Incidental Mutation 'R8389:Fam219a'
ID 647270
Institutional Source Beutler Lab
Gene Symbol Fam219a
Ensembl Gene ENSMUSG00000028439
Gene Name family with sequence similarity 219, member A
Synonyms 2310028H24Rik
MMRRC Submission 067754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R8389 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 41517691-41569538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41520935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 109 (S109P)
Ref Sequence ENSEMBL: ENSMUSP00000103687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000095126] [ENSMUST00000108049] [ENSMUST00000108050] [ENSMUST00000108052]
AlphaFold Q9D772
Predicted Effect probably benign
Transcript: ENSMUST00000030152
SMART Domains Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441

DomainStartEndE-ValueType
Pfam:SMRP1 1 260 3.3e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095126
SMART Domains Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441

DomainStartEndE-ValueType
Pfam:SMRP1 1 202 6.5e-102 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108049
AA Change: S98P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103684
Gene: ENSMUSG00000028439
AA Change: S98P

DomainStartEndE-ValueType
Pfam:FAM219A 26 157 2.7e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108050
AA Change: S98P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103685
Gene: ENSMUSG00000028439
AA Change: S98P

DomainStartEndE-ValueType
Pfam:FAM219A 26 156 8.9e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108052
AA Change: S109P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103687
Gene: ENSMUSG00000028439
AA Change: S109P

DomainStartEndE-ValueType
Pfam:FAM219A 37 168 1.6e-57 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl C T 1: 66,893,906 (GRCm39) G83E probably damaging Het
Adamtsl2 A G 2: 26,993,136 (GRCm39) D722G possibly damaging Het
Akap11 A T 14: 78,756,322 (GRCm39) D25E Het
Akr1c21 C T 13: 4,626,278 (GRCm39) R101W probably damaging Het
Ano2 T C 6: 125,957,132 (GRCm39) Y634H probably damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Cfap221 T C 1: 119,851,301 (GRCm39) E820G probably damaging Het
Chad A G 11: 94,458,718 (GRCm39) D289G probably benign Het
Col4a2 C A 8: 11,498,132 (GRCm39) A1647E probably damaging Het
Dhx32 G T 7: 133,326,935 (GRCm39) T522K possibly damaging Het
Eloa A G 4: 135,733,622 (GRCm39) V707A probably benign Het
Ftl1 A T 7: 45,108,651 (GRCm39) F36I probably benign Het
Furin C T 7: 80,040,627 (GRCm39) R737Q probably benign Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gpt C T 15: 76,583,242 (GRCm39) T393M probably damaging Het
Greb1l A T 18: 10,529,613 (GRCm39) D865V probably benign Het
Ifi207 GTT GT 1: 173,557,016 (GRCm39) probably null Het
Klk1b11 G A 7: 43,649,120 (GRCm39) C219Y probably damaging Het
Lcn11 A T 2: 25,669,043 (GRCm39) D117V probably damaging Het
Lrpprc A T 17: 85,080,742 (GRCm39) V161D possibly damaging Het
Lrrk2 T C 15: 91,584,194 (GRCm39) L318S probably damaging Het
Muc5b A G 7: 141,415,516 (GRCm39) T2821A possibly damaging Het
Mysm1 A G 4: 94,853,849 (GRCm39) M250T probably benign Het
Nol12 A G 15: 78,819,268 (GRCm39) K27E probably damaging Het
Omg T A 11: 79,393,001 (GRCm39) M286L probably benign Het
Or4c100 G A 2: 88,355,931 (GRCm39) M1I probably null Het
Or8g32 A G 9: 39,305,912 (GRCm39) K272R probably damaging Het
Pdyn A G 2: 129,530,357 (GRCm39) L104P probably benign Het
Pira2 A C 7: 3,846,888 (GRCm39) L218R probably damaging Het
Pnpt1 A T 11: 29,080,758 (GRCm39) M1L unknown Het
Pofut2 C T 10: 77,101,785 (GRCm39) T274M probably benign Het
Pramel34 A T 5: 93,785,587 (GRCm39) F231Y probably benign Het
Rbm12b1 C A 4: 12,146,363 (GRCm39) D778E probably damaging Het
Srsf12 C G 4: 33,226,070 (GRCm39) P111R probably damaging Het
Tbc1d14 G A 5: 36,687,792 (GRCm39) probably benign Het
Tcf23 A G 5: 31,127,464 (GRCm39) K89E probably benign Het
Tmem74 C T 15: 43,730,315 (GRCm39) G243R probably damaging Het
Ufd1 T C 16: 18,639,853 (GRCm39) V119A possibly damaging Het
Vmn2r72 A T 7: 85,401,168 (GRCm39) Y84N probably damaging Het
Zfp120 A T 2: 149,959,327 (GRCm39) C354S probably damaging Het
Zfp69 G A 4: 120,806,549 (GRCm39) T28I possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp959 T C 17: 56,204,299 (GRCm39) V112A probably benign Het
Zfr2 T A 10: 81,081,323 (GRCm39) W458R probably benign Het
Other mutations in Fam219a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Fam219a APN 4 41,521,684 (GRCm39) missense probably benign 0.34
R0607:Fam219a UTSW 4 41,520,242 (GRCm39) makesense probably null
R4362:Fam219a UTSW 4 41,518,844 (GRCm39) utr 3 prime probably benign
R4659:Fam219a UTSW 4 41,521,645 (GRCm39) missense probably null 0.56
R5438:Fam219a UTSW 4 41,520,302 (GRCm39) missense probably damaging 0.98
R7025:Fam219a UTSW 4 41,521,925 (GRCm39) missense probably benign 0.07
R7563:Fam219a UTSW 4 41,569,208 (GRCm39) missense probably benign
R8701:Fam219a UTSW 4 41,520,283 (GRCm39) missense probably damaging 0.99
R9109:Fam219a UTSW 4 41,521,870 (GRCm39) missense probably damaging 1.00
R9289:Fam219a UTSW 4 41,521,942 (GRCm39) missense probably damaging 1.00
R9456:Fam219a UTSW 4 41,521,871 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTCGCTGTAATTCAGGTTAG -3'
(R):5'- AGCTAGGAAACCTGCCTTAGC -3'

Sequencing Primer
(F):5'- CAGGTTAGTGATTTCTTCCCAAATTC -3'
(R):5'- ATCATACTGTTGGGAGGG -3'
Posted On 2020-09-02