Incidental Mutation 'R4685:Znfx1'
ID 353591
Institutional Source Beutler Lab
Gene Symbol Znfx1
Ensembl Gene ENSMUSG00000039501
Gene Name zinc finger, NFX1-type containing 1
Synonyms
MMRRC Submission 041936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4685 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 166877713-166904935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 166880950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 278 (Y278F)
Ref Sequence ENSEMBL: ENSMUSP00000072867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018143] [ENSMUST00000048988] [ENSMUST00000067584]
AlphaFold Q8R151
Predicted Effect probably benign
Transcript: ENSMUST00000018143
SMART Domains Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
coiled coil region 78 106 N/A INTRINSIC
low complexity region 133 148 N/A INTRINSIC
low complexity region 157 166 N/A INTRINSIC
DEXDc 203 404 2.24e-56 SMART
HELICc 443 524 1.71e-29 SMART
coiled coil region 577 613 N/A INTRINSIC
low complexity region 622 629 N/A INTRINSIC
low complexity region 644 657 N/A INTRINSIC
low complexity region 679 692 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000048988
AA Change: Y1142F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: Y1142F

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 probably damaging
Transcript: ENSMUST00000067584
AA Change: Y278F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501
AA Change: Y278F

DomainStartEndE-ValueType
Pfam:AAA_11 8 170 1.2e-17 PFAM
Pfam:AAA_12 180 364 7.4e-42 PFAM
internal_repeat_2 417 510 1.08e-6 PROSPERO
internal_repeat_1 428 546 1.81e-14 PROSPERO
low complexity region 558 569 N/A INTRINSIC
internal_repeat_1 570 683 1.81e-14 PROSPERO
internal_repeat_2 589 691 1.08e-6 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127468
Meta Mutation Damage Score 0.2476 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (71/73)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T C 12: 17,057,185 (GRCm39) D104G probably damaging Het
2810021J22Rik T C 11: 58,771,750 (GRCm39) S411P probably damaging Het
Adcy2 T C 13: 68,876,024 (GRCm39) R493G probably benign Het
Adcy8 A G 15: 64,609,287 (GRCm39) I874T probably benign Het
Ano2 G T 6: 125,957,087 (GRCm39) E619* probably null Het
Apob A G 12: 8,056,456 (GRCm39) K1613R probably benign Het
Arhgef10 T A 8: 15,006,963 (GRCm39) F476Y probably damaging Het
Bmf G A 2: 118,377,283 (GRCm39) A74V probably damaging Het
Cadps T C 14: 12,467,139 (GRCm38) E925G possibly damaging Het
Ccdc162 T C 10: 41,557,682 (GRCm39) D181G possibly damaging Het
Ccdc85c A T 12: 108,173,434 (GRCm39) C387S probably benign Het
Cntnap5a T C 1: 116,374,410 (GRCm39) V974A possibly damaging Het
Cplx3 T A 9: 57,516,483 (GRCm39) I407F probably damaging Het
Dnah7b T C 1: 46,250,488 (GRCm39) F1703S probably damaging Het
Dsg3 C A 18: 20,672,793 (GRCm39) D821E probably benign Het
Ecel1 G T 1: 87,080,668 (GRCm39) probably null Het
Edn1 A T 13: 42,458,729 (GRCm39) probably null Het
Egfr G A 11: 16,808,980 (GRCm39) C58Y probably damaging Het
Fam184a T C 10: 53,574,596 (GRCm39) N282D probably benign Het
Fhit T A 14: 9,870,091 (GRCm38) Q63L probably damaging Het
