Incidental Mutation 'R1400:Zfp729b'
ID 160345
Institutional Source Beutler Lab
Gene Symbol Zfp729b
Ensembl Gene ENSMUSG00000058093
Gene Name zinc finger protein 729b
Synonyms AA987161
MMRRC Submission 039462-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R1400 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 67737558-67757767 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67740913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 451 (Y451H)
Ref Sequence ENSEMBL: ENSMUSP00000012873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012873] [ENSMUST00000138725] [ENSMUST00000224814] [ENSMUST00000225627]
AlphaFold Q80VN4
Predicted Effect possibly damaging
Transcript: ENSMUST00000012873
AA Change: Y451H

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000012873
Gene: ENSMUSG00000058093
AA Change: Y451H

DomainStartEndE-ValueType
KRAB 5 65 1.63e-28 SMART
ZnF_C2H2 132 154 3.58e-2 SMART
PHD 133 194 1e1 SMART
ZnF_C2H2 160 182 3.21e-4 SMART
ZnF_C2H2 188 210 6.78e-3 SMART
ZnF_C2H2 216 238 3.16e-3 SMART
PHD 217 278 7.77e0 SMART
ZnF_C2H2 244 266 6.67e-2 SMART
ZnF_C2H2 272 294 1.12e-3 SMART
ZnF_C2H2 300 322 1.79e-2 SMART
PHD 301 362 1.65e1 SMART
ZnF_C2H2 328 350 2.57e-3 SMART
ZnF_C2H2 356 378 2.43e-4 SMART
ZnF_C2H2 412 434 1.67e-2 SMART
ZnF_C2H2 440 462 1.28e-3 SMART
PHD 441 502 4.46e0 SMART
ZnF_C2H2 468 490 1.58e-3 SMART
ZnF_C2H2 496 518 2.95e-3 SMART
ZnF_C2H2 524 546 4.47e-3 SMART
PHD 525 586 5.77e0 SMART
ZnF_C2H2 552 574 5.42e-2 SMART
ZnF_C2H2 580 602 1.03e-2 SMART
ZnF_C2H2 608 630 5.5e-3 SMART
PHD 609 670 1.52e1 SMART
ZnF_C2H2 636 658 6.99e-5 SMART
ZnF_C2H2 664 686 3.34e-2 SMART
ZnF_C2H2 720 742 3.63e-3 SMART
PHD 721 782 2.67e0 SMART
ZnF_C2H2 748 770 5.42e-2 SMART
ZnF_C2H2 776 798 5.14e-3 SMART
ZnF_C2H2 804 826 4.17e-3 SMART
ZnF_C2H2 832 854 1.47e-3 SMART
PHD 833 894 4.93e0 SMART
ZnF_C2H2 860 882 3.83e-2 SMART
ZnF_C2H2 888 910 4.4e-2 SMART
ZnF_C2H2 916 938 7.78e-3 SMART
ZnF_C2H2 944 966 4.17e-3 SMART
ZnF_C2H2 972 994 1.38e-3 SMART
ZnF_C2H2 1000 1022 1.69e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133177
Predicted Effect probably benign
Transcript: ENSMUST00000138725
SMART Domains Protein: ENSMUSP00000115783
Gene: ENSMUSG00000058093

DomainStartEndE-ValueType
KRAB 15 75 1.63e-28 SMART
ZnF_C2H2 142 164 3.58e-2 SMART
ZnF_C2H2 170 192 3.21e-4 SMART
ZnF_C2H2 198 220 6.78e-3 SMART
ZnF_C2H2 226 248 3.16e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223599
Predicted Effect probably benign
Transcript: ENSMUST00000224814
AA Change: Y461H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000225627
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T C 17: 41,191,195 (GRCm39) E78G probably damaging Het
Acsf2 T C 11: 94,461,142 (GRCm39) I345V probably benign Het
Akap11 T A 14: 78,751,402 (GRCm39) K328N probably damaging Het
Aoc1 T A 6: 48,883,217 (GRCm39) Y364* probably null Het
Aoc1 A T 6: 48,883,645 (GRCm39) Q507L probably benign Het
Atp6v1c2 T C 12: 17,339,131 (GRCm39) T207A probably benign Het
Atr C A 9: 95,744,901 (GRCm39) Q73K probably benign Het
Cage1 A G 13: 38,216,400 (GRCm39) S17P possibly damaging Het
Cfap44 A T 16: 44,241,575 (GRCm39) I649F probably benign Het
Cops4 A G 5: 100,681,412 (GRCm39) K200R probably damaging Het
