Incidental Mutation 'IGL02982:Def8'
ID 406607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Def8
Ensembl Gene ENSMUSG00000001482
Gene Name differentially expressed in FDCP 8
Synonyms D8Ertd713e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock # IGL02982
Quality Score
Status
Chromosome 8
Chromosomal Location 123423527-123463270 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 123456539 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001522] [ENSMUST00000065534] [ENSMUST00000093049] [ENSMUST00000108830] [ENSMUST00000108832] [ENSMUST00000124741] [ENSMUST00000127664] [ENSMUST00000128424] [ENSMUST00000132063] [ENSMUST00000212391] [ENSMUST00000212827] [ENSMUST00000212883]
AlphaFold Q99J78
Predicted Effect probably benign
Transcript: ENSMUST00000001522
SMART Domains Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482

DomainStartEndE-ValueType
Blast:DUF4206 77 133 8e-28 BLAST
C1 148 198 4.12e-3 SMART
DUF4206 243 447 4.01e-121 SMART
C1 385 437 1.5e0 SMART
RING 399 440 4.86e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065534
SMART Domains Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482

DomainStartEndE-ValueType
Blast:DUF4206 65 121 7e-28 BLAST
C1 136 186 4.12e-3 SMART
DUF4206 231 435 4.01e-121 SMART
C1 373 425 1.5e0 SMART
RING 387 428 4.86e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000093049
SMART Domains Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482

DomainStartEndE-ValueType
Blast:DUF4206 65 121 9e-28 BLAST
C1 136 186 4.12e-3 SMART
DUF4206 231 429 6.85e-106 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108830
SMART Domains Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482

DomainStartEndE-ValueType
Blast:DUF4206 65 121 7e-28 BLAST
C1 136 186 4.12e-3 SMART
DUF4206 231 435 4.01e-121 SMART
C1 373 425 1.5e0 SMART
RING 387 428 4.86e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108832
SMART Domains Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482

DomainStartEndE-ValueType
Blast:DUF4206 89 145 9e-28 BLAST
C1 160 210 4.12e-3 SMART
DUF4206 255 459 4.01e-121 SMART
C1 397 449 1.5e0 SMART
RING 411 452 4.86e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124741
SMART Domains Protein: ENSMUSP00000122532
Gene: ENSMUSG00000001482

DomainStartEndE-ValueType
Blast:DUF4206 65 97 4e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128424
SMART Domains Protein: ENSMUSP00000115137
Gene: ENSMUSG00000001482

