Incidental Mutation 'R8231:Zfp131'
ID 637159
Institutional Source Beutler Lab
Gene Symbol Zfp131
Ensembl Gene ENSMUSG00000094870
Gene Name zinc finger protein 131
Synonyms 2610109I01Rik, Znf131
MMRRC Submission 067663-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R8231 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 120226723-120252425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120237348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 337 (F337L)
Ref Sequence ENSEMBL: ENSMUSP00000136867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177916] [ENSMUST00000178271]
AlphaFold Q8K3J5
Predicted Effect probably damaging
Transcript: ENSMUST00000177916
AA Change: F337L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136867
Gene: ENSMUSG00000094870
AA Change: F337L

DomainStartEndE-ValueType
BTB 34 129 4.83e-23 SMART
low complexity region 205 216 N/A INTRINSIC
ZnF_C2H2 261 283 6.23e-2 SMART
ZnF_C2H2 288 311 2.02e-1 SMART
ZnF_C2H2 328 350 4.11e-2 SMART
ZnF_C2H2 356 376 1.09e2 SMART
ZnF_C2H2 392 414 8.47e-4 SMART
ZnF_C2H2 420 443 1.14e0 SMART
low complexity region 532 548 N/A INTRINSIC
low complexity region 581 593 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178271
AA Change: F303L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136019
Gene: ENSMUSG00000094870
AA Change: F303L

