Incidental Mutation 'IGL01944:Fam71e2'
ID181205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam71e2
Ensembl Gene ENSMUSG00000092518
Gene Namefamily with sequence similarity 71, member E2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL01944
Quality Score
Status
Chromosome7
Chromosomal Location4753226-4771302 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4770695 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 67 (N67S)
Ref Sequence ENSEMBL: ENSMUSP00000137684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094892] [ENSMUST00000163481] [ENSMUST00000163574] [ENSMUST00000174409]
Predicted Effect probably benign
Transcript: ENSMUST00000094892
SMART Domains Protein: ENSMUSP00000092492
Gene: ENSMUSG00000004371

DomainStartEndE-ValueType
Pfam:IL11 1 199 1.3e-119 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108580
AA Change: N67S

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134691
Gene: ENSMUSG00000092518
AA Change: N67S

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
Pfam:DUF3699 99 172 6.5e-23 PFAM
low complexity region 282 296 N/A INTRINSIC
low complexity region 684 697 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163481
SMART Domains Protein: ENSMUSP00000131168
Gene: ENSMUSG00000004371

DomainStartEndE-ValueType
Pfam:IL11 1 140 2.1e-90 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163574
AA Change: N67S

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518
AA Change: N67S

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174409
AA Change: N67S

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: N67S

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Pfam:DUF3699 93 168 5.8e-24 PFAM
low complexity region 277 291 N/A INTRINSIC
low complexity region 679 692 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 T A 5: 135,011,376 V202D probably damaging Het
Afdn A G 17: 13,810,481 N218S probably damaging Het
AI314180 G T 4: 58,861,544 T345K probably benign Het
Arhgef1 G A 7: 24,925,783 probably null Het
Atp1a2 G T 1: 172,276,187 T959K probably damaging Het
Atp6v0a2 A G 5: 124,636,105 E96G probably benign Het
B9d1 A T 11: 61,512,379 M52L probably benign Het
Col6a6 T A 9: 105,783,909 I334F probably damaging Het
Drd3 T C 16: 43,818,308 F259L probably benign Het
Drosha T G 15: 12,889,719 L891R probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Greb1l T C 18: 10,557,280 V1760A possibly damaging Het
Il1f8 T A 2: 24,155,279 W48R probably damaging Het
Ipo9 C A 1: 135,405,886 V353F probably damaging Het
Kmt2a A T 9: 44,849,767 F126I probably damaging Het
Mmrn1 T C 6: 60,971,183 probably null Het
Nup214 T A 2: 32,034,959 C328* probably null Het
Olfr1013 A G 2: 85,770,040 I80V probably damaging Het
Pcdh17 G T 14: 84,447,520 V476L probably benign Het
Pcdh17 T A 14: 84,447,521 V476E probably damaging Het
Prpf38b A T 3: 108,904,675 S291R probably benign Het
Rap1gap T C 4: 137,725,620 S601P probably damaging Het
Rnf213 T C 11: 119,416,457 Y648H probably benign Het
Slfn3 A G 11: 83,213,148 T282A possibly damaging Het
Ttll3 C T 6: 113,414,115 T887I probably benign Het
Vmn1r197 A G 13: 22,328,338 N143S possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo4 T C 14: 57,604,398 I487V probably benign Het
Other mutations in Fam71e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Fam71e2 APN 7 4757527 missense probably damaging 0.99
IGL01622:Fam71e2 APN 7 4758723 missense probably benign 0.16
IGL01623:Fam71e2 APN 7 4758723 missense probably benign 0.16
IGL03013:Fam71e2 APN 7 4758633 missense probably benign 0.14
IGL03029:Fam71e2 APN 7 4757840 missense possibly damaging 0.78
R0153:Fam71e2 UTSW 7 4770287 missense probably damaging 0.99
R0523:Fam71e2 UTSW 7 4759393 missense possibly damaging 0.74
R0981:Fam71e2 UTSW 7 4757589 unclassified probably null
R1428:Fam71e2 UTSW 7 4757688 missense possibly damaging 0.68
R1736:Fam71e2 UTSW 7 4758154 missense probably damaging 1.00
R1929:Fam71e2 UTSW 7 4758187 missense probably benign 0.00
R1993:Fam71e2 UTSW 7 4758018 missense probably damaging 1.00
R2016:Fam71e2 UTSW 7 4759398 missense probably damaging 1.00
R2256:Fam71e2 UTSW 7 4771021 missense probably benign 0.01
R2270:Fam71e2 UTSW 7 4758187 missense probably benign 0.00
R2271:Fam71e2 UTSW 7 4758187 missense probably benign 0.00
R2272:Fam71e2 UTSW 7 4758187 missense probably benign 0.00
R4288:Fam71e2 UTSW 7 4770723 missense possibly damaging 0.91
R4653:Fam71e2 UTSW 7 4758055 missense possibly damaging 0.95
R4812:Fam71e2 UTSW 7 4759072 missense probably damaging 1.00
R4860:Fam71e2 UTSW 7 4757469 critical splice donor site probably null
R4860:Fam71e2 UTSW 7 4757469 critical splice donor site probably null
R5037:Fam71e2 UTSW 7 4758576 missense possibly damaging 0.64
R5044:Fam71e2 UTSW 7 4758661 missense probably benign 0.00
R5491:Fam71e2 UTSW 7 4757926 missense probably benign 0.05
R5559:Fam71e2 UTSW 7 4758450 missense probably damaging 1.00
R5919:Fam71e2 UTSW 7 4770386 missense possibly damaging 0.92
R6025:Fam71e2 UTSW 7 4758144 missense probably benign 0.01
R6038:Fam71e2 UTSW 7 4753595 unclassified probably null
R6038:Fam71e2 UTSW 7 4753595 unclassified probably null
R6164:Fam71e2 UTSW 7 4770678 missense probably damaging 0.99
R6371:Fam71e2 UTSW 7 4759359 missense probably benign 0.06
R6470:Fam71e2 UTSW 7 4757851 missense probably benign 0.16
R6546:Fam71e2 UTSW 7 4758465 missense probably benign 0.06
R6603:Fam71e2 UTSW 7 4758432 missense possibly damaging 0.95
R7037:Fam71e2 UTSW 7 4758585 utr 3 prime probably benign
R7381:Fam71e2 UTSW 7 4757682 missense
Posted On2014-05-07