Incidental Mutation 'R1941:Fam117a'
ID 214025
Institutional Source Beutler Lab
Gene Symbol Fam117a
Ensembl Gene ENSMUSG00000038893
Gene Name family with sequence similarity 117, member A
Synonyms 5730593F17Rik
MMRRC Submission 039959-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.540) question?
Stock # R1941 (G1)
Quality Score 118
Status Not validated
Chromosome 11
Chromosomal Location 95227844-95272698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95271624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 399 (N399Y)
Ref Sequence ENSEMBL: ENSMUSP00000049162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021243] [ENSMUST00000037502] [ENSMUST00000131193] [ENSMUST00000146556] [ENSMUST00000232252]
AlphaFold Q7TNF9
Predicted Effect probably benign
Transcript: ENSMUST00000021243
SMART Domains Protein: ENSMUSP00000021243
Gene: ENSMUSG00000020873

DomainStartEndE-ValueType
Pfam:TPT 12 309 1.3e-14 PFAM
Pfam:UAA 13 313 2.1e-58 PFAM
Pfam:EamA 170 309 1.9e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000037502
AA Change: N399Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049162
Gene: ENSMUSG00000038893
AA Change: N399Y

DomainStartEndE-ValueType
low complexity region 3 27 N/A INTRINSIC
Pfam:FAM117 86 397 3.6e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131193
SMART Domains Protein: ENSMUSP00000125307
Gene: ENSMUSG00000020873

DomainStartEndE-ValueType
Pfam:UAA 14 91 5.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141284
Predicted Effect probably benign
Transcript: ENSMUST00000146556
SMART Domains Protein: ENSMUSP00000125597
Gene: ENSMUSG00000020873

