Incidental Mutation 'IGL02388:Fam114a1'
ID291654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam114a1
Ensembl Gene ENSMUSG00000029185
Gene Namefamily with sequence similarity 114, member A1
Synonyms9130005N14Rik, 1190001N04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02388
Quality Score
Status
Chromosome5
Chromosomal Location64970071-65041886 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 65008980 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031080] [ENSMUST00000139366]
Predicted Effect probably benign
Transcript: ENSMUST00000031080
SMART Domains Protein: ENSMUSP00000031080
Gene: ENSMUSG00000029185

DomainStartEndE-ValueType
Pfam:DUF719 125 300 5e-65 PFAM
low complexity region 355 365 N/A INTRINSIC
low complexity region 413 432 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139366
SMART Domains Protein: ENSMUSP00000119284
Gene: ENSMUSG00000029185

DomainStartEndE-ValueType
Pfam:DUF719 121 177 7e-16 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930597O21Rik A T 6: 66,896,113 probably benign Het
9230019H11Rik A T 10: 3,125,050 noncoding transcript Het
Abca8a A G 11: 110,078,815 probably benign Het
Asphd1 A T 7: 126,946,712 probably benign Het
Ccdc77 G A 6: 120,331,897 A301V probably benign Het
Cep350 G T 1: 155,953,753 T135K probably benign Het
Chrna7 A T 7: 63,107,691 D153E probably damaging Het
Clec4b2 G T 6: 123,202,228 probably null Het
Cyp2c67 T C 19: 39,643,355 N133D probably benign Het
Dglucy T C 12: 100,856,998 I484T probably damaging Het
Dtna G T 18: 23,597,514 M319I probably benign Het
E2f5 T A 3: 14,588,280 M152K probably benign Het
Emsy A T 7: 98,641,666 M58K probably damaging Het
Epha1 A G 6: 42,365,016 Y367H probably damaging Het
Etv1 A G 12: 38,781,799 S32G possibly damaging Het
Fbxo30 T A 10: 11,290,378 N281K probably benign Het
Galnt12 G T 4: 47,117,941 R412L probably damaging Het
Gm5786 T A 12: 59,081,596 noncoding transcript Het
Gm9845 T C 3: 39,358,467 noncoding transcript Het
Hecw2 A G 1: 53,925,699 V656A probably benign Het
Hpse2 A T 19: 43,294,253 V187D probably damaging Het
Itsn2 T A 12: 4,629,557 M122K possibly damaging Het
Kcnj11 A G 7: 46,099,789 S37P probably benign Het
Kif13b T C 14: 64,800,358 I1491T probably damaging Het
Krt36 T A 11: 100,105,164 K145* probably null Het
Loxhd1 A G 18: 77,369,137 I499V probably benign Het
Map3k4 G T 17: 12,271,610 N311K probably damaging Het
Mical2 C A 7: 112,335,413 H880N probably benign Het
Myo1d A T 11: 80,637,997 C666* probably null Het
Nlrx1 C T 9: 44,264,005 R158H probably benign Het
Olfr1115 T A 2: 87,251,951 Y5N probably benign Het
Olfr1251 T C 2: 89,666,972 S305G probably benign Het
Olfr1494 C A 19: 13,749,630 H175N possibly damaging Het
Olfr380 A T 11: 73,453,280 L311I probably benign Het
Olfr45 A G 7: 140,691,111 T69A probably benign Het
Pdgfrl A G 8: 40,977,057 R154G probably benign Het
Pitpnb T C 5: 111,330,833 F7S possibly damaging Het
Ppm1n G A 7: 19,279,172 R285C probably damaging Het
Prdm11 A T 2: 92,975,612 I331N possibly damaging Het
Ptprb C T 10: 116,367,521 P2066L probably damaging Het
Ric8b T C 10: 84,992,271 probably benign Het
Setx A G 2: 29,173,653 I2320M probably damaging Het
Skil C A 3: 31,111,638 S368* probably null Het
Slc1a5 G T 7: 16,785,719 probably null Het
Trpm7 A C 2: 126,819,891 V1079G possibly damaging Het
Tulp1 A G 17: 28,358,659 F2L probably damaging Het
Zbtb17 A G 4: 141,461,913 Y48C probably damaging Het
Zfp605 T A 5: 110,127,640 I208N possibly damaging Het
Other mutations in Fam114a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Fam114a1 APN 5 64980004 missense probably benign 0.31
IGL01013:Fam114a1 APN 5 65031395 critical splice donor site probably null
IGL02032:Fam114a1 APN 5 65015371 missense probably benign 0.11
IGL02117:Fam114a1 APN 5 65030122 missense probably benign 0.08
IGL02563:Fam114a1 APN 5 65006148 splice site probably null
IGL02803:Fam114a1 APN 5 65005792 splice site probably benign
R1183:Fam114a1 UTSW 5 65034388 missense probably damaging 1.00
R2073:Fam114a1 UTSW 5 64995904 critical splice donor site probably null
R2086:Fam114a1 UTSW 5 64980059 missense probably benign 0.39
R3834:Fam114a1 UTSW 5 65006073 missense possibly damaging 0.65
R4519:Fam114a1 UTSW 5 65005882 missense probably benign
R4749:Fam114a1 UTSW 5 65009066 missense probably damaging 1.00
R4937:Fam114a1 UTSW 5 64979727 missense probably damaging 0.97
R5038:Fam114a1 UTSW 5 65009045 missense probably damaging 1.00
R5096:Fam114a1 UTSW 5 64979891 missense probably benign
R5368:Fam114a1 UTSW 5 65006109 missense possibly damaging 0.52
R5460:Fam114a1 UTSW 5 65028433 missense probably damaging 0.99
R5734:Fam114a1 UTSW 5 65009046 missense probably damaging 1.00
R6242:Fam114a1 UTSW 5 65031352 missense probably damaging 0.98
R6950:Fam114a1 UTSW 5 64979979 missense possibly damaging 0.88
R7460:Fam114a1 UTSW 5 65038707 missense possibly damaging 0.51
R7570:Fam114a1 UTSW 5 65030059 splice site probably null
Posted On2015-04-16