Incidental Mutation 'IGL03168:Fam26d'
ID411730
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam26d
Ensembl Gene ENSMUSG00000039508
Gene Namefamily with sequence similarity 26, member D
SynonymsLOC270711, 4732454E20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL03168
Quality Score
Status
Chromosome10
Chromosomal Location34038784-34044310 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 34041556 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 300 (V300I)
Ref Sequence ENSEMBL: ENSMUSP00000042466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048052] [ENSMUST00000095758] [ENSMUST00000218239]
Predicted Effect probably benign
Transcript: ENSMUST00000048052
AA Change: V300I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042466
Gene: ENSMUSG00000039508
AA Change: V300I

DomainStartEndE-ValueType
Pfam:Ca_hom_mod 6 258 4.8e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095758
SMART Domains Protein: ENSMUSP00000093432
Gene: ENSMUSG00000071340

DomainStartEndE-ValueType
Pfam:TRAPP 19 167 2.5e-36 PFAM
low complexity region 169 181 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218239
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,436,281 V29A probably benign Het
Ankk1 C A 9: 49,415,768 A704S possibly damaging Het
Aph1c G A 9: 66,833,337 probably benign Het
Arglu1 T A 8: 8,683,960 I119L probably benign Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
Chd3 A G 11: 69,348,915 probably benign Het
Colq T C 14: 31,524,420 Y445C probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Erfe T G 1: 91,371,442 N302K probably damaging Het
Fggy A T 4: 95,926,809 probably benign Het
Gata3 A G 2: 9,868,814 Y290H probably damaging Het
Grik4 T C 9: 42,671,243 T136A probably damaging Het
Hc G T 2: 35,024,198 N832K probably benign Het
Jhy A T 9: 40,917,552 S353T possibly damaging Het
Krt40 T A 11: 99,543,028 Q44L possibly damaging Het
Ksr2 T C 5: 117,748,781 F794S probably damaging Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1178 A G 2: 88,391,594 M116V probably damaging Het
Olfr138 A C 17: 38,274,791 S7R probably damaging Het
Olfr166 A T 16: 19,487,219 H127L probably benign Het
Olfr198 A G 16: 59,202,247 Y60H probably damaging Het
Olfr905 A G 9: 38,473,019 T91A probably benign Het
Pcdhb17 A G 18: 37,485,772 E205G probably benign Het
Pon3 A T 6: 5,256,177 I17K possibly damaging Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Qpct C A 17: 79,052,324 A20E unknown Het
Rap1a A G 3: 105,750,271 S11P probably damaging Het
Rnf145 C A 11: 44,555,158 T273K probably damaging Het
Speg T C 1: 75,388,187 I298T probably damaging Het
Syt6 G A 3: 103,587,627 V303M probably damaging Het
Tpr A G 1: 150,408,757 I324M probably benign Het
Uggt2 A G 14: 119,077,668 F330L probably damaging Het
Unc45a A T 7: 80,333,133 L348Q probably damaging Het
Vmn1r17 T A 6: 57,360,598 I212F probably benign Het
Vmn2r68 A C 7: 85,221,764 N770K probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Other mutations in Fam26d
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0309:Fam26d UTSW 10 34044047 missense probably damaging 1.00
R1541:Fam26d UTSW 10 34041663 missense probably benign 0.02
R6513:Fam26d UTSW 10 34041634 nonsense probably null
R6828:Fam26d UTSW 10 34043957 missense possibly damaging 0.47
R7633:Fam26d UTSW 10 34043908 missense possibly damaging 0.96
R7710:Fam26d UTSW 10 34044049 missense possibly damaging 0.56
Posted On2016-08-02