Incidental Mutation 'IGL03306:Fam169a'
ID 416376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam169a
Ensembl Gene ENSMUSG00000041817
Gene Name family with sequence similarity 169, member A
Synonyms B230112C05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL03306
Quality Score
Status
Chromosome 13
Chromosomal Location 97203795-97266801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97243497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 176 (Q176K)
Ref Sequence ENSEMBL: ENSMUSP00000126209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042517] [ENSMUST00000169863]
AlphaFold Q5XG69
Predicted Effect possibly damaging
Transcript: ENSMUST00000042517
AA Change: Q176K

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: Q176K

DomainStartEndE-ValueType
low complexity region 374 386 N/A INTRINSIC
low complexity region 602 619 N/A INTRINSIC
low complexity region 630 642 N/A INTRINSIC
low complexity region 650 663 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169863
AA Change: Q176K

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: Q176K

DomainStartEndE-ValueType
low complexity region 374 386 N/A INTRINSIC
low complexity region 602 619 N/A INTRINSIC
low complexity region 630 642 N/A INTRINSIC
low complexity region 650 663 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 T A 7: 76,239,252 (GRCm39) F584Y probably damaging Het
Amer2 C A 14: 60,616,001 (GRCm39) D65E probably damaging Het
Arhgap28 A T 17: 68,159,930 (GRCm39) L623Q probably damaging Het
Cep152 T C 2: 125,447,328 (GRCm39) T407A possibly damaging Het
Cmpk2 A G 12: 26,521,442 (GRCm39) D238G possibly damaging Het
Fbxo17 T A 7: 28,434,782 (GRCm39) I189N probably damaging Het
Gm5581 T A 6: 131,145,044 (GRCm39) noncoding transcript Het
Gpcpd1 C T 2: 132,375,993 (GRCm39) probably null Het
Lhx2 A G 2: 38,244,628 (GRCm39) Y123C probably damaging Het
Llgl1 C A 11: 60,602,180 (GRCm39) T741N possibly damaging Het
Macc1 A G 12: 119,410,603 (GRCm39) Q457R probably benign Het
Mthfd2l A G 5: 91,168,067 (GRCm39) T321A probably damaging Het
Myo6 T C 9: 80,153,837 (GRCm39) F271S probably damaging Het
Ncoa6 A G 2: 155,247,427 (GRCm39) V1959A probably benign Het
Npsr1 A G 9: 24,224,535 (GRCm39) D304G probably benign Het
Nup205 T C 6: 35,185,104 (GRCm39) V841A probably damaging Het
Or10c1 A G 17: 37,522,568 (GRCm39) Y59H probably damaging Het
Or1j20 A T 2: 36,760,537 (GRCm39) probably benign Het
Osbpl9 A G 4: 109,029,529 (GRCm39) probably benign Het
Pdgfra A G 5: 75,353,194 (GRCm39) N995D possibly damaging Het
Ptgs1 A T 2: 36,127,717 (GRCm39) H92L probably damaging Het
Rasd1 T A 11: 59,855,181 (GRCm39) I100F possibly damaging Het
Rbm26 T C 14: 105,388,758 (GRCm39) T378A probably damaging Het
Slc12a3 T C 8: 95,078,386 (GRCm39) S805P possibly damaging Het
Smarcal1 G A 1: 72,665,625 (GRCm39) V708I probably benign Het
Strn A G 17: 78,974,652 (GRCm39) S408P probably damaging Het
Suclg1 A G 6: 73,247,975 (GRCm39) N232S probably benign Het
Tmbim1 A G 1: 74,332,225 (GRCm39) Y101H probably damaging Het
Ube3a T A 7: 58,935,895 (GRCm39) L614Q probably damaging Het
Wrn A G 8: 33,826,149 (GRCm39) L171P probably damaging Het
Zfp335 T C 2: 164,737,904 (GRCm39) probably benign Het
Other mutations in Fam169a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Fam169a APN 13 97,259,207 (GRCm39) missense probably benign 0.00
IGL01380:Fam169a APN 13 97,228,459 (GRCm39) missense probably damaging 0.97
IGL01761:Fam169a APN 13 97,228,426 (GRCm39) missense possibly damaging 0.92
IGL02628:Fam169a APN 13 97,247,796 (GRCm39) splice site probably benign
IGL02739:Fam169a APN 13 97,230,563 (GRCm39) splice site probably benign
IGL03171:Fam169a APN 13 97,246,522 (GRCm39) splice site probably benign
IGL03377:Fam169a APN 13 97,228,381 (GRCm39) missense probably benign 0.04
IGL02980:Fam169a UTSW 13 97,250,188 (GRCm39) critical splice donor site probably null
R0282:Fam169a UTSW 13 97,234,223 (GRCm39) splice site probably benign
R1319:Fam169a UTSW 13 97,234,070 (GRCm39) missense probably damaging 1.00
R1468:Fam169a UTSW 13 97,255,038 (GRCm39) missense probably benign 0.01
R1468:Fam169a UTSW 13 97,255,038 (GRCm39) missense probably benign 0.01
R2037:Fam169a UTSW 13 97,243,600 (GRCm39) missense probably benign 0.37
R2380:Fam169a UTSW 13 97,255,043 (GRCm39) splice site probably benign
R3805:Fam169a UTSW 13 97,234,192 (GRCm39) missense probably benign 0.00
R4434:Fam169a UTSW 13 97,263,248 (GRCm39) missense probably damaging 1.00
R4435:Fam169a UTSW 13 97,263,248 (GRCm39) missense probably damaging 1.00
R4437:Fam169a UTSW 13 97,263,248 (GRCm39) missense probably damaging 1.00
R4590:Fam169a UTSW 13 97,234,093 (GRCm39) missense probably benign 0.02
R4896:Fam169a UTSW 13 97,234,100 (GRCm39) missense probably damaging 1.00
R5004:Fam169a UTSW 13 97,234,100 (GRCm39) missense probably damaging 1.00
R5276:Fam169a UTSW 13 97,255,004 (GRCm39) missense probably benign 0.01
R5370:Fam169a UTSW 13 97,243,470 (GRCm39) missense probably damaging 1.00
R5687:Fam169a UTSW 13 97,230,126 (GRCm39) missense probably damaging 1.00
R6151:Fam169a UTSW 13 97,230,138 (GRCm39) missense probably damaging 1.00
R7711:Fam169a UTSW 13 97,263,196 (GRCm39) nonsense probably null
R8322:Fam169a UTSW 13 97,259,260 (GRCm39) missense probably benign 0.00
R8493:Fam169a UTSW 13 97,259,367 (GRCm39) missense probably benign 0.00
R8698:Fam169a UTSW 13 97,243,578 (GRCm39) missense probably damaging 1.00
R8794:Fam169a UTSW 13 97,250,628 (GRCm39) missense possibly damaging 0.85
R9231:Fam169a UTSW 13 97,254,967 (GRCm39) missense probably benign 0.08
R9479:Fam169a UTSW 13 97,250,695 (GRCm39) missense possibly damaging 0.94
R9479:Fam169a UTSW 13 97,246,543 (GRCm39) missense possibly damaging 0.68
Posted On 2016-08-02