Incidental Mutation 'R6501:Nfxl1'
ID 543450
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 044633-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R6501 (G1)
Quality Score 45.0072
Status Validated
Chromosome 5
Chromosomal Location 72670644-72717027 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 72685852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000084467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087216]
AlphaFold E9Q8I7
Predicted Effect probably null
Transcript: ENSMUST00000087216
SMART Domains Protein: ENSMUSP00000084467
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
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,914,165 (GRCm39) C154* probably null Het
Ada A G 2: 163,570,108 (GRCm39) probably null Het
Birc6 G A 17: 74,886,276 (GRCm39) V535I probably damaging Het
Bptf T C 11: 106,968,509 (GRCm39) N1058S probably null Het
Cdadc1 C T 14: 59,823,898 (GRCm39) C198Y probably benign Het
Chrna7 G A 7: 62,755,863 (GRCm39) R228C probably damaging Het
Cts6 T C 13: 61,344,149 (GRCm39) N301S probably damaging Het
Cts8 T A 13: 61,398,756 (GRCm39) D250V probably damaging Het
Cyp26a1 G T 19: 37,687,518 (GRCm39) R235L possibly damaging Het
Disc1 A T 8: 125,944,844 (GRCm39) M598L probably benign Het
Ear6 T A 14: 52,091,681 (GRCm39) V76D possibly damaging Het
Grifin A G 5: 140,549,036 (GRCm39) *145R probably null Het
Htr2b T G 1: 86,038,363 (GRCm39) E11A probably damaging Het
Krtap4-9 T A 11: 99,676,255 (GRCm39) probably benign Het
Larp4b A C 13: 9,218,829 (GRCm39) H522P probably damaging Het
Macf1 A T 4: 123,363,425 (GRCm39) probably null Het
Mdfic T C 6: 15,770,516 (GRCm39) L174P possibly damaging Het
Mmp17 A G 5: 129,683,469 (GRCm39) E535G probably benign Het
Nynrin A T 14: 56,100,989 (GRCm39) T260S probably benign Het
Or4k44 C T 2: 111,368,124 (GRCm39) G170D probably damaging Het
Or7e168 A T 9: 19,720,271 (GRCm39) Y219F possibly damaging Het
Or8b1c A T 9: 38,384,585 (GRCm39) I181F possibly damaging Het
Pbx1 G T 1: 168,037,103 (GRCm39) D109E probably damaging Het
Pde4d A T 13: 109,253,476 (GRCm39) H101L probably benign Het
Pdlim3 T C 8: 46,361,639 (GRCm39) I155T possibly damaging Het
Plekha5 T A 6: 140,471,655 (GRCm39) Y26* probably null Het
Prpf6 T A 2: 181,263,713 (GRCm39) L191* probably null Het
Rabl6 A G 2: 25,492,459 (GRCm39) V80A possibly damaging Het
Rp1 T C 1: 4,381,503 (GRCm39) probably benign Het
Sec14l1 A G 11: 117,047,676 (GRCm39) S698G probably damaging Het
Skic2 A G 17: 35,063,412 (GRCm39) S622P possibly damaging Het
Slc19a1 G A 10: 76,885,440 (GRCm39) G447S probably benign Het
Slc2a6 A T 2: 26,913,143 (GRCm39) Y383* probably null Het
Slc9a9 C A 9: 94,818,424 (GRCm39) Q273K probably benign Het
Spint2 A G 7: 28,963,131 (GRCm39) Y56H probably damaging Het
Sspo T A 6: 48,472,146 (GRCm39) M123K possibly damaging Het
Syne2 A G 12: 76,074,621 (GRCm39) probably null Het
Trdn A C 10: 33,342,450 (GRCm39) K619N probably benign Het
Ttll13 A G 7: 79,899,924 (GRCm39) T119A possibly damaging Het
Ttn T C 2: 76,615,990 (GRCm39) Y8324C probably damaging Het
Ttn T C 2: 76,728,602 (GRCm39) probably benign Het
Vav2 A G 2: 27,186,231 (GRCm39) L208P probably damaging Het
Vmn1r179 A G 7: 23,628,342 (GRCm39) I178V probably benign Het
Vmn1r210 T C 13: 23,011,705 (GRCm39) M194V possibly damaging Het
Vmn2r103 A T 17: 20,032,166 (GRCm39) T647S probably benign Het
Wdr49 T A 3: 75,246,765 (GRCm39) H289L probably benign Het
Wnk2 T G 13: 49,300,159 (GRCm39) K184Q probably damaging Het
Zfp758 A G 17: 22,590,978 (GRCm39) probably benign 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
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
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'- CGTCAAGTCAGAAGGGCTATC -3'
(R):5'- TCCTTCAAGTATGGCCAGAAG -3'

Sequencing Primer
(F):5'- TCTAGGGAAACAGACCTCTTGCTC -3'
(R):5'- CCTTCAAGTATGGCCAGAAGTATAG -3'
Posted On 2018-12-26