Crygd A G 1: 65,102,367 (GRCm39) S32P probably damaging Het
Cyp3a11 A G 5: 145,799,299 (GRCm39) I296T probably damaging Het
Fads3 A G 19: 10,033,664 (GRCm39) probably null Het
Fbn2 T C 18: 58,213,265 (GRCm39) E974G possibly damaging Het
Gcgr A G 11: 120,425,812 (GRCm39) H45R probably benign Het
Gcn1 T C 5: 115,752,220 (GRCm39) I2112T probably damaging Het
Gm43302 A T 5: 105,422,622 (GRCm39) I470N probably damaging Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Krt13 C A 11: 100,012,110 (GRCm39) G71V probably damaging Het
Las1l T C X: 94,990,506 (GRCm39) T390A possibly damaging Het
Lifr T A 15: 7,220,346 (GRCm39) V992E probably benign Het
Mbd5 T C 2: 49,164,788 (GRCm39) probably null Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Ndst3 A G 3: 123,350,477 (GRCm39) F636S probably damaging Het
Necab1 T C 4: 14,975,185 (GRCm39) D232G possibly damaging Het
Nlrp4e A T 7: 23,021,085 (GRCm39) E524V possibly damaging Het
Nxf3 T A X: 134,976,794 (GRCm39) T349S probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or4c12 T A 2: 89,773,886 (GRCm39) H191L possibly damaging Het
Or4n5 A T 14: 50,133,148 (GRCm39) I37K possibly damaging Het
Or7g29 A G 9: 19,286,358 (GRCm39) V273A probably damaging Het
Or9g19 T C 2: 85,600,477 (GRCm39) C111R possibly damaging Het
Plscr1l1 G T 9: 92,233,180 (GRCm39) C25F probably benign Het
Ppm1e T A 11: 87,122,592 (GRCm39) N455I probably damaging Het
Prkag2 G A 5: 25,078,916 (GRCm39) T158I probably damaging Het
Ptpn18 T C 1: 34,502,587 (GRCm39) probably null Het
Rai14 T G 15: 10,571,634 (GRCm39) K936N probably damaging Het
Rasgrf2 A G 13: 92,035,808 (GRCm39) L1077P probably damaging Het
Rgn C A X: 20,416,696 (GRCm39) Q27K probably benign Het
Ryr2 C T 13: 11,609,962 (GRCm39) S723N probably benign Het
Scamp1 A G 13: 94,361,455 (GRCm39) F142L possibly damaging Het
Selenon A G 4: 134,278,829 (GRCm39) V67A probably benign Het
Slc5a5 T C 8: 71,342,079 (GRCm39) I292V possibly damaging Het
Smarca2 C A 19: 26,654,140 (GRCm39) T775K probably damaging Het
Stab1 C T 14: 30,861,787 (GRCm39) V2437I possibly damaging Het
Tas2r143 C T 6: 42,377,317 (GRCm39) A49V probably benign Het
Tlr7 T A X: 166,090,845 (GRCm39) N214Y probably damaging Het
Unc13a C A 8: 72,103,865 (GRCm39) D856Y probably damaging Het
Upp2 T C 2: 58,680,118 (GRCm39) Y263H probably damaging Het
Vill T C 9: 118,892,415 (GRCm39) S349P probably benign Het
Zfp644 T C 5: 106,785,336 (GRCm39) probably null Het
Zfp664 T C 5: 124,963,217 (GRCm39) C204R unknown Het
Other mutations in Zfp729b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02083:Zfp729b APN 13 67,743,349 (GRCm39) missense probably benign 0.09
IGL02852:Zfp729b APN 13 67,740,942 (GRCm39) missense probably damaging 0.99
PIT4449001:Zfp729b UTSW 13 67,739,542 (GRCm39) missense probably benign 0.01
R0238:Zfp729b UTSW 13 67,740,022 (GRCm39) missense probably damaging 0.98
R0238:Zfp729b UTSW 13 67,740,022 (GRCm39) missense probably damaging 0.98
R0450:Zfp729b UTSW 13 67,739,253 (GRCm39) missense probably benign
R0510:Zfp729b UTSW 13 67,739,253 (GRCm39) missense probably benign
R1122:Zfp729b UTSW 13 67,743,403 (GRCm39) missense possibly damaging 0.75
R1915:Zfp729b UTSW 13 67,741,339 (GRCm39) missense probably damaging 1.00
