Incidental Mutation 'R8765:Nfxl1'
ID 667813
Institutional Source Beutler Lab
Gene Symbol Nfxl1
Ensembl Gene ENSMUSG00000072889
Gene Name nuclear transcription factor, X-box binding-like 1
Synonyms D430033A06Rik, LOC381696, 1700012H24Rik, TCF9
MMRRC Submission 068599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R8765 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 72670644-72717027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72686443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 586 (H586R)
Ref Sequence ENSEMBL: ENSMUSP00000084467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087216] [ENSMUST00000135318]
AlphaFold E9Q8I7
Predicted Effect probably benign
Transcript: ENSMUST00000087216
AA Change: H586R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084467
Gene: ENSMUSG00000072889
AA Change: H586R

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
low complexity region 25 64 N/A INTRINSIC
low complexity region 106 125 N/A INTRINSIC
low complexity region 134 142 N/A INTRINSIC
RING 167 226 4.99e-1 SMART
ZnF_NFX 272 290 2.83e-3 SMART
ZnF_NFX 325 344 1.42e-3 SMART
ZnF_NFX 378 397 2.88e-4 SMART
ZnF_NFX 431 450 5.01e-4 SMART
ZnF_NFX 458 479 1.67e2 SMART
ZnF_NFX 483 502 9.71e-2 SMART
ZnF_NFX 510 529 3.49e-3 SMART
ZnF_NFX 567 587 4.56e1 SMART
Pfam:zf-NF-X1 596 608 6.8e-3 PFAM
ZnF_NFX 677 710 4.23e1 SMART
ZnF_NFX 720 738 5.49e-1 SMART
ZnF_NFX 782 801 1.63e-3 SMART
coiled coil region 829 880 N/A INTRINSIC
transmembrane domain 897 914 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135318
SMART Domains Protein: ENSMUSP00000114355
Gene: ENSMUSG00000072889

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
low complexity region 25 64 N/A INTRINSIC
low complexity region 106 125 N/A INTRINSIC
low complexity region 134 142 N/A INTRINSIC
RING 167 226 4.99e-1 SMART
ZnF_NFX 272 290 2.83e-3 SMART
ZnF_NFX 325 344 1.42e-3 SMART
ZnF_NFX 378 397 2.88e-4 SMART
ZnF_NFX 431 450 5.01e-4 SMART
ZnF_NFX 458 479 1.67e2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik G A 2: 68,566,956 (GRCm39) D452N possibly damaging Het
Actr1a G T 19: 46,372,787 (GRCm39) probably benign Het
Alox15 A G 11: 70,240,819 (GRCm39) V187A probably benign Het
Alpk1 A T 3: 127,466,118 (GRCm39) N1129K probably damaging Het
Angptl1 A G 1: 156,684,727 (GRCm39) N299D probably benign Het
Ank2 T C 3: 126,850,731 (GRCm39) T128A possibly damaging Het
Armh4 C T 14: 49,920,100 (GRCm39) R743K probably damaging Het
Arsj G A 3: 126,232,781 (GRCm39) R509K probably benign Het
Atp6v0a2 G A 5: 124,793,534 (GRCm39) M630I probably damaging Het
BC107364 T C 3: 96,341,751 (GRCm39) H122R unknown Het
Bdh2 T C 3: 134,996,841 (GRCm39) M112T probably benign Het
C1qtnf3 G A 15: 10,952,843 (GRCm39) probably null Het
Cables1 T C 18: 12,056,422 (GRCm39) L326P probably benign Het
Cacna1c C A 6: 118,580,844 (GRCm39) A1769S Het
Cacna2d2 T C 9: 107,394,358 (GRCm39) L567P probably damaging Het
Cacnb4 C T 2: 52,327,001 (GRCm39) R399H probably damaging Het
Cacng4 A C 11: 107,625,976 (GRCm39) I205S probably damaging Het
Ciz1 A G 2: 32,260,895 (GRCm39) K269E probably damaging Het
Csf1 A G 3: 107,663,991 (GRCm39) V35A probably benign Het
