Incidental Mutation 'R0138:Def8'
ID 60932
Institutional Source Beutler Lab
Gene Symbol Def8
Ensembl Gene ENSMUSG00000001482
Gene Name differentially expressed in FDCP 8
Synonyms D8Ertd713e
MMRRC Submission 038423-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R0138 (G1)
Quality Score 208
Status Validated
Chromosome 8
Chromosomal Location 124169725-124190009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 124183234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 278 (A278T)
Ref Sequence ENSEMBL: ENSMUSP00000104460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001522] [ENSMUST00000065534] [ENSMUST00000093049] [ENSMUST00000108830] [ENSMUST00000108832] [ENSMUST00000124741] [ENSMUST00000212391] [ENSMUST00000212827] [ENSMUST00000212883] [ENSMUST00000132063] [ENSMUST00000128424] [ENSMUST00000127664]
AlphaFold Q99J78
Predicted Effect probably damaging
Transcript: ENSMUST00000001522
AA Change: A266T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482
AA Change: A266T

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 possibly damaging
Transcript: ENSMUST00000065534
AA Change: A254T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482
AA Change: A254T

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 possibly damaging
Transcript: ENSMUST00000093049
AA Change: A254T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482
AA Change: A254T

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 possibly damaging
Transcript: ENSMUST00000108830
AA Change: A254T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482
AA Change: A254T

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: A278T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482
AA Change: A278T

