Incidental Mutation 'R5438:Fam219a'
ID 428467
Institutional Source Beutler Lab
Gene Symbol Fam219a
Ensembl Gene ENSMUSG00000028439
Gene Name family with sequence similarity 219, member A
Synonyms 2310028H24Rik
MMRRC Submission 043003-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R5438 (G1)
Quality Score 173
Status Not validated
Chromosome 4
Chromosomal Location 41517691-41569538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41520302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 149 (S149P)
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 possibly damaging
Transcript: ENSMUST00000108049
AA Change: S138P

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103684
Gene: ENSMUSG00000028439
AA Change: S138P

DomainStartEndE-ValueType
Pfam:FAM219A 26 157 2.7e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108050
AA Change: S137P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000103685
Gene: ENSMUSG00000028439
AA Change: S137P

DomainStartEndE-ValueType
Pfam:FAM219A 26 156 8.9e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108052
AA Change: S149P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103687
Gene: ENSMUSG00000028439
AA Change: S149P

DomainStartEndE-ValueType
Pfam:FAM219A 37 168 1.6e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134546
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,538,165 (GRCm39) Q244K probably benign Het
Arpc2 T A 1: 74,275,995 (GRCm39) L4Q probably null Het
Atp7b C T 8: 22,504,570 (GRCm39) V581I probably benign Het
Bpifb9b T A 2: 154,151,288 (GRCm39) V3D possibly damaging Het
Capn13 A G 17: 73,633,479 (GRCm39) F525L probably benign Het
Cimip4 T C 15: 78,263,040 (GRCm39) T180A possibly damaging Het
Cmya5 G T 13: 93,231,707 (GRCm39) T1127K possibly damaging Het
Col6a4 A T 9: 105,890,895 (GRCm39) L1800I possibly damaging Het
Cpd T A 11: 76,682,792 (GRCm39) I1076F possibly damaging Het
Elp4 A G 2: 105,734,748 (GRCm39) F29S probably damaging Het
Exosc10 T A 4: 148,650,799 (GRCm39) Y448* probably null Het
Gdap2 A T 3: 100,085,629 (GRCm39) I184F probably damaging Het
Golgb1 A G 16: 36,720,870 (GRCm39) N409D probably benign Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Hvcn1 A G 5: 122,376,527 (GRCm39) K153R probably damaging Het
Ighv3-1 T A 12: 113,928,089 (GRCm39) H90L probably benign Het
Kcnn3 T A 3: 89,428,605 (GRCm39) L277Q probably damaging Het
Lama1 T A 17: 68,107,769 (GRCm39) S2128T possibly damaging Het
Ltbp1 T A 17: 75,598,321 (GRCm39) S919T probably damaging Het
Mgam A G 6: 40,661,455 (GRCm39) N1163S probably damaging Het
Mypn G T 10: 62,971,618 (GRCm39) C807* probably null Het
Or52n5 G A 7: 104,588,344 (GRCm39) V204I probably benign Het
Or5m8 T C 2: 85,822,925 (GRCm39) F255L probably damaging Het
Otud7a A G 7: 63,407,207 (GRCm39) N62S unknown Het
Pcdh18 A T 3: 49,710,465 (GRCm39) Y283* probably null Het
Ptger2 A T 14: 45,227,101 (GRCm39) H227L possibly damaging Het
Slc24a5 A G 2: 124,910,785 (GRCm39) Y72C probably damaging Het
Slc35f2 T A 9: 53,708,302 (GRCm39) D98E probably benign Het
Smad1 A T 8: 80,082,949 (GRCm39) F184I probably benign Het
Sncg C T 14: 34,095,637 (GRCm39) V52I probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Zc3h11a C T 1: 133,568,385 (GRCm39) R88H probably damaging Het
Zfp141 A G 7: 42,138,894 (GRCm39) V46A probably damaging Het
Zfp472 T A 17: 33,197,193 (GRCm39) C423S probably damaging Het
Zfp729a A T 13: 67,767,705 (GRCm39) H841Q possibly damaging 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
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
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'- CAGAGGTACACGTCCTACCATAG -3'
(R):5'- TCAGACCTGGCATGAGATGG -3'

Sequencing Primer
(F):5'- CAATGACTGTTACGAGGTTGGC -3'
(R):5'- CCTGGCATGAGATGGGGCTG -3'
Posted On 2016-09-01