Incidental Mutation 'R5910:Nfxl1'
ID 460911
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 044107-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R5910 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 72670644-72717027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72697708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 347 (R347G)
Ref Sequence ENSEMBL: ENSMUSP00000084467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074948] [ENSMUST00000087216] [ENSMUST00000135318]
AlphaFold E9Q8I7
Predicted Effect silent
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 benign
Transcript: ENSMUST00000087216
AA Change: R347G

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000084467
Gene: ENSMUSG00000072889
AA Change: R347G

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
AA Change: R347G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000114355
Gene: ENSMUSG00000072889
AA Change: R347G

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 0.0939 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 95% (93/98)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,076 (GRCm39) N976D probably damaging Het
Adamts1 G A 16: 85,599,037 (GRCm39) R188W probably benign Het
Adcy4 A T 14: 56,016,470 (GRCm39) V327D probably damaging Het
Alg8 T C 7: 97,039,493 (GRCm39) I408T possibly damaging Het
Ankib1 T C 5: 3,743,217 (GRCm39) S933G probably benign Het
Ap2a2 A G 7: 141,178,691 (GRCm39) D106G probably damaging Het
Arhgap22 A T 14: 33,088,572 (GRCm39) H351L probably damaging Het
Arhgef2 A G 3: 88,542,327 (GRCm39) Y310C probably damaging Het
Atm A T 9: 53,359,380 (GRCm39) S2804R probably damaging Het
Baz2b A G 2: 59,807,770 (GRCm39) L163P possibly damaging Het
Bcl2l12 C T 7: 44,645,967 (GRCm39) probably null Het
Cdh23 A G 10: 60,213,600 (GRCm39) V1495A possibly damaging Het
Cep78 A G 19: 15,946,492 (GRCm39) S447P possibly damaging Het
Cfap43 G A 19: 47,768,710 (GRCm39) T778I possibly damaging Het
Cfap54 A T 10: 92,901,043 (GRCm39) N170K probably damaging Het
Cmya5 A T 13: 93,229,151 (GRCm39) L1979Q probably damaging Het
Col15a1 A T 4: 47,289,514 (GRCm39) E846D probably damaging Het
Col5a1 A G 2: 27,926,900 (GRCm39) K308E possibly damaging Het
Dcst1 T A 3: 89,257,731 (GRCm39) T680S possibly damaging Het
Dsp T C 13: 38,376,445 (GRCm39) L1410P possibly damaging Het
Edem3 T A 1: 151,646,578 (GRCm39) probably null Het
Efcab3 A T 11: 104,581,760 (GRCm39) E34V probably benign Het
Eif4e2 T A 1: 87,148,696 (GRCm39) Y64N probably damaging Het
Fcgbp C T 7: 27,784,928 (GRCm39) probably benign Het
Gm7275 A T 16: 47,893,826 (GRCm39) noncoding transcript Het
Grin3b G T 10: 79,808,855 (GRCm39) V202L probably benign Het
Gsdmc4 G A 15: 63,767,101 (GRCm39) S223F possibly damaging Het
H2bc14 A G 13: 21,906,470 (GRCm39) N68S probably benign Het
Hbp1 T C 12: 31,987,651 (GRCm39) H183R probably benign Het
Hectd3 A G 4: 116,859,331 (GRCm39) M652V probably benign Het
Hmgxb4 T C 8: 75,726,193 (GRCm39) F13L probably benign Het
Hnrnpab T C 11: 51,492,281 (GRCm39) K271R probably benign Het