Csmd1 G T 8: 16,760,627 (GRCm39) Y169* probably null Het
Ctnna1 T A 18: 35,384,293 (GRCm39) M756K probably damaging Het
Dnah7b T A 1: 46,392,159 (GRCm39) L3840Q possibly damaging Het
Fabp9 T C 3: 10,258,813 (GRCm39) *143W probably null Het
Fh1 C T 1: 175,435,378 (GRCm39) probably benign Het
Fmo2 T C 1: 162,707,966 (GRCm39) T390A probably benign Het
Fsip1 G T 2: 118,082,154 (GRCm39) D93E possibly damaging Het
Golga5 A G 12: 102,445,963 (GRCm39) D406G probably benign Het
Gucy2d C A 7: 98,108,347 (GRCm39) A760E probably benign Het
Hax1 T C 3: 89,904,780 (GRCm39) I141V probably benign Het
Hid1 T A 11: 115,239,786 (GRCm39) probably null Het
Hmcn1 C T 1: 150,556,413 (GRCm39) V2458I probably damaging Het
Igkv4-72 A G 6: 69,203,894 (GRCm39) V99A probably benign Het
Igkv5-39 G A 6: 69,877,915 (GRCm39) S16L probably benign Het
Ints4 T A 7: 97,151,016 (GRCm39) D294E possibly damaging Het
Lcn11 A G 2: 25,668,139 (GRCm39) Y99C probably damaging Het
Lrrc8b G A 5: 105,629,133 (GRCm39) R493H probably benign Het
Mon1b A T 8: 114,362,881 (GRCm39) D43V possibly damaging Het
Mrpl9 G A 3: 94,355,129 (GRCm39) V234I possibly damaging Het
Nek10 A T 14: 14,999,104 (GRCm38) E1034D probably damaging Het
Nit2 T A 16: 56,979,832 (GRCm39) D211V probably benign Het
Nle1 G A 11: 82,793,882 (GRCm39) R385C probably damaging Het
Or10ak12 T C 4: 118,666,159 (GRCm39) T301A probably benign Het
Or1i2 C T 10: 78,448,429 (GRCm39) M15I probably benign Het
Or2a25 T C 6: 42,889,102 (GRCm39) V215A probably benign Het
Or2ab1 G T 11: 58,488,785 (GRCm39) V182F possibly damaging Het
Or6ae1 T C 7: 139,742,467 (GRCm39) H132R probably benign Het
Or6c213 A G 10: 129,574,511 (GRCm39) Y92H probably damaging Het
Pcdh10 T C 3: 45,333,923 (GRCm39) I79T probably damaging Het
Peg10 A G 6: 4,754,492 (GRCm39) D91G unknown Het
Plec C T 15: 76,066,045 (GRCm39) A1342T unknown Het
Ppp2r3d A G 9: 124,439,649 (GRCm38) V68A Het
Pramel46 T C 5: 95,419,447 (GRCm39) M1V probably null Het
Psd3 A T 8: 68,416,093 (GRCm39) D315E possibly damaging Het
Rack1 A G 11: 48,694,286 (GRCm39) N162S probably benign Het
Slc12a8 C A 16: 33,338,731 (GRCm39) H11Q possibly damaging Het
Slc44a5 A T 3: 153,968,561 (GRCm39) D584V probably damaging Het
Spata18 T C 5: 73,825,992 (GRCm39) S100P Het
Stap2 G T 17: 56,310,145 (GRCm39) S53R probably damaging Het
Timeless T C 10: 128,080,412 (GRCm39) probably null Het
Tlk1 A T 2: 70,582,581 (GRCm39) S183T probably benign Het
Tpp2 T A 1: 44,011,849 (GRCm39) probably null Het
Ttn A T 2: 76,654,663 (GRCm39) probably benign Het
Uri1 A G 7: 37,696,145 (GRCm39) V40A probably benign Het
Vmn1r15 T C 6: 57,235,585 (GRCm39) V151A probably benign Het
Vmn1r198 A C 13: 22,539,269 (GRCm39) I252L probably damaging Het
Vmn2r101 T A 17: 19,809,245 (GRCm39) W125R probably damaging Het
Wdr89 A G 12: 75,679,688 (GRCm39) S189P probably damaging Het
Zfp1006 T C 8: 129,948,070 (GRCm39) D49G probably benign Het
Zfp873 T A 10: 81,896,072 (GRCm39) C268S probably damaging Het
Zfp932 T A 5: 110,154,827 (GRCm39) D8E probably benign Het
Zfyve16 T C 13: 92,658,055 (GRCm39) R619G probably benign Het
Zswim2 A T 2: 83,771,431 (GRCm39) I31N probably damaging Het