Gabarapl2 T C 8: 112,669,150 (GRCm39) V36A probably benign Het
Glis1 T C 4: 107,424,842 (GRCm39) V151A probably benign Het
Gm12695 A G 4: 96,650,217 (GRCm39) S210P probably damaging Het
Gpat4 TAGAAGA TAGA 8: 23,672,865 (GRCm39) probably benign Het
H2-M10.4 G A 17: 36,772,688 (GRCm39) A98V probably benign Het
Hhat C A 1: 192,277,362 (GRCm39) G366C probably damaging Het
Hydin C A 8: 111,189,154 (GRCm39) A1186E probably damaging Het
Itgb2 T A 10: 77,385,937 (GRCm39) probably null Het
Kank1 C T 19: 25,387,398 (GRCm39) A329V possibly damaging Het
Kdm4b T A 17: 56,708,675 (GRCm39) S1070T probably benign Het
Kyat1 A G 2: 30,078,277 (GRCm39) Y101H probably damaging Het
Map4k5 T C 12: 69,858,140 (GRCm39) K679R probably benign Het
Mill1 A T 7: 17,989,853 (GRCm39) D45V probably damaging Het
Myo3a T A 2: 22,412,233 (GRCm39) Y743N probably damaging Het
Nox4 C G 7: 86,946,716 (GRCm39) I137M probably benign Het
Odf4 A G 11: 68,813,665 (GRCm39) probably null Het
Ostf1 A T 19: 18,558,652 (GRCm39) D210E probably damaging Het
Paxip1 A T 5: 27,966,675 (GRCm39) probably null Het
Pitrm1 A G 13: 6,606,578 (GRCm39) T211A probably benign Het
Pla2g4f A G 2: 120,135,496 (GRCm39) S393P probably damaging Het
Plppr3 T C 10: 79,703,359 (GRCm39) T42A probably damaging Het
Plxna4 C A 6: 32,142,779 (GRCm39) G1559W probably damaging Het
Ppp1r13l T C 7: 19,109,308 (GRCm39) probably null Het
Prex1 C T 2: 166,480,252 (GRCm39) V163M probably damaging Het
Prl6a1 A G 13: 27,500,307 (GRCm39) T93A probably benign Het
Psg16 T C 7: 16,824,459 (GRCm39) V81A probably benign Het
Rbm33 A T 5: 28,613,280 (GRCm39) probably benign Het
Rest C T 5: 77,423,090 (GRCm39) P298L possibly damaging Het
Rhobtb3 G A 13: 76,027,051 (GRCm39) R441* probably null Het
Rims4 T A 2: 163,706,914 (GRCm39) K155* probably null Het
Rps6kb1 C T 11: 86,410,713 (GRCm39) probably null Het
Ryr2 T C 13: 11,707,532 (GRCm39) D2835G probably damaging Het
Sc5d C T 9: 42,169,946 (GRCm39) V92I probably benign Het
Sell A T 1: 163,893,829 (GRCm39) I175F probably damaging Het
Serpinb6d A G 13: 33,855,211 (GRCm39) D295G probably damaging Het
Sphk1 A G 11: 116,426,106 (GRCm39) D96G probably damaging Het
Spns3 A T 11: 72,428,096 (GRCm39) V228D probably damaging Het
Sspo A G 6: 48,469,828 (GRCm39) S4500G probably damaging Het
Syt9 T A 7: 107,035,678 (GRCm39) C232S possibly damaging Het
Terf1 A G 1: 15,889,185 (GRCm39) I176V possibly damaging Het
Tln2 C T 9: 67,209,854 (GRCm39) A428T probably damaging Het
Tmprss7 T C 16: 45,499,711 (GRCm39) N321S probably benign Het
Tomm40 A G 7: 19,435,761 (GRCm39) I323T probably benign Het
Try5 T A 6: 41,288,233 (GRCm39) Q240L possibly damaging Het
Vmn1r213 A T 13: 23,195,800 (GRCm39) I128L probably benign Het
Vmn2r80 T C 10: 79,030,162 (GRCm39) F663L possibly damaging Het
Zpbp2 A G 11: 98,442,117 (GRCm39) 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
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
R5119:Znfx1 UTSW 2 166,907,307 (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'- GCAGTACATCCCCTTCTTGG -3'
(R):5'- AGTGTCCAGAGATGACGTGC -3'

Sequencing Primer
(F):5'- ATCTGCAGGAAGCCCACCTTG -3'
(R):5'- TGCACAGCACGGGTGAG -3'
Posted On 2015-10-21