Incidental Mutation 'R7648:Nfxl1'
ID 590631
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 045726-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R7648 (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 72680879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 747 (K747R)
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: K747R

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000084467
Gene: ENSMUSG00000072889
AA Change: K747R

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
Meta Mutation Damage Score 0.1077 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,261,886 (GRCm39) V46A possibly damaging Het
Asb13 C A 13: 3,699,332 (GRCm39) N177K probably damaging Het
Asprv1 A G 6: 86,605,852 (GRCm39) T233A probably damaging Het
Atad2b T A 12: 5,077,182 (GRCm39) probably null Het
Atxn2 G T 5: 121,934,440 (GRCm39) V880F probably damaging Het
Car14 T C 3: 95,805,507 (GRCm39) N322S probably benign Het
Cdc42bpb T C 12: 111,343,587 (GRCm39) E40G probably damaging Het
Ceacam16 G T 7: 19,586,203 (GRCm39) A103E unknown Het
Cnnm2 A G 19: 46,866,339 (GRCm39) D829G probably damaging Het
Cpt1b C T 15: 89,305,570 (GRCm39) A382T probably damaging Het
Crygc A G 1: 65,112,484 (GRCm39) F30S probably damaging Het
Cstf2t A G 19: 31,060,992 (GRCm39) Q176R possibly damaging Het
Ctif A T 18: 75,770,213 (GRCm39) H57Q probably benign Het
Cyp2c40 A G 19: 39,792,289 (GRCm39) *195Q probably null Het
Cyp2j8 T A 4: 96,387,840 (GRCm39) D207V probably damaging Het
Ddx49 A G 8: 70,750,605 (GRCm39) V123A possibly damaging Het
E4f1 A T 17: 24,664,422 (GRCm39) I456K probably benign Het
Eif4b T C 15: 101,997,435 (GRCm39) S317P unknown Het
Enam A T 5: 88,652,016 (GRCm39) Q1175L possibly damaging Het
Eppk1 T C 15: 75,994,871 (GRCm39) Y670C probably benign Het
Fam163b G T 2: 27,002,752 (GRCm39) Q82K probably benign Het
Fam193a A T 5: 34,588,526 (GRCm39) K358N probably damaging Het
Gls C A 1: 52,235,939 (GRCm39) R392L probably damaging Het
Gramd1c A G 16: 43,810,232 (GRCm39) V247A probably damaging Het
Gucy1a1 C T 3: 82,016,014 (GRCm39) E325K possibly damaging Het
Hectd4 T C 5: 121,392,434 (GRCm39) C233R possibly damaging Het
Ice1 A G 13: 70,737,916 (GRCm39) V2177A possibly damaging Het
Kif28 A G 1: 179,536,989 (GRCm39) V498A possibly damaging Het
Klhdc7a T C 4: 139,693,250 (GRCm39) S566G possibly damaging Het
Mlph G A 1: 90,861,248 (GRCm39) probably null Het
Mndal T A 1: 173,684,961 (GRCm39) Y536F probably benign Het
Mrgpra2a A T 7: 47,076,411 (GRCm39) C282* probably null Het
Msantd5 G A 11: 51,125,613 (GRCm39) E179K possibly damaging Het
Msh3 A T 13: 92,410,536 (GRCm39) I684N probably damaging Het
Mylk G C 16: 34,699,894 (GRCm39) S419T probably benign Het
Nup98 T G 7: 101,773,404 (GRCm39) H1641P possibly damaging Het
Or8b35 A C 9: 37,903,856 (GRCm39) T18P probably damaging Het
Pcm1 A G 8: 41,728,736 (GRCm39) N570D probably damaging Het
Plekhh1 T A 12: 79,101,905 (GRCm39) V325E probably benign Het
Rabl3 A T 16: 37,384,120 (GRCm39) I176F probably damaging Het
Relb T C 7: 19,353,767 (GRCm39) E37G possibly damaging Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Tars2 G A 3: 95,658,294 (GRCm39) T177I probably benign Het
Tenm2 T A 11: 35,997,563 (GRCm39) N842I probably damaging Het
Tmem175 A G 5: 108,792,432 (GRCm39) E236G possibly damaging Het
Trank1 A G 9: 111,220,753 (GRCm39) T2497A probably benign Het
Trf A G 9: 103,105,168 (GRCm39) V48A probably benign Het
Ttc28 A G 5: 111,331,258 (GRCm39) K493E possibly damaging Het
Unc50 T C 1: 37,470,402 (GRCm39) S9P probably benign Het
Uso1 T A 5: 92,341,861 (GRCm39) probably null Het
Usp49 A T 17: 47,985,753 (GRCm39) N487I possibly damaging Het
Xab2 T C 8: 3,660,638 (GRCm39) D768G probably benign Het
Xcr1 T C 9: 123,685,657 (GRCm39) E35G possibly 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
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
R8765:Nfxl1 UTSW 5 72,686,443 (GRCm39) missense probably benign
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'- GCACTGGAAGGTAACAGCAC -3'
(R):5'- TGTGGGGCTTACAGAAGTGC -3'

Sequencing Primer
(F):5'- GTAACAGCACCTCCTCCTTTCAAG -3'
(R):5'- ATCTAAGTCTAAGTATGTGGACGTG -3'
Posted On 2019-10-24