Incidental Mutation 'R8186:Nfxl1'
ID 634860
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 067609-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R8186 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 72670644-72717027 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 72716355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000074481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074948] [ENSMUST00000087216] [ENSMUST00000135318]
AlphaFold E9Q8I7
Predicted Effect probably null
Transcript: ENSMUST00000074948
SMART Domains Protein: ENSMUSP00000074481
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
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
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: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 G A 6: 86,085,002 (GRCm39) V543M probably benign Het
Agl A G 3: 116,552,557 (GRCm39) I459T possibly damaging Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Atg16l2 C T 7: 100,945,714 (GRCm39) probably null Het
Bltp2 A G 11: 78,177,457 (GRCm39) T1921A probably damaging Het
C130073F10Rik G A 4: 101,748,031 (GRCm39) R48* probably null Het
Cdc25b C T 2: 131,031,050 (GRCm39) T125M probably benign Het
Cdc42bpg T A 19: 6,356,895 (GRCm39) F50L probably damaging Het
Chd9 T A 8: 91,725,233 (GRCm39) D1187E unknown Het
Col4a2 T C 8: 11,475,542 (GRCm39) probably null Het
Cped1 T C 6: 22,123,587 (GRCm39) S447P probably benign Het
Ddx19a T A 8: 111,710,274 (GRCm39) M109L probably benign Het
Def8 C A 8: 124,188,215 (GRCm39) Y431* probably null Het
Gata4 A G 14: 63,438,962 (GRCm39) S373P probably benign Het
Gm9837 A T 11: 53,361,136 (GRCm39) L26* probably null Het
Hspa1b A T 17: 35,176,557 (GRCm39) V476E probably damaging Het
Htr5b G A 1: 121,456,108 (GRCm39) probably benign Het
Hydin T C 8: 111,336,277 (GRCm39) V5018A probably benign Het
Ighv1-85 A G 12: 115,963,923 (GRCm39) S26P probably benign Het
Kics2 T A 10: 121,581,247 (GRCm39) F83I possibly damaging Het
Lrrc2 A G 9: 110,789,910 (GRCm39) K56E possibly damaging Het
Macf1 A T 4: 123,266,219 (GRCm39) I6793N probably damaging Het
Macf1 A C 4: 123,275,923 (GRCm39) V6215G possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Odad4 A G 11: 100,454,505 (GRCm39) D430G probably benign Het
Oprk1 A T 1: 5,672,540 (GRCm39) M226L probably benign Het
Or1e1 T C 11: 73,245,247 (GRCm39) S223P possibly damaging Het
Phf2 A G 13: 48,961,227 (GRCm39) L821P unknown Het
Rdh7 C A 10: 127,723,284 (GRCm39) probably null Het
Rpl11 A G 4: 135,778,968 (GRCm39) V74A possibly damaging Het
Safb2 G A 17: 56,873,051 (GRCm39) R790C possibly damaging Het
Sgpp2 T C 1: 78,393,609 (GRCm39) F204S probably benign Het
Sgsm3 A C 15: 80,893,643 (GRCm39) I426L possibly damaging Het
Speer1b A G 5: 11,823,926 (GRCm39) D158G probably damaging Het
Styxl2 A G 1: 165,927,648 (GRCm39) S655P probably damaging Het
Tbccd1 A G 16: 22,637,189 (GRCm39) L545P probably damaging Het
Toporsl T A 4: 52,610,489 (GRCm39) F127L probably damaging Het
Ttn T G 2: 76,749,256 (GRCm39) Q3931P probably damaging Het
Tuba1c C A 15: 98,935,396 (GRCm39) L286I probably benign Het
Usp48 A G 4: 137,348,507 (GRCm39) R528G possibly damaging Het
Utrn T C 10: 12,573,867 (GRCm39) T1068A probably benign Het
Vmn2r103 A T 17: 20,032,205 (GRCm39) T660S probably damaging Het
Vmn2r105 G T 17: 20,444,880 (GRCm39) Y537* probably null Het
Vmn2r88 A T 14: 51,656,157 (GRCm39) I744F Het
Wnt9b T C 11: 103,621,601 (GRCm39) E352G probably damaging Het
Zfp78 A G 7: 6,376,228 (GRCm39) N46D 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
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'- CTGCACACAATTGAAGAAAGTGAC -3'
(R):5'- CAGGAAATGGAGTCCCTTTTGG -3'

Sequencing Primer
(F):5'- TATCAATTAAAATGAGGATGCAAGCG -3'
(R):5'- AGTCCCTTTTGGTGGCGC -3'
Posted On 2020-07-13