Incidental Mutation 'R7732:Znfx1'
ID 595887
Institutional Source Beutler Lab
Gene Symbol Znfx1
Ensembl Gene ENSMUSG00000039501
Gene Name zinc finger, NFX1-type containing 1
Synonyms
MMRRC Submission 045788-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7732 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 166877713-166904935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 166884589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 888 (K888E)
Ref Sequence ENSEMBL: ENSMUSP00000049404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048988] [ENSMUST00000067584] [ENSMUST00000128676] [ENSMUST00000155281]
AlphaFold Q8R151
Predicted Effect possibly damaging
Transcript: ENSMUST00000048988
AA Change: K888E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: K888E

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 possibly damaging
Transcript: ENSMUST00000067584
AA Change: K24E

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501
AA Change: K24E

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 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 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 0.0962 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,075,451 (GRCm39) S121T possibly damaging Het
Alpk1 T C 3: 127,478,041 (GRCm39) M69V Het
Ap3m2 G T 8: 23,287,105 (GRCm39) D192E probably benign Het
Arel1 A G 12: 84,974,663 (GRCm39) V493A probably benign Het
Arhgap27 T C 11: 103,230,869 (GRCm39) H140R probably benign Het
Bcat2 C T 7: 45,234,617 (GRCm39) T166M possibly damaging Het
Brd4 C A 17: 32,440,386 (GRCm39) A318S unknown Het
Cabp4 T A 19: 4,185,994 (GRCm39) T270S probably benign Het
Cd22 G A 7: 30,569,482 (GRCm39) R545C probably damaging Het
Cdc23 C A 18: 34,769,755 (GRCm39) probably null Het
Chst4 G A 8: 110,756,514 (GRCm39) Q450* probably null Het
Ctsc G A 7: 87,946,367 (GRCm39) R132Q probably damaging Het
Cyp2b19 A G 7: 26,470,769 (GRCm39) D470G possibly damaging Het
Dcc C T 18: 71,579,506 (GRCm39) G689D probably benign Het
Disc1 G T 8: 125,977,714 (GRCm39) G779* probably null Het
Dock1 T G 7: 134,346,699 (GRCm39) D210E probably benign Het
Dynlt1a A G 17: 6,365,220 (GRCm39) V14A probably benign Het
Dynlt2a3 A G 17: 15,187,947 (GRCm39) V109A probably benign Het
Epha10 A G 4: 124,809,092 (GRCm39) D779G Het
Eprs1 A G 1: 185,105,136 (GRCm39) H137R probably benign Het
Eps15l1 A C 8: 73,134,820 (GRCm39) L447R probably damaging Het
Esyt1 A G 10: 128,357,694 (GRCm39) probably null Het
Fam221a A G 6: 49,349,563 (GRCm39) K43E probably benign Het
Fanci A G 7: 79,062,400 (GRCm39) S309G possibly damaging Het
Fbxo48 T A 11: 16,903,601 (GRCm39) W76R probably damaging Het
Fgd4 A G 16: 16,302,459 (GRCm39) V32A probably benign Het
Foxe1 A T 4: 46,345,287 (GRCm39) D365V unknown Het
Gabrd C T 4: 155,470,075 (GRCm39) R378H probably benign Het
Greb1 A G 12: 16,723,864 (GRCm39) S1862P probably damaging Het
H2al2b T C Y: 2,720,436 (GRCm39) H80R possibly damaging Het
Hectd4 T C 5: 121,474,692 (GRCm39) V2771A probably benign Het
Hoxa11 A T 6: 52,220,415 (GRCm39) F289L probably damaging Het
Hsp90aa1 A G 12: 110,659,852 (GRCm39) V412A probably damaging Het
Igsf11 A G 16: 38,829,160 (GRCm39) Q77R probably damaging Het
Lrig1 C A 6: 94,603,358 (GRCm39) M263I probably benign Het
Ms4a14 C T 19: 11,279,047 (GRCm39) M1170I probably benign Het
Ndufs7 G A 10: 80,089,618 (GRCm39) probably null Het
Nectin4 A T 1: 171,214,246 (GRCm39) E467V probably benign Het
Or8d1b A G 9: 38,887,560 (GRCm39) E196G probably damaging Het
Otogl G A 10: 107,642,525 (GRCm39) H1302Y probably benign Het
Pigg A G 5: 108,466,841 (GRCm39) S241G probably benign Het
Pip4p1 C T 14: 51,168,090 (GRCm39) G48D possibly damaging Het
Pom121l12 T A 11: 14,549,843 (GRCm39) V183D probably damaging Het
Prickle2 T A 6: 92,388,205 (GRCm39) E455V probably damaging Het
Ptpn4 A C 1: 119,620,532 (GRCm39) V488G probably benign Het
Ranbp10 A G 8: 106,499,723 (GRCm39) I502T probably benign Het
Raph1 T A 1: 60,572,447 (GRCm39) Q40L possibly damaging Het
Rgs22 A T 15: 36,026,127 (GRCm39) C1056S probably damaging Het
Serpinb6b G A 13: 33,152,590 (GRCm39) S33N probably damaging Het
Serpinb6d A G 13: 33,853,082 (GRCm39) N158S probably benign Het
Serping1 A T 2: 84,600,448 (GRCm39) V298D probably damaging Het
Sgsm1 T A 5: 113,414,196 (GRCm39) H637L probably benign Het
Sh3rf2 G T 18: 42,234,753 (GRCm39) V179L probably damaging Het
Slc1a3 T C 15: 8,680,472 (GRCm39) T129A probably benign Het
Slit1 T A 19: 41,592,847 (GRCm39) Y1202F probably benign Het
Spsb2 T C 6: 124,786,656 (GRCm39) S130P probably damaging Het
Sulf1 A G 1: 12,913,013 (GRCm39) D749G probably benign Het
Taok3 A G 5: 117,331,813 (GRCm39) E10G possibly damaging Het
Tbl3 G T 17: 24,923,136 (GRCm39) A368D probably benign Het
Tdh T A 14: 63,733,507 (GRCm39) H127L probably damaging Het
Tmem205 C A 9: 21,838,703 (GRCm39) probably null Het
Tmem30a A C 9: 79,687,826 (GRCm39) F114L possibly damaging Het
Tmprss15 T C 16: 78,800,308 (GRCm39) K607E probably benign Het
Tnxb A T 17: 34,913,254 (GRCm39) D1756V probably damaging Het
Trhde A G 10: 114,623,969 (GRCm39) F312L probably benign Het
Ttn G A 2: 76,656,793 (GRCm39) P12494L probably null Het
Vmn2r61 A G 7: 41,916,097 (GRCm39) R237G probably benign Het
Vps13c A T 9: 67,847,798 (GRCm39) N2187Y probably damaging Het
Wdr64 A G 1: 175,617,495 (GRCm39) T692A probably benign Het
Whamm A G 7: 81,221,172 (GRCm39) N35D probably damaging Het
Wnt2 T C 6: 18,023,335 (GRCm39) S105G probably damaging Het
Zfp108 T A 7: 23,960,952 (GRCm39) H514Q probably benign Het
Zftraf1 C T 15: 76,532,386 (GRCm39) D241N probably benign Het
Zzz3 T C 3: 152,154,479 (GRCm39) Y577H probably damaging 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
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
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'- TGCCCAATCTGACCCATCCTAG -3'
(R):5'- ACCCTAGGTCACATCACTTGAG -3'

Sequencing Primer
(F):5'- CTAGGGACCAGACAGAATTCCATG -3'
(R):5'- CTAGGTCACATCACTTGAGAAGAGTC -3'
Posted On 2019-11-12