Other mutations in Nfxl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01094:Nfxl1 APN 5 72,707,771 (GRCm39) splice site probably benign
IGL01716:Nfxl1 APN 5 72,698,277 (GRCm39) missense probably damaging 1.00
IGL02592:Nfxl1 APN 5 72,671,572 (GRCm39) missense probably benign 0.25
IGL03083:Nfxl1 APN 5 72,698,005 (GRCm39) splice site probably benign
FR4548:Nfxl1 UTSW 5 72,716,458 (GRCm39) small insertion probably benign
FR4737:Nfxl1 UTSW 5 72,716,464 (GRCm39) small insertion probably benign
R0478:Nfxl1 UTSW 5 72,681,988 (GRCm39) critical splice donor site probably null
R0725:Nfxl1 UTSW 5 72,716,473 (GRCm39) missense probably benign
R1374:Nfxl1 UTSW 5 72,681,488 (GRCm39) missense probably benign 0.04
R1616:Nfxl1 UTSW 5 72,686,380 (GRCm39) missense probably benign 0.01
R1752:Nfxl1 UTSW 5 72,698,218 (GRCm39) missense probably damaging 1.00
R2108:Nfxl1 UTSW 5 72,671,675 (GRCm39) critical splice acceptor site probably null
R3081:Nfxl1 UTSW 5 72,686,378 (GRCm39) missense possibly damaging 0.92
R3693:Nfxl1 UTSW 5 72,697,954 (GRCm39) missense probably damaging 0.99
R3725:Nfxl1 UTSW 5 72,674,405 (GRCm39) missense probably damaging 1.00
R4660:Nfxl1 UTSW 5 72,710,011 (GRCm39) missense probably damaging 1.00
R5058:Nfxl1 UTSW 5 72,713,582 (GRCm39) missense probably benign 0.03
R5406:Nfxl1 UTSW 5 72,713,541 (GRCm39) missense possibly damaging 0.92
R5447:Nfxl1 UTSW 5 72,686,512 (GRCm39) missense probably benign 0.01
R5634:Nfxl1 UTSW 5 72,686,833 (GRCm39) missense probably damaging 1.00
R5831:Nfxl1 UTSW 5 72,679,540 (GRCm39) missense probably benign
R5910:Nfxl1 UTSW 5 72,697,708 (GRCm39) missense probably benign 0.05
R6086:Nfxl1 UTSW 5 72,698,362 (GRCm39) missense probably benign 0.39
R6091:Nfxl1 UTSW 5 72,671,533 (GRCm39) missense probably benign 0.00
R6212:Nfxl1 UTSW 5 72,673,553 (GRCm39) critical splice donor site probably null
R6501:Nfxl1 UTSW 5 72,685,852 (GRCm39) splice site probably null
R6521:Nfxl1 UTSW 5 72,697,651 (GRCm39) splice site probably null
R7283:Nfxl1 UTSW 5 72,686,393 (GRCm39) missense probably benign
R7426:Nfxl1 UTSW 5 72,681,517 (GRCm39) nonsense probably null
R7480:Nfxl1 UTSW 5 72,716,595 (GRCm39) nonsense probably null
R7648:Nfxl1 UTSW 5 72,680,879 (GRCm39) missense probably benign 0.12
R7817:Nfxl1 UTSW 5 72,671,632 (GRCm39) missense possibly damaging 0.89
R7899:Nfxl1 UTSW 5 72,681,558 (GRCm39) missense probably damaging 1.00
R8186:Nfxl1 UTSW 5 72,716,355 (GRCm39) critical splice donor site probably null
R8468:Nfxl1 UTSW 5 72,675,548 (GRCm39) missense possibly damaging 0.95
R8969:Nfxl1 UTSW 5 72,716,473 (GRCm39) missense unknown
R9330:Nfxl1 UTSW 5 72,681,451 (GRCm39) missense probably benign 0.00
R9385:Nfxl1 UTSW 5 72,694,750 (GRCm39) missense probably benign 0.13
R9419:Nfxl1 UTSW 5 72,716,641 (GRCm39) intron probably benign
R9496:Nfxl1 UTSW 5 72,685,502 (GRCm39) missense possibly damaging 0.81
Z1176:Nfxl1 UTSW 5 72,695,493 (GRCm39) missense probably null 0.89
Predicted Primers PCR Primer
(F):5'- TGCTTAGCACTGTAAAGACACC -3'
(R):5'- TTCCACAGCCCAACATCTGATG -3'

Sequencing Primer
(F):5'- CCTCACAGCCAAGTATTCTC -3'
(R):5'- GCCCAACATCTGATGTCTTAAC -3'
Posted On 2021-03-08