Incidental Mutation 'IGL00903:Fam173b'
ID29034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam173b
Ensembl Gene ENSMUSG00000039065
Gene Namefamily with sequence similarity 173, member B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #IGL00903
Quality Score
Status
Chromosome15
Chromosomal Location31601852-31621227 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31606115 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 73 (V73A)
Ref Sequence ENSEMBL: ENSMUSP00000039094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022842] [ENSMUST00000042702] [ENSMUST00000161061] [ENSMUST00000161266]
Predicted Effect probably benign
Transcript: ENSMUST00000022842
SMART Domains Protein: ENSMUSP00000022842
Gene: ENSMUSG00000022234

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 44 537 7.7e-160 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000042702
AA Change: V73A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039094
Gene: ENSMUSG00000039065
AA Change: V73A

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
SCOP:d1dusa_ 87 186 2e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160146
Predicted Effect probably benign
Transcript: ENSMUST00000161061
SMART Domains Protein: ENSMUSP00000124619
Gene: ENSMUSG00000039065

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161266
SMART Domains Protein: ENSMUSP00000125566
Gene: ENSMUSG00000022234

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 6 199 5.4e-61 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500012F01Rik G T 2: 167,065,486 probably benign Het
Arsk A G 13: 76,098,368 probably null Het
As3mt A G 19: 46,712,234 I159V probably benign Het
Ctsll3 C A 13: 60,800,261 V201L probably benign Het
Dapk1 T C 13: 60,761,397 Y1275H probably damaging Het
Erap1 G A 13: 74,673,707 R727H probably benign Het
Fcrl6 T A 1: 172,599,107 T91S probably benign Het
Gvin1 T C 7: 106,158,170 E2364G probably benign Het
Hacd3 T C 9: 65,004,253 probably benign Het
Hcls1 T A 16: 36,956,021 probably null Het
Igf2r C T 17: 12,683,867 R2432H possibly damaging Het
Kif27 C A 13: 58,344,672 V218F possibly damaging Het
Klhl20 T C 1: 161,090,506 Y70C probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lcn12 G T 2: 25,493,320 N15K possibly damaging Het
Mrgpra1 T C 7: 47,335,578 M118V probably benign Het
Nacad G T 11: 6,600,632 T853K probably damaging Het
Nos3 A T 5: 24,369,862 Q293L probably damaging Het
Prkca C T 11: 107,983,974 V381M probably damaging Het
Ptcd3 A G 6: 71,907,844 F37S possibly damaging Het
Ptgs2 A G 1: 150,104,424 Y371C probably damaging Het
Pygl T C 12: 70,207,742 Y143C probably damaging Het
Samhd1 A G 2: 157,107,423 probably benign Het
Scube1 T A 15: 83,703,501 H89L probably damaging Het
Tmem59l G A 8: 70,485,665 probably benign Het
Vmn2r108 A G 17: 20,462,512 V810A probably damaging Het
Vmn2r61 T G 7: 42,300,511 F785C probably damaging Het
Other mutations in Fam173b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02715:Fam173b APN 15 31606003 missense probably benign 0.16
R0414:Fam173b UTSW 15 31617002 nonsense probably null
R0462:Fam173b UTSW 15 31616872 missense probably damaging 1.00
R0518:Fam173b UTSW 15 31605957 missense probably benign 0.05
R0521:Fam173b UTSW 15 31605957 missense probably benign 0.05
R1692:Fam173b UTSW 15 31602151 critical splice donor site probably null
R2141:Fam173b UTSW 15 31609572 missense probably benign 0.09
R4719:Fam173b UTSW 15 31608097 missense probably damaging 1.00
R5984:Fam173b UTSW 15 31616919 nonsense probably null
R6113:Fam173b UTSW 15 31608162 missense probably damaging 1.00
R6899:Fam173b UTSW 15 31617111 missense probably benign 0.03
Posted On2013-04-17