Incidental Mutation 'R6270:Foxn3'
ID 507288
Institutional Source Beutler Lab
Gene Symbol Foxn3
Ensembl Gene ENSMUSG00000033713
Gene Name forkhead box N3
Synonyms Ches1l, Ches1, 5430426H20Rik, HTLFL1
MMRRC Submission 044441-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.786) question?
Stock # R6270 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 99156337-99529841 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99354676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 163 (R163G)
Ref Sequence ENSEMBL: ENSMUSP00000135082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046859] [ENSMUST00000085108] [ENSMUST00000176928] [ENSMUST00000177269] [ENSMUST00000177451] [ENSMUST00000223484]
AlphaFold Q499D0
Predicted Effect probably damaging
Transcript: ENSMUST00000046859
AA Change: R163G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036035
Gene: ENSMUSG00000033713
AA Change: R163G

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
FH 112 204 2.48e-51 SMART
low complexity region 308 331 N/A INTRINSIC
low complexity region 342 363 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000085108
AA Change: R163G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082189
Gene: ENSMUSG00000033713
AA Change: R163G

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
FH 112 204 2.48e-51 SMART
low complexity region 308 331 N/A INTRINSIC
low complexity region 342 363 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000176928
AA Change: R163G
SMART Domains Protein: ENSMUSP00000135749
Gene: ENSMUSG00000033713
AA Change: R163G

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
Pfam:Fork_head 114 155 1.3e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177269
AA Change: R163G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135814
Gene: ENSMUSG00000033713
AA Change: R163G

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
FH 112 191 8.41e-40 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177287
Predicted Effect probably damaging
Transcript: ENSMUST00000177451
AA Change: R163G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135082
Gene: ENSMUSG00000033713
AA Change: R163G

