Incidental Mutation 'R4926:Foxi3'
ID379025
Institutional Source Beutler Lab
Gene Symbol Foxi3
Ensembl Gene ENSMUSG00000055874
Gene Nameforkhead box I3
Synonyms
MMRRC Submission 042527-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4926 (G1)
Quality Score157
Status Validated
Chromosome6
Chromosomal Location70956531-70961066 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 70957012 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 161 (S161L)
Ref Sequence ENSEMBL: ENSMUSP00000125380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069634] [ENSMUST00000163089]
Predicted Effect probably damaging
Transcript: ENSMUST00000069634
AA Change: S135L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000065664
Gene: ENSMUSG00000055874
AA Change: S135L

DomainStartEndE-ValueType
low complexity region 34 41 N/A INTRINSIC
low complexity region 49 84 N/A INTRINSIC
low complexity region 96 111 N/A INTRINSIC
FH 127 217 3.32e-61 SMART
low complexity region 219 225 N/A INTRINSIC
low complexity region 364 381 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163089
AA Change: S161L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125380
Gene: ENSMUSG00000055874
AA Change: S161L

DomainStartEndE-ValueType
low complexity region 60 67 N/A INTRINSIC
low complexity region 75 110 N/A INTRINSIC
low complexity region 122 137 N/A INTRINSIC
FH 153 243 3.32e-61 SMART
low complexity region 245 251 N/A INTRINSIC
low complexity region 390 407 N/A INTRINSIC
Meta Mutation Damage Score 0.1156 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (87/88)
MGI Phenotype PHENOTYPE: Homozygous null mice start dying after E9.5. Those born die neonatally, lack a mouth and whiskers, and show branchial arch-derived skeletal defects, including a reduced mandible, total absence of inner, middle and external ear structures, and increased cranial neural crest cell apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A T 9: 108,395,299 D136V probably damaging Het
Ankrd17 G A 5: 90,300,032 R217W probably damaging Het
Ankrd23 A T 1: 36,531,987 H102Q probably damaging Het
Arfip2 G T 7: 105,637,944 R138S probably damaging Het
Arhgap27 A T 11: 103,339,123 probably null Het
Atg2a T C 19: 6,257,533 L1499P probably damaging Het
Bnc2 A G 4: 84,276,179 S110P probably damaging Het
Ccdc171 T C 4: 83,558,592 probably benign Het
Ccdc7a A G 8: 128,980,054 probably benign Het
Chd5 T C 4: 152,383,311 S1689P probably benign Het
Corin A G 5: 72,372,182 C212R probably damaging Het
Cyp2c65 A G 19: 39,061,153 I42V probably benign Het
Cyp3a25 G A 5: 145,991,456 R260C probably damaging Het
Dock6 T C 9: 21,845,791 Y116C probably damaging Het
Eif3a A G 19: 60,763,218 probably benign Het
Epop T C 11: 97,628,317 D322G probably damaging Het
Eps8l3 T A 3: 107,890,688 probably benign Het
Exph5 T C 9: 53,376,625 S1669P possibly damaging Het
Faah A T 4: 115,999,626 probably benign Het
Fanca A G 8: 123,303,985 C453R probably benign Het
Fcgbp T A 7: 28,086,235 C366S probably damaging Het
Fmn2 A G 1: 174,502,415 T124A unknown Het
Foxo3 A T 10: 42,197,024 V499E probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,430,958 probably benign Het
Gbgt1 T C 2: 28,503,170 V90A probably damaging Het
Gm839 A C 6: 89,212,599 noncoding transcript Het
Gtf3c2 T C 5: 31,169,123 E348G possibly damaging Het
Hnrnpm G T 17: 33,649,801 R551S probably damaging Het
Hspa1l A G 17: 34,978,223 T413A possibly damaging Het
Hspg2 T C 4: 137,542,530 Y2297H probably damaging Het
Ighv1-81 T A 12: 115,920,473 I53L probably benign Het
