Incidental Mutation 'R2896:Fam83d'
ID 260787
Institutional Source Beutler Lab
Gene Symbol Fam83d
Ensembl Gene ENSMUSG00000027654
Gene Name family with sequence similarity 83, member D
Synonyms 2310007D09Rik
MMRRC Submission 040484-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R2896 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 158610013-158628557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 158627898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 529 (R529Q)
Ref Sequence ENSEMBL: ENSMUSP00000029183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029183]
AlphaFold Q9D7I8
Predicted Effect probably damaging
Transcript: ENSMUST00000029183
AA Change: R529Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029183
Gene: ENSMUSG00000027654
AA Change: R529Q

DomainStartEndE-ValueType
Pfam:DUF1669 17 293 1.4e-100 PFAM
Pfam:PLDc_2 149 288 3.1e-12 PFAM
low complexity region 345 359 N/A INTRINSIC
low complexity region 458 492 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151801
Meta Mutation Damage Score 0.3658 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (30/31)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd14b C T 9: 106,327,313 (GRCm39) R32C probably benign Het
Bpifb4 T G 2: 153,796,357 (GRCm39) probably benign Het
Cachd1 T A 4: 100,828,100 (GRCm39) L616Q probably damaging Het
Cmklr2 T A 1: 63,222,321 (GRCm39) I305L probably benign Het
Crebbp A G 16: 3,956,680 (GRCm39) L381P probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Esp6 T A 17: 40,873,834 (GRCm39) M7K possibly damaging Het
Gm26526 T G 7: 39,238,437 (GRCm39) noncoding transcript Het
Gm8374 T A 14: 18,537,084 (GRCm39) R47* probably null Het
Gss A G 2: 155,406,749 (GRCm39) L342P probably damaging Het
Ighv1-67 T A 12: 115,567,595 (GRCm39) T106S probably damaging Het
Kif21b T C 1: 136,081,955 (GRCm39) Y668H possibly damaging Het
Lcmt1 A G 7: 123,020,809 (GRCm39) R245G possibly damaging Het
Lpar6 A G 14: 73,476,716 (GRCm39) K226E probably damaging Het
Or11h23 T C 14: 50,947,973 (GRCm39) F62S probably damaging Het
Pcdh19 TGTCTCCTCCACGTC TGTC X: 132,582,058 (GRCm39) probably null Het
Pdcl A T 2: 37,245,702 (GRCm39) D100E possibly damaging Het
Phkg1 C A 5: 129,893,471 (GRCm39) K326N possibly damaging Het
Ppp4r3c1 A G X: 88,976,005 (GRCm39) M64T possibly damaging Het
Prss1 G A 6: 41,440,639 (GRCm39) W238* probably null Het
Rdh10 A T 1: 16,176,329 (GRCm39) probably null Het
Ror1 T C 4: 99,953,477 (GRCm39) L21P unknown Het
Skint8 A G 4: 111,807,333 (GRCm39) I340V probably null Het
Spata18 T C 5: 73,815,145 (GRCm39) S85P probably damaging Het
Stard6 G A 18: 70,609,459 (GRCm39) V33I probably benign Het
Ttll3 G T 6: 113,369,683 (GRCm39) A76S probably benign Het
Ttll4 T A 1: 74,724,517 (GRCm39) H562Q possibly damaging Het
Ubn1 A G 16: 4,873,083 (GRCm39) H35R possibly damaging Het
Ubr4 A G 4: 139,182,955 (GRCm39) probably null Het
Zfp456 T C 13: 67,515,416 (GRCm39) R97G possibly damaging Het
Other mutations in Fam83d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Fam83d APN 2 158,627,793 (GRCm39) missense probably benign 0.37
IGL02420:Fam83d APN 2 158,627,655 (GRCm39) missense probably benign 0.00
R0277:Fam83d UTSW 2 158,627,467 (GRCm39) missense probably benign 0.05
R0323:Fam83d UTSW 2 158,627,467 (GRCm39) missense probably benign 0.05
R0349:Fam83d UTSW 2 158,621,768 (GRCm39) missense possibly damaging 0.95
R0571:Fam83d UTSW 2 158,627,611 (GRCm39) nonsense probably null
R0799:Fam83d UTSW 2 158,621,808 (GRCm39) missense probably damaging 1.00
R1164:Fam83d UTSW 2 158,625,170 (GRCm39) missense probably damaging 1.00
R1168:Fam83d UTSW 2 158,610,443 (GRCm39) missense probably benign 0.01
R1186:Fam83d UTSW 2 158,627,094 (GRCm39) missense probably damaging 1.00
R1816:Fam83d UTSW 2 158,610,070 (GRCm39) missense possibly damaging 0.55
R4500:Fam83d UTSW 2 158,627,187 (GRCm39) missense probably benign 0.10
R4597:Fam83d UTSW 2 158,627,142 (GRCm39) missense possibly damaging 0.94
R5416:Fam83d UTSW 2 158,627,552 (GRCm39) missense possibly damaging 0.75
R5866:Fam83d UTSW 2 158,621,750 (GRCm39) splice site probably null
R6328:Fam83d UTSW 2 158,627,096 (GRCm39) missense probably damaging 1.00
R6364:Fam83d UTSW 2 158,625,179 (GRCm39) critical splice donor site probably null
R7031:Fam83d UTSW 2 158,627,227 (GRCm39) missense probably benign 0.01
R8721:Fam83d UTSW 2 158,627,522 (GRCm39) missense probably benign 0.33
R9208:Fam83d UTSW 2 158,610,466 (GRCm39) missense probably damaging 1.00
R9801:Fam83d UTSW 2 158,610,310 (GRCm39) missense probably damaging 1.00
Z1177:Fam83d UTSW 2 158,627,108 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACGAGAGCTTCCTTCCTC -3'
(R):5'- AACCCGGCAGTCACTGATAG -3'

Sequencing Primer
(F):5'- GCATCCAAGATGTCAGTGTCG -3'
(R):5'- CGGCAGTCACTGATAGGGAGG -3'
Posted On 2015-01-23