Incidental Mutation 'R5799:Efcc1'
ID447396
Institutional Source Beutler Lab
Gene Symbol Efcc1
Ensembl Gene ENSMUSG00000068263
Gene NameEF hand and coiled-coil domain containing 1
SynonymsAB041550, Ccdc48
MMRRC Submission 043388-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #R5799 (G1)
Quality Score138
Status Validated
Chromosome6
Chromosomal Location87730869-87755908 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87731182 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 97 (N97S)
Ref Sequence ENSEMBL: ENSMUSP00000032132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032132] [ENSMUST00000159570]
Predicted Effect probably benign
Transcript: ENSMUST00000032132
AA Change: N97S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000032132
Gene: ENSMUSG00000068263
AA Change: N97S

DomainStartEndE-ValueType
Pfam:CCD48 7 558 3.6e-295 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159570
AA Change: N97S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138649
Gene: ENSMUSG00000068263
AA Change: N97S

DomainStartEndE-ValueType
low complexity region 160 170 N/A INTRINSIC
coiled coil region 179 307 N/A INTRINSIC
low complexity region 344 355 N/A INTRINSIC
low complexity region 479 492 N/A INTRINSIC
low complexity region 539 553 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205253
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 89% (51/57)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik T C 10: 116,112,769 E284G probably damaging Het
AA986860 C T 1: 130,741,171 Q92* probably null Het
Accsl T C 2: 93,864,403 probably null Het
Ahnak2 T C 12: 112,778,930 probably benign Het
Alcam T C 16: 52,309,849 D46G probably benign Het
Asap2 T C 12: 21,168,246 S57P probably damaging Het
Atg14 A T 14: 47,547,295 V314D possibly damaging Het
C230029F24Rik C T 1: 49,338,148 noncoding transcript Het
Calcr A T 6: 3,707,592 I236N probably benign Het
Cass4 G A 2: 172,416,187 G35E probably damaging Het
Chmp6 T C 11: 119,916,691 I120T probably benign Het
Col13a1 A G 10: 61,849,140 probably benign Het
Ddhd2 T A 8: 25,748,602 L328F probably damaging Het
Dnmt3l A G 10: 78,052,026 D123G possibly damaging Het
Eea1 T A 10: 96,002,948 V287E possibly damaging Het
Exd1 A G 2: 119,538,781 S118P probably benign Het
Ext2 G T 2: 93,811,972 T184K probably benign Het
Fam186a G A 15: 99,966,824 Q42* probably null Het
Gbp2 A T 3: 142,632,082 I320L probably benign Het
Gm15292 T A 8: 21,250,343 probably null Het
Gm5483 T A 16: 36,184,261 M1K probably null Het
Gramd2 G A 9: 59,708,016 G13R probably benign Het
H2-Q5 T C 17: 35,394,139 M5T unknown Het
Jak3 C T 8: 71,678,700 L70F probably damaging Het
Lhpp G A 7: 132,705,635 V254M probably damaging Het
Lig1 T A 7: 13,296,258 V387E possibly damaging Het
Lipo1 T C 19: 33,777,693 probably benign Het
Lrrc8b C T 5: 105,481,342 S518L probably benign Het
Narf T C 11: 121,244,654 Y111H probably damaging Het
Ncf4 A G 15: 78,250,977 K78R probably benign Het
Nrap A T 19: 56,342,169 C1118* probably null Het
Nubp2 A G 17: 24,885,798 V23A probably damaging Het
Olfr723 A T 14: 49,929,040 F168Y probably damaging Het
Olfr818 A T 10: 129,945,911 D50E possibly damaging Het
Olfr972 T C 9: 39,874,096 S274P possibly damaging Het
Pdzd7 G A 19: 45,036,989 P356S probably benign Het
Rttn T C 18: 89,037,946 V984A probably damaging Het
Ryr3 A G 2: 112,686,580 S3334P probably damaging Het
Senp7 G A 16: 56,139,105 probably null Het
Slc25a3 A C 10: 91,122,041 Y50D probably benign Het
Slc35e2 C T 4: 155,610,026 P10L probably benign Het
Slc38a2 A T 15: 96,695,089 S163T probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Stam2 A T 2: 52,720,910 C4* probably null Het
Taf1a A G 1: 183,395,934 D50G possibly damaging Het
Taf6l A T 19: 8,782,631 Y106N possibly damaging Het
Tbx20 G A 9: 24,725,520 Q424* probably null Het
Tex10 A G 4: 48,433,295 V829A possibly damaging Het
Tgfbr3 T C 5: 107,109,608 probably benign Het
Tnfsf10 G T 3: 27,335,593 V268F probably damaging Het
Trrap A G 5: 144,830,945 T2571A probably benign Het
Other mutations in Efcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02868:Efcc1 APN 6 87751761 splice site probably benign
R0211:Efcc1 UTSW 6 87749154 missense probably benign 0.06
R0211:Efcc1 UTSW 6 87749154 missense probably benign 0.06
R1531:Efcc1 UTSW 6 87731166 missense probably benign 0.28
R1595:Efcc1 UTSW 6 87731458 missense probably damaging 0.99
R1757:Efcc1 UTSW 6 87749283 splice site probably benign
R4037:Efcc1 UTSW 6 87731508 nonsense probably null
R4534:Efcc1 UTSW 6 87753151 missense probably null 1.00
R4535:Efcc1 UTSW 6 87753151 missense probably null 1.00
R6010:Efcc1 UTSW 6 87753729 splice site probably null
R7235:Efcc1 UTSW 6 87753798 missense probably benign 0.00
R7375:Efcc1 UTSW 6 87751856 missense possibly damaging 0.75
R7478:Efcc1 UTSW 6 87730990 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTACCGGTCTGGATCAGTATC -3'
(R):5'- CGCGTAGGCTACTGTTTTCC -3'

Sequencing Primer
(F):5'- CCGGTCTGGATCAGTATCTGCAG -3'
(R):5'- TCTAGATGTGCCACCCGC -3'
Posted On2016-12-15