Incidental Mutation 'R5119:Znfx1'
ID 392786
Institutional Source Beutler Lab
Gene Symbol Znfx1
Ensembl Gene ENSMUSG00000039501
Gene Name zinc finger, NFX1-type containing 1
Synonyms
MMRRC Submission 042707-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5119 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 166877713-166904935 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 166907307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048988] [ENSMUST00000128676] [ENSMUST00000155281]
AlphaFold Q8R151
Predicted Effect probably benign
Transcript: ENSMUST00000048988
SMART Domains Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501

DomainStartEndE-ValueType
Pfam:AAA_11 590 855 2.2e-17 PFAM
Pfam:AAA_19 597 684 1.7e-10 PFAM
Pfam:AAA_11 829 1033 1.4e-18 PFAM
Pfam:AAA_12 1044 1228 3.7e-42 PFAM
internal_repeat_2 1281 1374 1.33e-7 PROSPERO
internal_repeat_1 1292 1410 1.32e-16 PROSPERO
low complexity region 1422 1433 N/A INTRINSIC
internal_repeat_1 1434 1547 1.32e-16 PROSPERO
internal_repeat_2 1453 1555 1.33e-7 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125841
Predicted Effect probably benign
Transcript: ENSMUST00000128676
SMART Domains Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501

DomainStartEndE-ValueType
Pfam:AAA_11 590 837 1.8e-17 PFAM
Pfam:AAA_19 597 684 3.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135967
Predicted Effect probably benign
Transcript: ENSMUST00000155281
SMART Domains Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501

DomainStartEndE-ValueType
Pfam:AAA_11 590 854 1.7e-17 PFAM
Pfam:AAA_19 597 684 3.6e-11 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (127/127)
Allele List at MGI
Other mutations in this stock
Total: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930470P17Rik C A 2: 170,421,505 (GRCm39) G125V unknown Het
Actr6 A T 10: 89,561,717 (GRCm39) L143Q probably damaging Het
Adamts18 A G 8: 114,425,642 (GRCm39) Y1207H probably benign Het
Adamts5 T A 16: 85,696,466 (GRCm39) R230S probably benign Het
Adat2 A T 10: 13,432,650 (GRCm39) N51Y probably damaging Het
Adgrv1 T C 13: 81,567,546 (GRCm39) Y5209C possibly damaging Het
Ahnak G T 19: 8,991,008 (GRCm39) M4097I probably benign Het
Akap13 A G 7: 75,337,000 (GRCm39) T820A probably damaging Het
Als2cl C T 9: 110,719,887 (GRCm39) R492C probably damaging Het
Aox3 G A 1: 58,227,683 (GRCm39) probably null Het
Arid4b G A 13: 14,338,866 (GRCm39) V446M probably benign Het
Armc2 A G 10: 41,798,144 (GRCm39) L794P probably damaging Het
Atp6v0a1 T A 11: 100,911,341 (GRCm39) M80K probably benign Het
Aup1 T C 6: 83,032,115 (GRCm39) V94A probably damaging Het
Bank1 A T 3: 135,940,443 (GRCm39) I180K possibly damaging Het
Becn1 A G 11: 101,182,221 (GRCm39) L116P probably damaging Het
Bsg A G 10: 79,546,057 (GRCm39) probably benign Het
Camk2a A T 18: 61,076,208 (GRCm39) probably benign Het
Ccdc180 A G 4: 45,914,603 (GRCm39) E706G possibly damaging Het
Cdk8 A T 5: 146,220,437 (GRCm39) probably null Het