DomainStartEndE-ValueType
BTB 34 129 4.83e-23 SMART
low complexity region 205 216 N/A INTRINSIC
ZnF_C2H2 254 277 2.02e-1 SMART
ZnF_C2H2 294 316 4.11e-2 SMART
ZnF_C2H2 322 342 1.09e2 SMART
ZnF_C2H2 358 380 8.47e-4 SMART
ZnF_C2H2 386 409 1.14e0 SMART
low complexity region 498 514 N/A INTRINSIC
low complexity region 547 559 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the BTB/POZ family of transcription factors. This protein has been found to act as a transcriptional activator and may regulate estrogen receptor signaling. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C T 17: 85,000,213 (GRCm39) R258C probably damaging Het
Acsf2 C G 11: 94,452,188 (GRCm39) E451D probably benign Het
Adam34 A T 8: 44,104,659 (GRCm39) S329T probably benign Het
Adamts16 A G 13: 70,925,599 (GRCm39) I535T probably damaging Het
Atp6v0d2 A G 4: 19,881,451 (GRCm39) F214S probably damaging Het
Btg4 A G 9: 51,027,868 (GRCm39) T13A possibly damaging Het
Ccdc121 T A 5: 31,643,551 (GRCm39) C94S probably benign Het
Cplane1 T C 15: 8,248,511 (GRCm39) Y1687H probably benign Het
Csmd1 A T 8: 16,747,939 (GRCm39) S271T possibly damaging Het
Cul9 T C 17: 46,831,427 (GRCm39) T1596A probably damaging Het
Cyp2a4 G A 7: 26,012,362 (GRCm39) D382N probably benign Het
Dbh C T 2: 27,060,555 (GRCm39) R244C probably benign Het
Dennd11 A T 6: 40,395,546 (GRCm39) H187Q probably benign Het
Dnajc2 T C 5: 21,966,689 (GRCm39) K426R probably benign Het
Dock4 T A 12: 40,752,950 (GRCm39) M428K possibly damaging Het
Duox2 A T 2: 122,120,044 (GRCm39) M822K possibly damaging Het
Golga5 T C 12: 102,438,558 (GRCm39) V91A probably benign Het
Gpatch2l T C 12: 86,290,963 (GRCm39) S49P probably damaging Het
Ints7 T A 1: 191,328,465 (GRCm39) L246* probably null Het
Kntc1 A G 5: 123,920,959 (GRCm39) T926A possibly damaging Het
Kyat1 T C 2: 30,081,978 (GRCm39) T54A probably benign Het
Megf6 C G 4: 154,336,975 (GRCm39) C359W probably damaging Het
Mlh3 A G 12: 85,307,572 (GRCm39) probably null Het
Neb C A 2: 52,125,491 (GRCm39) probably null Het
Nyap2 A T 1: 81,169,846 (GRCm39) Q201L probably benign Het
Pibf1 T G 14: 99,423,997 (GRCm39) H523Q probably benign Het
Piezo1 A G 8: 123,232,836 (GRCm39) S133P Het
Pnma8b T C 7: 16,680,515 (GRCm39) C500R probably benign Het
Ptpra A G 2: 130,379,523 (GRCm39) N359S probably damaging Het
Rce1 A T 19: 4,675,078 (GRCm39) I112N probably damaging Het
Rmdn1 T C 4: 19,586,853 (GRCm39) Y104H probably benign Het
Snx22 A T 9: 65,975,480 (GRCm39) D96E probably benign Het
Sox5 G T 6: 143,974,014 (GRCm39) Q245K probably damaging Het
Stat6 A G 10: 127,482,842 (GRCm39) D21G possibly damaging Het
Tbc1d15 T C 10: 115,065,045 (GRCm39) Y180C probably damaging Het
Tdrd6 T C 17: 43,933,026 (GRCm39) T2058A probably damaging Het
Thbs4 A T 13: 92,911,352 (GRCm39) V277E probably benign Het
Tmem255b A G 8: 13,504,225 (GRCm39) D139G probably damaging Het
Ttc27 C A 17: 75,024,959 (GRCm39) T18K probably benign Het
Other mutations in Zfp131
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1444:Zfp131 UTSW 13 120,251,784 (GRCm39) missense probably damaging 0.99
R1604:Zfp131 UTSW 13 120,230,316 (GRCm39) missense probably damaging 1.00
R1605:Zfp131 UTSW 13 120,230,316 (GRCm39) missense probably damaging 1.00
R1712:Zfp131 UTSW 13 120,228,079 (GRCm39) missense probably benign 0.00
R1899:Zfp131 UTSW 13 120,228,561 (GRCm39) missense probably damaging 0.99
R2207:Zfp131 UTSW 13 120,237,348 (GRCm39) missense probably damaging 1.00
R4227:Zfp131 UTSW 13 120,228,282 (GRCm39) missense probably damaging 1.00
R4342:Zfp131 UTSW 13 120,237,554 (GRCm39) missense probably damaging 0.99
R4852:Zfp131 UTSW 13 120,250,394 (GRCm39) critical splice donor site probably null
R4876:Zfp131 UTSW 13 120,250,491 (GRCm39) missense possibly damaging 0.88
R4990:Zfp131 UTSW 13 120,244,449 (GRCm39) missense probably damaging 1.00
R5979:Zfp131 UTSW 13 120,237,982 (GRCm39) missense probably benign 0.03
R6090:Zfp131 UTSW 13 120,237,532 (GRCm39) missense probably damaging 0.99
R6269:Zfp131 UTSW 13 120,227,941 (GRCm39) missense possibly damaging 0.86
R6791:Zfp131 UTSW 13 120,228,129 (GRCm39) missense probably damaging 0.98
R7147:Zfp131 UTSW 13 120,228,079 (GRCm39) missense probably benign 0.00
R7217:Zfp131 UTSW 13 120,237,377 (GRCm39) missense probably damaging 0.99
R7809:Zfp131 UTSW 13 120,250,446 (GRCm39) missense probably damaging 1.00
R7815:Zfp131 UTSW 13 120,237,516 (GRCm39) missense probably damaging 0.99
R8308:Zfp131 UTSW 13 120,244,440 (GRCm39) missense possibly damaging 0.74
R8890:Zfp131 UTSW 13 120,244,338 (GRCm39) missense probably damaging 1.00
R9485:Zfp131 UTSW 13 120,251,885 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GAGGATTATAAATGTATGCCCCTTC -3'
(R):5'- GTTCCATTGTGAGAAATGTAACCG -3'

Sequencing Primer
(F):5'- GGTTGACACTGATTTCCATTTAAAGC -3'
(R):5'- TTTAAGGAACACATGAAATCACACTC -3'
Posted On 2020-07-13