Incidental Mutation 'R6540:Zfp729a'
ID 520714
Institutional Source Beutler Lab
Gene Symbol Zfp729a
Ensembl Gene ENSMUSG00000021510
Gene Name zinc finger protein 729a
Synonyms A530054K11Rik
MMRRC Submission 044666-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R6540 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 67760882-67785910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67767767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 821 (C821R)
Ref Sequence ENSEMBL: ENSMUSP00000012314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012314] [ENSMUST00000224814] [ENSMUST00000225627]
AlphaFold Q4QQP3
Predicted Effect possibly damaging
Transcript: ENSMUST00000012314
AA Change: C821R

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: C821R

DomainStartEndE-ValueType
KRAB 15 75 6.23e-34 SMART
ZnF_C2H2 91 111 1.91e1 SMART
ZnF_C2H2 147 169 8.34e-3 SMART
PHD 148 209 9.1e0 SMART
ZnF_C2H2 175 197 3.21e-4 SMART
ZnF_C2H2 203 225 6.78e-3 SMART
ZnF_C2H2 231 253 4.47e-3 SMART
PHD 232 293 1.11e1 SMART
RING 233 292 9.27e0 SMART
ZnF_C2H2 259 281 6.67e-2 SMART
ZnF_C2H2 287 309 1.12e-3 SMART
ZnF_C2H2 315 337 3.83e-2 SMART
PHD 316 377 1.35e1 SMART
ZnF_C2H2 343 365 2.57e-3 SMART
ZnF_C2H2 371 393 1.98e-4 SMART
Pfam:zf-C2HC_2 402 422 7.7e-4 PFAM
ZnF_C2H2 427 449 1.67e-2 SMART
ZnF_C2H2 455 477 1.38e-3 SMART
PHD 456 517 5.33e0 SMART
RING 457 516 9.02e0 SMART
ZnF_C2H2 483 505 3.89e-3 SMART
ZnF_C2H2 511 533 7.49e-5 SMART
ZnF_C2H2 539 561 5.5e-3 SMART
PHD 540 601 1.46e1 SMART
ZnF_C2H2 567 589 3.58e-2 SMART
ZnF_C2H2 595 617 8.34e-3 SMART
ZnF_C2H2 651 673 4.11e-2 SMART
PHD 652 713 4.64e0 SMART
RING 653 712 6.37e0 SMART
ZnF_C2H2 679 701 2.4e-3 SMART
ZnF_C2H2 707 729 1.03e-2 SMART
ZnF_C2H2 735 757 1.47e-3 SMART
PHD 736 797 5.44e0 SMART
RING 737 796 5.88e0 SMART
ZnF_C2H2 763 785 6.67e-2 SMART
ZnF_C2H2 791 813 2.36e-2 SMART
ZnF_C2H2 819 841 6.32e-3 SMART
ZnF_C2H2 847 869 1.26e-2 SMART
ZnF_C2H2 875 897 6.78e-3 SMART
PHD 876 937 4.55e0 SMART
ZnF_C2H2 903 925 9.58e-3 SMART
ZnF_C2H2 931 953 9.08e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224548
Predicted Effect probably benign
Transcript: ENSMUST00000224814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225608
Predicted Effect probably benign
Transcript: ENSMUST00000225627
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,660,779 (GRCm39) Y143H possibly damaging Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adamts2 T C 11: 50,679,567 (GRCm39) V849A possibly damaging Het
Ash1l A T 3: 88,892,368 (GRCm39) T1416S probably damaging Het
Cdc5l A G 17: 45,737,570 (GRCm39) W63R probably damaging Het
Cep95 T A 11: 106,692,328 (GRCm39) D169E probably damaging Het
Col14a1 A C 15: 55,235,977 (GRCm39) N297T unknown Het