Cpne4 A G 9: 104,778,720 (GRCm39) probably null Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Cyp2c38 C A 19: 39,449,065 (GRCm39) G96V probably damaging Het
Dhx40 A G 11: 86,667,462 (GRCm39) I261T probably damaging Het
Dnah10 T C 5: 124,856,322 (GRCm39) F2038L probably damaging Het
Dnah7a A T 1: 53,737,851 (GRCm39) D27E probably benign Het
Dock10 A T 1: 80,545,711 (GRCm39) probably null Het
Dst A T 1: 34,235,050 (GRCm39) K3710* probably null Het
Dtl G T 1: 191,273,618 (GRCm39) A430D probably damaging Het
Ece2 T C 16: 20,437,381 (GRCm39) L241P probably damaging Het
Ecel1 T A 1: 87,078,861 (GRCm39) Y526F probably benign Het
Enpp2 T A 15: 54,733,701 (GRCm39) R420* probably null Het
Epb41 A C 4: 131,664,747 (GRCm39) probably benign Het
Eppin T C 2: 164,431,371 (GRCm39) Y85C probably damaging Het
Fam171a2 G A 11: 102,329,559 (GRCm39) A400V probably damaging Het
Fem1c A C 18: 46,639,436 (GRCm39) C189G probably damaging Het
Frmd4b A G 6: 97,277,275 (GRCm39) V560A probably benign Het
Fsip2 A T 2: 82,818,535 (GRCm39) D4756V probably damaging Het
Gabbr1 T C 17: 37,359,330 (GRCm39) S102P probably damaging Het
Garin3 G A 11: 46,297,863 (GRCm39) G389D probably damaging Het
Gm28042 G A 2: 119,865,124 (GRCm39) A250T probably damaging Het
Gm30275 T C 14: 54,312,978 (GRCm39) probably benign Het
Gm9762 A T 3: 78,873,707 (GRCm39) noncoding transcript Het
Gpr183 G T 14: 122,192,275 (GRCm39) T82N possibly damaging Het
Gps2 A G 11: 69,805,617 (GRCm39) K45R probably benign Het
Gramd2a A G 9: 59,621,603 (GRCm39) probably benign Het
Grap2 G A 15: 80,530,345 (GRCm39) R155Q possibly damaging Het
Hsdl1 T A 8: 120,292,606 (GRCm39) Y203F possibly damaging Het
Ifi204 A T 1: 173,583,234 (GRCm39) I328N probably damaging Het
Igsf3 T A 3: 101,346,677 (GRCm39) probably null Het
Il1rap T C 16: 26,442,949 (GRCm39) I15T probably benign Het
Il23r A T 6: 67,443,300 (GRCm39) C268S probably damaging Het
Irx4 A G 13: 73,417,040 (GRCm39) T479A probably benign Het
Kcnk7 G A 19: 5,756,352 (GRCm39) V193I probably benign Het
Kcnt1 G T 2: 25,799,334 (GRCm39) probably benign Het
Kif13b T G 14: 64,994,902 (GRCm39) C885G probably benign Het
Kif21b C A 1: 136,090,838 (GRCm39) D1215E probably benign Het
Klhdc2 A G 12: 69,343,736 (GRCm39) probably benign Het
Kmt2d G A 15: 98,745,075 (GRCm39) probably benign Het
Lama4 A G 10: 38,924,050 (GRCm39) N486S probably benign Het
Ldah G A 12: 8,277,237 (GRCm39) A58T probably benign Het
Lrrc24 T C 15: 76,600,200 (GRCm39) Q313R probably benign Het
Luzp1 A G 4: 136,270,708 (GRCm39) D977G possibly damaging Het
Meak7 A C 8: 120,494,882 (GRCm39) L292R probably damaging Het
Mrgpra4 A G 7: 47,631,466 (GRCm39) L45P probably damaging Het
Mrps28 C T 3: 8,988,756 (GRCm39) G34D possibly damaging Het
Myh8 A G 11: 67,189,184 (GRCm39) E1120G probably damaging Het
Myt1l A G 12: 29,882,302 (GRCm39) E499G unknown Het
Ncan C T 8: 70,567,675 (GRCm39) E146K probably damaging Het
Nlgn1 A T 3: 25,487,958 (GRCm39) D763E probably damaging Het
Or11g26 T C 14: 50,752,966 (GRCm39) F102L probably benign Het
Or13c7c G T 4: 43,836,433 (GRCm39) A19D probably benign Het
