Incidental Mutation 'IGL02563:Fam114a1'
ID 298765
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 # IGL02563
Quality Score
Status
Chromosome 5
Chromosomal Location 65127459-65199217 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 65163491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031080] [ENSMUST00000139366]
AlphaFold Q9D281
Predicted Effect probably null
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,270,410 (GRCm39) V97E probably damaging Het
Abhd16a C T 17: 35,320,221 (GRCm39) T362M probably damaging Het
Adam23 T G 1: 63,607,136 (GRCm39) probably benign Het
Apeh C A 9: 107,970,908 (GRCm39) R87L possibly damaging Het
Arid3a T A 10: 79,786,717 (GRCm39) M490K probably damaging Het
Atp6v1b1 T A 6: 83,732,433 (GRCm39) V251D probably benign Het
Cog8 C T 8: 107,783,055 (GRCm39) R78Q possibly damaging Het
Cyld T C 8: 89,462,522 (GRCm39) I701T probably damaging Het
Dmgdh A G 13: 93,811,047 (GRCm39) probably benign Het
Dnm1 T C 2: 32,205,931 (GRCm39) probably null Het
Dop1b T A 16: 93,574,293 (GRCm39) V2D probably damaging Het
Dusp22 A T 13: 30,889,628 (GRCm39) S70C possibly damaging Het
Dync2h1 T C 9: 7,035,700 (GRCm39) Q3415R possibly damaging Het
Dysf T C 6: 84,163,498 (GRCm39) probably benign Het
Fam20a T A 11: 109,568,620 (GRCm39) Q302L possibly damaging Het
Fancm T A 12: 65,139,236 (GRCm39) L374H probably damaging Het
Fcgbpl1 G A 7: 27,857,317 (GRCm39) E2222K probably benign Het
Fgf17 G A 14: 70,874,178 (GRCm39) Q204* probably null Het
Gap43 T C 16: 42,112,495 (GRCm39) T89A probably benign Het
Gm5069 A G 1: 180,155,464 (GRCm39) probably benign Het
Gm9913 C T 2: 125,348,254 (GRCm39) probably benign Het
Gpr174 T C X: 106,336,854 (GRCm39) L222P probably benign Het
Grid2 A T 6: 64,322,857 (GRCm39) Q619L possibly damaging Het
Hoxc13 A G 15: 102,830,233 (GRCm39) D204G possibly damaging Het
Itgav T C 2: 83,601,580 (GRCm39) V317A probably benign Het
Keg1 A T 19: 12,696,521 (GRCm39) N288I probably damaging Het
Ksr1 C T 11: 78,935,684 (GRCm39) V234I possibly damaging Het
Lrp1 T A 10: 127,387,555 (GRCm39) D3365V probably damaging Het
Luc7l3 A T 11: 94,190,894 (GRCm39) probably null Het
Mta2 T C 19: 8,925,415 (GRCm39) I348T probably benign Het
Nphp4 A G 4: 152,640,677 (GRCm39) I1015V probably benign Het
Nup214 C T 2: 31,867,872 (GRCm39) S113F probably damaging Het
Or4f7 T C 2: 111,644,162 (GRCm39) K303R probably benign Het
Pabpn1l T A 8: 123,347,122 (GRCm39) T228S probably damaging Het
Paxx T C 2: 25,349,674 (GRCm39) *206W probably null Het
Pcdhb10 A G 18: 37,546,126 (GRCm39) T401A probably benign Het
Ppp1r3a A C 6: 14,719,761 (GRCm39) D384E probably benign Het
Rif1 T C 2: 51,967,077 (GRCm39) V122A probably damaging Het
Scn4b T C 9: 45,057,980 (GRCm39) L24P probably damaging Het
Sec22c T C 9: 121,513,716 (GRCm39) probably benign Het
Sh3rf2 A G 18: 42,289,207 (GRCm39) D676G probably damaging Het
Slc20a1 A G 2: 129,049,604 (GRCm39) T289A probably benign Het
Tekt2 T C 4: 126,218,418 (GRCm39) D84G possibly damaging Het
Tgfbr2 T A 9: 115,959,066 (GRCm39) N116I probably benign Het
Tmem196 A G 12: 119,910,209 (GRCm39) M1V probably null Het
Tnn A G 1: 159,942,123 (GRCm39) V1125A probably damaging Het
Vmn2r51 A T 7: 9,834,243 (GRCm39) M265K probably benign Het
Zfp319 T C 8: 96,050,362 (GRCm39) probably benign Het
Zfp65 A T 13: 67,856,184 (GRCm39) V365E possibly damaging Het
Zp3 T A 5: 136,016,464 (GRCm39) probably null 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
IGL02803:Fam114a1 APN 5 65,163,135 (GRCm39) splice site probably benign
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 2015-04-16