Cp T C 3: 20,018,693 (GRCm39) probably null Het
Fbxl19 G T 7: 127,347,525 (GRCm39) probably benign Het
Flnc T C 6: 29,446,376 (GRCm39) V931A possibly damaging Het
Foxj2 A G 6: 122,810,202 (GRCm39) H187R probably benign Het
Hectd4 G A 5: 121,441,634 (GRCm39) V1199I probably benign Het
Ighv7-4 A G 12: 114,186,470 (GRCm39) Y101H possibly damaging Het
Igkv10-94 T A 6: 68,681,507 (GRCm39) Y111F probably benign Het
Lin28a C T 4: 133,745,372 (GRCm39) V74M possibly damaging Het
Lrrc49 T C 9: 60,592,335 (GRCm39) N53S possibly damaging Het
Mroh9 T G 1: 162,866,541 (GRCm39) T701P possibly damaging Het
Ndst4 A T 3: 125,515,801 (GRCm39) K309* probably null Het
Nlrp9a T C 7: 26,256,817 (GRCm39) V145A possibly damaging Het
Or2l5 T C 16: 19,333,571 (GRCm39) I272V probably benign Het
Ovgp1 A T 3: 105,893,897 (GRCm39) K557* probably null Het
Pde4b T C 4: 102,459,073 (GRCm39) L546P probably damaging Het
Pkd1 G A 17: 24,794,951 (GRCm39) V2213M probably damaging Het
Plekhh1 A G 12: 79,111,263 (GRCm39) I542V probably benign Het
Ppan A G 9: 20,802,506 (GRCm39) probably null Het
Prdm15 A T 16: 97,637,005 (GRCm39) V104E probably benign Het
Semp2l2a A C 8: 13,887,573 (GRCm39) S173A probably benign Het
Sik3 A G 9: 46,123,351 (GRCm39) H1050R probably benign Het
Slc35d3 A G 10: 19,725,086 (GRCm39) F257L possibly damaging Het
Tfip11 A G 5: 112,482,263 (GRCm39) probably null Het
Tmem132d A G 5: 128,345,596 (GRCm39) S309P possibly damaging Het
Tmem87a T C 2: 120,234,400 (GRCm39) I48V probably benign Het
V1rd19 T A 7: 23,703,056 (GRCm39) L174* probably null Het
Zfp970 C A 2: 177,167,388 (GRCm39) H321N probably damaging Het
Zzef1 T C 11: 72,804,055 (GRCm39) L2599P probably damaging Het
Other mutations in Zfp729a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Zfp729a APN 13 67,767,440 (GRCm39) missense probably benign 0.01
IGL01956:Zfp729a APN 13 67,769,805 (GRCm39) missense probably damaging 1.00
IGL02852:Zfp729a APN 13 67,768,070 (GRCm39) missense possibly damaging 0.69
IGL03130:Zfp729a APN 13 67,767,761 (GRCm39) splice site probably null
adalet UTSW 13 67,767,626 (GRCm39) missense probably benign 0.00
R0329:Zfp729a UTSW 13 67,768,473 (GRCm39) missense probably damaging 1.00
R0330:Zfp729a UTSW 13 67,768,473 (GRCm39) missense probably damaging 1.00
R0383:Zfp729a UTSW 13 67,769,792 (GRCm39) missense possibly damaging 0.83
R0545:Zfp729a UTSW 13 67,768,345 (GRCm39) missense probably benign 0.09
R1013:Zfp729a UTSW 13 67,767,626 (GRCm39) missense probably benign 0.00
R1079:Zfp729a UTSW 13 67,767,794 (GRCm39) missense possibly damaging 0.71
R1255:Zfp729a UTSW 13 67,769,965 (GRCm39) missense probably benign 0.03
R1525:Zfp729a UTSW 13 67,767,440 (GRCm39) missense probably benign 0.01
R1768:Zfp729a UTSW 13 67,767,370 (GRCm39) missense probably benign 0.00
