T304A probably benign Het
Msh6 C T 17: 88,290,947 (GRCm39) R178C possibly damaging Het
Mtch1 T C 17: 29,566,565 (GRCm39) D66G probably benign Het
Mtmr7 A G 8: 41,062,040 (GRCm39) V15A probably benign Het
Mtss2 A T 8: 111,452,875 (GRCm39) H40L possibly damaging Het
Mxra8 A G 4: 155,925,331 (GRCm39) probably benign Het
Myo3b T C 2: 70,075,253 (GRCm39) L535P probably damaging Het
Neurl2 T A 2: 164,674,739 (GRCm39) probably null Het
Nfia A C 4: 97,970,048 (GRCm39) T503P probably damaging Het
Noa1 T C 5: 77,454,179 (GRCm39) E487G possibly damaging Het
Nuak1 A T 10: 84,211,143 (GRCm39) V315D probably damaging Het
Nup205 A G 6: 35,207,505 (GRCm39) N1519S possibly damaging Het
Or10x1 T A 1: 174,196,966 (GRCm39) I161K probably damaging Het
Or1l4b T C 2: 37,036,266 (GRCm39) L14P probably damaging Het
Or1o1 T C 17: 37,716,589 (GRCm39) V50A probably benign Het
Or51f1e A G 7: 102,747,526 (GRCm39) I193V possibly damaging Het
Or6b13 G T 7: 139,782,340 (GRCm39) C114* probably null Het
Or9s18 G A 13: 65,300,493 (GRCm39) V152M possibly damaging Het
Peli1 T A 11: 21,098,528 (GRCm39) probably benign Het
Ppp6r1 A G 7: 4,646,206 (GRCm39) L175P probably damaging Het
Prkcd A G 14: 30,321,700 (GRCm39) L498P probably damaging Het
Prss30 T A 17: 24,191,769 (GRCm39) I251F probably benign Het
Psme3 A T 11: 101,207,907 (GRCm39) N21Y probably benign Het
Ptpra T C 2: 130,374,081 (GRCm39) Y271H probably damaging Het
Ralgapa1 T A 12: 55,745,588 (GRCm39) N1303Y probably damaging Het
Rims4 T C 2: 163,707,463 (GRCm39) I121V probably benign Het
Rnf123 A T 9: 107,933,290 (GRCm39) L1149Q probably damaging Het
Ryr3 T A 2: 112,738,807 (GRCm39) L593F probably damaging Het
Sec23b T C 2: 144,427,519 (GRCm39) F582S probably damaging Het
Sgpl1 T C 10: 60,940,297 (GRCm39) K335R probably benign Het
Sirpa C T 2: 129,451,163 (GRCm39) T141I probably damaging Het
Slit1 G T 19: 41,637,983 (GRCm39) A270E probably benign Het
Snap91 T C 9: 86,674,613 (GRCm39) T533A possibly damaging Het
Sphkap T G 1: 83,255,105 (GRCm39) E881D probably benign Het
Sptan1 C A 2: 29,901,054 (GRCm39) R1407S probably damaging Het
Tfdp1 A G 8: 13,423,895 (GRCm39) T353A probably benign Het
Ttyh1 A G 7: 4,125,533 (GRCm39) I62V possibly damaging Het
Vwde A T 6: 13,196,047 (GRCm39) V326D possibly damaging Het
Zp1 A G 19: 10,896,198 (GRCm39) Y176H possibly damaging Het
Other mutations in Zfp398
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Zfp398 APN 6 47,842,868 (GRCm39) missense probably benign
IGL01543:Zfp398 APN 6 47,842,997 (GRCm39) missense probably damaging 1.00
IGL01822:Zfp398 APN 6 47,843,205 (GRCm39) missense probably damaging 1.00
IGL02118:Zfp398 APN 6 47,835,879 (GRCm39) missense probably damaging 1.00
IGL02454:Zfp398 APN 6 47,817,301 (GRCm39) missense possibly damaging 0.93
IGL02725:Zfp398 APN 6 47,842,737 (GRCm39) missense probably benign 0.00
R0453:Zfp398 UTSW 6 47,842,782 (GRCm39) missense probably benign 0.01
R0635:Zfp398 UTSW 6 47,840,074 (GRCm39) missense probably damaging 1.00
R1759:Zfp398 UTSW 6 47,836,412 (GRCm39) missense possibly damaging 0.92
R2366:Zfp398 UTSW 6 47,840,143 (GRCm39) missense possibly damaging 0.93
R2696:Zfp398 UTSW 6 47,843,879 (GRCm39) makesense probably null
R4090:Zfp398 UTSW 6 47,843,159 (GRCm39) missense probably damaging 1.00
R4157:Zfp398 UTSW 6 47,812,843 (GRCm39) missense probably benign
R4610:Zfp398 UTSW 6 47,817,361 (GRCm39) missense probably damaging 1.00
R4784:Zfp398 UTSW 6 47,817,186 (GRCm39) missense probably benign
R5166:Zfp398 UTSW 6 47,842,838 (GRCm39) missense probably benign
R5289:Zfp398 UTSW 6 47,840,115 (GRCm39) missense probably benign
R5877:Zfp398 UTSW 6 47,817,638 (GRCm39) intron probably benign
R6326:Zfp398 UTSW 6 47,843,355 (GRCm39) missense possibly damaging 0.90
R6383:Zfp398 UTSW 6 47,843,529 (GRCm39) missense probably damaging 1.00
R6825:Zfp398 UTSW 6 47,843,265 (GRCm39) missense probably damaging 1.00
R6882:Zfp398 UTSW 6 47,843,016 (GRCm39) missense probably damaging 0.99
R7038:Zfp398 UTSW 6 47,843,243 (GRCm39) missense probably damaging 1.00
R7114:Zfp398 UTSW 6 47,842,910 (GRCm39) missense probably benign 0.00
R7386:Zfp398 UTSW 6 47,835,884 (GRCm39) missense probably benign 0.05
R7519:Zfp398 UTSW 6 47,836,407 (GRCm39) missense probably benign 0.00
R7525:Zfp398 UTSW 6 47,842,752 (GRCm39) missense probably benign
R7571:Zfp398 UTSW 6 47,843,666 (GRCm39) missense probably damaging 1.00
R8374:Zfp398 UTSW 6 47,836,468 (GRCm39) critical splice donor site probably null
R9055:Zfp398 UTSW 6 47,843,319 (GRCm39) missense possibly damaging 0.73
Z1176:Zfp398 UTSW 6 47,843,789 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AACATTCAGCTGCCTTGAGGG -3'
(R):5'- CTTCTCTAGCCAAGAAAAGGAGC -3'

Sequencing Primer
(F):5'- GCAGGTGTTGTCATACTCATTTATC -3'
(R):5'- GCTTAACAGAGTATATAACCAGGGC -3'
Posted On 2016-03-01