Incidental Mutation 'IGL03218:Def8'
ID413557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Def8
Ensembl Gene ENSMUSG00000001482
Gene Namedifferentially expressed in FDCP 8
SynonymsD8Ertd713e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #IGL03218
Quality Score
Status
Chromosome8
Chromosomal Location123423527-123463270 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 123456436 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 258 (D258G)
Ref Sequence ENSEMBL: ENSMUSP00000104460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001522] [ENSMUST00000065534] [ENSMUST00000093049] [ENSMUST00000108830] [ENSMUST00000108832] [ENSMUST00000124741] [ENSMUST00000127664] [ENSMUST00000128424] [ENSMUST00000132063] [ENSMUST00000212391] [ENSMUST00000212827] [ENSMUST00000212883]
Predicted Effect probably damaging
Transcript: ENSMUST00000001522
AA Change: D246G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482
AA Change: D246G

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 damaging
Transcript: ENSMUST00000065534
AA Change: D234G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482
AA Change: D234G

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 damaging
Transcript: ENSMUST00000093049
AA Change: D234G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482
AA Change: D234G

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 damaging
Transcript: ENSMUST00000108830
AA Change: D234G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482
AA Change: D234G

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 damaging
Transcript: ENSMUST00000108832
AA Change: D258G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482
AA Change: D258G

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,484,663 probably null Het
Acot9 T A X: 155,295,211 V251E possibly damaging Het
Agtpbp1 A G 13: 59,500,207 S600P possibly damaging Het
Amfr A T 8: 94,000,336 M157K probably damaging Het
Arvcf T C 16: 18,404,125 probably benign Het
Ascc3 T C 10: 50,823,853 V1924A possibly damaging Het
Atp10a T A 7: 58,788,448 probably null Het
Atp1a2 T A 1: 172,289,303 E249V probably null Het
C1qc A G 4: 136,890,287 L166P probably damaging Het
Col4a3 C A 1: 82,643,206 probably benign Het
Dll1 T C 17: 15,373,568 D179G probably benign Het
Dnah14 C A 1: 181,755,269 H3124Q probably benign Het
Fabp5 T A 3: 10,014,963 probably benign Het
Fam133b C T 5: 3,554,684 Q24* probably null Het
Fam13c A C 10: 70,448,769 D25A possibly damaging Het
Flna A G X: 74,234,602 probably null Het
Frem1 T A 4: 82,914,646 T1917S probably benign Het
Frmd4b T C 6: 97,308,114 T337A probably benign Het
Fxyd7 C T 7: 31,044,570 probably null Het
Galnt5 T G 2: 57,999,389 S334A possibly damaging Het
Gm10220 T C 5: 26,118,698 K117R probably damaging Het
Gpd2 T A 2: 57,307,054 L207H probably damaging Het
H2-M10.3 T A 17: 36,367,387 Y182F probably damaging Het
Itga8 T C 2: 12,111,025 I1018V possibly damaging Het
Letmd1 T C 15: 100,469,828 F89S probably damaging Het
Mcm3ap A G 10: 76,482,733 Y696C probably damaging Het
Mcpt9 A G 14: 56,027,451 Y198H probably damaging Het
Mmp1b A G 9: 7,387,907 V29A probably benign Het
Myom1 A G 17: 71,084,316 D940G possibly damaging Het
Myzap A G 9: 71,555,589 M225T probably benign Het
Naa25 A G 5: 121,426,070 Y516C probably damaging Het
Nsdhl T A X: 72,956,446 probably benign Het
Olfml1 A G 7: 107,571,269 E121G possibly damaging Het
Olfr1085 A G 2: 86,658,359 I33T probably benign Het
Olfr1245 A G 2: 89,575,591 V45A probably benign Het
Olfr736 A T 14: 50,393,658 M301L probably damaging Het
Phex C T X: 157,178,787 G636E probably damaging Het
Pkd2l2 A T 18: 34,430,320 I475F probably damaging Het
Polr2b T A 5: 77,315,917 S54T probably benign Het
Prkx A T X: 77,786,200 L85Q probably damaging Het
Smc1b A T 15: 85,089,713 I914N probably benign Het
Susd2 A G 10: 75,642,625 L39P probably benign Het
Teddm2 C T 1: 153,851,024 V35I probably benign Het
Tspo T A 15: 83,571,430 V6E possibly damaging Het
Vps41 G T 13: 18,829,270 V353F possibly damaging Het
Wfdc18 T A 11: 83,709,207 probably null Het
Wsb1 C T 11: 79,248,498 S124N probably damaging Het
Zfp445 T C 9: 122,857,529 E177G probably benign Het
Zfp759 G T 13: 67,139,416 V344L probably benign 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
IGL02982:Def8 APN 8 123456539 unclassified probably benign
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
Z1088:Def8 UTSW 8 123456498 missense probably damaging 0.96
Z1176:Def8 UTSW 8 123459966 missense possibly damaging 0.46
Posted On2016-08-02