Incidental Mutation 'R6791:Zfp131'
ID 532609
Institutional Source Beutler Lab
Gene Symbol Zfp131
Ensembl Gene ENSMUSG00000094870
Gene Name zinc finger protein 131
Synonyms 2610109I01Rik, Znf131
MMRRC Submission 044904-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R6791 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 120226723-120252425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120228129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 506 (V506A)
Ref Sequence ENSEMBL: ENSMUSP00000152941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177916] [ENSMUST00000178271] [ENSMUST00000223722] [ENSMUST00000223813]
AlphaFold Q8K3J5
Predicted Effect possibly damaging
Transcript: ENSMUST00000177916
AA Change: V540A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136867
Gene: ENSMUSG00000094870
AA Change: V540A

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: V506A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136019
Gene: ENSMUSG00000094870
AA Change: V506A

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000223722
AA Change: V540A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000223813
AA Change: V506A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.1723 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,504 (GRCm39) C3526S probably damaging Het
Adgrf2 T C 17: 43,021,774 (GRCm39) N350S probably benign Het
Atp12a G A 14: 56,624,439 (GRCm39) probably null Het
AW551984 T G 9: 39,511,955 (GRCm39) S19R probably damaging Het
Bet1l A G 7: 140,434,418 (GRCm39) I77T possibly damaging Het
Cfap206 T C 4: 34,711,414 (GRCm39) I494M possibly damaging Het
Cog3 A G 14: 75,968,118 (GRCm39) I415T probably damaging Het
Col15a1 C T 4: 47,300,518 (GRCm39) P1060S probably damaging Het
Ctrb1 A G 8: 112,415,981 (GRCm39) V71A possibly damaging Het
Ddhd2 T C 8: 26,242,242 (GRCm39) Y211C probably benign Het
Fbxl20 T C 11: 98,000,336 (GRCm39) T128A probably benign Het
Fdps A G 3: 89,002,659 (GRCm39) probably null Het
Gm4302 TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 10: 100,177,361 (GRCm39) probably benign Het
Gm8369 T A 19: 11,489,200 (GRCm39) probably benign Het
Grm6 T C 11: 50,750,601 (GRCm39) V588A possibly damaging Het
Heatr6 T C 11: 83,649,167 (GRCm39) L174S probably benign Het
Kif1a G A 1: 92,993,859 (GRCm39) P364S probably damaging Het
Klk7 A G 7: 43,462,684 (GRCm39) D163G probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Lamb3 T C 1: 193,017,169 (GRCm39) S787P possibly damaging Het
Lrp5 C T 19: 3,650,753 (GRCm39) C1227Y probably damaging Het
Mgst1 G A 6: 138,118,805 (GRCm39) probably benign Het
Mllt6 T C 11: 97,571,428 (GRCm39) S1022P probably damaging Het
Mtmr2 T C 9: 13,716,678 (GRCm39) I521T probably benign Het
Naalad2 T C 9: 18,296,426 (GRCm39) T75A possibly damaging Het
Nadsyn1 A T 7: 143,372,845 (GRCm39) I83N probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Neurl4 T A 11: 69,799,336 (GRCm39) L904Q probably damaging Het
Ngp A C 9: 110,249,017 (GRCm39) I30L probably benign Het
Or5af1 T C 11: 58,722,903 (GRCm39) Y308H probably benign Het
Or6c5c G A 10: 129,299,023 (GRCm39) M159I probably benign Het
Orm2 A T 4: 63,282,196 (GRCm39) M125L probably benign Het
Pax2 A T 19: 44,777,260 (GRCm39) D151V possibly damaging Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Ppargc1b C A 18: 61,440,747 (GRCm39) G724W probably damaging Het
Pramel11 T A 4: 143,622,252 (GRCm39) I368F probably benign Het
Prss16 A T 13: 22,190,237 (GRCm39) V307E probably damaging Het
Prss54 T G 8: 96,291,283 (GRCm39) probably null Het
Rspo1 A G 4: 124,900,976 (GRCm39) H108R probably benign Het
Sh3bp5l C A 11: 58,237,098 (GRCm39) H352N probably damaging Het
Skor1 T C 9: 63,047,636 (GRCm39) probably null Het
Smad6 A G 9: 63,919,509 (GRCm39) Y289H probably benign Het
Spart G A 3: 55,034,982 (GRCm39) G456D probably damaging Het
Spg11 T C 2: 121,923,924 (GRCm39) E799G probably damaging Het
Tbc1d4 T G 14: 101,845,695 (GRCm39) K68Q probably damaging Het
Treml2 A G 17: 48,616,247 (GRCm39) M296V probably benign Het
Ugt2b1 C A 5: 87,067,116 (GRCm39) D436Y probably damaging Het
Usp9y A T Y: 1,325,042 (GRCm39) probably null Homo
Vmn2r6 T C 3: 64,445,580 (GRCm39) Y626C probably damaging Het
Xpc G A 6: 91,483,839 (GRCm39) A169V probably benign Het
Zfp74 A G 7: 29,633,860 (GRCm39) I616T 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
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
R8231:Zfp131 UTSW 13 120,237,348 (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'- CAGAGATGTCCTGTCATTCTCTG -3'
(R):5'- CACTGCTTCAGGTCCAAGTG -3'

Sequencing Primer
(F):5'- TTCTAGCTTGGGAATACTCGC -3'
(R):5'- TGGATTCCGCACAAGTAACTGTG -3'
Posted On 2018-08-29