Incidental Mutation 'R2247:Zfp189'
ID 240889
Institutional Source Beutler Lab
Gene Symbol Zfp189
Ensembl Gene ENSMUSG00000039634
Gene Name zinc finger protein 189
Synonyms C430015I23Rik
MMRRC Submission 040247-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2247 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 49521176-49531517 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49530393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 499 (C499S)
Ref Sequence ENSEMBL: ENSMUSP00000103324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042964] [ENSMUST00000107696]
AlphaFold Q8BKP2
Predicted Effect possibly damaging
Transcript: ENSMUST00000042964
AA Change: C499S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036663
Gene: ENSMUSG00000039634
AA Change: C499S

DomainStartEndE-ValueType
KRAB 11 61 1.98e-4 SMART
ZnF_C2H2 130 152 1.58e-3 SMART
ZnF_C2H2 158 180 1.47e-3 SMART
ZnF_C2H2 186 208 1.84e-4 SMART
ZnF_C2H2 214 236 2.43e-4 SMART
ZnF_C2H2 242 264 2.61e-4 SMART
ZnF_C2H2 270 292 2.75e-3 SMART
ZnF_C2H2 298 320 1.56e-2 SMART
ZnF_C2H2 326 348 7.26e-3 SMART
ZnF_C2H2 354 376 1.72e-4 SMART
ZnF_C2H2 382 404 3.21e-4 SMART
ZnF_C2H2 438 460 3.95e-4 SMART
ZnF_C2H2 466 488 1.12e-3 SMART
ZnF_C2H2 494 516 1.18e-2 SMART
ZnF_C2H2 522 544 4.24e-4 SMART
ZnF_C2H2 550 572 2.79e-4 SMART
ZnF_C2H2 581 603 2.05e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107696
AA Change: C499S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103324
Gene: ENSMUSG00000039634
AA Change: C499S

