Incidental Mutation 'R5406:Nfxl1'
ID 426272
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 042976-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R5406 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 72670644-72717027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72713541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 134 (T134I)
Ref Sequence ENSEMBL: ENSMUSP00000074481 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074948] [ENSMUST00000087216] [ENSMUST00000135318]
AlphaFold E9Q8I7
Predicted Effect possibly damaging
Transcript: ENSMUST00000074948
AA Change: T134I

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074481
Gene: ENSMUSG00000072889
AA Change: T134I

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 possibly damaging
Transcript: ENSMUST00000087216
AA Change: T134I

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000084467
Gene: ENSMUSG00000072889
AA Change: T134I

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 noncoding transcript
Transcript: ENSMUST00000134452
Predicted Effect probably benign
Transcript: ENSMUST00000135318
AA Change: T134I

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114355
Gene: ENSMUSG00000072889
AA Change: T134I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198977
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,387 (GRCm39) V17D probably damaging Het
Abcb1a C A 5: 8,752,946 (GRCm39) Q566K probably damaging Het
Adam26a A T 8: 44,022,141 (GRCm39) C450S probably damaging Het
Adar C T 3: 89,643,418 (GRCm39) P433L probably damaging Het
Aldh1a2 G T 9: 71,162,403 (GRCm39) A151S possibly damaging Het
Arsk T A 13: 76,242,066 (GRCm39) H69L probably benign Het
Atf6b T A 17: 34,872,771 (GRCm39) Y600* probably null Het
Blk C A 14: 63,618,180 (GRCm39) G242V probably damaging Het
Bmt2 A T 6: 13,677,831 (GRCm39) M1K probably null Het
Catsperg1 G A 7: 28,884,948 (GRCm39) T891M probably damaging Het
Ccdc32 A C 2: 118,852,560 (GRCm39) S131A possibly damaging Het
Cdh8 A G 8: 99,923,002 (GRCm39) V298A probably damaging Het
Cfap54 T A 10: 92,837,720 (GRCm39) Q1060L probably benign Het
Cfap58 G A 19: 48,017,541 (GRCm39) M800I possibly damaging Het
Cntn5 A T 9: 9,833,465 (GRCm39) V362D probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
G2e3 T C 12: 51,419,449 (GRCm39) S699P probably damaging Het
Gbp4 G T 5: 105,267,387 (GRCm39) Q511K possibly damaging Het
Gdap2 T A 3: 100,098,991 (GRCm39) I361N probably damaging Het
Ino80c T A 18: 24,245,819 (GRCm39) H92L probably benign Het
Lipo4 A G 19: 33,480,618 (GRCm39) V250A probably benign Het
Llgl1 C T 11: 60,604,010 (GRCm39) R1055W probably damaging Het
Lrriq3 T C 3: 154,835,138 (GRCm39) probably null Het
Mmp1a A G 9: 7,467,294 (GRCm39) E290G probably damaging Het
Ncstn A G 1: 171,899,731 (GRCm39) V317A probably benign Het
Nup155 A T 15: 8,183,122 (GRCm39) probably null Het
Nup214 C A 2: 31,892,619 (GRCm39) P680T probably damaging Het
Or6c212 G A 10: 129,558,799 (GRCm39) L205F probably damaging Het
Or7h8 A G 9: 20,124,454 (GRCm39) K270E probably benign Het
Or8b12 A G 9: 37,657,943 (GRCm39) N171S probably benign Het
Or8b9 G A 9: 37,766,515 (GRCm39) V134I probably benign Het
Pkd2 T C 5: 104,628,198 (GRCm39) F424S probably damaging Het
Plb1 A G 5: 32,499,259 (GRCm39) D1074G probably damaging Het
Ppm1l T C 3: 69,224,927 (GRCm39) S10P possibly damaging Het
Rnf213 A G 11: 119,331,634 (GRCm39) H2281R probably damaging Het
Rpa2 G T 4: 132,503,559 (GRCm39) A3S probably benign Het
Sardh A G 2: 27,101,096 (GRCm39) V698A possibly damaging Het
Saxo2 A T 7: 82,284,586 (GRCm39) C91S probably benign Het
Slc3a2 T C 19: 8,685,406 (GRCm39) D198G probably damaging Het
Spata31d1d T A 13: 59,876,592 (GRCm39) E314D probably benign Het
Sptlc3 T C 2: 139,388,398 (GRCm39) V130A probably benign Het
Stpg3 C A 2: 25,103,580 (GRCm39) E115* probably null Het
Tbcd T A 11: 121,342,927 (GRCm39) D19E probably benign Het
Xrcc3 T C 12: 111,778,545 (GRCm39) D2G 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
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
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'- GGGTTGTAAAAGACACTTGCC -3'
(R):5'- TTGCGAGGACACGGATTTGC -3'

Sequencing Primer
(F):5'- CAGCTTTACAAGATGACCAC -3'
(R):5'- CACGGATTTGCAGAAATGAAACTC -3'
Posted On 2016-09-01