Incidental Mutation 'R9289:Fam219a'
ID 704131
Institutional Source Beutler Lab
Gene Symbol Fam219a
Ensembl Gene ENSMUSG00000028439
Gene Name family with sequence similarity 219, member A
Synonyms 2310028H24Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R9289 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 41517691-41569538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 41521942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 46 (G46V)
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: G35V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103684
Gene: ENSMUSG00000028439
AA Change: G35V

DomainStartEndE-ValueType
Pfam:FAM219A 26 157 2.7e-60 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108050
AA Change: G35V

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103685
Gene: ENSMUSG00000028439
AA Change: G35V

DomainStartEndE-ValueType
Pfam:FAM219A 26 156 8.9e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108052
AA Change: G46V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103687
Gene: ENSMUSG00000028439
AA Change: G46V

DomainStartEndE-ValueType
Pfam:FAM219A 37 168 1.6e-57 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (53/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C T 5: 144,982,333 (GRCm39) T306I probably benign Het
Aurkb T C 11: 68,941,175 (GRCm39) I250T probably damaging Het
C1qtnf1 A G 11: 118,334,672 (GRCm39) T51A probably benign Het
C1rb G T 6: 124,552,272 (GRCm39) R330L possibly damaging Het
Cd8b1 G A 6: 71,306,777 (GRCm39) probably null Het
Cep57l1 A T 10: 41,607,082 (GRCm39) D160E probably damaging Het
Ces1f C T 8: 93,992,491 (GRCm39) S320N probably benign Het
Cfap54 A G 10: 92,656,936 (GRCm39) S3039P possibly damaging Het
Chia1 A T 3: 106,022,502 (GRCm39) probably benign Het
Chka T G 19: 3,935,953 (GRCm39) F220V possibly damaging Het
Cmtm2b A G 8: 105,048,980 (GRCm39) probably benign Het
Dgcr8 C T 16: 18,098,079 (GRCm39) probably benign Het
Dhx30 T C 9: 109,920,603 (GRCm39) T304A possibly damaging Het
Dhx30 A T 9: 109,922,189 (GRCm39) D164E probably benign Het
Dip2b A T 15: 100,071,152 (GRCm39) K661I probably damaging Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dop1b T A 16: 93,568,681 (GRCm39) L1581H probably damaging Het
Fer1l6 G A 15: 58,490,766 (GRCm39) V1028M probably damaging Het
Glb1 C A 9: 114,249,558 (GRCm39) A129E probably damaging Het
Heatr1 T C 13: 12,447,608 (GRCm39) V1767A probably benign Het
Ift88 T A 14: 57,718,199 (GRCm39) S591T probably benign Het
Itgb4 A G 11: 115,885,187 (GRCm39) K1023R probably benign Het
Mfng C A 15: 78,643,457 (GRCm39) S250I probably damaging Het
Mmp9 A G 2: 164,796,800 (GRCm39) T723A probably benign Het
Mzf1 T A 7: 12,785,534 (GRCm39) H299L probably benign Het
Naa40 T C 19: 7,211,485 (GRCm39) K47E possibly damaging Het
Ncdn A C 4: 126,643,903 (GRCm39) F306L possibly damaging Het
Notch3 A G 17: 32,377,254 (GRCm39) C246R probably damaging Het
Npc1l1 A T 11: 6,168,355 (GRCm39) Y945* probably null Het
Or2av9 T A 11: 58,380,745 (GRCm39) I279L probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or2y14 C T 11: 49,404,635 (GRCm39) P57S probably damaging Het
Or52n5 T C 7: 104,587,816 (GRCm39) W28R probably damaging Het
Pcnx1 C A 12: 82,028,853 (GRCm39) D1044E Het
Pgm2l1 T A 7: 99,919,629 (GRCm39) I575K probably damaging Het
Plat T C 8: 23,272,100 (GRCm39) I553T probably damaging Het
Prrc2c A G 1: 162,507,130 (GRCm39) V2513A probably benign Het
Qser1 A T 2: 104,617,593 (GRCm39) V983E possibly damaging Het
Ring1 A G 17: 34,241,547 (GRCm39) S190P possibly damaging Het
Rnf150 A G 8: 83,716,982 (GRCm39) E163G probably benign Het
Scgb2b12 T C 7: 32,026,060 (GRCm39) H44R probably benign Het
Septin4 T A 11: 87,459,792 (GRCm39) C513* probably null Het
Shtn1 T C 19: 58,998,257 (GRCm39) K379E probably damaging Het
Slc52a2 G T 15: 76,424,475 (GRCm39) V238L probably benign Het
Smg1 T C 7: 117,744,639 (GRCm39) H3171R possibly damaging Het
Tada3 A G 6: 113,347,264 (GRCm39) V342A possibly damaging Het
Tbc1d20 T C 2: 152,153,262 (GRCm39) V264A probably damaging Het
Tmco5 G A 2: 116,710,745 (GRCm39) A22T probably benign Het
Tmem63b A G 17: 45,975,697 (GRCm39) F549S probably benign Het
Trav16d-dv11 T C 14: 53,285,086 (GRCm39) F54S probably benign Het
Trim7 A T 11: 48,736,281 (GRCm39) K5* probably null Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Zfp78 T C 7: 6,381,367 (GRCm39) I139T probably benign Het
Zfp839 T A 12: 110,834,878 (GRCm39) V711D 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
R8389:Fam219a UTSW 4 41,520,935 (GRCm39) missense probably damaging 1.00
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
R9456:Fam219a UTSW 4 41,521,871 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCAGCCTGGGTAAAGAGTG -3'
(R):5'- GTTATGCATGTCCACCGAGC -3'

Sequencing Primer
(F):5'- CGTCAGCCAGAGCATATAAACAGG -3'
(R):5'- ATGTCCACCGAGCGTCAG -3'
Posted On 2022-03-25