Incidental Mutation 'IGL02104:Fam117b'
ID279870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam117b
Ensembl Gene ENSMUSG00000041040
Gene Namefamily with sequence similarity 117, member B
Synonyms6330416D14Rik, 2810425F24Rik, Als2cr13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL02104
Quality Score
Status
Chromosome1
Chromosomal Location59913006-59985346 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 59949119 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 219 (T219I)
Ref Sequence ENSEMBL: ENSMUSP00000041671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036540]
AlphaFold Q3U3E2
Predicted Effect probably benign
Transcript: ENSMUST00000036540
AA Change: T219I

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041671
Gene: ENSMUSG00000041040
AA Change: T219I

DomainStartEndE-ValueType
low complexity region 9 29 N/A INTRINSIC
low complexity region 50 104 N/A INTRINSIC
low complexity region 114 144 N/A INTRINSIC
Pfam:FAM117 211 524 2.9e-125 PFAM
low complexity region 531 542 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188150
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 125,331,542 noncoding transcript Het
Abcb5 T A 12: 118,940,680 Q125L probably damaging Het
Acap3 G A 4: 155,905,085 R662H probably damaging Het
Aox4 T A 1: 58,236,657 probably benign Het
Aqp6 T C 15: 99,604,278 S285P probably benign Het
Arhgef5 A T 6: 43,272,411 Q32L probably damaging Het
B3gnt6 G T 7: 98,194,101 D217E probably damaging Het
Chd6 T C 2: 160,977,512 I1338V probably benign Het
Clic6 A G 16: 92,498,479 E9G possibly damaging Het
Col11a1 T A 3: 114,181,397 probably null Het
Dcdc2b T A 4: 129,611,074 D88V probably benign Het
Dis3l T A 9: 64,310,329 K791N possibly damaging Het
Dmxl2 A T 9: 54,404,015 Y1008* probably null Het
Dnah11 A G 12: 118,192,390 V175A probably benign Het
Efl1 A G 7: 82,658,055 probably null Het
Fgf21 T A 7: 45,615,224 Q28L probably benign Het
Folh1 T C 7: 86,744,430 Q391R possibly damaging Het
Gars A G 6: 55,077,697 D663G probably damaging Het
Lats2 A G 14: 57,734,012 F69L probably damaging Het
Lrp2 C T 2: 69,510,418 V1038M probably damaging Het
Map3k1 A T 13: 111,756,243 V826E probably damaging Het
Mapkap1 T A 2: 34,623,470 Y497* probably null Het
Mast3 T C 8: 70,787,906 I296V possibly damaging Het
Mon1a T G 9: 107,901,615 L346R probably damaging Het
Mphosph8 T C 14: 56,674,579 L353S probably benign Het
Muc5ac T C 7: 141,811,078 Y2634H probably damaging Het
Mylk A G 16: 34,815,435 T9A probably benign Het
Olfr1031 G T 2: 85,992,386 D190Y probably damaging Het
Olfr1440 T A 19: 12,394,899 V212D probably damaging Het
Olfr1484 T A 19: 13,585,604 M57K probably damaging Het
Olfr418 T C 1: 173,271,036 V287A probably damaging Het
Olfr543 C A 7: 102,477,337 V178F probably damaging Het
Olfr761 A C 17: 37,952,291 H244Q probably damaging Het
Olfr843 A T 9: 19,248,870 H176Q probably benign Het
Pabpc2 A C 18: 39,774,883 Q400H possibly damaging Het
Pigg A G 5: 108,342,097 Y856C probably damaging Het
Plekhn1 A T 4: 156,222,408 V508E probably benign Het
Pom121l2 C A 13: 21,982,275 H239N possibly damaging Het
Prdm2 A G 4: 143,133,427 S1098P probably benign Het
Rnf212 A G 5: 108,747,440 I41T possibly damaging Het
Rngtt A G 4: 33,320,517 probably null Het
Rpn2 C T 2: 157,321,827 T613M probably damaging Het
Scd4 G T 19: 44,344,747 V304F possibly damaging Het
Sez6l A G 5: 112,426,764 probably benign Het
Shroom3 A G 5: 92,940,389 R158G probably benign Het
Stil T C 4: 115,041,482 L1103P probably damaging Het
Tanc2 T C 11: 105,780,133 probably benign Het
Tmc1 C T 19: 20,832,454 D255N probably benign Het
Trank1 C A 9: 111,390,712 D2172E possibly damaging Het
Tyro3 G A 2: 119,813,200 R718H probably damaging Het
Vamp2 C A 11: 69,090,657 F114L probably benign Het
Wdr66 T A 5: 123,302,698 L1106* probably null Het
Other mutations in Fam117b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Fam117b APN 1 59969018 missense probably damaging 0.99
IGL01596:Fam117b APN 1 59952971 nonsense probably null
IGL02129:Fam117b APN 1 59981423 missense probably benign 0.07
IGL03387:Fam117b APN 1 59952960 missense probably benign 0.26
R0690:Fam117b UTSW 1 59958353 missense possibly damaging 0.65
R1074:Fam117b UTSW 1 59958326 missense possibly damaging 0.88
R1435:Fam117b UTSW 1 59969063 missense possibly damaging 0.80
R2215:Fam117b UTSW 1 59969060 missense probably damaging 1.00
R2267:Fam117b UTSW 1 59913630 missense probably damaging 1.00
R2268:Fam117b UTSW 1 59913630 missense probably damaging 1.00
R5765:Fam117b UTSW 1 59970472 splice site probably null
R6228:Fam117b UTSW 1 59969048 missense probably damaging 1.00
R6439:Fam117b UTSW 1 59981572 missense probably benign 0.45
R6921:Fam117b UTSW 1 59952935 missense probably damaging 1.00
R7633:Fam117b UTSW 1 59981534 missense probably damaging 1.00
R7827:Fam117b UTSW 1 59913678 missense possibly damaging 0.94
R7867:Fam117b UTSW 1 59974887 missense probably damaging 0.98
R8305:Fam117b UTSW 1 59913623 missense probably benign 0.18
X0004:Fam117b UTSW 1 59974978 missense probably damaging 0.96
Posted On2015-04-16