DomainStartEndE-ValueType
low complexity region 14 23 N/A INTRINSIC
Pfam:EmrE 38 149 3.9e-9 PFAM
Pfam:UAA 46 153 4.5e-30 PFAM
Pfam:EamA 63 146 1.4e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189860
Predicted Effect probably benign
Transcript: ENSMUST00000232252
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.8%
  • 20x: 91.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b A C 7: 101,229,524 (GRCm39) F125C probably damaging Het
Camta1 T C 4: 151,159,612 (GRCm39) Y1616C probably damaging Het
Cep162 T G 9: 87,082,048 (GRCm39) I1286L probably benign Het
Chd9 T A 8: 91,703,697 (GRCm39) probably null Het
Col11a2 T A 17: 34,263,925 (GRCm39) S247T probably benign Het
Col6a4 T G 9: 105,952,209 (GRCm39) D563A probably benign Het
Crebbp C T 16: 3,997,555 (GRCm39) M176I probably benign Het
Cyp4a12b A G 4: 115,295,256 (GRCm39) N454S probably damaging Het
Dhx8 T C 11: 101,643,024 (GRCm39) probably null Het
Dock7 G A 4: 98,872,952 (GRCm39) L1165F probably benign Het
Fmn1 A G 2: 113,195,488 (GRCm39) K396R unknown Het
Foxk1 T A 5: 142,442,429 (GRCm39) V693E possibly damaging Het
Gml A G 15: 74,689,020 (GRCm39) L10P probably damaging Het
Gpx8 A G 13: 113,182,809 (GRCm39) L34P probably damaging Het
Kank2 A G 9: 21,684,162 (GRCm39) L689P possibly damaging Het
Mt4 G A 8: 94,864,874 (GRCm39) C16Y possibly damaging Het
Naa15 C A 3: 51,363,355 (GRCm39) Y346* probably null Het
Ntrk3 C T 7: 77,897,010 (GRCm39) V676I probably damaging Het
Oasl2 G A 5: 115,049,423 (GRCm39) probably benign Het
Or1e1c T A 11: 73,266,447 (GRCm39) F294I probably damaging Het
Or6c215 T A 10: 129,638,281 (GRCm39) M38L probably benign Het
Or6c8 T G 10: 128,915,823 (GRCm39) N3T probably damaging Het
Or7e169 G A 9: 19,757,246 (GRCm39) S223F probably damaging Het
Or7g20 A C 9: 18,947,162 (GRCm39) T248P possibly damaging Het
Otud7a C T 7: 63,379,574 (GRCm39) R273* probably null Het
Pcare T G 17: 72,059,063 (GRCm39) T205P probably damaging Het
Pde11a C T 2: 76,121,594 (GRCm39) R329Q probably benign Het
Pga5 G T 19: 10,646,820 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,441,528 (GRCm39) probably null Het
Pus10 A G 11: 23,661,198 (GRCm39) Q262R possibly damaging Het
Rbm17 T C 2: 11,593,885 (GRCm39) K241R possibly damaging Het
Rp1l1 T G 14: 64,259,701 (GRCm39) D114E probably damaging Het
Safb T A 17: 56,905,992 (GRCm39) probably benign Het
Sgpl1 T C 10: 60,939,086 (GRCm39) Y371C probably damaging Het
Siglec1 C A 2: 130,920,051 (GRCm39) A827S possibly damaging Het
Smg5 T A 3: 88,252,687 (GRCm39) S158T possibly damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spaca6 A G 17: 18,058,664 (GRCm39) I71V probably benign Het
Spaca6 A G 17: 18,058,692 (GRCm39) E80G probably damaging Het
Steap1 C A 5: 5,790,541 (GRCm39) A136S probably damaging Het
Supv3l1 G C 10: 62,285,391 (GRCm39) P25R probably benign Het
Tex21 T C 12: 76,268,458 (GRCm39) K108R possibly damaging Het
Tnc A G 4: 63,933,201 (GRCm39) Y688H probably damaging Het
Tnr G A 1: 159,677,704 (GRCm39) E30K possibly damaging Het
Tnrc18 G T 5: 142,800,905 (GRCm39) P18T probably damaging Het
Ttk T G 9: 83,735,179 (GRCm39) S422A probably benign Het
Ubap1 A G 4: 41,378,968 (GRCm39) K61E probably damaging Het
Ubr2 C T 17: 47,284,952 (GRCm39) R522H probably damaging Het
Vwf A T 6: 125,616,242 (GRCm39) E1185D possibly damaging Het
Wwp2 A G 8: 108,244,547 (GRCm39) T194A probably benign Het
Zfp36 A G 7: 28,077,071 (GRCm39) V279A probably damaging Het
Zfp870 C A 17: 33,101,778 (GRCm39) R517L possibly damaging Het
Other mutations in Fam117a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02821:Fam117a APN 11 95,254,815 (GRCm39) splice site probably benign
IGL03027:Fam117a APN 11 95,268,399 (GRCm39) missense probably benign 0.00
R0328:Fam117a UTSW 11 95,266,452 (GRCm39) splice site probably benign
R0603:Fam117a UTSW 11 95,271,699 (GRCm39) missense probably damaging 0.99
R1779:Fam117a UTSW 11 95,269,779 (GRCm39) missense probably damaging 1.00
R4801:Fam117a UTSW 11 95,254,896 (GRCm39) missense probably damaging 0.99
R4802:Fam117a UTSW 11 95,254,896 (GRCm39) missense probably damaging 0.99
R5328:Fam117a UTSW 11 95,254,996 (GRCm39) critical splice donor site probably null
R5368:Fam117a UTSW 11 95,266,459 (GRCm39) missense probably damaging 0.98
R6166:Fam117a UTSW 11 95,271,607 (GRCm39) missense possibly damaging 0.89
R6267:Fam117a UTSW 11 95,254,971 (GRCm39) missense possibly damaging 0.93
R6296:Fam117a UTSW 11 95,254,971 (GRCm39) missense possibly damaging 0.93
R7077:Fam117a UTSW 11 95,268,498 (GRCm39) missense probably benign 0.01
R7354:Fam117a UTSW 11 95,271,529 (GRCm39) missense probably damaging 1.00
R7670:Fam117a UTSW 11 95,269,660 (GRCm39) missense probably benign 0.00
R7673:Fam117a UTSW 11 95,262,322 (GRCm39) missense probably benign 0.15
R8176:Fam117a UTSW 11 95,227,965 (GRCm39) missense unknown
R8984:Fam117a UTSW 11 95,254,823 (GRCm39) critical splice acceptor site probably null
R9134:Fam117a UTSW 11 95,271,745 (GRCm39) nonsense probably null
R9250:Fam117a UTSW 11 95,228,071 (GRCm39) missense possibly damaging 0.83
R9367:Fam117a UTSW 11 95,271,570 (GRCm39) missense probably damaging 1.00
R9780:Fam117a UTSW 11 95,268,309 (GRCm39) missense possibly damaging 0.84
Z1088:Fam117a UTSW 11 95,262,350 (GRCm39) missense possibly damaging 0.50
Z1177:Fam117a UTSW 11 95,265,851 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTTTGAGCAGGAACCCAGC -3'
(R):5'- CCAAGGCACTAGTCTCCATG -3'

Sequencing Primer
(F):5'- TGAGGCAGTCACCCTTCCAG -3'
(R):5'- GCACTAGTCTCCATGGTAAAGTG -3'
Posted On 2014-07-14