Incidental Mutation 'IGL02803:Fam114a1'
ID 360332
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam114a1
Ensembl Gene ENSMUSG00000029185
Gene Name family with sequence similarity 114, member A1
Synonyms 1190001N04Rik, 9130005N14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02803
Quality Score
Status
Chromosome 5
Chromosomal Location 65127459-65199217 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 65163135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031080] [ENSMUST00000139366]
AlphaFold Q9D281
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo C T 12: 37,302,480 (GRCm39) L106F probably benign Het
Appl1 A G 14: 26,673,473 (GRCm39) I208T possibly damaging Het
Arap2 G T 5: 62,906,452 (GRCm39) A189D probably benign Het
Arhgef12 T C 9: 42,883,324 (GRCm39) K1402E possibly damaging Het
C7 A C 15: 5,079,042 (GRCm39) F89V probably damaging Het
Camsap2 G A 1: 136,208,861 (GRCm39) T877I probably damaging Het
Cpt2 T C 4: 107,764,583 (GRCm39) T394A probably benign Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Dnah10 C A 5: 124,875,078 (GRCm39) T2528N probably damaging Het
Entpd8 G T 2: 24,975,151 (GRCm39) W494L probably damaging Het
Fat4 T C 3: 38,943,444 (GRCm39) V779A probably damaging Het
Gckr T C 5: 31,455,548 (GRCm39) S34P probably damaging Het
Golga4 T C 9: 118,364,528 (GRCm39) V297A probably benign Het
Gpr65 T C 12: 98,241,469 (GRCm39) S41P probably damaging Het
Gps1 G T 11: 120,677,649 (GRCm39) A221S probably damaging Het
Heatr1 T A 13: 12,448,867 (GRCm39) S1861T probably damaging Het
Hmces A G 6: 87,902,711 (GRCm39) E184G probably damaging Het
Itfg1 T C 8: 86,452,140 (GRCm39) probably null Het
Mrtfb C T 16: 13,221,020 (GRCm39) T743I possibly damaging Het
Nfe2l3 A G 6: 51,434,291 (GRCm39) S284G possibly damaging Het
Nlrp2 C A 7: 5,331,317 (GRCm39) A360S probably damaging Het
Nop9 A G 14: 55,987,533 (GRCm39) H298R probably benign Het
Or5an1 A T 19: 12,261,347 (GRCm39) S312C possibly damaging Het
Or5h17 T A 16: 58,820,321 (GRCm39) V91E probably benign Het
Or6ae1 T C 7: 139,742,287 (GRCm39) D192G possibly damaging Het
Osgin1 A G 8: 120,170,006 (GRCm39) M158V probably benign Het
Patj C A 4: 98,314,301 (GRCm39) Q374K probably damaging Het
Pck1 G T 2: 172,997,797 (GRCm39) G289W probably damaging Het
Phkg1 T G 5: 129,894,895 (GRCm39) I219L possibly damaging Het
Ppp1r15b G A 1: 133,061,081 (GRCm39) A533T probably damaging Het
Ppwd1 T C 13: 104,350,192 (GRCm39) I398V probably benign Het
Prkdc A G 16: 15,651,530 (GRCm39) probably benign Het
Psg25 G A 7: 18,260,212 (GRCm39) L229F possibly damaging Het
Rps6ka1 T A 4: 133,608,265 (GRCm39) Q24L probably benign Het
Sgk3 T C 1: 9,949,273 (GRCm39) I147T possibly damaging Het
Slc25a24 T A 3: 109,062,387 (GRCm39) I159N probably damaging Het
Slc26a4 T C 12: 31,572,526 (GRCm39) probably null Het
Slc35f4 T C 14: 49,541,714 (GRCm39) I347V probably benign Het
Spag17 A T 3: 100,016,713 (GRCm39) M2163L probably benign Het
Stab2 C T 10: 86,786,133 (GRCm39) probably benign Het
Sult2a8 G A 7: 14,145,630 (GRCm39) probably benign Het
Syne2 T C 12: 76,078,320 (GRCm39) L4718P probably damaging Het
Timd4 G T 11: 46,706,521 (GRCm39) G108W probably damaging Het
Timm9 T C 12: 71,173,148 (GRCm39) probably benign Het
Vmn2r98 G A 17: 19,286,275 (GRCm39) V258I probably benign Het
Zcchc9 C T 13: 91,949,000 (GRCm39) V174I probably benign Het
Zdbf2 T C 1: 63,342,236 (GRCm39) V205A possibly damaging Het
Other mutations in Fam114a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Fam114a1 APN 5 65,137,347 (GRCm39) missense probably benign 0.31
IGL01013:Fam114a1 APN 5 65,188,738 (GRCm39) critical splice donor site probably null
IGL02032:Fam114a1 APN 5 65,172,714 (GRCm39) missense probably benign 0.11
IGL02117:Fam114a1 APN 5 65,187,465 (GRCm39) missense probably benign 0.08
IGL02388:Fam114a1 APN 5 65,166,323 (GRCm39) unclassified probably benign
IGL02563:Fam114a1 APN 5 65,163,491 (GRCm39) splice site probably null
R1183:Fam114a1 UTSW 5 65,191,731 (GRCm39) missense probably damaging 1.00
R2073:Fam114a1 UTSW 5 65,153,247 (GRCm39) critical splice donor site probably null
R2086:Fam114a1 UTSW 5 65,137,402 (GRCm39) missense probably benign 0.39
R3834:Fam114a1 UTSW 5 65,163,416 (GRCm39) missense possibly damaging 0.65
R4519:Fam114a1 UTSW 5 65,163,225 (GRCm39) missense probably benign
R4749:Fam114a1 UTSW 5 65,166,409 (GRCm39) missense probably damaging 1.00
R4937:Fam114a1 UTSW 5 65,137,070 (GRCm39) missense probably damaging 0.97
R5038:Fam114a1 UTSW 5 65,166,388 (GRCm39) missense probably damaging 1.00
R5096:Fam114a1 UTSW 5 65,137,234 (GRCm39) missense probably benign
R5368:Fam114a1 UTSW 5 65,163,452 (GRCm39) missense possibly damaging 0.52
R5460:Fam114a1 UTSW 5 65,185,776 (GRCm39) missense probably damaging 0.99
R5734:Fam114a1 UTSW 5 65,166,389 (GRCm39) missense probably damaging 1.00
R6242:Fam114a1 UTSW 5 65,188,695 (GRCm39) missense probably damaging 0.98
R6950:Fam114a1 UTSW 5 65,137,322 (GRCm39) missense possibly damaging 0.88
R7460:Fam114a1 UTSW 5 65,196,050 (GRCm39) missense possibly damaging 0.51
R7570:Fam114a1 UTSW 5 65,187,402 (GRCm39) splice site probably null
R8913:Fam114a1 UTSW 5 65,185,821 (GRCm39) missense possibly damaging 0.77
R9095:Fam114a1 UTSW 5 65,188,733 (GRCm39) missense probably benign 0.08
R9171:Fam114a1 UTSW 5 65,191,713 (GRCm39) critical splice acceptor site probably null
R9203:Fam114a1 UTSW 5 65,137,300 (GRCm39) missense probably damaging 1.00
R9318:Fam114a1 UTSW 5 65,153,227 (GRCm39) missense possibly damaging 0.77
R9640:Fam114a1 UTSW 5 65,166,394 (GRCm39) missense probably damaging 0.99
R9656:Fam114a1 UTSW 5 65,163,246 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18