Incidental Mutation 'R9780:Fam117a'
ID 733991
Institutional Source Beutler Lab
Gene Symbol Fam117a
Ensembl Gene ENSMUSG00000038893
Gene Name family with sequence similarity 117, member A
Synonyms 5730593F17Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.602) question?
Stock # R9780 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 95227844-95272698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95268309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 237 (I237L)
Ref Sequence ENSEMBL: ENSMUSP00000049162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037502]
AlphaFold Q7TNF9
Predicted Effect possibly damaging
Transcript: ENSMUST00000037502
AA Change: I237L

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049162
Gene: ENSMUSG00000038893
AA Change: I237L

DomainStartEndE-ValueType
low complexity region 3 27 N/A INTRINSIC
Pfam:FAM117 86 397 3.6e-116 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,911,447 (GRCm39) T1344A probably benign Het
Actrt3 T A 3: 30,652,876 (GRCm39) I73F probably damaging Het
Ankrd24 T C 10: 81,482,196 (GRCm39) S915P possibly damaging Het
Ano1 A T 7: 144,209,358 (GRCm39) F281I probably damaging Het
Arhgap42 A G 9: 9,059,102 (GRCm39) V148A probably benign Het
Arnt2 A G 7: 83,954,426 (GRCm39) I256T probably benign Het
Bloc1s3 G A 7: 19,241,408 (GRCm39) S40L possibly damaging Het
Cep68 G A 11: 20,192,142 (GRCm39) P19L probably benign Het
Chst9 T A 18: 15,586,221 (GRCm39) Q114L probably benign Het
Cpa2 T A 6: 30,545,536 (GRCm39) F106I probably benign Het
Cplane1 A G 15: 8,258,123 (GRCm39) E2123G probably benign Het
Crocc T C 4: 140,756,556 (GRCm39) D1187G probably benign Het
Dhx8 A T 11: 101,632,403 (GRCm39) D454V possibly damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Eif3a A T 19: 60,766,398 (GRCm39) L310H probably damaging Het
Ergic3 C A 2: 155,853,164 (GRCm39) Y202* probably null Het
Fcsk T C 8: 111,613,743 (GRCm39) M773V probably benign Het
Gcnt4 T A 13: 97,083,948 (GRCm39) S415T probably benign Het
Hacl1 C A 14: 31,362,519 (GRCm39) V43L possibly damaging Het
Hbb-bh2 A G 7: 103,489,624 (GRCm39) L4P probably damaging Het
Hmbs A G 9: 44,247,985 (GRCm39) L357P probably damaging Het
Hpcal1 A G 12: 17,836,494 (GRCm39) Y108C probably damaging Het
Hspa14 A T 2: 3,490,741 (GRCm39) M482K probably damaging Het
Ifi27l2b G T 12: 103,417,461 (GRCm39) P242Q unknown Het
Insyn1 A G 9: 58,406,881 (GRCm39) N264D probably damaging Het
Itpr1 T C 6: 108,487,795 (GRCm39) V2407A probably benign Het
Lcp1 T C 14: 75,440,178 (GRCm39) F154S probably damaging Het
Lmod2 T C 6: 24,604,233 (GRCm39) S403P probably damaging Het
Lrrc63 G A 14: 75,360,500 (GRCm39) A334V probably damaging Het
Lrriq1 T A 10: 103,025,824 (GRCm39) T933S probably damaging Het
Mga A G 2: 119,747,253 (GRCm39) Y468C probably benign Het
Msh4 T C 3: 153,582,342 (GRCm39) Y510C probably damaging Het
Myh11 T C 16: 14,064,613 (GRCm39) K235R Het
Nek2 A T 1: 191,554,738 (GRCm39) D150V probably damaging Het
Nfkbil1 C A 17: 35,439,898 (GRCm39) R205L possibly damaging Het
Nox3 A G 17: 3,736,260 (GRCm39) F122S possibly damaging Het
Nrxn1 A G 17: 90,931,042 (GRCm39) V718A possibly damaging Het
Oplah A G 15: 76,181,940 (GRCm39) I1061T probably damaging Het
Or13e8 G A 4: 43,697,193 (GRCm39) probably benign Het
Or2y16 G A 11: 49,335,014 (GRCm39) C112Y possibly damaging Het
Or51b17 A G 7: 103,542,631 (GRCm39) S104P probably damaging Het
Or9m1 A G 2: 87,733,426 (GRCm39) L198P probably damaging Het
Pcf11 A T 7: 92,313,313 (GRCm39) D123E possibly damaging Het
Pcna C T 2: 132,094,794 (GRCm39) E55K probably benign Het
Pip5k1c T C 10: 81,141,030 (GRCm39) V46A probably benign Het
Plce1 T G 19: 38,609,134 (GRCm39) L481R possibly damaging Het
Psma7 A T 2: 179,678,339 (GRCm39) Y228N unknown Het
Rcbtb1 T A 14: 59,465,796 (GRCm39) Y380N probably benign Het
Rin2 A T 2: 145,718,551 (GRCm39) E677V probably damaging Het
Scgb2b11 A G 7: 31,909,861 (GRCm39) L75P probably damaging Het
Scn4a A G 11: 106,226,235 (GRCm39) V775A probably damaging Het
Setx A G 2: 29,016,999 (GRCm39) D34G possibly damaging Het
Slc38a9 A T 13: 112,862,591 (GRCm39) D430V probably damaging Het
Snapc4 A T 2: 26,267,019 (GRCm39) N77K possibly damaging Het
Stk32a T G 18: 43,375,049 (GRCm39) F20V probably benign Het
Taf1b G A 12: 24,564,818 (GRCm39) G145D probably damaging Het
Tomt G C 7: 101,549,536 (GRCm39) Q251E probably benign Het
Tsc1 G A 2: 28,565,761 (GRCm39) E471K probably damaging Het
Ttll9 G A 2: 152,836,023 (GRCm39) A256T possibly damaging Het
Ttn A T 2: 76,774,289 (GRCm39) C2252S probably benign Het
Ttn A T 2: 76,785,035 (GRCm39) D797E unknown Het
Usf3 T A 16: 44,039,181 (GRCm39) N1220K possibly damaging Het
Usp22 A T 11: 61,050,069 (GRCm39) H355Q probably benign Het
Virma T A 4: 11,513,442 (GRCm39) V432E possibly damaging Het
Vtn A C 11: 78,393,003 (GRCm39) D456A probably damaging Het
Zbbx A G 3: 74,945,359 (GRCm39) S688P probably damaging Het
Zfhx2 C A 14: 55,312,494 (GRCm39) D67Y probably benign Het
Zfp87 T C 13: 67,665,241 (GRCm39) H407R probably 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
R1941:Fam117a UTSW 11 95,271,624 (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
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'- GGGCACTGATCACATCACAC -3'
(R):5'- GGATGGATGCTAGTTCCTCG -3'

Sequencing Primer
(F):5'- TCACACAAATGAACGTGACTGTAG -3'
(R):5'- ATGCTAGTTCCTCGGTGGCAC -3'
Posted On 2022-11-14