Or1e17 A T 11: 73,831,378 (GRCm39) Y102F possibly damaging Het
Or4c12 A T 2: 89,774,147 (GRCm39) I104N possibly damaging Het
Or5b118 C T 19: 13,448,910 (GRCm39) T192I probably benign Het
Or6c8b T A 10: 128,882,711 (GRCm39) I74F possibly damaging Het
Pak6 A T 2: 118,525,029 (GRCm39) I552F probably damaging Het
Pcbp1 G A 6: 86,501,897 (GRCm39) A334V probably damaging Het
Pclaf T C 9: 65,798,062 (GRCm39) V32A probably benign Het
Pga5 T A 19: 10,654,053 (GRCm39) H50L probably benign Het
Phyhipl A T 10: 70,404,904 (GRCm39) D56E probably damaging Het
Pik3ap1 C T 19: 41,270,415 (GRCm39) R758H probably benign Het
Plekha1 A G 7: 130,507,094 (GRCm39) probably benign Het
Plekhm1 A T 11: 103,278,141 (GRCm39) N318K possibly damaging Het
Ppargc1b G A 18: 61,440,725 (GRCm39) A731V probably benign Het
Pptc7 T C 5: 122,451,844 (GRCm39) V100A possibly damaging Het
Prl7a1 A T 13: 27,817,564 (GRCm39) H233Q possibly damaging Het
Prpf40a A G 2: 53,034,861 (GRCm39) F776L probably damaging Het
Prrc2c T C 1: 162,533,009 (GRCm39) probably benign Het
Psmb1 T C 17: 15,718,524 (GRCm39) M1V probably null Het
Ptpn3 A G 4: 57,218,513 (GRCm39) F650S possibly damaging Het
Ranbp17 A T 11: 33,354,181 (GRCm39) *577R probably null Het
Reln T A 5: 22,176,868 (GRCm39) N1933Y probably benign Het
Rgl2 T A 17: 34,156,094 (GRCm39) H727Q probably benign Het
Rhpn2 A G 7: 35,070,549 (GRCm39) T160A probably damaging Het
Rlf G A 4: 121,004,652 (GRCm39) H1443Y probably damaging Het
Rpgrip1l T C 8: 92,007,444 (GRCm39) E382G probably damaging Het
Rxrb T C 17: 34,252,562 (GRCm39) S50P probably benign Het
Scn4b A T 9: 45,059,056 (GRCm39) E109V probably damaging Het
Scrib C T 15: 75,923,602 (GRCm39) probably null Het
Slc22a29 A T 19: 8,195,194 (GRCm39) V147D probably damaging Het
Slc4a4 A T 5: 89,102,721 (GRCm39) E53V probably null Het
Slx4 A G 16: 3,819,063 (GRCm39) S37P possibly damaging Het
Spag9 G A 11: 94,013,548 (GRCm39) G1127D probably damaging Het
Srek1 T A 13: 103,889,064 (GRCm39) probably benign Het
Supt5 G T 7: 28,015,795 (GRCm39) P849Q probably damaging Het
Tex14 T C 11: 87,324,639 (GRCm39) S2P probably damaging Het
Them7 A G 2: 105,209,153 (GRCm39) T158A probably benign Het
Tll2 A G 19: 41,118,948 (GRCm39) V260A possibly damaging Het
Tlr6 A G 5: 65,111,644 (GRCm39) V421A probably benign Het
Tmc3 T G 7: 83,264,218 (GRCm39) C649G probably damaging Het
Tnn A G 1: 159,948,122 (GRCm39) W864R probably damaging Het
Tsc2 A C 17: 24,822,254 (GRCm39) V1095G probably benign Het
Vmn1r124 C T 7: 20,994,172 (GRCm39) G124D probably damaging Het
Vmn2r116 T C 17: 23,606,138 (GRCm39) V350A probably benign Het
Vps13d A G 4: 144,832,468 (GRCm39) S2813P possibly damaging Het
Wrap53 T A 11: 69,454,758 (GRCm39) M204L possibly damaging Het
Zfp277 A G 12: 40,378,687 (GRCm39) V390A possibly damaging Het
Zfp687 A T 3: 94,918,987 (GRCm39) S262T probably benign Het
Zfp831 T A 2: 174,547,103 (GRCm39) S1429T probably benign Het
Other mutations in Znfx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Znfx1 APN 2 166,878,649 (GRCm39) missense possibly damaging 0.65
