Incidental Mutation 'R6882:Zfp398'
ID 536722
Institutional Source Beutler Lab
Gene Symbol Zfp398
Ensembl Gene ENSMUSG00000062519
Gene Name zinc finger protein 398
Synonyms 5730513I23Rik
MMRRC Submission 044977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6882 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 47812595-47850471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47843016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 224 (D224G)
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: D356G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000078806
Gene: ENSMUSG00000062519
AA Change: D356G

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: D224G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110245
Gene: ENSMUSG00000062519
AA Change: D224G

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 0.1301 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 A G 12: 71,003,125 (GRCm39) E238G probably benign Het
Adgrf5 T A 17: 43,761,271 (GRCm39) C989S probably damaging Het
Ank2 T G 3: 126,739,406 (GRCm39) probably benign Het
C2cd6 T C 1: 59,105,318 (GRCm39) D320G probably damaging Het
Cacnb2 T A 2: 14,829,110 (GRCm39) I15N probably benign Het
Cage1 T A 13: 38,206,534 (GRCm39) Q437L probably damaging Het
Capn15 G T 17: 26,179,153 (GRCm39) probably null Het
Cbll1 A G 12: 31,537,484 (GRCm39) Y424H probably damaging Het
Ccdc166 T C 15: 75,853,466 (GRCm39) H167R possibly damaging Het
Ccdc7a T C 8: 129,523,809 (GRCm39) probably benign Het
Cdkl4 T A 17: 80,851,175 (GRCm39) T176S probably damaging Het
Cnot1 T C 8: 96,447,054 (GRCm39) E2321G possibly damaging Het
Col6a5 G A 9: 105,817,469 (GRCm39) Q281* probably null Het
Csmd2 A G 4: 128,343,062 (GRCm39) T1485A probably benign Het
Dmxl1 A G 18: 49,976,851 (GRCm39) probably null Het
Dnah3 A G 7: 119,570,407 (GRCm39) I2271T possibly damaging Het
Elavl2 A G 4: 91,196,952 (GRCm39) I42T probably damaging Het
Epn3 C T 11: 94,382,186 (GRCm39) A568T probably benign Het
Etv3 T C 3: 87,436,577 (GRCm39) F111L probably damaging Het
Fnip1 A G 11: 54,400,724 (GRCm39) E1041G probably damaging Het
Fosl2 T C 5: 32,310,208 (GRCm39) V219A possibly damaging Het
Foxj2 T A 6: 122,805,464 (GRCm39) probably null Het
Gm8947 G A 1: 151,068,880 (GRCm39) A238T possibly damaging Het
Golgb1 C A 16: 36,734,352 (GRCm39) Q1200K probably benign Het
Igkv4-55 A G 6: 69,584,289 (GRCm39) Y108H probably damaging Het
Iglc1 G A 16: 18,880,599 (GRCm39) probably benign Het
Ints13 G T 6: 146,464,939 (GRCm39) R221S probably null Het
Ipo11 T C 13: 107,037,190 (GRCm39) probably null Het
Kcnn2 A T 18: 45,692,505 (GRCm39) H27L possibly damaging Het
Kcns3 C T 12: 11,142,049 (GRCm39) V217M probably benign Het
Klra9 A T 6: 130,155,985 (GRCm39) C257S probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lmbr1l A G 15: 98,805,467 (GRCm39) F345L probably damaging Het
Lrrc18 A C 14: 32,730,646 (GRCm39) I62L probably benign Het
Mr1 A G 1: 155,008,199 (GRCm39) W259R possibly damaging Het
Myo15a G A 11: 60,414,832 (GRCm39) R3325H probably damaging Het
Nid2 A G 14: 19,839,775 (GRCm39) D788G probably damaging Het
Or2y1c A T 11: 49,361,290 (GRCm39) Y104F probably benign Het
Or5an10 C A 19: 12,275,934 (GRCm39) Q187H probably damaging Het
Or5h24 A T 16: 58,918,990 (GRCm39) C122S unknown Het
Or6d12 T C 6: 116,493,395 (GRCm39) V219A probably benign Het
Pbld1 T C 10: 62,897,241 (GRCm39) L11P probably benign Het
Pcnt T C 10: 76,263,662 (GRCm39) E434G probably benign Het
Prg4 G A 1: 150,329,246 (GRCm39) T174M probably damaging Het
Prkdc G A 16: 15,601,127 (GRCm39) probably null Het
Prkdc T A 16: 15,626,020 (GRCm39) S3349T probably benign Het
Prpf38a C A 4: 108,427,365 (GRCm39) E199D probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Rhbg T A 3: 88,152,527 (GRCm39) H339L probably damaging Het
Rnf183 A G 4: 62,346,261 (GRCm39) I179T probably benign Het
Sh3bp5l G T 11: 58,222,525 (GRCm39) A7S probably benign Het
Slc12a3 T A 8: 95,092,546 (GRCm39) I989N possibly damaging Het
Sycp3 C T 10: 88,308,791 (GRCm39) R246* probably null Het
Tmprss11b T A 5: 86,819,530 (GRCm39) probably null Het
Tmx4 T C 2: 134,485,922 (GRCm39) T2A possibly damaging Het
Tnfsf10 T C 3: 27,380,182 (GRCm39) L82S possibly damaging Het
Tnni3k T A 3: 154,663,357 (GRCm39) I332F possibly damaging Het
Ttn T A 2: 76,644,539 (GRCm39) T13072S probably benign Het
Vmn2r1 A T 3: 63,997,529 (GRCm39) Y395F possibly damaging Het
Zbbx A G 3: 74,979,019 (GRCm39) V476A probably benign Het
Zfp341 T C 2: 154,479,943 (GRCm39) C465R probably damaging Het
Zfp407 G T 18: 84,361,194 (GRCm39) probably null Het
Zfp52 T C 17: 21,775,309 (GRCm39) M1T probably null 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
R4849:Zfp398 UTSW 6 47,836,446 (GRCm39) missense possibly damaging 0.79
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
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'- CAGCCAAGGATGCATTTTCAG -3'
(R):5'- GTGCTGTTGTGTACCCGAAG -3'

Sequencing Primer
(F):5'- GCCAAGGATGCATTTTCAGATATAGC -3'
(R):5'- CGAAGGTGGTATGTGAGTCG -3'
Posted On 2018-10-18