Incidental Mutation 'IGL02477:Fam171a2'
ID 295014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam171a2
Ensembl Gene ENSMUSG00000034685
Gene Name family with sequence similarity 171, member A2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL02477
Quality Score
Status
Chromosome 11
Chromosomal Location 102327807-102338508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102330854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 208 (I208M)
Ref Sequence ENSEMBL: ENSMUSP00000038486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049057] [ENSMUST00000049460] [ENSMUST00000125819]
AlphaFold A2A699
Predicted Effect probably benign
Transcript: ENSMUST00000049057
AA Change: I208M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: I208M

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:UPF0560 41 820 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049460
SMART Domains Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
GRAN 74 125 1.32e-22 SMART
GRAN 138 190 7.38e-26 SMART
GRAN 220 272 5.76e-28 SMART
GRAN 295 346 1.19e-29 SMART
GRAN 377 427 1.84e-26 SMART
GRAN 455 506 7.1e-28 SMART
GRAN 530 581 1.48e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123500
Predicted Effect probably benign
Transcript: ENSMUST00000125819
SMART Domains Protein: ENSMUSP00000134948
Gene: ENSMUSG00000034708

DomainStartEndE-ValueType
GRAN 42 72 5.03e-4 SMART
GRAN 100 151 7.1e-28 SMART
GRAN 175 226 1.48e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152015
Predicted Effect probably benign
Transcript: ENSMUST00000177428
SMART Domains Protein: ENSMUSP00000134893
Gene: ENSMUSG00000034708