R1929:Zfp729b UTSW 13 67,740,352 (GRCm39) missense probably damaging 1.00
R2229:Zfp729b UTSW 13 67,743,384 (GRCm39) missense probably damaging 0.99
R2270:Zfp729b UTSW 13 67,740,352 (GRCm39) missense probably damaging 1.00
R2271:Zfp729b UTSW 13 67,740,352 (GRCm39) missense probably damaging 1.00
R2344:Zfp729b UTSW 13 67,740,352 (GRCm39) missense probably damaging 1.00
R2377:Zfp729b UTSW 13 67,739,820 (GRCm39) missense possibly damaging 0.70
R2930:Zfp729b UTSW 13 67,739,973 (GRCm39) missense probably benign
R3053:Zfp729b UTSW 13 67,741,585 (GRCm39) missense probably damaging 1.00
R3404:Zfp729b UTSW 13 67,739,283 (GRCm39) missense probably damaging 0.98
R4118:Zfp729b UTSW 13 67,740,829 (GRCm39) missense possibly damaging 0.91
R4947:Zfp729b UTSW 13 67,744,791 (GRCm39) missense probably damaging 1.00
R5408:Zfp729b UTSW 13 67,739,563 (GRCm39) missense probably benign 0.18
R5511:Zfp729b UTSW 13 67,740,499 (GRCm39) missense probably damaging 1.00
R5542:Zfp729b UTSW 13 67,739,140 (GRCm39) missense probably benign
R5908:Zfp729b UTSW 13 67,739,374 (GRCm39) missense probably benign 0.00
R5977:Zfp729b UTSW 13 67,739,740 (GRCm39) missense probably benign 0.03
R5996:Zfp729b UTSW 13 67,741,977 (GRCm39) missense probably benign 0.18
R7086:Zfp729b UTSW 13 67,741,056 (GRCm39) missense probably damaging 0.99
R7146:Zfp729b UTSW 13 67,741,495 (GRCm39) missense probably damaging 1.00
R7217:Zfp729b UTSW 13 67,743,367 (GRCm39) missense probably damaging 0.96
R7332:Zfp729b UTSW 13 67,757,755 (GRCm39) splice site probably null
R7472:Zfp729b UTSW 13 67,742,002 (GRCm39) missense probably benign 0.00
R7615:Zfp729b UTSW 13 67,739,617 (GRCm39) missense possibly damaging 0.77
R7639:Zfp729b UTSW 13 67,739,971 (GRCm39) missense probably benign 0.02
R7652:Zfp729b UTSW 13 67,739,371 (GRCm39) missense probably benign 0.00
R7738:Zfp729b UTSW 13 67,740,194 (GRCm39) missense probably benign 0.00
R8137:Zfp729b UTSW 13 67,740,861 (GRCm39) missense probably damaging 1.00
R8381:Zfp729b UTSW 13 67,739,617 (GRCm39) missense possibly damaging 0.77
R8402:Zfp729b UTSW 13 67,740,696 (GRCm39) missense probably damaging 1.00
R8941:Zfp729b UTSW 13 67,741,218 (GRCm39) missense possibly damaging 0.95
R9014:Zfp729b UTSW 13 67,740,274 (GRCm39) missense probably damaging 1.00
R9091:Zfp729b UTSW 13 67,740,480 (GRCm39) missense probably damaging 1.00
R9168:Zfp729b UTSW 13 67,741,942 (GRCm39) nonsense probably null
R9270:Zfp729b UTSW 13 67,740,480 (GRCm39) missense probably damaging 1.00
R9390:Zfp729b UTSW 13 67,742,014 (GRCm39) missense possibly damaging 0.95
R9390:Zfp729b UTSW 13 67,739,182 (GRCm39) missense probably benign 0.00
R9442:Zfp729b UTSW 13 67,739,337 (GRCm39) missense probably benign 0.25
R9620:Zfp729b UTSW 13 67,739,787 (GRCm39) missense probably damaging 1.00
X0023:Zfp729b UTSW 13 67,740,578 (GRCm39) missense possibly damaging 0.95
X0028:Zfp729b UTSW 13 67,740,313 (GRCm39) missense probably damaging 1.00
Z1088:Zfp729b UTSW 13 67,741,189 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TCCACAAATCTCACAACTGTAGGCTTTT -3'
(R):5'- GCTTTCCGTTCTCTGTCATCACTTTCTAA -3'

Sequencing Primer
(F):5'- agaaagtagtgatgaataatggaagg -3'
(R):5'- tgtagcaatgccttcgtttatc -3'
Posted On 2014-03-14