Incidental Mutation 'IGL01662:Fam105a'
ID103211
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam105a
Ensembl Gene ENSMUSG00000056069
Gene Namefamily with sequence similarity 105, member A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL01662
Quality Score
Status
Chromosome15
Chromosomal Location27655069-27681579 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 27658065 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 290 (D290N)
Ref Sequence ENSEMBL: ENSMUSP00000153902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100739] [ENSMUST00000226145] [ENSMUST00000226170] [ENSMUST00000226581]
Predicted Effect probably damaging
Transcript: ENSMUST00000100739
AA Change: D240N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098305
Gene: ENSMUSG00000056069
AA Change: D240N

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:Peptidase_C101 85 114 4e-10 PFAM
Pfam:Peptidase_C101 112 302 1.1e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226145
AA Change: D290N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000226170
AA Change: D290N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000226581
AA Change: D120N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000231473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232492
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,538,288 I402F probably damaging Het
Acvr2b T C 9: 119,432,504 Y388H probably damaging Het
Adh1 G A 3: 138,282,751 D162N possibly damaging Het
C6 G T 15: 4,792,754 R585I probably damaging Het
Ccdc169 T A 3: 55,163,311 probably null Het
Cdh13 T A 8: 118,675,177 M106K probably damaging Het
Cep78 C T 19: 15,960,995 E530K probably damaging Het
Cyfip1 T A 7: 55,896,739 L533Q probably damaging Het
Etl4 T C 2: 20,806,649 V1181A probably benign Het
Fam122a A G 19: 24,476,584 V258A probably benign Het
Galnt7 T G 8: 57,531,735 probably benign Het
Gm11595 G A 11: 99,772,672 R61C unknown Het
Gucy1a1 T A 3: 82,109,253 I143F possibly damaging Het
Hmcn1 T C 1: 150,737,299 N1410D possibly damaging Het
Ltbp2 G A 12: 84,809,246 T741I probably benign Het
Mdc1 T C 17: 35,852,505 S982P probably benign Het
Mfsd4b2 A G 10: 39,922,197 probably benign Het
Mrgprb5 T G 7: 48,168,424 I188L probably benign Het
Naip6 T A 13: 100,300,354 S554C probably damaging Het
Nav2 A G 7: 49,571,209 N1715D probably damaging Het
Nav3 A T 10: 109,769,258 S985T possibly damaging Het
Nme7 A G 1: 164,328,297 Q22R probably benign Het
Olfr556 T C 7: 102,670,720 W267R probably damaging Het
Ppp1r9a A G 6: 5,115,322 E815G probably damaging Het
Ppp2r2c T A 5: 36,926,400 I95N probably damaging Het
Ppp4r4 G A 12: 103,602,966 E717K possibly damaging Het
Prdm2 A G 4: 143,133,568 S1051P possibly damaging Het
Rnf214 T C 9: 45,899,786 D193G probably damaging Het
Sirpb1b G T 3: 15,543,184 T167K probably damaging Het
Slc16a3 C A 11: 120,956,706 S240* probably null Het
Snx14 T A 9: 88,385,838 probably benign Het
Sorbs2 A G 8: 45,803,829 probably benign Het
Stk-ps2 A T 1: 46,029,362 noncoding transcript Het
Taar7b A T 10: 23,999,976 D13V probably benign Het
Trp53bp1 T C 2: 121,236,025 E740G probably damaging Het
Unc79 C T 12: 103,149,020 A2054V possibly damaging Het
Zfp106 A G 2: 120,523,553 V211A probably benign Het
Zfp112 A G 7: 24,125,954 H449R probably benign Het
Other mutations in Fam105a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Fam105a APN 15 27658116 missense possibly damaging 0.93
IGL02991:Fam105a UTSW 15 27658302 missense possibly damaging 0.88
R0349:Fam105a UTSW 15 27664790 missense probably benign 0.01
R0726:Fam105a UTSW 15 27656947 missense probably damaging 1.00
R1054:Fam105a UTSW 15 27664549 missense probably damaging 1.00
R1201:Fam105a UTSW 15 27658173 nonsense probably null
R3001:Fam105a UTSW 15 27664706 missense probably benign 0.00
R3002:Fam105a UTSW 15 27664706 missense probably benign 0.00
R4362:Fam105a UTSW 15 27664343 critical splice donor site probably null
R4363:Fam105a UTSW 15 27664343 critical splice donor site probably null
R5340:Fam105a UTSW 15 27658089 missense possibly damaging 0.75
R5364:Fam105a UTSW 15 27659945 nonsense probably null
R5920:Fam105a UTSW 15 27664356 missense possibly damaging 0.58
R7044:Fam105a UTSW 15 27657235 intron probably benign
R7175:Fam105a UTSW 15 27658288 missense probably damaging 1.00
R7229:Fam105a UTSW 15 27658187 missense probably benign 0.35
R7305:Fam105a UTSW 15 27658233 missense probably benign 0.07
X0025:Fam105a UTSW 15 27659942 missense probably damaging 1.00
Posted On2014-01-21