Incidental Mutation 'R7916:Zfp729a'
ID 648102
Institutional Source Beutler Lab
Gene Symbol Zfp729a
Ensembl Gene ENSMUSG00000021510
Gene Name zinc finger protein 729a
Synonyms A530054K11Rik
MMRRC Submission 045964-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R7916 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 67760882-67785910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 67768294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 645 (R645H)
Ref Sequence ENSEMBL: ENSMUSP00000012314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012314] [ENSMUST00000224814] [ENSMUST00000225627]
AlphaFold Q4QQP3
Predicted Effect probably benign
Transcript: ENSMUST00000012314
AA Change: R645H

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: R645H

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 probably benign
Transcript: ENSMUST00000224814
Predicted Effect probably benign
Transcript: ENSMUST00000225627
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,682,454 (GRCm39) L195* probably null Het
Ahnak T G 19: 8,983,196 (GRCm39) D1493E possibly damaging Het
Alox12e C A 11: 70,212,111 (GRCm39) R162L probably benign Het
Bax T G 7: 45,115,539 (GRCm39) Q32P probably benign Het
Cand1 A G 10: 119,052,493 (GRCm39) M204T probably benign Het
Chd9 T A 8: 91,761,684 (GRCm39) Y2256* probably null Het
Chuk A G 19: 44,085,420 (GRCm39) I242T probably damaging Het
Cic T C 7: 24,987,715 (GRCm39) S1468P probably damaging Het
Col27a1 A G 4: 63,142,789 (GRCm39) H159R probably damaging Het
Cux1 T C 5: 136,311,815 (GRCm39) K1174E probably damaging Het
Dnah2 C A 11: 69,311,974 (GRCm39) probably null Het
Dpp3 C A 19: 4,967,052 (GRCm39) E351* probably null Het
Dyrk1a A G 16: 94,474,200 (GRCm39) Y319C probably damaging Het
E130308A19Rik T C 4: 59,719,841 (GRCm39) S458P probably damaging Het
Ehmt1 G A 2: 24,746,708 (GRCm39) L425F probably damaging Het
Emp2 C A 16: 10,102,437 (GRCm39) R125L possibly damaging Het
Farsb A G 1: 78,435,200 (GRCm39) probably null Het
Frk A T 10: 34,360,021 (GRCm39) R7S possibly damaging Het
Glb1l2 T C 9: 26,678,720 (GRCm39) T483A probably benign Het
Gm5773 T C 3: 93,680,586 (GRCm39) V86A possibly damaging Het
Gm7324 T G 14: 43,952,003 (GRCm39) D215E probably benign Het
Gng13 A T 17: 25,937,932 (GRCm39) K44* probably null Het
Gprin1 C T 13: 54,887,263 (GRCm39) G337D possibly damaging Het
Ighv1-84 G T 12: 115,944,609 (GRCm39) Q22K probably benign Het
Il20rb T C 9: 100,348,304 (GRCm39) H210R probably benign Het
Iqcm C T 8: 76,304,578 (GRCm39) S113L probably benign Het
Kat6b AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 14: 21,712,417 (GRCm39) probably benign Het
Kmo G T 1: 175,487,236 (GRCm39) G430W probably damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Ldhd T G 8: 112,356,023 (GRCm39) D120A possibly damaging Het
Lyst T C 13: 13,821,657 (GRCm39) S1344P possibly damaging Het
Mb T A 15: 76,900,257 (GRCm39) I112F probably damaging Het
Mbd5 G A 2: 49,147,118 (GRCm39) V443M probably damaging Het
Milr1 A G 11: 106,654,688 (GRCm39) K180R possibly damaging Het
Mst1r T C 9: 107,784,777 (GRCm39) F145S probably damaging Het
Mthfd2 A T 6: 83,286,455 (GRCm39) I251K possibly damaging Het
Nfx1 T A 4: 40,977,142 (GRCm39) M272K probably benign Het
Nlrp3 A G 11: 59,442,689 (GRCm39) D747G probably benign Het
Odr4 C T 1: 150,260,249 (GRCm39) R123K probably benign Het
Or2y1 A T 11: 49,385,543 (GRCm39) Y61F probably benign Het
Or5p60 C A 7: 107,724,329 (GRCm39) S47I possibly damaging Het
Or8k18 A T 2: 86,085,202 (GRCm39) Y278* probably null Het
Pcdha11 A G 18: 37,140,441 (GRCm39) E690G probably benign Het
Pcdhga4 T A 18: 37,818,502 (GRCm39) I17N probably benign Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phf20 A G 2: 156,129,858 (GRCm39) K477E probably damaging Het
Pik3c2b T A 1: 133,028,642 (GRCm39) I1377N probably benign Het
Polr3h T C 15: 81,806,613 (GRCm39) K69E probably benign Het
Rpgrip1 A G 14: 52,368,641 (GRCm39) H280R possibly damaging Het
Rpp40 C A 13: 36,086,034 (GRCm39) R132L probably benign Het
Ryr1 G A 7: 28,790,364 (GRCm39) Q1488* probably null Het
Sh3bp1 A G 15: 78,791,421 (GRCm39) M403V probably benign Het
Slc20a1 G A 2: 129,049,757 (GRCm39) D340N probably benign Het
Snrnp200 T A 2: 127,074,979 (GRCm39) N1517K possibly damaging Het
Srek1ip1 T A 13: 104,973,981 (GRCm39) H129Q possibly damaging Het
Thumpd2 A T 17: 81,334,116 (GRCm39) C491S probably benign Het
Tle3 A T 9: 61,314,410 (GRCm39) N204I probably benign Het
Tmem131 A G 1: 36,862,167 (GRCm39) V677A probably benign Het
Topaz1 T G 9: 122,576,499 (GRCm39) L30R probably benign Het
Trim35 T A 14: 66,546,309 (GRCm39) C359S probably damaging Het
Ttn A C 2: 76,774,865 (GRCm39) V2105G unknown Het
Ube2o A G 11: 116,471,884 (GRCm39) V119A probably benign Het
Ubr2 A T 17: 47,279,308 (GRCm39) probably null Het
Uhmk1 A G 1: 170,032,757 (GRCm39) V347A possibly damaging Het
Utp4 C T 8: 107,649,497 (GRCm39) P649S probably damaging Het
Vmn2r28 G A 7: 5,483,818 (GRCm39) T794I probably damaging Het
Vmn2r61 T G 7: 41,949,935 (GRCm39) F785C probably damaging Het
Xpot C A 10: 121,458,848 (GRCm39) probably benign 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
R6540:Zfp729a UTSW 13 67,767,767 (GRCm39) missense possibly damaging 0.81
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
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'- GGAAGTCCTTGCCACACACTT -3'
(R):5'- GAAAGGCCTTCCGCTCTCT -3'

Sequencing Primer
(F):5'- ACACTTCACACTGGTATGGC -3'
(R):5'- ACGTATGTGGCCAGGCATTC -3'
Posted On 2020-09-15