Incidental Mutation 'R9330:Nfxl1'
ID 706785
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 # R9330 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 72670644-72717027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72681451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 693 (D693E)
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: D693E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000084467
Gene: ENSMUSG00000072889
AA Change: D693E

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 0.0638 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T A 5: 113,330,833 (GRCm39) D1127V probably benign Het
Ajap1 A G 4: 153,516,961 (GRCm39) S127P probably damaging Het
Cdon T A 9: 35,400,275 (GRCm39) Y996* probably null Het
Cnr2 A G 4: 135,644,312 (GRCm39) D130G probably damaging Het
Cyp2j12 A G 4: 95,994,791 (GRCm39) V344A probably damaging Het
Cyp4a32 T A 4: 115,478,635 (GRCm39) C456S probably damaging Het
Dipk1a A T 5: 108,059,583 (GRCm39) D123E probably benign Het
Dsc1 T A 18: 20,243,214 (GRCm39) T80S possibly damaging Het
Esyt2 G A 12: 116,305,765 (GRCm39) V332I probably benign Het
Fcgbpl1 C T 7: 27,856,410 (GRCm39) H2066Y probably benign Het
G2e3 C T 12: 51,403,928 (GRCm39) Q161* probably null Het
Galnt18 C A 7: 111,071,271 (GRCm39) R566L probably benign Het
Gatb C T 3: 85,559,801 (GRCm39) P542S probably benign Het
Gpt G A 15: 76,581,215 (GRCm39) R53H possibly damaging Het
Herpud2 T C 9: 25,036,246 (GRCm39) E138G probably damaging Het
Hivep1 A G 13: 42,317,713 (GRCm39) Y2063C probably damaging Het
Hoxd12 T A 2: 74,505,733 (GRCm39) Y101* probably null Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Lama4 T C 10: 38,954,722 (GRCm39) F1092L probably damaging Het
Lrp1b A G 2: 41,012,993 (GRCm39) S1985P Het
Malrd1 C T 2: 16,260,089 (GRCm39) P2103L unknown Het
Mbnl1 C A 3: 60,511,168 (GRCm39) N41K possibly damaging Het
Muc16 T C 9: 18,552,332 (GRCm39) N4654D probably benign Het
Mug1 A G 6: 121,859,723 (GRCm39) T1241A probably benign Het
Ncam1 T C 9: 49,456,097 (GRCm39) D507G probably benign Het
Npr1 A T 3: 90,365,979 (GRCm39) I604N possibly damaging Het
Obscn G A 11: 58,971,047 (GRCm39) H2280Y possibly damaging Het
Or5b105 T A 19: 13,080,588 (GRCm39) I27F probably benign Het
Or7c70 T C 10: 78,683,153 (GRCm39) T199A probably benign Het
Pcdh10 T C 3: 45,335,618 (GRCm39) V644A probably damaging Het
Pgk2 T A 17: 40,519,078 (GRCm39) I117F probably benign Het
Pinx1 T A 14: 64,109,777 (GRCm39) S110T probably benign Het
Pira1 A T 7: 3,742,234 (GRCm39) C98S probably damaging Het
Psmd1 A G 1: 86,061,490 (GRCm39) Y900C probably damaging Het
Rab3a C T 8: 71,209,881 (GRCm39) R149C probably damaging Het
Samsn1 T A 16: 75,673,433 (GRCm39) N148Y probably damaging Het
Sin3a C T 9: 57,032,481 (GRCm39) R1142C probably damaging Het
Snrnp27 A G 6: 86,653,184 (GRCm39) C145R probably benign Het
Sorl1 A C 9: 41,979,229 (GRCm39) V423G probably damaging Het
Sptlc3 G T 2: 139,388,423 (GRCm39) M138I probably benign Het
Tex15 T A 8: 34,065,143 (GRCm39) F1524L probably benign Het
Tln2 T C 9: 67,229,213 (GRCm39) N113D possibly damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tnfsf14 T A 17: 57,501,020 (GRCm39) D17V probably damaging Het
Trmt44 T C 5: 35,727,264 (GRCm39) D317G probably damaging Het
Trpc2 T C 7: 101,739,764 (GRCm39) F563L probably benign Het
Ubox5 T C 2: 130,442,165 (GRCm39) K174R probably benign Het
Vrk3 T C 7: 44,424,910 (GRCm39) S442P probably damaging Het
Wdr64 A T 1: 175,554,024 (GRCm39) T185S possibly damaging Het
Wfdc15a A T 2: 164,041,632 (GRCm39) C64S probably damaging Het
Zfp688 A G 7: 127,021,077 (GRCm39) Y34H probably damaging Het
Zfp808 A T 13: 62,319,974 (GRCm39) H401L 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
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
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'- AGCACTTCTGTAAGCCCCAC -3'
(R):5'- AGGAATGTGTTGACAGGTGC -3'

Sequencing Primer
(F):5'- GCAGGTACAATGCTTACTGC -3'
(R):5'- TGGAAACATGTTAGACCATTGTG -3'
Posted On 2022-04-18