Incidental Mutation 'IGL01820:Fam131c'
ID154492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam131c
Ensembl Gene ENSMUSG00000006218
Gene Namefamily with sequence similarity 131, member C
SynonymsLOC277743
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01820
Quality Score
Status
Chromosome4
Chromosomal Location141368220-141384175 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 141380337 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 53 (C53R)
Ref Sequence ENSEMBL: ENSMUSP00000006380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006380] [ENSMUST00000042617] [ENSMUST00000105790]
Predicted Effect probably damaging
Transcript: ENSMUST00000006380
AA Change: C53R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006380
Gene: ENSMUSG00000006218
AA Change: C53R

DomainStartEndE-ValueType
Pfam:FAM131 62 258 1.4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042617
SMART Domains Protein: ENSMUSP00000048520
Gene: ENSMUSG00000033770

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
Pfam:Voltage_CLC 102 514 2.1e-69 PFAM
CBS 554 604 6.54e-6 SMART
Pfam:CBS 623 679 5.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105790
SMART Domains Protein: ENSMUSP00000101416
Gene: ENSMUSG00000033770

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
Pfam:Voltage_CLC 101 514 3.1e-75 PFAM
CBS 554 604 6.54e-6 SMART
Blast:CBS 629 678 1e-20 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,715,896 probably benign Het
Adcy2 T C 13: 68,738,545 probably null Het
Akna G T 4: 63,386,258 T553N probably benign Het
Boc A G 16: 44,491,872 I609T possibly damaging Het
Btbd9 C T 17: 30,527,409 V148I possibly damaging Het
Cacna1d A T 14: 30,042,866 I2049N possibly damaging Het
Cdhr1 A T 14: 37,085,579 M368K probably benign Het
Cftr A G 6: 18,226,139 Y362C probably damaging Het
Cnppd1 G T 1: 75,139,592 probably null Het
Col3a1 T C 1: 45,321,608 I66T unknown Het
Col5a2 C A 1: 45,442,825 M46I unknown Het
Csmd3 G T 15: 47,607,142 C3379* probably null Het
Ctla2b T A 13: 60,896,689 *28C probably null Het
Ddhd2 C T 8: 25,749,754 E33K possibly damaging Het
Dock3 T C 9: 106,895,893 H387R probably damaging Het
Dyrk1b T A 7: 28,181,600 probably benign Het
Fat1 T A 8: 45,010,502 F1360L probably damaging Het
Gm10320 G T 13: 98,489,537 S113* probably null Het
Ifih1 T C 2: 62,617,313 D349G probably damaging Het
Il12a T C 3: 68,692,162 probably benign Het
Ivl A T 3: 92,571,633 M375K possibly damaging Het
Krt82 C A 15: 101,543,452 probably benign Het
Mc4r C T 18: 66,859,155 V296I probably benign Het
Met T A 6: 17,534,231 I691N possibly damaging Het
Mycbp2 A T 14: 103,188,501 I2396K probably damaging Het
Napg C A 18: 62,986,445 Q135K probably benign Het
Nf2 A T 11: 4,789,655 probably null Het
Nrxn1 G T 17: 90,643,103 H549Q probably damaging Het
P4ha1 T A 10: 59,361,914 I321K probably damaging Het
Prl5a1 T C 13: 28,148,700 S94P probably benign Het
Prnp T C 2: 131,937,070 V214A probably benign Het
Ptprc A T 1: 138,066,198 F1165I probably damaging Het
Rdh10 T C 1: 16,128,259 V207A possibly damaging Het
Rel A T 11: 23,753,218 N131K probably benign Het
Rgs14 A T 13: 55,383,525 D448V probably benign Het
Spag5 T G 11: 78,304,259 S131A probably benign Het
Styxl1 C T 5: 135,765,750 D88N probably damaging Het
Tlr3 C T 8: 45,398,339 R507H probably benign Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Txlnb T C 10: 17,806,858 probably null Het
Unc13a A G 8: 71,654,947 V567A probably damaging Het
Vmn1r8 T C 6: 57,036,668 S235P possibly damaging Het
Vmn2r51 T A 7: 10,105,482 N60Y probably damaging Het
Wbp1l T A 19: 46,652,483 L68Q probably damaging Het
Wdfy3 A T 5: 101,924,081 V981E probably benign Het
Zdhhc13 T C 7: 48,808,865 S316P probably damaging Het
Zfp516 C T 18: 82,987,361 R797C probably benign Het
Zp3r A G 1: 130,598,920 V182A probably benign Het
Other mutations in Fam131c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Fam131c APN 4 141379673 splice site probably null
IGL01622:Fam131c APN 4 141382450 missense possibly damaging 0.83
IGL01623:Fam131c APN 4 141382450 missense possibly damaging 0.83
IGL02726:Fam131c APN 4 141382802 missense probably benign 0.19
IGL03163:Fam131c APN 4 141382758 missense probably damaging 1.00
R1523:Fam131c UTSW 4 141382831 missense probably benign
R5330:Fam131c UTSW 4 141382830 missense probably benign
R5331:Fam131c UTSW 4 141382830 missense probably benign
R6464:Fam131c UTSW 4 141382342 missense probably damaging 0.97
R7179:Fam131c UTSW 4 141383017 splice site probably null
X0019:Fam131c UTSW 4 141379761 missense probably benign 0.03
Posted On2014-02-04