Incidental Mutation 'IGL03029:Fam71e2'
ID408318
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: 0.084) question?
Stock #IGL03029
Quality Score
Status
Chromosome7
Chromosomal Location4753226-4771302 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 4757840 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 624 (N624K)
Ref Sequence ENSEMBL: ENSMUSP00000133885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063324] [ENSMUST00000163574] [ENSMUST00000174409] [ENSMUST00000182048] [ENSMUST00000182111] [ENSMUST00000182173] [ENSMUST00000182738] [ENSMUST00000183334] [ENSMUST00000183971] [ENSMUST00000184143]
Predicted Effect probably benign
Transcript: ENSMUST00000063324
SMART Domains Protein: ENSMUSP00000064988
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 85 2.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163574
SMART Domains Protein: ENSMUSP00000137684
Gene: ENSMUSG00000092518

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174409
AA Change: N624K

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133885
Gene: ENSMUSG00000092518
AA Change: N624K

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
Predicted Effect probably benign
Transcript: ENSMUST00000182048
SMART Domains Protein: ENSMUSP00000138765
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 85 2.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182111
SMART Domains Protein: ENSMUSP00000138709
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 85 2.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182173
SMART Domains Protein: ENSMUSP00000138288
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 74 5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182738
SMART Domains Protein: ENSMUSP00000138744
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 74 5.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183334
Predicted Effect probably benign
Transcript: ENSMUST00000183971
SMART Domains Protein: ENSMUSP00000138911
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 75 1.7e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184143
SMART Domains Protein: ENSMUSP00000139239
Gene: ENSMUSG00000051811

DomainStartEndE-ValueType
Pfam:COX6B 21 60 2.1e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 T A 9: 106,435,115 D213V probably damaging Het
Akap6 T C 12: 52,886,412 L229P probably damaging Het
Ankrd10 A T 8: 11,619,304 probably null Het
Arfgap3 C T 15: 83,322,650 E246K probably damaging Het
Cadps G T 14: 12,376,675 T1274K probably damaging Het
Cd46 T C 1: 195,086,143 T89A probably benign Het
Cylc1 A C X: 111,113,338 probably benign Het
Dach2 T A X: 113,815,136 L492* probably null Het
Dlc1 T C 8: 36,571,262 probably null Het
Fanci T C 7: 79,443,999 V1033A probably benign Het
Fat4 T C 3: 38,982,591 I3464T possibly damaging Het
Fus A G 7: 127,985,540 probably benign Het
Hectd3 G T 4: 116,996,965 E271* probably null Het
Herc2 T C 7: 56,168,967 L2802P probably damaging Het
Hk2 G A 6: 82,738,333 R407C probably damaging Het
Josd2 T C 7: 44,471,177 S71P probably damaging Het
Kdelc2 T C 9: 53,384,288 probably null Het
Kif20b A G 19: 34,950,913 T1152A probably benign Het
Myo15b G A 11: 115,871,643 V1229I probably benign Het
Nup188 T C 2: 30,322,580 probably benign Het
Olfr1357 T A 10: 78,611,958 I228F probably benign Het
Pank1 T A 19: 34,821,135 I476F probably damaging Het
Pdcd6 A G 13: 74,309,780 Y91H probably damaging Het
Pik3r3 T G 4: 116,299,801 V393G probably damaging Het
Prx C T 7: 27,508,061 R48* probably null Het
Rbm5 A G 9: 107,754,453 S222P possibly damaging Het
Rev3l T A 10: 39,828,486 I302N probably benign Het
Rnf139 T C 15: 58,899,118 F331L probably damaging Het
Shisa4 G T 1: 135,373,176 Q119K probably damaging Het
Shisa6 T A 11: 66,218,013 E346V probably damaging Het
Slc6a3 A T 13: 73,538,697 E61V probably damaging Het
Slc9a7 T A X: 20,291,369 M106L probably benign Het
Srek1 A G 13: 103,763,960 probably benign Het
Strc G A 2: 121,364,044 L1788F possibly damaging Het
Styk1 T C 6: 131,300,560 S284G probably benign Het
Top2a T A 11: 99,018,799 T158S probably benign Het
Vangl1 C T 3: 102,184,084 V229M probably damaging Het
Vsig1 A G X: 140,926,512 T137A possibly damaging 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
IGL01944:Fam71e2 APN 7 4770695 missense possibly damaging 0.94
IGL03013:Fam71e2 APN 7 4758633 missense probably benign 0.14
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 On2016-08-02