R1926:Zfp729a UTSW 13 67,767,676 (GRCm39) missense probably benign 0.29
R2043:Zfp729a UTSW 13 67,769,291 (GRCm39) missense probably damaging 1.00
R2118:Zfp729a UTSW 13 67,769,613 (GRCm39) splice site probably null
R3820:Zfp729a UTSW 13 67,769,438 (GRCm39) missense probably damaging 1.00
R3830:Zfp729a UTSW 13 67,767,997 (GRCm39) missense probably damaging 1.00
R3926:Zfp729a UTSW 13 67,768,310 (GRCm39) nonsense probably null
R4134:Zfp729a UTSW 13 67,767,925 (GRCm39) missense probably damaging 1.00
R4135:Zfp729a UTSW 13 67,767,925 (GRCm39) missense probably damaging 1.00
R4670:Zfp729a UTSW 13 67,769,534 (GRCm39) nonsense probably null
R4793:Zfp729a UTSW 13 67,768,546 (GRCm39) missense probably damaging 1.00
R5009:Zfp729a UTSW 13 67,768,365 (GRCm39) missense probably benign 0.01
R5125:Zfp729a UTSW 13 67,785,764 (GRCm39) critical splice donor site probably null
R5178:Zfp729a UTSW 13 67,785,764 (GRCm39) critical splice donor site probably null
R5438:Zfp729a UTSW 13 67,767,705 (GRCm39) missense possibly damaging 0.94
R6731:Zfp729a UTSW 13 67,768,265 (GRCm39) missense probably benign 0.09
R6987:Zfp729a UTSW 13 67,768,058 (GRCm39) nonsense probably null
R7001:Zfp729a UTSW 13 67,768,468 (GRCm39) missense probably benign 0.31
R7626:Zfp729a UTSW 13 67,768,437 (GRCm39) nonsense probably null
R7706:Zfp729a UTSW 13 67,771,612 (GRCm39) missense possibly damaging 0.72
R7855:Zfp729a UTSW 13 67,768,067 (GRCm39) missense possibly damaging 0.94
R7864:Zfp729a UTSW 13 67,769,569 (GRCm39) missense probably benign 0.34
R7916:Zfp729a UTSW 13 67,768,294 (GRCm39) missense probably benign 0.20
R8061:Zfp729a UTSW 13 67,768,208 (GRCm39) missense probably benign
R8187:Zfp729a UTSW 13 67,769,918 (GRCm39) nonsense probably null
R8191:Zfp729a UTSW 13 67,769,838 (GRCm39) missense probably benign 0.01
R8275:Zfp729a UTSW 13 67,768,223 (GRCm39) missense probably benign 0.08
R8469:Zfp729a UTSW 13 67,769,481 (GRCm39) missense probably damaging 1.00
R8733:Zfp729a UTSW 13 67,769,104 (GRCm39) missense probably damaging 0.96
R8911:Zfp729a UTSW 13 67,768,061 (GRCm39) missense probably benign 0.25
R9211:Zfp729a UTSW 13 67,767,820 (GRCm39) missense probably benign 0.05
R9355:Zfp729a UTSW 13 67,767,515 (GRCm39) missense probably damaging 1.00
R9505:Zfp729a UTSW 13 67,767,673 (GRCm39) missense probably damaging 0.97
R9786:Zfp729a UTSW 13 67,768,628 (GRCm39) missense possibly damaging 0.83
X0010:Zfp729a UTSW 13 67,769,901 (GRCm39) missense probably damaging 0.98
Z1177:Zfp729a UTSW 13 67,768,350 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ATGCTTGGAAAGTCGTGAGG -3'
(R):5'- CCTACAAGTGTGAAGAATGTGGC -3'

Sequencing Primer
(F):5'- TGCCACATAAGTCACACTTGTAGGG -3'
(R):5'- GGCAAGGCCTTCCATTTTC -3'
Posted On 2018-06-06