DomainStartEndE-ValueType
Blast:DUF4206 77 133 4e-30 BLAST
C1 148 198 4.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132063
Predicted Effect probably benign
Transcript: ENSMUST00000212391
Predicted Effect probably benign
Transcript: ENSMUST00000212827
Predicted Effect probably benign
Transcript: ENSMUST00000212883
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 24,804,431 A384D probably benign Het
Adamts19 T A 18: 59,024,518 C961S probably damaging Het
Agbl2 G A 2: 90,805,815 C565Y probably damaging Het
Aox3 G A 1: 58,127,687 E190K probably benign Het
Arf2 T G 11: 103,981,776 D74E probably damaging Het
Bptf T G 11: 107,076,674 D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Ces1a A G 8: 93,044,975 F65L probably damaging Het
Fat4 T C 3: 38,890,843 L1295P probably damaging Het
Filip1l A G 16: 57,572,232 H1061R probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gldc A G 19: 30,145,145 probably null Het
Gm597 T C 1: 28,778,054 H299R probably damaging Het
Golgb1 A C 16: 36,925,810 D2917A probably damaging Het
Gpc5 G A 14: 115,369,988 C334Y probably damaging Het
Gpsm1 T A 2: 26,324,859 L252Q probably damaging Het
Iars C T 13: 49,709,709 R546C probably benign Het
Kbtbd8 G T 6: 95,126,566 V399L probably benign Het
Kcnd2 A T 6: 21,217,149 D284V probably damaging Het
Kcnj6 T C 16: 94,832,517 K227R possibly damaging Het
Lhx9 A T 1: 138,838,611 H155Q probably damaging Het
Mcm9 A G 10: 53,625,826 V221A probably damaging Het
Myo9a A T 9: 59,908,208 K2237* probably null Het
Ntf3 A T 6: 126,102,377 D55E probably damaging Het
Olfr1229 G T 2: 89,283,109 T29K probably damaging Het
Olfr61 A T 7: 140,637,952 I84F probably benign Het
Plek T A 11: 16,981,826 I342F probably damaging Het
Polrmt A G 10: 79,738,348 Y853H probably damaging Het
Psg29 A G 7: 17,211,707 T401A probably damaging Het
Ptprb A G 10: 116,322,628 T822A probably benign Het
Ptprq A C 10: 107,586,684 F1616V probably damaging Het
Rpe65 T A 3: 159,600,361 V19E probably damaging Het
Scamp2 G A 9: 57,581,549 A178T probably benign Het
Spta1 A G 1: 174,187,288 I445V probably benign Het
Tas2r135 A G 6: 42,406,253 E242G probably benign Het
Ttc22 T C 4: 106,638,586 V379A probably damaging Het
Unc5d C T 8: 28,652,853 G857E probably damaging Het
Usp28 A G 9: 49,018,439 I43V probably benign Het
Vmn2r68 A T 7: 85,234,441 M152K probably benign Het
Wrn C T 8: 33,343,066 G133R probably damaging Het
Zfyve26 G A 12: 79,263,870 T187M probably damaging Het
Zic2 A G 14: 122,478,567 E367G probably damaging Het
Other mutations in Def8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Def8 APN 8 123459650 missense possibly damaging 0.95
IGL01896:Def8 APN 8 123459895 missense probably benign 0.29
IGL02424:Def8 APN 8 123459648 missense possibly damaging 0.65
IGL03218:Def8 APN 8 123456436 missense probably damaging 1.00
defensive UTSW 8 123454322 missense probably damaging 1.00
PIT4495001:Def8 UTSW 8 123459553 missense probably benign 0.00
R0003:Def8 UTSW 8 123456495 missense probably damaging 0.98
R0117:Def8 UTSW 8 123456495 missense probably damaging 0.98
R0119:Def8 UTSW 8 123456495 missense probably damaging 0.98
R0135:Def8 UTSW 8 123456495 missense probably damaging 0.98
R0138:Def8 UTSW 8 123456495 missense probably damaging 0.98
R0141:Def8 UTSW 8 123456495 missense probably damaging 0.98
R0408:Def8 UTSW 8 123459917 missense probably damaging 1.00
R0636:Def8 UTSW 8 123454357 nonsense probably null
R3890:Def8 UTSW 8 123458344 unclassified probably benign
R3891:Def8 UTSW 8 123458344 unclassified probably benign
R3892:Def8 UTSW 8 123458344 unclassified probably benign
R4904:Def8 UTSW 8 123461480 missense probably damaging 0.96
R5930:Def8 UTSW 8 123460070 unclassified probably benign
R6088:Def8 UTSW 8 123460048 nonsense probably null
R6577:Def8 UTSW 8 123456710 missense probably benign 0.01
R7446:Def8 UTSW 8 123454322 missense probably damaging 1.00
R7498:Def8 UTSW 8 123447844 missense probably damaging 1.00
R7770:Def8 UTSW 8 123460059 missense unknown
R7827:Def8 UTSW 8 123447321 missense probably benign
R8186:Def8 UTSW 8 123461476 nonsense probably null
R8256:Def8 UTSW 8 123459629 missense probably damaging 1.00
R8399:Def8 UTSW 8 123455499 nonsense probably null
R9026:Def8 UTSW 8 123459652 missense probably damaging 1.00
R9230:Def8 UTSW 8 123459578 missense probably benign 0.26
R9359:Def8 UTSW 8 123458366 missense probably benign 0.43
Z1088:Def8 UTSW 8 123456498 missense probably damaging 0.96
Z1176:Def8 UTSW 8 123459966 missense possibly damaging 0.46
Posted On 2016-08-02