Incidental Mutation 'IGL01302:Fam222a'
ID73269
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam222a
Ensembl Gene ENSMUSG00000041930
Gene Namefamily with sequence similarity 222, member A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL01302
Quality Score
Status
Chromosome5
Chromosomal Location114568016-114613220 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 114594453 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 23 (L23Q)
Ref Sequence ENSEMBL: ENSMUSP00000045724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043650]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043650
AA Change: L23Q

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045724
Gene: ENSMUSG00000041930
AA Change: L23Q

DomainStartEndE-ValueType
Pfam:FAM222A 30 157 8e-42 PFAM
low complexity region 181 202 N/A INTRINSIC
low complexity region 261 276 N/A INTRINSIC
low complexity region 288 298 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130983
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,399,470 probably benign Het
Abcb5 T A 12: 118,918,200 D598V probably damaging Het
Adssl1 T C 12: 112,634,736 probably benign Het
Akap9 T A 5: 3,970,711 S1141T probably benign Het
Avil T C 10: 127,017,034 probably null Het
Avl9 C A 6: 56,725,090 H77N probably damaging Het
Cacna1e A G 1: 154,443,907 V1349A probably damaging Het
Cdc23 A C 18: 34,634,644 S483A probably benign Het
Cep192 C T 18: 67,858,903 P1951S probably benign Het
Cp A G 3: 19,966,367 T175A probably damaging Het
Dubr A C 16: 50,732,635 noncoding transcript Het
Eif4g2 G T 7: 111,074,713 Q695K possibly damaging Het
Endod1 A T 9: 14,357,239 S317T possibly damaging Het
Ep400 T C 5: 110,742,048 T450A probably benign Het
Erc1 A C 6: 119,722,303 V790G probably damaging Het
Fam35a C T 14: 34,259,727 V485I probably benign Het
Fancf A G 7: 51,861,287 V323A probably benign Het
Grik2 T A 10: 49,244,330 Q621L probably damaging Het
Gsk3b G T 16: 38,220,018 R319L probably benign Het
Ikzf1 A G 11: 11,768,923 Y297C probably damaging Het
Katnal2 T C 18: 77,047,167 probably benign Het
Lrba G T 3: 86,295,400 C289F probably damaging Het
Mos T C 4: 3,871,815 probably benign Het
Mycn T C 12: 12,937,586 D270G possibly damaging Het
Olfr672 A T 7: 104,996,721 M61K probably damaging Het
Olfr777 T A 10: 129,268,523 I267F probably benign Het
Pclo A G 5: 14,675,999 probably benign Het
Pgm2 A G 4: 99,929,606 D14G probably damaging Het
Pramel7 T A 2: 87,491,373 D106V possibly damaging Het
Prdm9 G T 17: 15,553,346 H263N probably benign Het
Psd4 T A 2: 24,396,787 probably null Het
Ptprc G A 1: 138,099,631 T493I possibly damaging Het
Rbbp8 T A 18: 11,721,979 S420R probably benign Het
Sap30bp A G 11: 115,962,547 T219A probably damaging Het
Slc2a7 T A 4: 150,157,564 L200Q probably damaging Het
Slc38a6 T A 12: 73,288,525 probably null Het
Tatdn2 T A 6: 113,704,024 probably benign Het
Thrb A G 14: 18,011,056 probably benign Het
Timp4 T C 6: 115,246,308 Y218C possibly damaging Het
Tlr5 A G 1: 182,974,748 D525G probably benign Het
Usp32 G T 11: 84,988,482 T1467N probably benign Het
Vmn2r78 A G 7: 86,915,361 I5V unknown Het
Zbtb43 T C 2: 33,454,091 H374R probably benign Het
Zfhx4 C A 3: 5,243,568 T618K probably damaging Het
Other mutations in Fam222a
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4585001:Fam222a UTSW 5 114611040 missense probably damaging 1.00
R2296:Fam222a UTSW 5 114610966 missense possibly damaging 0.89
R3087:Fam222a UTSW 5 114611954 missense probably damaging 1.00
R4837:Fam222a UTSW 5 114594397 nonsense probably null
R5201:Fam222a UTSW 5 114611066 missense possibly damaging 0.67
R5516:Fam222a UTSW 5 114611828 missense probably damaging 1.00
Posted On2013-10-07