Incidental Mutation 'IGL01658:Fam168a'
ID 103081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam168a
Ensembl Gene ENSMUSG00000029461
Gene Name family with sequence similarity 168, member A
Synonyms 2610030B18Rik, B930006L02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # IGL01658
Quality Score
Status
Chromosome 7
Chromosomal Location 100355842-100490863 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 100462180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 42 (P42T)
Ref Sequence ENSEMBL: ENSMUSP00000147113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049053] [ENSMUST00000107042] [ENSMUST00000207564] [ENSMUST00000207875] [ENSMUST00000208013] [ENSMUST00000216021]
AlphaFold Q8BGZ2
Predicted Effect probably benign
Transcript: ENSMUST00000049053
AA Change: P42T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000038233
Gene: ENSMUSG00000029461
AA Change: P42T

DomainStartEndE-ValueType
Pfam:TCRP1 1 235 1.4e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107042
AA Change: P42T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000102657
Gene: ENSMUSG00000029461
AA Change: P42T

DomainStartEndE-ValueType
Pfam:TCRP1 1 235 1.7e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207078
Predicted Effect possibly damaging
Transcript: ENSMUST00000207564
AA Change: P42T

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000207875
AA Change: P42T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208013
AA Change: P42T

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209084
Predicted Effect probably benign
Transcript: ENSMUST00000216021
AA Change: P42T

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm A G 7: 80,113,689 (GRCm39) S1203P probably damaging Het
Cdc25a C A 9: 109,705,194 (GRCm39) probably null Het
Cstf1 T A 2: 172,214,993 (GRCm39) I38N probably benign Het
Fstl5 A G 3: 76,389,562 (GRCm39) Q253R possibly damaging Het
Gpr26 C T 7: 131,585,834 (GRCm39) T268I probably benign Het
Herc2 T A 7: 55,809,200 (GRCm39) Y2567N probably damaging Het
Hspg2 C T 4: 137,292,237 (GRCm39) T4035I probably damaging Het
Iqgap3 G A 3: 88,023,278 (GRCm39) R523Q possibly damaging Het
Mad2l1 T A 6: 66,514,586 (GRCm39) V85E possibly damaging Het
Mical2 T C 7: 111,914,205 (GRCm39) Y292H probably damaging Het
Myom2 T C 8: 15,127,880 (GRCm39) S239P probably damaging Het
Ncoa3 T C 2: 165,893,222 (GRCm39) probably benign Het
Nthl1 A G 17: 24,853,819 (GRCm39) T155A probably benign Het
Or2a14 T A 6: 43,130,784 (GRCm39) S182T probably damaging Het
Plcxd2 T G 16: 45,785,424 (GRCm39) E327A probably benign Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Satb1 C A 17: 52,082,279 (GRCm39) M458I probably benign Het
Smarcal1 T C 1: 72,625,290 (GRCm39) S146P probably benign Het
Taf4b T C 18: 14,977,477 (GRCm39) S750P probably damaging Het
Tha1 A G 11: 117,762,438 (GRCm39) L102P probably damaging Het
Trf A G 9: 103,104,055 (GRCm39) F103L probably benign Het
Trim2 T C 3: 84,117,592 (GRCm39) I8V probably benign Het
Usf1 C T 1: 171,244,867 (GRCm39) S177L possibly damaging Het
Usp12 T C 5: 146,688,739 (GRCm39) D205G probably damaging Het
Vps13b A G 15: 35,671,479 (GRCm39) T1661A probably damaging Het
Other mutations in Fam168a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Fam168a APN 7 100,473,417 (GRCm39) missense probably damaging 1.00
IGL03048:Fam168a UTSW 7 100,484,545 (GRCm39) missense probably damaging 0.99
R0069:Fam168a UTSW 7 100,484,618 (GRCm39) missense probably benign 0.40
R2509:Fam168a UTSW 7 100,483,391 (GRCm39) critical splice donor site probably null
R3715:Fam168a UTSW 7 100,473,432 (GRCm39) missense probably damaging 0.99
R4518:Fam168a UTSW 7 100,483,247 (GRCm39) missense probably damaging 1.00
R5463:Fam168a UTSW 7 100,484,602 (GRCm39) missense probably benign 0.00
R5486:Fam168a UTSW 7 100,483,376 (GRCm39) missense probably damaging 0.99
R6123:Fam168a UTSW 7 100,473,357 (GRCm39) missense probably damaging 1.00
R8974:Fam168a UTSW 7 100,484,611 (GRCm39) missense probably benign 0.33
R9075:Fam168a UTSW 7 100,484,582 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21