Incidental Mutation 'IGL02695:Fam83c'
ID 303901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam83c
Ensembl Gene ENSMUSG00000074647
Gene Name family with sequence similarity 83, member C
Synonyms 5530400B04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL02695
Quality Score
Status
Chromosome 2
Chromosomal Location 155671103-155676772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155673435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 251 (D251G)
Ref Sequence ENSEMBL: ENSMUSP00000029143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029142] [ENSMUST00000029143] [ENSMUST00000109638] [ENSMUST00000134278]
AlphaFold A2ARK0
Predicted Effect probably benign
Transcript: ENSMUST00000029142
SMART Domains Protein: ENSMUSP00000029142
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
eIF6 3 204 2.72e-136 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000029143
AA Change: D251G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647
AA Change: D251G

DomainStartEndE-ValueType
Pfam:DUF1669 61 337 3.1e-107 PFAM
low complexity region 347 357 N/A INTRINSIC
low complexity region 368 385 N/A INTRINSIC
low complexity region 398 411 N/A INTRINSIC
low complexity region 474 484 N/A INTRINSIC
low complexity region 570 589 N/A INTRINSIC
low complexity region 672 685 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109638
SMART Domains Protein: ENSMUSP00000105266
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
Pfam:eIF-6 3 70 1.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134278
SMART Domains Protein: ENSMUSP00000123190
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
Pfam:eIF-6 1 58 5.1e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141926
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,287,929 (GRCm39) M389K probably benign Het
Adamts4 C A 1: 171,080,203 (GRCm39) T252K probably damaging Het
Adgrb2 G A 4: 129,912,625 (GRCm39) G1293D probably damaging Het
Ankfn1 T C 11: 89,282,645 (GRCm39) E1013G probably damaging Het
Ankrd34b C A 13: 92,576,120 (GRCm39) H451N possibly damaging Het
Cd300c2 C T 11: 114,892,379 (GRCm39) probably benign Het
Cntnap3 T G 13: 64,919,946 (GRCm39) Q637P probably benign Het
Cpne6 A T 14: 55,752,037 (GRCm39) I265F probably damaging Het
Dot1l C A 10: 80,613,442 (GRCm39) T18K probably damaging Het
Fyb1 A G 15: 6,610,402 (GRCm39) K325R probably damaging Het
Gas2l2 T A 11: 83,313,468 (GRCm39) I615F probably damaging Het
Gigyf2 A G 1: 87,344,549 (GRCm39) N494S probably benign Het
Gnaz T C 10: 74,827,974 (GRCm39) probably null Het
Haus5 A T 7: 30,362,702 (GRCm39) L36Q probably damaging Het
Hecw2 C T 1: 53,965,368 (GRCm39) G486D possibly damaging Het
Hmcn2 T C 2: 31,298,985 (GRCm39) F2777S possibly damaging Het
Il1rl1 T C 1: 40,485,718 (GRCm39) S290P possibly damaging Het
Itgam G T 7: 127,685,113 (GRCm39) A409S possibly damaging Het
Kdm5b T A 1: 134,532,223 (GRCm39) M467K possibly damaging Het
Lama2 A C 10: 26,876,771 (GRCm39) V2725G probably benign Het
Lhpp G A 7: 132,252,063 (GRCm39) R234Q probably damaging Het
Maf1 T C 15: 76,236,955 (GRCm39) S65P possibly damaging Het
Mgat5 T A 1: 127,339,868 (GRCm39) H416Q probably damaging Het
Mta2 A G 19: 8,925,728 (GRCm39) T408A probably benign Het
Neb T A 2: 52,145,603 (GRCm39) I2974F probably damaging Het
Neb C T 2: 52,101,608 (GRCm39) probably benign Het
Or1j19 C T 2: 36,677,332 (GRCm39) S265L possibly damaging Het
Or2d4 A G 7: 106,543,870 (GRCm39) S113P possibly damaging Het
Or52p1 A G 7: 104,267,678 (GRCm39) H264R probably damaging Het
Or5w22 C T 2: 87,362,461 (GRCm39) T28I probably benign Het
Pcca T A 14: 122,820,150 (GRCm39) probably benign Het
Prlr T C 15: 10,328,451 (GRCm39) F309L probably benign Het
Slc28a1 A T 7: 80,817,739 (GRCm39) Y536F probably benign Het
Slco1a8 A G 6: 141,933,486 (GRCm39) V433A probably damaging Het
Stab1 T A 14: 30,881,228 (GRCm39) N601Y probably damaging Het
Stil G T 4: 114,873,372 (GRCm39) V332F probably damaging Het
Stk11 A G 10: 79,961,311 (GRCm39) probably null Het
Tmem59 A G 4: 107,050,511 (GRCm39) N147S probably benign Het
Other mutations in Fam83c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Fam83c APN 2 155,676,362 (GRCm39) missense probably damaging 1.00
IGL01470:Fam83c APN 2 155,676,728 (GRCm39) missense possibly damaging 0.73
R0255:Fam83c UTSW 2 155,671,672 (GRCm39) missense probably benign 0.00
R0321:Fam83c UTSW 2 155,671,620 (GRCm39) missense probably benign
R0449:Fam83c UTSW 2 155,672,215 (GRCm39) missense probably benign 0.00
R1596:Fam83c UTSW 2 155,672,982 (GRCm39) critical splice acceptor site probably null
R1635:Fam83c UTSW 2 155,671,971 (GRCm39) missense possibly damaging 0.95
R2006:Fam83c UTSW 2 155,672,223 (GRCm39) missense probably benign 0.04
R2165:Fam83c UTSW 2 155,673,444 (GRCm39) missense possibly damaging 0.94
R3840:Fam83c UTSW 2 155,676,668 (GRCm39) missense probably benign
R3841:Fam83c UTSW 2 155,676,668 (GRCm39) missense probably benign
R4693:Fam83c UTSW 2 155,672,154 (GRCm39) missense probably damaging 1.00
R5660:Fam83c UTSW 2 155,671,509 (GRCm39) missense probably benign 0.08
R6364:Fam83c UTSW 2 155,676,443 (GRCm39) missense probably damaging 1.00
R6563:Fam83c UTSW 2 155,672,872 (GRCm39) missense probably damaging 0.98
R6976:Fam83c UTSW 2 155,672,157 (GRCm39) missense possibly damaging 0.63
R7124:Fam83c UTSW 2 155,671,491 (GRCm39) missense probably benign 0.00
R7643:Fam83c UTSW 2 155,672,924 (GRCm39) missense possibly damaging 0.93
R8088:Fam83c UTSW 2 155,673,559 (GRCm39) missense probably damaging 0.98
R8113:Fam83c UTSW 2 155,676,740 (GRCm39) missense probably benign 0.33
R8212:Fam83c UTSW 2 155,671,207 (GRCm39) missense probably benign 0.00
R8710:Fam83c UTSW 2 155,671,642 (GRCm39) missense probably benign 0.01
R8719:Fam83c UTSW 2 155,671,128 (GRCm39) missense probably benign 0.00
R9194:Fam83c UTSW 2 155,671,299 (GRCm39) missense probably damaging 1.00
R9549:Fam83c UTSW 2 155,676,672 (GRCm39) missense
R9642:Fam83c UTSW 2 155,672,980 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16