Ilvbl A T 10: 78,412,947 (GRCm39) K156N probably benign Het
Iqce A T 5: 140,687,973 (GRCm39) probably benign Het
Itpr2 C A 6: 146,231,069 (GRCm39) V1194L probably benign Het
Kif18b A G 11: 102,804,370 (GRCm39) F384L probably benign Het
Klf14 A G 6: 30,934,774 (GRCm39) Y287H probably benign Het
Klhl6 A G 16: 19,775,844 (GRCm39) M238T probably benign Het
Lbp G A 2: 158,166,477 (GRCm39) V344I probably benign Het
Lrp12 T C 15: 39,739,439 (GRCm39) probably null Het
Mapk7 T A 11: 61,384,447 (GRCm39) M1L probably benign Het
Muc5b A G 7: 141,415,048 (GRCm39) T2665A possibly damaging Het
Ncln A T 10: 81,331,912 (GRCm39) probably null Het
Npnt C A 3: 132,612,179 (GRCm39) C231F probably damaging Het
Nrap T A 19: 56,330,743 (GRCm39) H1070L probably benign Het
Nrxn1 G T 17: 91,011,746 (GRCm39) Y294* probably null Het
Or4c126 A G 2: 89,823,782 (GRCm39) D15G probably benign Het
Or9s27 T C 1: 92,516,429 (GRCm39) Y126H probably damaging Het
Otog A G 7: 45,948,022 (GRCm39) H2341R possibly damaging Het
Paqr3 T C 5: 97,243,887 (GRCm39) probably null Het
Pcdhb11 T C 18: 37,556,796 (GRCm39) F709L probably benign Het
Phf12 G A 11: 77,918,224 (GRCm39) R812Q probably damaging Het
Polr2a A T 11: 69,637,696 (GRCm39) L216Q probably damaging Het
Polrmt A G 10: 79,579,331 (GRCm39) L140P probably benign Het
Pou2f3 C T 9: 43,045,769 (GRCm39) probably null Het
Prkcd A T 14: 30,317,938 (GRCm39) N548K probably benign Het
Pygb A G 2: 150,657,620 (GRCm39) D361G probably benign Het
Rpl9 A T 5: 65,546,044 (GRCm39) probably benign Het
Rubcnl A T 14: 75,272,912 (GRCm39) T211S probably benign Het
Rusc1 C T 3: 88,999,027 (GRCm39) G252S probably benign Het
Scnn1g A G 7: 121,337,318 (GRCm39) T60A probably damaging Het
Sipa1l2 T G 8: 126,218,423 (GRCm39) T305P probably benign Het
Slc18b1 T A 10: 23,700,565 (GRCm39) probably benign Het
Sp100 G A 1: 85,608,861 (GRCm39) probably null Het
Tekt5 A T 16: 10,205,017 (GRCm39) probably null Het
Tlnrd1 T A 7: 83,533,693 (GRCm39) probably benign Het
Tpcn1 A G 5: 120,685,462 (GRCm39) probably benign Het
Tpcn2 T C 7: 144,814,719 (GRCm39) I461V probably benign Het
Traf3ip1 A G 1: 91,455,467 (GRCm39) K643E probably damaging Het
Trim33 T C 3: 103,251,892 (GRCm39) C914R probably damaging Het
Trip11 G A 12: 101,849,738 (GRCm39) T1442I probably damaging Het
Ttll6 A G 11: 96,026,415 (GRCm39) M107V possibly damaging Het
Uap1l1 A G 2: 25,253,445 (GRCm39) probably benign Het
Ube3b T A 5: 114,553,370 (GRCm39) I914N possibly damaging Het
Usp24 A G 4: 106,237,665 (GRCm39) T1107A probably damaging Het
Usp40 A T 1: 87,896,122 (GRCm39) C811* probably null Het
Vps11 T C 9: 44,270,432 (GRCm39) probably null Het
Wdr91 A T 6: 34,868,422 (GRCm39) I433N possibly damaging Het
Zfp770 G C 2: 114,026,713 (GRCm39) S452* probably null 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
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'- CCTATTCAACTGACCTGACTGG -3'
(R):5'- TGTTACTGTAAGAAAGCCAAGCC -3'

Sequencing Primer
(F):5'- TGACCTGACTGGACAACACCTATG -3'
(R):5'- AAGCAGTGGTCCTGTCAGCTG -3'
Posted On 2017-02-28