IGL00492:Znfx1 APN 2 166,878,843 (GRCm39) missense probably damaging 1.00
IGL01285:Znfx1 APN 2 166,880,615 (GRCm39) missense possibly damaging 0.76
IGL01343:Znfx1 APN 2 166,879,283 (GRCm39) missense probably benign 0.16
IGL01767:Znfx1 APN 2 166,897,643 (GRCm39) missense probably damaging 1.00
IGL01983:Znfx1 APN 2 166,898,270 (GRCm39) missense probably damaging 1.00
IGL02006:Znfx1 APN 2 166,897,683 (GRCm39) missense probably damaging 1.00
IGL02254:Znfx1 APN 2 166,897,643 (GRCm39) missense probably damaging 1.00
IGL02421:Znfx1 APN 2 166,902,000 (GRCm39) missense probably damaging 0.97
IGL02496:Znfx1 APN 2 166,889,550 (GRCm39) missense possibly damaging 0.83
IGL02525:Znfx1 APN 2 166,879,457 (GRCm39) missense probably benign 0.00
IGL02528:Znfx1 APN 2 166,892,324 (GRCm39) missense probably benign 0.11
IGL02537:Znfx1 APN 2 166,898,087 (GRCm39) missense probably benign 0.37
IGL03065:Znfx1 APN 2 166,897,685 (GRCm39) missense probably benign 0.00
raywing UTSW 2 166,879,738 (GRCm39) missense probably damaging 1.00
sharkfin UTSW 2 166,898,237 (GRCm39) missense probably benign 0.03
skate UTSW 2 166,880,137 (GRCm39) missense probably benign 0.06
R0127:Znfx1 UTSW 2 166,886,130 (GRCm39) missense possibly damaging 0.84
R0331:Znfx1 UTSW 2 166,888,898 (GRCm39) missense probably benign 0.11
R0488:Znfx1 UTSW 2 166,884,483 (GRCm39) missense possibly damaging 0.52
R0497:Znfx1 UTSW 2 166,897,331 (GRCm39) missense probably benign 0.03
R0537:Znfx1 UTSW 2 166,883,621 (GRCm39) missense probably damaging 1.00
R0542:Znfx1 UTSW 2 166,897,575 (GRCm39) missense probably damaging 1.00
R0650:Znfx1 UTSW 2 166,889,574 (GRCm39) nonsense probably null
R0655:Znfx1 UTSW 2 166,898,827 (GRCm39) missense probably damaging 1.00
R1104:Znfx1 UTSW 2 166,897,560 (GRCm39) nonsense probably null
R1470:Znfx1 UTSW 2 166,884,507 (GRCm39) missense possibly damaging 0.91
R1470:Znfx1 UTSW 2 166,884,507 (GRCm39) missense possibly damaging 0.91
R1512:Znfx1 UTSW 2 166,898,237 (GRCm39) missense probably benign 0.03
R1533:Znfx1 UTSW 2 166,898,708 (GRCm39) missense probably benign 0.10
R1541:Znfx1 UTSW 2 166,898,110 (GRCm39) missense probably damaging 0.99
R1642:Znfx1 UTSW 2 166,880,930 (GRCm39) missense possibly damaging 0.95
R1720:Znfx1 UTSW 2 166,885,986 (GRCm39) nonsense probably null
R1760:Znfx1 UTSW 2 166,881,786 (GRCm39) missense probably damaging 0.96
R1865:Znfx1 UTSW 2 166,880,729 (GRCm39) missense probably damaging 1.00
R1959:Znfx1 UTSW 2 166,892,270 (GRCm39) missense probably damaging 1.00
R2088:Znfx1 UTSW 2 166,897,730 (GRCm39) missense probably damaging 1.00
R4581:Znfx1 UTSW 2 166,892,236 (GRCm39) missense probably damaging 1.00
R4622:Znfx1 UTSW 2 166,883,673 (GRCm39) missense possibly damaging 0.91
R4649:Znfx1 UTSW 2 166,898,276 (GRCm39) missense probably benign 0.08
R4685:Znfx1 UTSW 2 166,880,950 (GRCm39) missense probably damaging 1.00
R4798:Znfx1 UTSW 2 166,880,489 (GRCm39) splice site probably null
R4827:Znfx1 UTSW 2 166,886,151 (GRCm39) missense possibly damaging 0.77