Kcnj11 C T 7: 46,099,120 V260I probably benign Het
Krt84 A G 15: 101,530,254 V266A probably benign Het
Lgals3bp T C 11: 118,393,955 Y266C probably damaging Het
Lrrc41 T C 4: 116,089,324 V412A possibly damaging Het
Map4k4 A T 1: 40,017,225 E1023D probably damaging Het
Mark3 T A 12: 111,618,324 L118* probably null Het
Mrgpra9 T A 7: 47,235,011 T303S possibly damaging Het
Mterf4 T C 1: 93,304,925 E68G probably benign Het
Nckap5 A C 1: 126,528,641 probably benign Het
Nox3 T A 17: 3,669,894 T339S probably damaging Het
Nrip2 A C 6: 128,408,374 H256P probably benign Het
Oas1d T C 5: 120,915,768 V97A probably benign Het
Obox2 T A 7: 15,397,177 probably null Het
Olfr979 T C 9: 40,001,023 probably null Het
Opa1 T C 16: 29,648,973 F989S possibly damaging Het
Padi1 T A 4: 140,824,847 I429F probably damaging Het
Paics A G 5: 76,961,204 D163G probably damaging Het
Pik3c2b G T 1: 133,099,626 E1288* probably null Het
Prdm16 A T 4: 154,341,552 V593D possibly damaging Het
Prpf39 A G 12: 65,044,056 I165M possibly damaging Het
Pth2r A G 1: 65,321,984 T26A probably benign Het
Ptpn21 T C 12: 98,715,195 probably null Het
Rab44 C T 17: 29,139,555 A239V probably benign Het
Rtcb T C 10: 85,955,736 N52S probably benign Het
Sapcd2 T A 2: 25,373,566 probably null Het
Scaf11 T C 15: 96,418,242 E1147G possibly damaging Het
Selenoo T C 15: 89,099,678 Y595H probably damaging Het
Slc2a5 G T 4: 150,120,742 E3* probably null Het
Snw1 A G 12: 87,452,658 V391A probably benign Het
Sorbs2 A G 8: 45,796,217 K755R probably benign Het
Sorbs3 G T 14: 70,186,945 P513T probably damaging Het
Sowaha T A 11: 53,479,510 E133V possibly damaging Het
Srsf5 T C 12: 80,947,301 probably benign Het
St8sia5 T A 18: 77,254,782 M396K possibly damaging Het
Tcp11l1 T C 2: 104,681,785 I501V probably benign Het
Tert A G 13: 73,648,389 K1080E possibly damaging Het
Tescl T A 7: 24,333,898 M1L possibly damaging Het
Thop1 T A 10: 81,073,367 probably null Het
Tmtc4 T C 14: 122,973,206 H80R probably damaging Het
Toe1 C T 4: 116,804,532 S480N probably damaging Het
Trap1 C A 16: 4,045,488 V557F probably benign Het
Trim30d T C 7: 104,483,357 E91G probably benign Het
Ttf1 C T 2: 29,064,656 H11Y possibly damaging Het
Ttll8 C A 15: 88,914,165 G789V probably damaging Het
Ulk4 A G 9: 121,258,732 F298S probably benign Het
Wwc1 C T 11: 35,889,400 A243T probably benign Het
Zfp248 A C 6: 118,429,826 H267Q possibly damaging Het
Zfyve26 T A 12: 79,275,011 M945L probably benign Het
Zufsp T C 10: 33,949,438 D16G probably damaging Het
Other mutations in Foxi3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Foxi3 APN 6 70960745 missense probably damaging 0.97
IGL01651:Foxi3 APN 6 70956991 missense probably damaging 1.00
R0362:Foxi3 UTSW 6 70956628 missense probably benign 0.16
R0528:Foxi3 UTSW 6 70957138 missense probably damaging 1.00
R1796:Foxi3 UTSW 6 70960810 missense possibly damaging 0.76
R3619:Foxi3 UTSW 6 70957063 missense probably damaging 1.00
R4649:Foxi3 UTSW 6 70956976 missense probably damaging 0.99
R5261:Foxi3 UTSW 6 70960516 missense probably damaging 1.00
R5338:Foxi3 UTSW 6 70960618 missense probably damaging 0.99
R7110:Foxi3 UTSW 6 70960746 missense probably benign 0.08
R7341:Foxi3 UTSW 6 70960878 missense probably benign 0.00
RF007:Foxi3 UTSW 6 70960861 missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- ACAACTTCGTATACTCGCAGC -3'
(R):5'- GCACCTTCTTAAAGCAGTCG -3'

Sequencing Primer
(F):5'- TACCTGTGGCTCAATGGGC -3'
(R):5'- GCACCTTCTTAAAGCAGTCGTTGAG -3'
Posted On2016-04-15