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
FH 112 204 2.48e-51 SMART
low complexity region 308 331 N/A INTRINSIC
low complexity region 342 363 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223484
Meta Mutation Damage Score 0.9746 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 98% (51/52)
MGI Phenotype PHENOTYPE: Hypomorphic homozygous knockout affects the expression of osteogenic genes and leads to craniofacial abnormalities and reduces pre- and postnatal survival. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,242,933 (GRCm39) E648G probably benign Het
Ak7 A G 12: 105,734,960 (GRCm39) H642R probably benign Het
Akap11 T C 14: 78,756,239 (GRCm39) E53G probably damaging Het
Ark2n T C 18: 77,762,117 (GRCm39) D65G probably damaging Het
Ddr2 T G 1: 169,816,109 (GRCm39) T533P probably benign Het
Dhx40 A G 11: 86,690,431 (GRCm39) S197P possibly damaging Het
Dolpp1 C A 2: 30,282,281 (GRCm39) probably benign Het
Eng A G 2: 32,563,655 (GRCm39) D347G probably benign Het
Esrra C T 19: 6,891,488 (GRCm39) probably null Het
Fap T C 2: 62,378,132 (GRCm39) I159V probably damaging Het
Fn1 C T 1: 71,676,434 (GRCm39) C599Y probably damaging Het
Fnbp4 T C 2: 90,587,807 (GRCm39) V395A probably damaging Het
Gphn T G 12: 78,569,724 (GRCm39) L306R probably benign Het
Gse1 T C 8: 121,295,902 (GRCm39) probably benign Het
Habp2 A G 19: 56,295,295 (GRCm39) D62G possibly damaging Het
Hdac7 AGGG AGGGG 15: 97,706,376 (GRCm39) probably null Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Kit A G 5: 75,770,169 (GRCm39) T194A probably benign Het
Krt16 C A 11: 100,138,029 (GRCm39) A316S possibly damaging Het
Krt7 A G 15: 101,317,439 (GRCm39) D244G probably damaging Het
Lhfpl3 T A 5: 23,478,349 (GRCm39) Y77* probably null Het
Lrrc18 A T 14: 32,731,078 (GRCm39) M206L probably benign Het
Magel2 C A 7: 62,030,406 (GRCm39) C1103* probably null Het
Mcf2l T C 8: 13,068,701 (GRCm39) V1058A probably damaging Het
Nbas G A 12: 13,374,294 (GRCm39) A541T probably damaging Het
Nrap C T 19: 56,308,630 (GRCm39) M1485I probably benign Het
Nudt18 T C 14: 70,816,830 (GRCm39) Y145H probably benign Het
Or51b6b T C 7: 103,309,620 (GRCm39) Y279C possibly damaging Het
Or51f1d T C 7: 102,700,538 (GRCm39) L11P probably benign Het
Or5k8 A T 16: 58,644,782 (GRCm39) C97S probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb12 A T 18: 37,569,838 (GRCm39) Q328L possibly damaging Het
Pde6c T C 19: 38,146,884 (GRCm39) W431R probably damaging Het
Pga5 T C 19: 10,652,225 (GRCm39) E139G probably benign Het
Pkdrej G T 15: 85,705,306 (GRCm39) S210* probably null Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Sema3d A T 5: 12,498,074 (GRCm39) M27L probably benign Het
Serinc5 T C 13: 92,825,170 (GRCm39) S200P probably damaging Het
Sf3b3 T C 8: 111,568,452 (GRCm39) D174G probably damaging Het
Sult1b1 A T 5: 87,665,413 (GRCm39) probably null Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcaf3 T C 6: 42,570,725 (GRCm39) I342M probably benign Het
Tenm3 G A 8: 48,820,429 (GRCm39) T136M probably damaging Het
Tet3 T C 6: 83,352,773 (GRCm39) T1008A possibly damaging Het
Tgif1 T C 17: 71,151,861 (GRCm39) probably null Het
Trav15-2-dv6-2 A G 14: 53,887,323 (GRCm39) D81G probably benign Het
Trpv5 T A 6: 41,651,293 (GRCm39) H251L possibly damaging Het
Ttc14 C A 3: 33,854,537 (GRCm39) T37K possibly damaging Het
Vmn2r80 A T 10: 79,030,159 (GRCm39) I662L probably benign Het
Vmn2r81 A G 10: 79,129,649 (GRCm39) I847V probably benign Het
Zfp474 A G 18: 52,771,436 (GRCm39) T30A probably benign Het
Zswim4 C T 8: 84,957,580 (GRCm39) V163M probably damaging Het
Other mutations in Foxn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Foxn3 APN 12 99,162,866 (GRCm39) missense possibly damaging 0.90
R0521:Foxn3 UTSW 12 99,175,765 (GRCm39) missense probably benign 0.00
R2248:Foxn3 UTSW 12 99,162,815 (GRCm39) missense probably benign 0.08
R4094:Foxn3 UTSW 12 99,162,700 (GRCm39) missense probably damaging 1.00
R4095:Foxn3 UTSW 12 99,162,700 (GRCm39) missense probably damaging 1.00
R5276:Foxn3 UTSW 12 99,162,687 (GRCm39) nonsense probably null
R6207:Foxn3 UTSW 12 99,162,569 (GRCm39) missense probably damaging 1.00
R6364:Foxn3 UTSW 12 99,354,952 (GRCm39) missense probably benign 0.42
R6379:Foxn3 UTSW 12 99,162,537 (GRCm39) missense probably benign
R7443:Foxn3 UTSW 12 99,355,038 (GRCm39) missense possibly damaging 0.61
R7741:Foxn3 UTSW 12 99,162,587 (GRCm39) missense probably damaging 1.00
R8021:Foxn3 UTSW 12 99,355,161 (GRCm39) start codon destroyed probably null 0.99
R8365:Foxn3 UTSW 12 99,307,727 (GRCm39) missense probably damaging 0.96
R8390:Foxn3 UTSW 12 99,355,000 (GRCm39) missense probably benign 0.00
R8811:Foxn3 UTSW 12 99,162,951 (GRCm39) missense probably benign 0.34
R9085:Foxn3 UTSW 12 99,355,095 (GRCm39) missense probably damaging 0.97
R9581:Foxn3 UTSW 12 99,163,035 (GRCm39) missense probably damaging 0.98
R9594:Foxn3 UTSW 12 99,359,294 (GRCm39) intron probably benign
Z1177:Foxn3 UTSW 12 99,354,856 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCCATTCATAACGACTTCAGCATGG -3'
(R):5'- TGTGCAGGACCTAGACGATG -3'

Sequencing Primer
(F):5'- CATAACGACTTCAGCATGGTTAAC -3'
(R):5'- ACTCGGACATGCCCTATGATG -3'
Posted On 2018-03-15