R4870:Znfx1 UTSW 2 166,897,189 (GRCm39) missense probably benign
R4910:Znfx1 UTSW 2 166,879,402 (GRCm39) missense probably benign 0.00
R4910:Znfx1 UTSW 2 166,878,724 (GRCm39) missense probably damaging 1.00
R5022:Znfx1 UTSW 2 166,881,746 (GRCm39) missense probably damaging 1.00
R5023:Znfx1 UTSW 2 166,881,746 (GRCm39) missense probably damaging 1.00
R5057:Znfx1 UTSW 2 166,881,746 (GRCm39) missense probably damaging 1.00
R5061:Znfx1 UTSW 2 166,907,318 (GRCm39) unclassified probably benign
R5125:Znfx1 UTSW 2 166,888,859 (GRCm39) missense possibly damaging 0.81
R5896:Znfx1 UTSW 2 166,880,920 (GRCm39) missense probably damaging 1.00
R6107:Znfx1 UTSW 2 166,879,001 (GRCm39) missense possibly damaging 0.67
R6112:Znfx1 UTSW 2 166,880,126 (GRCm39) missense probably benign
R6158:Znfx1 UTSW 2 166,898,646 (GRCm39) missense probably benign 0.19
R6281:Znfx1 UTSW 2 166,897,805 (GRCm39) missense probably damaging 1.00
R6464:Znfx1 UTSW 2 166,888,842 (GRCm39) missense probably benign 0.34
R6749:Znfx1 UTSW 2 166,898,519 (GRCm39) missense probably benign 0.00
R6888:Znfx1 UTSW 2 166,880,860 (GRCm39) missense possibly damaging 0.91
R6973:Znfx1 UTSW 2 166,898,681 (GRCm39) missense probably benign 0.18
R7017:Znfx1 UTSW 2 166,890,454 (GRCm39) missense probably damaging 1.00
R7138:Znfx1 UTSW 2 166,898,697 (GRCm39) missense probably benign 0.03
R7192:Znfx1 UTSW 2 166,884,110 (GRCm39) missense probably benign 0.00
R7426:Znfx1 UTSW 2 166,890,475 (GRCm39) missense probably damaging 1.00
R7431:Znfx1 UTSW 2 166,897,712 (GRCm39) missense probably damaging 1.00
R7473:Znfx1 UTSW 2 166,880,744 (GRCm39) missense probably damaging 1.00
R7593:Znfx1 UTSW 2 166,898,145 (GRCm39) missense probably benign 0.28
R7732:Znfx1 UTSW 2 166,884,589 (GRCm39) missense possibly damaging 0.91
R7835:Znfx1 UTSW 2 166,881,747 (GRCm39) missense probably damaging 1.00
R7993:Znfx1 UTSW 2 166,897,857 (GRCm39) nonsense probably null
R8154:Znfx1 UTSW 2 166,897,157 (GRCm39) missense probably damaging 1.00
R8351:Znfx1 UTSW 2 166,897,575 (GRCm39) missense probably damaging 1.00
R8790:Znfx1 UTSW 2 166,892,500 (GRCm39) intron probably benign
R8953:Znfx1 UTSW 2 166,897,421 (GRCm39) missense probably damaging 1.00
R9005:Znfx1 UTSW 2 166,880,656 (GRCm39) missense
R9131:Znfx1 UTSW 2 166,892,298 (GRCm39) missense probably benign
R9163:Znfx1 UTSW 2 166,898,261 (GRCm39) missense probably damaging 1.00
R9169:Znfx1 UTSW 2 166,897,185 (GRCm39) missense probably benign
R9181:Znfx1 UTSW 2 166,880,137 (GRCm39) missense probably benign 0.06
R9181:Znfx1 UTSW 2 166,879,738 (GRCm39) missense probably damaging 1.00
R9300:Znfx1 UTSW 2 166,897,860 (GRCm39) missense probably damaging 1.00
R9448:Znfx1 UTSW 2 166,888,844 (GRCm39) missense probably benign 0.04
R9569:Znfx1 UTSW 2 166,897,875 (GRCm39) missense
X0064:Znfx1 UTSW 2 166,897,176 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACCGGGCTTTGAATGGAG -3'
(R):5'- TTAACAGCATGAACAGAGCAGC -3'

Sequencing Primer
(F):5'- TGAACTCCTGAGGCGAGCATTG -3'
(R):5'- TGAACAGAGCAGCAAAAGCC -3'
Posted On 2016-06-15