Incidental Mutation 'R4090:Fam83f'
ID 317581
Institutional Source Beutler Lab
Gene Symbol Fam83f
Ensembl Gene ENSMUSG00000022408
Gene Name family with sequence similarity 83, member F
Synonyms
MMRRC Submission 040983-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4090 (G1)
Quality Score 208
Status Validated
Chromosome 15
Chromosomal Location 80556048-80584626 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80576393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 348 (N348I)
Ref Sequence ENSEMBL: ENSMUSP00000023044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023044]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023044
AA Change: N348I

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023044
Gene: ENSMUSG00000022408
AA Change: N348I

DomainStartEndE-ValueType
Pfam:DUF1669 15 291 1.5e-111 PFAM
Pfam:PLDc_2 148 286 6.4e-12 PFAM
low complexity region 346 360 N/A INTRINSIC
low complexity region 447 458 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230612
Meta Mutation Damage Score 0.1211 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (53/55)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T G 10: 106,889,313 (GRCm39) Y169S probably damaging Het
Apc2 A G 10: 80,141,378 (GRCm39) K268E probably damaging Het
Arhgef2 G C 3: 88,551,185 (GRCm39) R765P probably benign Het
Bptf T C 11: 106,972,349 (GRCm39) K840E probably damaging Het
Carf A G 1: 60,175,506 (GRCm39) R245G possibly damaging Het
Cd36 A G 5: 17,990,718 (GRCm39) probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Cldn34c4 A T X: 126,629,011 (GRCm39) V153E probably damaging Het
Col4a4 T A 1: 82,501,643 (GRCm39) Y370F unknown Het
Cplane1 T A 15: 8,241,842 (GRCm39) probably null Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Exoc6 A G 19: 37,560,360 (GRCm39) T126A probably benign Het
Gja8 A G 3: 96,826,468 (GRCm39) V398A probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm12789 A T 4: 101,845,526 (GRCm39) T72S possibly damaging Het
Gm1988 A G 7: 38,820,292 (GRCm39) noncoding transcript Het
Gm21370 A G 13: 120,488,489 (GRCm39) V20A probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hsd17b13 T A 5: 104,113,720 (GRCm39) S245C probably benign Het
Htr1f T C 16: 64,746,324 (GRCm39) K323E probably benign Het
Igkc T C 6: 70,703,442 (GRCm39) probably benign Het
Ksr1 T C 11: 78,918,303 (GRCm39) E535G probably damaging Het
Mlxipl A T 5: 135,161,381 (GRCm39) E433D probably benign Het
Npc1 T C 18: 12,331,219 (GRCm39) probably null Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or1e29 A G 11: 73,667,667 (GRCm39) L162P probably damaging Het
Or6y1 A G 1: 174,276,500 (GRCm39) T104A probably benign Het
Or7g17 T C 9: 18,768,398 (GRCm39) I159T probably benign Het
Pcdha3 A G 18: 37,081,504 (GRCm39) R749G probably benign Het
Ppme1 A T 7: 99,997,044 (GRCm39) N122K possibly damaging Het
Rasal1 G A 5: 120,813,674 (GRCm39) V657M possibly damaging Het
Rbm47 A G 5: 66,180,080 (GRCm39) M409T probably benign Het
Rragd C T 4: 33,007,155 (GRCm39) T161M probably damaging Het
Slurp1 T C 15: 74,598,724 (GRCm39) H89R possibly damaging Het
Snap23 A G 2: 120,416,061 (GRCm39) I42V probably benign Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Taar8a T A 10: 23,953,062 (GRCm39) V222E probably damaging Het
Tmem171 A T 13: 98,829,096 (GRCm39) V18D probably damaging Het
Topors T C 4: 40,260,794 (GRCm39) D830G unknown Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Tubg1 T A 11: 101,015,364 (GRCm39) M270K possibly damaging Het
Vmn1r188 T C 13: 22,272,772 (GRCm39) V242A probably benign Het
Vmn1r19 T A 6: 57,381,720 (GRCm39) I91N probably damaging Het
Vmn2r12 T A 5: 109,239,412 (GRCm39) M384L probably benign Het
Wdr26 T C 1: 181,030,679 (GRCm39) E205G probably damaging Het
Zfp281 T A 1: 136,553,859 (GRCm39) I279N probably damaging Het
Zfp398 T A 6: 47,843,159 (GRCm39) C272S probably damaging Het
Zfp975 A G 7: 42,312,298 (GRCm39) V105A probably benign Het
Other mutations in Fam83f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02971:Fam83f APN 15 80,556,350 (GRCm39) missense probably benign
R0212:Fam83f UTSW 15 80,574,779 (GRCm39) missense probably benign 0.00
R0347:Fam83f UTSW 15 80,556,458 (GRCm39) missense probably damaging 1.00
R0976:Fam83f UTSW 15 80,576,285 (GRCm39) missense probably damaging 1.00
R1724:Fam83f UTSW 15 80,576,468 (GRCm39) missense possibly damaging 0.65
R1725:Fam83f UTSW 15 80,576,468 (GRCm39) missense possibly damaging 0.65
R1741:Fam83f UTSW 15 80,576,468 (GRCm39) missense possibly damaging 0.65
R1796:Fam83f UTSW 15 80,574,283 (GRCm39) missense possibly damaging 0.80
R1870:Fam83f UTSW 15 80,574,113 (GRCm39) splice site probably benign
R1899:Fam83f UTSW 15 80,576,281 (GRCm39) missense probably damaging 1.00
R2022:Fam83f UTSW 15 80,576,468 (GRCm39) missense possibly damaging 0.65
R2114:Fam83f UTSW 15 80,576,468 (GRCm39) missense possibly damaging 0.65
R2115:Fam83f UTSW 15 80,576,468 (GRCm39) missense possibly damaging 0.65
R4865:Fam83f UTSW 15 80,576,650 (GRCm39) missense probably damaging 1.00
R4893:Fam83f UTSW 15 80,576,156 (GRCm39) missense probably damaging 1.00
R5206:Fam83f UTSW 15 80,576,255 (GRCm39) missense possibly damaging 0.86
R5739:Fam83f UTSW 15 80,576,206 (GRCm39) missense probably damaging 1.00
R6468:Fam83f UTSW 15 80,576,312 (GRCm39) missense possibly damaging 0.77
R7838:Fam83f UTSW 15 80,576,704 (GRCm39) missense possibly damaging 0.94
R8070:Fam83f UTSW 15 80,556,281 (GRCm39) missense probably damaging 1.00
R8082:Fam83f UTSW 15 80,574,119 (GRCm39) missense probably damaging 0.98
R9071:Fam83f UTSW 15 80,576,206 (GRCm39) missense probably damaging 1.00
R9711:Fam83f UTSW 15 80,574,819 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAAGTGAACTTGCACCAGC -3'
(R):5'- TGAAGCGTTTGCCCTCCTTG -3'

Sequencing Primer
(F):5'- CACCTGGGCCTGGCAGG -3'
(R):5'- GACCTGTGCTTCGCGTCTG -3'
Posted On 2015-05-15