DomainStartEndE-ValueType
KRAB 11 61 1.98e-4 SMART
ZnF_C2H2 130 152 1.58e-3 SMART
ZnF_C2H2 158 180 1.47e-3 SMART
ZnF_C2H2 186 208 1.84e-4 SMART
ZnF_C2H2 214 236 2.43e-4 SMART
ZnF_C2H2 242 264 2.61e-4 SMART
ZnF_C2H2 270 292 2.75e-3 SMART
ZnF_C2H2 298 320 1.56e-2 SMART
ZnF_C2H2 326 348 7.26e-3 SMART
ZnF_C2H2 354 376 1.72e-4 SMART
ZnF_C2H2 382 404 3.21e-4 SMART
ZnF_C2H2 438 460 3.95e-4 SMART
ZnF_C2H2 466 488 1.12e-3 SMART
ZnF_C2H2 494 516 1.18e-2 SMART
ZnF_C2H2 522 544 4.24e-4 SMART
ZnF_C2H2 550 572 2.79e-4 SMART
ZnF_C2H2 581 603 2.05e-2 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kruppel-like zinc finger proteins such as ZNF189 contain a conserved stretch of 7 amino acids that connects a variable number of DNA-binding zinc finger repeats of the cys(2)his(2) (C2H2) type (summarized by Odeberg et al., 1998 [PubMed 9653648]). Approximately 30% of human Kruppel-like zinc finger proteins contain an N-terminal Kruppel-associated box (KRAB) domain. The KRAB domain consists of approximately 75 amino acids that may be subdivided into an A box, which is present in every KRAB domain and is essential for transcriptional repression, and a B box, which is not always present.[supplied by OMIM, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,184,435 (GRCm39) E70G possibly damaging Het
Ash1l C A 3: 88,914,674 (GRCm39) P1768Q possibly damaging Het
Bicra C A 7: 15,723,159 (GRCm39) E119D probably benign Het
Brd2 A G 17: 34,333,389 (GRCm39) F421L probably damaging Het
Cspp1 A T 1: 10,136,685 (GRCm39) Q182L possibly damaging Het
Dnah7b A G 1: 46,316,223 (GRCm39) D3112G probably damaging Het
Dsc2 T A 18: 20,168,369 (GRCm39) I697F probably damaging Het
Ephb1 A T 9: 101,874,010 (GRCm39) S555T probably damaging Het
Fat4 A T 3: 38,946,198 (GRCm39) D1697V probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Impg2 A G 16: 56,088,627 (GRCm39) K1160R probably damaging Het
Jak2 T C 19: 29,261,036 (GRCm39) V344A probably benign Het
Kcnab3 A G 11: 69,221,016 (GRCm39) T168A probably damaging Het
Kctd18 A T 1: 58,006,801 (GRCm39) H16Q possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh11 A G 16: 14,095,423 (GRCm39) L113P probably damaging Het
Myh13 A T 11: 67,225,384 (GRCm39) I250F probably damaging Het
Nin T C 12: 70,101,319 (GRCm39) Y426C probably damaging Het
Or10ab4 C T 7: 107,654,989 (GRCm39) R267C probably benign Het
Or51ab3 T A 7: 103,201,097 (GRCm39) probably null Het
Pbrm1 A G 14: 30,796,850 (GRCm39) H897R probably damaging Het
Pgap4 T C 4: 49,586,209 (GRCm39) S320G probably benign Het
Plcl2 T C 17: 50,913,873 (GRCm39) V294A probably damaging Het
Psapl1 A G 5: 36,362,410 (GRCm39) E334G probably benign Het
Pwwp3a A G 10: 80,076,259 (GRCm39) Y483C probably damaging Het
Raly A G 2: 154,705,953 (GRCm39) H277R possibly damaging Het
Ranbp9 T C 13: 43,565,901 (GRCm39) K462E probably damaging Het
Rptn A G 3: 93,304,136 (GRCm39) T490A probably benign Het
Rtl1 T C 12: 109,561,413 (GRCm39) H142R possibly damaging Het
Scart2 G A 7: 139,829,042 (GRCm39) G234S probably null Het
Shisa3 G A 5: 67,768,666 (GRCm39) V189M probably benign Het
Slc25a36 A T 9: 96,982,191 (GRCm39) L28Q probably damaging Het
Slc38a8 A G 8: 120,212,389 (GRCm39) M318T probably benign Het
Slc4a11 A T 2: 130,529,721 (GRCm39) M328K probably benign Het
Sp2 A C 11: 96,852,844 (GRCm39) probably null Het
Sult2b1 A T 7: 45,384,734 (GRCm39) I114N probably damaging Het
Synrg T C 11: 83,900,202 (GRCm39) S803P probably damaging Het
Tenm4 T A 7: 96,555,216 (GRCm39) D2603E probably benign Het
Tnfaip8 ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 18: 50,179,912 (GRCm39) probably null Het
Zfp236 A G 18: 82,622,423 (GRCm39) F1621S possibly damaging Het
Other mutations in Zfp189
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02075:Zfp189 APN 4 49,522,445 (GRCm39) missense probably damaging 0.98
R1754:Zfp189 UTSW 4 49,529,342 (GRCm39) missense possibly damaging 0.87
R1848:Zfp189 UTSW 4 49,529,266 (GRCm39) missense probably benign 0.01
R1868:Zfp189 UTSW 4 49,529,283 (GRCm39) missense possibly damaging 0.90
R1903:Zfp189 UTSW 4 49,529,511 (GRCm39) nonsense probably null
R2889:Zfp189 UTSW 4 49,521,547 (GRCm39) start gained probably benign
R4389:Zfp189 UTSW 4 49,529,934 (GRCm39) missense probably damaging 1.00
R4659:Zfp189 UTSW 4 49,530,342 (GRCm39) missense probably benign 0.33
R4704:Zfp189 UTSW 4 49,530,081 (GRCm39) missense probably damaging 0.98
R4840:Zfp189 UTSW 4 49,529,984 (GRCm39) missense probably damaging 1.00
R4920:Zfp189 UTSW 4 49,529,302 (GRCm39) missense probably damaging 0.98
R5011:Zfp189 UTSW 4 49,530,438 (GRCm39) missense probably damaging 1.00
R5013:Zfp189 UTSW 4 49,530,438 (GRCm39) missense probably damaging 1.00
R5522:Zfp189 UTSW 4 49,529,739 (GRCm39) nonsense probably null
R5639:Zfp189 UTSW 4 49,530,153 (GRCm39) missense probably benign 0.01
R6814:Zfp189 UTSW 4 49,529,026 (GRCm39) missense probably damaging 0.99
R7372:Zfp189 UTSW 4 49,530,417 (GRCm39) missense possibly damaging 0.95
R7491:Zfp189 UTSW 4 49,521,569 (GRCm39) missense probably benign 0.06
R7680:Zfp189 UTSW 4 49,521,547 (GRCm39) start gained probably benign
R7800:Zfp189 UTSW 4 49,529,367 (GRCm39) missense possibly damaging 0.95
R8023:Zfp189 UTSW 4 49,530,312 (GRCm39) missense probably damaging 1.00
R8320:Zfp189 UTSW 4 49,530,180 (GRCm39) missense probably benign 0.00
R9225:Zfp189 UTSW 4 49,530,193 (GRCm39) missense probably benign
R9410:Zfp189 UTSW 4 49,529,942 (GRCm39) missense possibly damaging 0.95
R9611:Zfp189 UTSW 4 49,530,058 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CAGTCGGAGCTCATTCCTTATTG -3'
(R):5'- CTGACAAGTAAAGGCTTCGC -3'

Sequencing Primer
(F):5'- TGATCCAAACTGCAGTCTGG -3'
(R):5'- GCTGCGCTGTTGACTAAAAC -3'
Posted On 2014-10-15