Incidental Mutation 'R9496:Nfxl1'
ID 717212
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R9496 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 72670644-72717027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72685502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 646 (V646E)
Ref Sequence ENSEMBL: ENSMUSP00000084467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087216] [ENSMUST00000135318]
AlphaFold E9Q8I7
Predicted Effect possibly damaging
Transcript: ENSMUST00000087216
AA Change: V646E

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084467
Gene: ENSMUSG00000072889
AA Change: V646E

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: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2a A T 19: 6,310,022 (GRCm39) Q1735L possibly damaging Het
Brpf3 A G 17: 29,040,453 (GRCm39) D958G probably benign Het
Cacna1g A G 11: 94,356,711 (GRCm39) F142L probably benign Het
Calcoco1 C T 15: 102,619,876 (GRCm39) A303T probably benign Het
Chat C A 14: 32,148,119 (GRCm39) C306F probably benign Het
Ciita T G 16: 10,298,009 (GRCm39) M1R probably null Het
Ckap2l A C 2: 129,112,595 (GRCm39) S638A probably benign Het
Coro1c C T 5: 113,983,337 (GRCm39) G397D probably benign Het
Cyb5r2 A G 7: 107,353,954 (GRCm39) V72A probably damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dcbld2 A G 16: 58,271,164 (GRCm39) T314A probably benign Het
Dcun1d4 T G 5: 73,668,272 (GRCm39) H37Q probably damaging Het
Dgkd T A 1: 87,857,464 (GRCm39) S725R probably benign Het
Dhx29 T C 13: 113,089,460 (GRCm39) Y744H probably damaging Het
Ect2l T C 10: 18,004,885 (GRCm39) N916S probably damaging Het
Ep400 T C 5: 110,855,853 (GRCm39) K1287E unknown Het
Epo C T 5: 137,482,401 (GRCm39) V89I probably benign Het
Fbxw15 A T 9: 109,397,291 (GRCm39) I3N probably benign Het
Fcgr3 A C 1: 170,879,386 (GRCm39) Y219D possibly damaging Het
Fign A T 2: 63,809,253 (GRCm39) C672* probably null Het
Fsip2 A T 2: 82,793,062 (GRCm39) R406S probably benign Het
Gli2 A G 1: 118,764,425 (GRCm39) V1242A probably benign Het
Gm10577 C T 4: 100,877,745 (GRCm39) C50Y unknown Het
Gm11568 GCTGCTGCCAGCCCTGCTGCCAGCCC GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC 11: 99,749,044 (GRCm39) probably benign Het
Grid1 T C 14: 35,291,571 (GRCm39) L826P probably damaging Het
Hmcn1 T C 1: 150,579,971 (GRCm39) D1922G probably benign Het
Itga2b C T 11: 102,358,629 (GRCm39) C96Y probably damaging Het
Itih2 A T 2: 10,106,984 (GRCm39) I670N probably benign Het
Lypla1 A T 1: 4,898,813 (GRCm39) probably benign Het
Mettl16 T C 11: 74,707,696 (GRCm39) S337P possibly damaging Het
Myh11 G A 16: 14,048,616 (GRCm39) Q564* probably null Het
Myrf A G 19: 10,193,840 (GRCm39) F529L probably benign Het
Nell2 T G 15: 95,194,097 (GRCm39) I539L probably benign Het
Nin T C 12: 70,102,762 (GRCm39) T289A Het
Obsl1 C T 1: 75,467,484 (GRCm39) C1430Y probably damaging Het
Otog T C 7: 45,890,505 (GRCm39) L18P unknown Het
Pkd1l1 C A 11: 8,783,773 (GRCm39) probably null Het
Pum1 T C 4: 130,446,664 (GRCm39) probably null Het
Rhbdl1 A T 17: 26,055,371 (GRCm39) probably null Het
Rmdn2 T A 17: 79,975,425 (GRCm39) L305I possibly damaging Het
Scn3a A G 2: 65,312,493 (GRCm39) probably null Het
Shtn1 G T 19: 58,963,457 (GRCm39) S619R probably damaging Het
Smpd1 G A 7: 105,205,202 (GRCm39) probably null Het
Tepsin A G 11: 119,982,357 (GRCm39) L571S probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tssk5 T C 15: 76,258,856 (GRCm39) D10G probably benign Het
Usp39 A G 6: 72,302,759 (GRCm39) Y432H probably benign Het
Vmn2r97 T A 17: 19,149,227 (GRCm39) V205D probably damaging Het
Vwa8 T C 14: 79,258,122 (GRCm39) V757A probably benign Het
Zc2hc1b A T 10: 13,044,540 (GRCm39) F41Y probably damaging Het
Zfp1007 A G 5: 109,823,924 (GRCm39) S509P probably damaging Het
Zfp114 A T 7: 23,880,463 (GRCm39) S271C 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
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
Z1176:Nfxl1 UTSW 5 72,695,493 (GRCm39) missense probably null 0.89
Predicted Primers PCR Primer
(F):5'- TCTGGAGAGCTAAGGACAGTAC -3'
(R):5'- TTCAGCCTGTGTGAGCAAGAG -3'

Sequencing Primer
(F):5'- GAGCTAAGGACAGTACACTCTAGC -3'
(R):5'- AGCAAGAGGTCTGTTTCCCTAGATTC -3'
Posted On 2022-07-18