Incidental Mutation 'R3763:Fam118a'
ID 270608
Institutional Source Beutler Lab
Gene Symbol Fam118a
Ensembl Gene ENSMUSG00000022434
Gene Name family with sequence similarity 118, member A
Synonyms 3110048E14Rik, C230014M12Rik
MMRRC Submission 040873-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.239) question?
Stock # R3763 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 84913149-84947031 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84937998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 293 (D293G)
Ref Sequence ENSEMBL: ENSMUSP00000154985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023069] [ENSMUST00000229203]
AlphaFold Q91YN1
Predicted Effect possibly damaging
Transcript: ENSMUST00000023069
AA Change: D293G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023069
Gene: ENSMUSG00000022434
AA Change: D293G

DomainStartEndE-ValueType
Pfam:SIR2_2 142 286 7.8e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229153
Predicted Effect possibly damaging
Transcript: ENSMUST00000229203
AA Change: D293G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229691
Meta Mutation Damage Score 0.0706 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,760,331 (GRCm39) E29G possibly damaging Het
Aff3 A G 1: 38,291,770 (GRCm39) probably benign Het
AW146154 A G 7: 41,129,794 (GRCm39) C441R probably damaging Het
Cacna1a T C 8: 85,310,271 (GRCm39) V1443A possibly damaging Het
Commd1 T A 11: 22,924,102 (GRCm39) F292Y probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
Ddx18 A G 1: 121,489,106 (GRCm39) Y314H probably damaging Het
Dna2 C T 10: 62,802,576 (GRCm39) T898I probably damaging Het
Epc1 C A 18: 6,440,091 (GRCm39) V59L possibly damaging Het
Etv6 C A 6: 134,239,975 (GRCm39) probably benign Het
Gzmn A C 14: 56,404,361 (GRCm39) S159A probably benign Het
Insc A G 7: 114,390,207 (GRCm39) D26G probably damaging Het
L1td1 A G 4: 98,626,072 (GRCm39) R756G probably damaging Het
Ltk A G 2: 119,582,318 (GRCm39) L499P probably benign Het
Mast4 A T 13: 102,923,927 (GRCm39) L291M probably damaging Het
Nefm G T 14: 68,361,797 (GRCm39) R156S probably damaging Het
Nppc T A 1: 86,597,580 (GRCm39) N63Y probably damaging Het
Or5p79 A T 7: 108,221,924 (GRCm39) I302F probably damaging Het
Or6c69 A G 10: 129,747,314 (GRCm39) S278P probably damaging Het
Pcdhb7 T C 18: 37,474,936 (GRCm39) V24A probably benign Het
Pcm1 C A 8: 41,733,114 (GRCm39) Q787K probably damaging Het
Prg3 A G 2: 84,823,334 (GRCm39) K170E possibly damaging Het
Slc25a54 T C 3: 109,019,370 (GRCm39) S325P probably damaging Het
Slc44a1 T C 4: 53,563,286 (GRCm39) V671A probably benign Het
Spock3 T A 8: 63,597,049 (GRCm39) probably null Het
Stk-ps2 G A 1: 46,069,081 (GRCm39) noncoding transcript Het
Svep1 T G 4: 58,084,833 (GRCm39) D1835A possibly damaging Het
Tmcc3 A G 10: 94,415,179 (GRCm39) T294A probably benign Het
Tsen54 A G 11: 115,711,237 (GRCm39) N62S probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn2r18 G A 5: 151,508,644 (GRCm39) A160V probably damaging Het
Wnk4 T C 11: 101,160,114 (GRCm39) V661A probably benign Het
Zfhx4 A G 3: 5,468,404 (GRCm39) Y2854C probably damaging Het
Zfp563 G T 17: 33,323,902 (GRCm39) E166* probably null Het
Zfp687 T A 3: 94,919,391 (GRCm39) N127I probably damaging Het
Zfp958 T A 8: 4,676,226 (GRCm39) probably null Het
Other mutations in Fam118a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0172:Fam118a UTSW 15 84,929,951 (GRCm39) missense probably benign 0.07
R0178:Fam118a UTSW 15 84,930,081 (GRCm39) unclassified probably benign
R0414:Fam118a UTSW 15 84,929,890 (GRCm39) missense probably damaging 1.00
R0531:Fam118a UTSW 15 84,932,633 (GRCm39) missense possibly damaging 0.49
R0853:Fam118a UTSW 15 84,932,726 (GRCm39) missense possibly damaging 0.67
R3621:Fam118a UTSW 15 84,930,002 (GRCm39) missense probably damaging 0.99
R4871:Fam118a UTSW 15 84,942,969 (GRCm39) missense probably damaging 1.00
R5309:Fam118a UTSW 15 84,934,956 (GRCm39) missense probably damaging 1.00
R5527:Fam118a UTSW 15 84,942,999 (GRCm39) missense probably benign
R5725:Fam118a UTSW 15 84,929,822 (GRCm39) missense probably damaging 1.00
R6927:Fam118a UTSW 15 84,929,038 (GRCm39) critical splice donor site probably null
R7684:Fam118a UTSW 15 84,942,982 (GRCm39) missense possibly damaging 0.59
R7845:Fam118a UTSW 15 84,930,052 (GRCm39) missense possibly damaging 0.94
R7904:Fam118a UTSW 15 84,929,834 (GRCm39) missense probably damaging 1.00
R9064:Fam118a UTSW 15 84,930,039 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACTTCGGGACCAGATATTC -3'
(R):5'- TTGGAGCAGAAGTCTCAAGTTC -3'

Sequencing Primer
(F):5'- TTCGGGACCAGATATTCCAGGC -3'
(R):5'- GCAGAAGTCTCAAGTTCTACTTACAG -3'
Posted On 2015-03-18