Incidental Mutation 'R8399:Def8'
ID 647772
Institutional Source Beutler Lab
Gene Symbol Def8
Ensembl Gene ENSMUSG00000001482
Gene Name differentially expressed in FDCP 8
Synonyms D8Ertd713e
MMRRC Submission 067762-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R8399 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 124169725-124190009 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 124182238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 197 (Y197*)
Ref Sequence ENSEMBL: ENSMUSP00000090737 (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 null
Transcript: ENSMUST00000001522
AA Change: Y209*
SMART Domains Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482
AA Change: Y209*

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 null
Transcript: ENSMUST00000065534
AA Change: Y197*
SMART Domains Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482
AA Change: Y197*

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 null
Transcript: ENSMUST00000093049
AA Change: Y197*
SMART Domains Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482
AA Change: Y197*

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 null
Transcript: ENSMUST00000108830
AA Change: Y197*
SMART Domains Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482
AA Change: Y197*

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 null
Transcript: ENSMUST00000108832
AA Change: Y221*
SMART Domains Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482
AA Change: Y221*

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 null
Transcript: ENSMUST00000128424
AA Change: Y209*
SMART Domains Protein: ENSMUSP00000115137
Gene: ENSMUSG00000001482
AA Change: Y209*

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,637,289 (GRCm39) V3384D possibly damaging Het
Apba3 C A 10: 81,104,832 (GRCm39) T35N probably benign Het
Bcl6 T C 16: 23,791,698 (GRCm39) M219V probably benign Het
Bco2 T A 9: 50,452,418 (GRCm39) T217S probably benign Het
C1s1 C T 6: 124,512,252 (GRCm39) V277I probably benign Het
Ccdc162 T A 10: 41,415,517 (GRCm39) R2149W probably damaging Het
Cers6 T C 2: 68,692,115 (GRCm39) F46L probably benign Het
Chpf T C 1: 75,452,864 (GRCm39) I359V probably benign Het
Chrnb4 A C 9: 54,951,107 (GRCm39) L52R probably benign Het
Cox6a1 T C 5: 115,483,958 (GRCm39) T95A probably damaging Het
Dmbt1 C G 7: 130,684,317 (GRCm39) D778E unknown Het
Dnaaf3 C T 7: 4,526,936 (GRCm39) probably null Het
Dnm1l T A 16: 16,139,536 (GRCm39) H484L probably damaging Het
Eml1 G A 12: 108,504,390 (GRCm39) S783N possibly damaging Het
Frmd4a T C 2: 4,577,244 (GRCm39) S367P probably damaging Het
Hck A C 2: 152,980,237 (GRCm39) K355N probably damaging Het
Hexim2 G T 11: 103,029,329 (GRCm39) R127L probably damaging Het
Hivep2 T C 10: 14,008,178 (GRCm39) L1592P possibly damaging Het
Htr1d G A 4: 136,170,686 (GRCm39) G305E probably damaging Het
Ifi207 G A 1: 173,557,844 (GRCm39) S298L unknown Het
Ighv1-11 A G 12: 114,576,047 (GRCm39) V56A possibly damaging Het
Ighv7-1 G A 12: 113,860,532 (GRCm39) T12I unknown Het
Kctd14 T C 7: 97,106,811 (GRCm39) L22P probably damaging Het
Klra17 T C 6: 129,851,900 (GRCm39) probably benign Het
Kndc1 C T 7: 139,493,434 (GRCm39) R467W probably damaging Het
Maf T A 8: 116,433,251 (GRCm39) I118F unknown Het
Mppe1 T C 18: 67,358,946 (GRCm39) T341A probably benign Het
Mtmr2 T A 9: 13,703,363 (GRCm39) V186E probably benign Het
Nedd9 G T 13: 41,471,950 (GRCm39) Y176* probably null Het
Omd A G 13: 49,743,345 (GRCm39) I132V possibly damaging Het
Or12e10 A C 2: 87,640,568 (GRCm39) M135L probably damaging Het
Or4a39 T C 2: 89,237,028 (GRCm39) T132A probably benign Het
Pcnx4 T A 12: 72,620,985 (GRCm39) M935K probably benign Het
Pecr G A 1: 72,306,624 (GRCm39) T219I probably benign Het
Pkd1l3 C T 8: 110,350,520 (GRCm39) P455L possibly damaging Het
Plcg2 T C 8: 118,323,101 (GRCm39) Y719H probably damaging Het
Plk4 C T 3: 40,763,265 (GRCm39) R479* probably null Het
Pms1 T A 1: 53,307,091 (GRCm39) probably null Het
Raph1 C T 1: 60,528,477 (GRCm39) S928N unknown Het
Rtp4 G T 16: 23,339,164 (GRCm39) probably benign Het
Skor1 C T 9: 63,052,440 (GRCm39) V510I possibly damaging Het
Smg1 T C 7: 117,789,794 (GRCm39) T699A unknown Het
Tcp11l1 T C 2: 104,515,720 (GRCm39) D381G probably benign Het
Tnik T A 3: 28,548,159 (GRCm39) M56K unknown Het
Trappc9 G A 15: 72,924,131 (GRCm39) R204C probably damaging Het
Trmt10b A T 4: 45,305,870 (GRCm39) M184L possibly damaging Het
Vmn1r224 T A 17: 20,640,011 (GRCm39) I196N probably damaging Het
Vmn1r49 A T 6: 90,049,689 (GRCm39) C104* probably null Het
Vmn2r35 A C 7: 7,819,897 (GRCm39) S124R probably benign Het
Wdr62 T C 7: 29,957,486 (GRCm39) E547G probably damaging Het
Zfp68 A T 5: 138,606,082 (GRCm39) D80E probably benign 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
R0138: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
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'- TATGGACATTACAGGGAAGCC -3'
(R):5'- TTATGTAGCTGCCGTAGAGAGC -3'

Sequencing Primer
(F):5'- CATTACAGGGAAGCCAATGGTGTG -3'
(R):5'- GCCGTAGAGAGCTTTCTCACAC -3'
Posted On 2020-09-02