Incidental Mutation 'IGL02123:Fam71d'
ID280740
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam71d
Ensembl Gene ENSMUSG00000056987
Gene Namefamily with sequence similarity 71, member D
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL02123
Quality Score
Status
Chromosome12
Chromosomal Location78691535-78734516 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 78734207 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077968] [ENSMUST00000219507] [ENSMUST00000219551] [ENSMUST00000220101]
Predicted Effect probably null
Transcript: ENSMUST00000077968
SMART Domains Protein: ENSMUSP00000077119
Gene: ENSMUSG00000056987

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
Pfam:DUF3699 111 184 1.6e-25 PFAM
low complexity region 237 250 N/A INTRINSIC
low complexity region 265 284 N/A INTRINSIC
low complexity region 391 402 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219314
Predicted Effect probably benign
Transcript: ENSMUST00000219507
Predicted Effect probably null
Transcript: ENSMUST00000219551
Predicted Effect probably benign
Transcript: ENSMUST00000220101
Predicted Effect probably benign
Transcript: ENSMUST00000220212
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T C 7: 28,629,489 T31A probably benign Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ampd3 T C 7: 110,802,559 V429A possibly damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cldn11 C T 3: 31,150,187 T13M probably benign Het
Cngb3 C A 4: 19,367,801 Q237K probably damaging Het
Col12a1 A G 9: 79,662,458 probably null Het
Copa T A 1: 172,112,128 L621H probably damaging Het
Dbn1 T C 13: 55,476,740 D332G possibly damaging Het
Drc1 T C 5: 30,347,104 S197P probably benign Het
E2f2 A G 4: 136,172,848 N23S probably benign Het
Epb41l2 T A 10: 25,460,844 L246H probably damaging Het
Fam13b G A 18: 34,445,618 probably benign Het
Fam184b A G 5: 45,639,151 M30T possibly damaging Het
Fn3krp G A 11: 121,429,444 R205H probably benign Het
Fndc11 A G 2: 181,221,650 I83V probably benign Het
Gm3460 C T 14: 6,619,542 R150H probably benign Het
Hs6st1 T A 1: 36,103,871 F296I possibly damaging Het
Igsf10 T A 3: 59,318,660 I2531F probably damaging Het
Klhl40 T C 9: 121,779,923 F385L probably benign Het
Krt83 A T 15: 101,487,585 M302K possibly damaging Het
Lrrc43 A T 5: 123,494,279 I162F probably damaging Het
Map3k21 A G 8: 125,926,110 E325G probably damaging Het
Mpo A T 11: 87,794,795 N33I probably benign Het
Mpp4 A G 1: 59,161,466 probably null Het
Muc5b C T 7: 141,863,757 T3480I possibly damaging Het
Myo6 T C 9: 80,264,272 probably benign Het
Nostrin C T 2: 69,156,109 probably benign Het
Nphp1 T C 2: 127,754,049 M498V probably benign Het
Nr4a2 A T 2: 57,111,655 L199Q possibly damaging Het
Pcdhb6 A T 18: 37,335,820 N598I probably damaging Het
Pex19 T A 1: 172,134,286 M207K probably damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Plekha2 T C 8: 25,042,729 K409E probably damaging Het
Plxna2 T C 1: 194,794,383 L1169P probably damaging Het
Pmpcb A G 5: 21,743,375 probably benign Het
Ptrh1 T C 2: 32,776,814 probably benign Het
Rc3h2 T C 2: 37,398,253 E439G probably damaging Het
Ric1 C T 19: 29,594,800 A665V probably benign Het
Stx18 T A 5: 38,128,103 V219D probably damaging Het
Taf7 A T 18: 37,642,480 probably benign Het
Tbc1d8 A G 1: 39,376,907 I895T possibly damaging Het
Tbc1d8 A G 1: 39,380,236 S766P probably damaging Het
Tekt3 C A 11: 63,083,940 H362N probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tmem94 T C 11: 115,787,538 S196P possibly damaging Het
Vmn2r14 T C 5: 109,220,067 Y353C probably damaging Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vmn2r90 T G 17: 17,733,482 M636R probably benign Het
Vmn2r98 T A 17: 19,080,679 C648S probably damaging Het
Zfpm2 G A 15: 41,102,195 C560Y probably damaging Het
Other mutations in Fam71d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02738:Fam71d APN 12 78734215 splice site probably benign
R0760:Fam71d UTSW 12 78715153 missense probably damaging 1.00
R1832:Fam71d UTSW 12 78715506 unclassified probably benign
R1833:Fam71d UTSW 12 78715506 unclassified probably benign
R4335:Fam71d UTSW 12 78712232 missense possibly damaging 0.77
R4437:Fam71d UTSW 12 78715050 missense probably damaging 1.00
R4850:Fam71d UTSW 12 78715153 missense probably damaging 1.00
R5234:Fam71d UTSW 12 78715271 nonsense probably null
R5445:Fam71d UTSW 12 78715116 missense probably damaging 1.00
R5587:Fam71d UTSW 12 78715075 missense probably damaging 0.99
R5965:Fam71d UTSW 12 78710306 missense unknown
R5993:Fam71d UTSW 12 78715436 missense probably damaging 0.98
R6644:Fam71d UTSW 12 78715286 missense probably damaging 1.00
R6660:Fam71d UTSW 12 78715357 missense possibly damaging 0.88
R7052:Fam71d UTSW 12 78719402 missense probably benign 0.00
R7098:Fam71d UTSW 12 78719634 critical splice donor site probably null
R7189:Fam71d UTSW 12 78712208 missense probably benign 0.22
R7305:Fam71d UTSW 12 78715035 missense possibly damaging 0.85
U24488:Fam71d UTSW 12 78715037 missense probably damaging 1.00
Posted On2015-04-16