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: ENSMUST00000212391
Predicted Effect probably benign
Transcript: ENSMUST00000212827
Predicted Effect probably benign
Transcript: ENSMUST00000212883
Predicted Effect probably benign
Transcript: ENSMUST00000132063
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: 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
Meta Mutation Damage Score 0.8511 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 97% (76/78)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,899,098 (GRCm39) N693K probably damaging Het
Adgrl3 T A 5: 81,841,454 (GRCm39) V845D probably damaging Het
Anxa8 T A 14: 33,819,896 (GRCm39) F269Y probably benign Het
Anxa8 T A 14: 33,819,897 (GRCm39) F295L possibly damaging Het
Aox4 C G 1: 58,268,025 (GRCm39) L202V probably damaging Het
Ap3s2 A G 7: 79,559,617 (GRCm39) V104A probably benign Het
Aqp3 G A 4: 41,094,843 (GRCm39) probably benign Het
Arhgef26 C T 3: 62,355,680 (GRCm39) H751Y probably benign Het
Asic4 A T 1: 75,446,331 (GRCm39) Q291L possibly damaging Het
Bap1 T C 14: 30,978,681 (GRCm39) Y31H probably damaging Het
Brf1 A T 12: 112,924,759 (GRCm39) V655D probably damaging Het
Cebpz A G 17: 79,238,820 (GRCm39) S663P probably benign Het
Ces2h A G 8: 105,744,693 (GRCm39) D357G probably benign Het
Cfap36 T C 11: 29,194,073 (GRCm39) T90A probably benign Het
Ciita A T 16: 10,330,134 (GRCm39) D803V probably damaging Het
Clnk C A 5: 38,931,951 (GRCm39) probably benign Het
Cyp46a1 A G 12: 108,317,470 (GRCm39) N158S probably damaging Het
Cyp4f13 A G 17: 33,160,080 (GRCm39) I98T possibly damaging Het
Dll3 T A 7: 28,000,746 (GRCm39) D103V possibly damaging Het
Dnai1 T A 4: 41,629,814 (GRCm39) M446K possibly damaging Het
Dppa4 A T 16: 48,111,425 (GRCm39) T85S probably benign Het
Eif4g1 A T 16: 20,494,095 (GRCm39) H57L probably damaging Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Fn1 T A 1: 71,663,269 (GRCm39) Q1073L possibly damaging Het
Foxp4 T C 17: 48,180,104 (GRCm39) D599G unknown Het
Frrs1 T C 3: 116,675,456 (GRCm39) V128A possibly damaging Het
Gcfc2 G A 6: 81,926,935 (GRCm39) D608N probably damaging Het
Gm1043 T C 5: 37,350,317 (GRCm39) probably benign Het
Gm5148 T C 3: 37,768,926 (GRCm39) E98G probably benign Het
Gpr141 T C 13: 19,936,428 (GRCm39) I116V probably benign Het
Hic1 T C 11: 75,058,169 (GRCm39) N240S probably damaging Het
Hpx G A 7: 105,241,445 (GRCm39) T322I probably damaging Het
Hs3st4 A T 7: 123,996,416 (GRCm39) M361L probably benign Het
Ifrd1 A G 12: 40,257,129 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Klk1b21 T A 7: 43,755,319 (GRCm39) C173S probably damaging Het
Krt25 A T 11: 99,213,524 (GRCm39) V65E probably benign Het
Lrrc15 A T 16: 30,092,267 (GRCm39) D357E possibly damaging Het
Lrrd1 T A 5: 3,901,345 (GRCm39) V550E probably benign Het
Macf1 A G 4: 123,334,540 (GRCm39) Y1490H probably damaging Het
Macrod1 A G 19: 7,174,281 (GRCm39) probably benign Het
Mcm5 T A 8: 75,847,508 (GRCm39) V435D probably damaging Het
Mctp1 C T 13: 76,975,831 (GRCm39) R478C probably damaging Het
Med10 T C 13: 69,959,817 (GRCm39) probably benign Het
Mrpl4 T C 9: 20,919,888 (GRCm39) Y280H probably benign Het
Msrb3 T C 10: 120,687,892 (GRCm39) E61G probably damaging Het
Myo1c T C 11: 75,551,827 (GRCm39) Y337H possibly damaging Het
Myo7b T A 18: 32,143,204 (GRCm39) T165S probably damaging Het
Myrfl T A 10: 116,685,138 (GRCm39) R81W probably damaging Het
Neil1 T C 9: 57,051,030 (GRCm39) probably benign Het
Neto2 A G 8: 86,367,673 (GRCm39) I357T possibly damaging Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nkx6-3 T C 8: 23,643,607 (GRCm39) S3P probably benign Het
Or52h7 A T 7: 104,214,210 (GRCm39) I261L probably benign Het
Plce1 T C 19: 38,512,863 (GRCm39) I54T possibly damaging Het
Prex2 A T 1: 11,355,267 (GRCm39) probably benign Het
Psapl1 T A 5: 36,361,975 (GRCm39) V189E probably damaging Het
Ptdss2 T G 7: 140,735,232 (GRCm39) probably benign Het
Rnf213 T C 11: 119,307,322 (GRCm39) C661R probably benign Het
Rpap1 T C 2: 119,595,380 (GRCm39) probably null Het
Rrp1b A G 17: 32,279,426 (GRCm39) T696A probably benign Het
Sacm1l T A 9: 123,377,982 (GRCm39) H87Q probably benign Het
Serpinb11 T A 1: 107,305,260 (GRCm39) M212K probably damaging Het
Tbc1d22a C A 15: 86,183,885 (GRCm39) T248K probably damaging Het
Tcerg1 C T 18: 42,701,679 (GRCm39) probably benign Het
Tpst1 T A 5: 130,130,627 (GRCm39) H32Q probably damaging Het
Tsc2 A T 17: 24,818,600 (GRCm39) V1412E possibly damaging Het
Usp19 C A 9: 108,378,514 (GRCm39) P1326Q possibly damaging Het
Vmn1r235 T A 17: 21,482,596 (GRCm39) M307K probably damaging Het
Vmn2r58 T A 7: 41,487,048 (GRCm39) T616S probably damaging Het
Vps13a G A 19: 16,637,863 (GRCm39) T2406I possibly damaging Het
Zbtb26 T A 2: 37,326,053 (GRCm39) M328L probably benign Het
Zp2 A G 7: 119,736,423 (GRCm39) F340S probably damaging Het
Other mutations in Def8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Def8 APN 8 124,186,389 (GRCm39) missense possibly damaging 0.95
IGL01896:Def8 APN 8 124,186,634 (GRCm39) missense probably benign 0.29
IGL02424:Def8 APN 8 124,186,387 (GRCm39) missense possibly damaging 0.65
IGL02982:Def8 APN 8 124,183,278 (GRCm39) unclassified probably benign
IGL03218:Def8 APN 8 124,183,175 (GRCm39) missense probably damaging 1.00
defensive UTSW 8 124,181,061 (GRCm39) missense probably damaging 1.00
PIT4495001:Def8 UTSW 8 124,186,292 (GRCm39) missense probably benign 0.00
R0003:Def8 UTSW 8 124,183,234 (GRCm39) missense probably damaging 0.98
R0117:Def8 UTSW 8 124,183,234 (GRCm39) missense probably damaging 0.98
R0119:Def8 UTSW 8 124,183,234 (GRCm39) missense probably damaging 0.98
R0135:Def8 UTSW 8 124,183,234 (GRCm39) missense probably damaging 0.98
R0141:Def8 UTSW 8 124,183,234 (GRCm39) missense probably damaging 0.98
R0408:Def8 UTSW 8 124,186,656 (GRCm39) missense probably damaging 1.00
R0636:Def8 UTSW 8 124,181,096 (GRCm39) nonsense probably null
R3890:Def8 UTSW 8 124,185,083 (GRCm39) unclassified probably benign
R3891:Def8 UTSW 8 124,185,083 (GRCm39) unclassified probably benign
R3892:Def8 UTSW 8 124,185,083 (GRCm39) unclassified probably benign
R4904:Def8 UTSW 8 124,188,219 (GRCm39) missense probably damaging 0.96
R5930:Def8 UTSW 8 124,186,809 (GRCm39) unclassified probably benign
R6088:Def8 UTSW 8 124,186,787 (GRCm39) nonsense probably null
R6577:Def8 UTSW 8 124,183,449 (GRCm39) missense probably benign 0.01
R7446:Def8 UTSW 8 124,181,061 (GRCm39) missense probably damaging 1.00
R7498:Def8 UTSW 8 124,174,583 (GRCm39) missense probably damaging 1.00
R7770:Def8 UTSW 8 124,186,798 (GRCm39) missense unknown
R7827:Def8 UTSW 8 124,174,060 (GRCm39) missense probably benign
R8186:Def8 UTSW 8 124,188,215 (GRCm39) nonsense probably null
R8256:Def8 UTSW 8 124,186,368 (GRCm39) missense probably damaging 1.00
R8399:Def8 UTSW 8 124,182,238 (GRCm39) nonsense probably null
R9026:Def8 UTSW 8 124,186,391 (GRCm39) missense probably damaging 1.00
R9230:Def8 UTSW 8 124,186,317 (GRCm39) missense probably benign 0.26
R9359:Def8 UTSW 8 124,185,105 (GRCm39) missense probably benign 0.43
Z1088:Def8 UTSW 8 124,183,237 (GRCm39) missense probably damaging 0.96
Z1176:Def8 UTSW 8 124,186,705 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- TCATTGGGAGAACCCCTAGCACAG -3'
(R):5'- TAGCTGAGTGACCAGCTTGCAGAG -3'

Sequencing Primer
(F):5'- AGATCCATACGATGTGAGTCCTTG -3'
(R):5'- CAGCTTGCAGAGCTAGGACTG -3'
Posted On 2013-07-24