DomainStartEndE-ValueType
GRAN 1 49 8.68e-23 SMART
GRAN 77 128 7.1e-28 SMART
GRAN 152 180 3.98e-2 SMART
low complexity region 244 259 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,127,943 (GRCm39) I61F probably benign Het
Abr T C 11: 76,352,186 (GRCm39) K280E probably damaging Het
Acaca T C 11: 84,197,994 (GRCm39) probably benign Het
Cep131 C T 11: 119,961,406 (GRCm39) V582I probably damaging Het
Colec12 A G 18: 9,859,858 (GRCm39) N613D unknown Het
Cyp4f39 A G 17: 32,708,619 (GRCm39) T389A probably benign Het
D630003M21Rik T C 2: 158,059,408 (GRCm39) N164S probably benign Het
Eef1akmt2 A T 7: 132,452,318 (GRCm39) probably null Het
Elp3 T C 14: 65,800,760 (GRCm39) T283A probably benign Het
Fads3 C A 19: 10,033,806 (GRCm39) P397Q probably damaging Het
Fam171a1 T C 2: 3,203,612 (GRCm39) V198A possibly damaging Het
Fbxw17 G A 13: 50,577,853 (GRCm39) V119M possibly damaging Het
Gtf2ird1 G A 5: 134,408,832 (GRCm39) T140M probably damaging Het
Hspa14 C T 2: 3,497,661 (GRCm39) S277N probably damaging Het
Hspg2 C T 4: 137,271,823 (GRCm39) probably benign Het
Ing2 G T 8: 48,122,303 (GRCm39) R82S possibly damaging Het
Kat6a A G 8: 23,419,316 (GRCm39) Y693C probably damaging Het
Kcna7 A G 7: 45,059,047 (GRCm39) M445V probably benign Het
Lifr T G 15: 7,216,404 (GRCm39) I793S probably damaging Het
Lrrd1 T A 5: 3,915,770 (GRCm39) M789K probably benign Het
Myom3 T A 4: 135,506,679 (GRCm39) L484Q probably benign Het
Nav2 T A 7: 49,232,623 (GRCm39) M1860K probably damaging Het
Nipbl C T 15: 8,353,131 (GRCm39) probably null Het
Nsun7 T A 5: 66,433,992 (GRCm39) I214K probably damaging Het
Or5k17 T C 16: 58,746,126 (GRCm39) I269M probably benign Het
Or8c20 C T 9: 38,260,421 (GRCm39) S8L probably benign Het
Osm T A 11: 4,189,604 (GRCm39) N129K probably damaging Het
Plce1 C T 19: 38,707,997 (GRCm39) probably benign Het
Plch1 A G 3: 63,660,714 (GRCm39) F302L probably damaging Het
Pld2 T C 11: 70,431,751 (GRCm39) V27A possibly damaging Het
Prex2 A G 1: 11,274,378 (GRCm39) D1350G probably benign Het
Psme4 T A 11: 30,792,083 (GRCm39) V1190D probably damaging Het
Sema3g G T 14: 30,949,823 (GRCm39) R668L probably damaging Het
Sprr2f T A 3: 92,273,204 (GRCm39) M1K probably null Het
Sult6b2 G A 6: 142,747,447 (GRCm39) P101S probably damaging Het
Trem3 G A 17: 48,556,864 (GRCm39) V112I probably benign Het
Ttll9 T A 2: 152,842,117 (GRCm39) F324I possibly damaging Het
Ttn T A 2: 76,557,104 (GRCm39) D29967V probably damaging Het
Ubr4 A G 4: 139,163,516 (GRCm39) K2639E probably damaging Het
Vwce T C 19: 10,641,982 (GRCm39) probably null Het
Zbtb14 T A 17: 69,694,690 (GRCm39) D129E probably benign Het
Zmym6 C T 4: 126,972,295 (GRCm39) Q16* probably null Het
Other mutations in Fam171a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Fam171a2 APN 11 102,328,674 (GRCm39) missense possibly damaging 0.92
IGL01898:Fam171a2 APN 11 102,330,582 (GRCm39) missense possibly damaging 0.88
IGL03272:Fam171a2 APN 11 102,334,944 (GRCm39) missense possibly damaging 0.58
R0102:Fam171a2 UTSW 11 102,334,939 (GRCm39) missense possibly damaging 0.88
R0102:Fam171a2 UTSW 11 102,334,939 (GRCm39) missense possibly damaging 0.88
R0632:Fam171a2 UTSW 11 102,328,707 (GRCm39) missense probably damaging 0.99
R0733:Fam171a2 UTSW 11 102,330,548 (GRCm39) missense possibly damaging 0.83
R1005:Fam171a2 UTSW 11 102,331,007 (GRCm39) missense probably benign 0.05
R1323:Fam171a2 UTSW 11 102,334,951 (GRCm39) missense probably damaging 0.99
R1323:Fam171a2 UTSW 11 102,334,951 (GRCm39) missense probably damaging 0.99
R2425:Fam171a2 UTSW 11 102,329,187 (GRCm39) missense possibly damaging 0.88
R4838:Fam171a2 UTSW 11 102,329,511 (GRCm39) missense possibly damaging 0.88
R4858:Fam171a2 UTSW 11 102,330,982 (GRCm39) missense probably damaging 1.00
R5119:Fam171a2 UTSW 11 102,329,559 (GRCm39) missense probably damaging 0.97
R5384:Fam171a2 UTSW 11 102,328,693 (GRCm39) missense possibly damaging 0.51
R5386:Fam171a2 UTSW 11 102,328,693 (GRCm39) missense possibly damaging 0.51
R5408:Fam171a2 UTSW 11 102,328,344 (GRCm39) missense possibly damaging 0.71
R5457:Fam171a2 UTSW 11 102,328,362 (GRCm39) missense possibly damaging 0.92
R5732:Fam171a2 UTSW 11 102,330,807 (GRCm39) missense possibly damaging 0.94
R6466:Fam171a2 UTSW 11 102,330,711 (GRCm39) missense probably damaging 1.00
R6931:Fam171a2 UTSW 11 102,329,260 (GRCm39) missense possibly damaging 0.95
R7196:Fam171a2 UTSW 11 102,329,172 (GRCm39) missense probably benign 0.04
R7261:Fam171a2 UTSW 11 102,328,900 (GRCm39) missense probably damaging 0.98
R7295:Fam171a2 UTSW 11 102,329,064 (GRCm39) missense possibly damaging 0.85
R7419:Fam171a2 UTSW 11 102,329,628 (GRCm39) missense possibly damaging 0.95
R7422:Fam171a2 UTSW 11 102,329,491 (GRCm39) missense probably benign 0.29
R7454:Fam171a2 UTSW 11 102,330,543 (GRCm39) missense possibly damaging 0.88
R7606:Fam171a2 UTSW 11 102,335,002 (GRCm39) missense possibly damaging 0.75
R7690:Fam171a2 UTSW 11 102,328,660 (GRCm39) missense probably benign 0.04
R7754:Fam171a2 UTSW 11 102,329,389 (GRCm39) missense probably benign 0.00
R7970:Fam171a2 UTSW 11 102,328,692 (GRCm39) missense possibly damaging 0.93
R8060:Fam171a2 UTSW 11 102,329,436 (GRCm39) missense possibly damaging 0.88
R8338:Fam171a2 UTSW 11 102,329,172 (GRCm39) missense probably benign 0.10
R8924:Fam171a2 UTSW 11 102,330,861 (GRCm39) missense possibly damaging 0.94
R8976:Fam171a2 UTSW 11 102,329,451 (GRCm39) missense possibly damaging 0.46
R9116:Fam171a2 UTSW 11 102,330,519 (GRCm39) missense probably damaging 0.98
R9155:Fam171a2 UTSW 11 102,329,497 (GRCm39) missense probably benign 0.28
R9346:Fam171a2 UTSW 11 102,328,771 (GRCm39) missense possibly damaging 0.87
Z1176:Fam171a2 UTSW 11 102,338,272 (GRCm39) missense unknown
Posted On 2015-04-16