Incidental Mutation 'IGL01013:Fam114a1'
ID53572
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 #IGL01013
Quality Score
Status
Chromosome5
Chromosomal Location64970071-65041886 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 65031395 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031080] [ENSMUST00000031080]
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 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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 76,886,206 E499D possibly damaging Het
Abca1 A T 4: 53,038,185 L2059* probably null Het
Ankar T A 1: 72,650,989 I1228F possibly damaging Het
Appl1 A T 14: 26,949,476 Y340N possibly damaging Het
Atp8b4 C A 2: 126,323,087 R1103L probably benign Het
B4galt6 A G 18: 20,689,013 V308A probably damaging Het
Ccdc162 G A 10: 41,581,339 P1534L probably benign Het
Ccdc78 A G 17: 25,789,054 E313G possibly damaging Het
Cep57l1 G A 10: 41,740,869 R141* probably null Het
Cpsf1 G A 15: 76,599,297 Q883* probably null Het
Crot A G 5: 8,993,575 Y16H probably benign Het
Cyld T G 8: 88,742,362 L587R probably damaging Het
Fam89b G T 19: 5,729,369 D53E probably benign Het
Fig4 T C 10: 41,267,786 M226V probably benign Het
Gm10722 A T 9: 3,002,230 Y184F probably damaging Het
Hp C A 8: 109,579,021 probably benign Het
Igsf9b G T 9: 27,334,304 R1189L probably damaging Het
Ilf3 A G 9: 21,399,691 N620D possibly damaging Het
Jakmip3 A C 7: 139,017,573 E228A possibly damaging Het
Kpna3 A T 14: 61,370,517 I413K probably damaging Het
Letm1 A T 5: 33,762,590 C202S possibly damaging Het
Lmod2 C A 6: 24,604,135 Q370K probably damaging Het
Map4k5 T C 12: 69,827,526 probably benign Het
Mcidas T A 13: 112,997,585 probably benign Het
Mme A G 3: 63,327,860 probably null Het
Mrc1 T C 2: 14,328,425 W1306R probably damaging Het
Mthfd1l C A 10: 4,030,716 Q473K probably damaging Het
Muc6 A T 7: 141,648,066 C719* probably null Het
Nsun7 T C 5: 66,283,601 I355T possibly damaging Het
Padi6 A G 4: 140,729,003 L560P probably damaging Het
Parl C A 16: 20,282,790 A285S possibly damaging Het
Pclo A T 5: 14,793,834 M4795L unknown Het
Polr2f A G 15: 79,146,129 Y56C probably damaging Het
Rasgrp2 A T 19: 6,404,383 H152L probably damaging Het
Rpl10l T C 12: 66,284,227 D44G probably benign Het
Slc25a16 A G 10: 62,944,433 probably null Het
Snrnp200 G A 2: 127,232,472 E1411K probably damaging Het
Tanc2 G A 11: 105,625,065 R3Q probably damaging Het
Tbc1d32 G T 10: 56,201,959 probably null Het
Tcf7l2 T C 19: 55,919,627 probably benign Het
Tnrc6c G T 11: 117,722,029 V498L probably benign Het
Tymp G A 15: 89,376,310 H102Y probably damaging Het
Wdr76 T C 2: 121,535,497 S492P probably benign Het
Zc3h12d T C 10: 7,839,956 I41T probably damaging Het
Other mutations in Fam114a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Fam114a1 APN 5 64980004 missense probably benign 0.31
IGL02032:Fam114a1 APN 5 65015371 missense probably benign 0.11
IGL02117:Fam114a1 APN 5 65030122 missense probably benign 0.08
IGL02388:Fam114a1 APN 5 65008980 unclassified probably benign
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 On2013-06-28