Incidental Mutation 'R4535:Efcc1'
ID 333285
Institutional Source Beutler Lab
Gene Symbol Efcc1
Ensembl Gene ENSMUSG00000068263
Gene Name EF hand and coiled-coil domain containing 1
Synonyms AB041550, Ccdc48
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4535 (G1)
Quality Score 224
Status Not validated
Chromosome 6
Chromosomal Location 87707851-87732890 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87730133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 482 (D482G)
Ref Sequence ENSEMBL: ENSMUSP00000032132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032132] [ENSMUST00000159570]
AlphaFold Q9JJF6
Predicted Effect probably null
Transcript: ENSMUST00000032132
AA Change: D482G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032132
Gene: ENSMUSG00000068263
AA Change: D482G

DomainStartEndE-ValueType
Pfam:CCD48 7 558 3.6e-295 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159570
AA Change: D481G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138649
Gene: ENSMUSG00000068263
AA Change: D481G

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: ENSMUST00000159681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159956
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 T C 1: 34,762,162 (GRCm39) S473P unknown Het
Azin1 A T 15: 38,493,849 (GRCm39) I258N probably benign Het
Bod1l G A 5: 41,989,574 (GRCm39) A383V probably benign Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Cd4 A T 6: 124,847,414 (GRCm39) F250Y probably benign Het
Clcn4 T A 7: 7,290,813 (GRCm39) Y662F probably benign Het
Cpa2 T C 6: 30,552,020 (GRCm39) V249A probably benign Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dhx57 A G 17: 80,582,511 (GRCm39) Y365H probably damaging Het
Dsg1c A G 18: 20,408,322 (GRCm39) E457G probably benign Het
Eef2k T A 7: 120,457,822 (GRCm39) Y60* probably null Het
Exoc4 C T 6: 33,254,179 (GRCm39) R112C probably damaging Het
Fam178b A T 1: 36,639,606 (GRCm39) D293E probably benign Het
Fbxl21 G A 13: 56,674,873 (GRCm39) V49I probably damaging Het
Fyco1 A G 9: 123,667,953 (GRCm39) V91A probably damaging Het
H2-M10.4 T C 17: 36,772,736 (GRCm39) E82G probably damaging Het
Hmcn1 A G 1: 150,439,531 (GRCm39) I5434T probably damaging Het
Hormad1 T C 3: 95,492,452 (GRCm39) V343A probably benign Het
Incenp T C 19: 9,861,303 (GRCm39) N450S unknown Het
Iqsec3 T C 6: 121,356,977 (GRCm39) K1035E possibly damaging Het
Ltn1 A T 16: 87,223,174 (GRCm39) V102D probably damaging Het
Mcur1 T C 13: 43,698,016 (GRCm39) T295A probably damaging Het
Pals1 A T 12: 78,871,611 (GRCm39) D397V possibly damaging Het
Pcdha3 T C 18: 37,081,013 (GRCm39) V585A probably damaging Het
Plcd4 A G 1: 74,602,627 (GRCm39) T594A probably damaging Het
Ppp1r3c T C 19: 36,711,522 (GRCm39) K83E probably damaging Het
Sesn3 C A 9: 14,233,954 (GRCm39) T309K probably benign Het
Slc38a3 T C 9: 107,533,405 (GRCm39) N251S probably benign Het
Sptbn4 A G 7: 27,067,127 (GRCm39) V614A probably damaging Het
Srsf4 A G 4: 131,601,175 (GRCm39) K34R probably damaging Het
Tfpi2 T C 6: 3,968,044 (GRCm39) N32S possibly damaging Het
Ttll2 A T 17: 7,619,120 (GRCm39) I269N probably benign Het
Utp3 T C 5: 88,703,458 (GRCm39) V329A probably benign Het
Vmn2r102 A G 17: 19,914,975 (GRCm39) T847A probably benign Het
Vmn2r70 A T 7: 85,214,541 (GRCm39) W204R probably damaging Het
Xrcc3 A G 12: 111,770,966 (GRCm39) L321P probably damaging Het
Other mutations in Efcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02868:Efcc1 APN 6 87,728,743 (GRCm39) splice site probably benign
R0211:Efcc1 UTSW 6 87,726,136 (GRCm39) missense probably benign 0.06
R0211:Efcc1 UTSW 6 87,726,136 (GRCm39) missense probably benign 0.06
R1531:Efcc1 UTSW 6 87,708,148 (GRCm39) missense probably benign 0.28
R1595:Efcc1 UTSW 6 87,708,440 (GRCm39) missense probably damaging 0.99
R1757:Efcc1 UTSW 6 87,726,265 (GRCm39) splice site probably benign
R4037:Efcc1 UTSW 6 87,708,490 (GRCm39) nonsense probably null
R4534:Efcc1 UTSW 6 87,730,133 (GRCm39) missense probably null 1.00
R5799:Efcc1 UTSW 6 87,708,164 (GRCm39) missense probably benign 0.05
R6010:Efcc1 UTSW 6 87,730,711 (GRCm39) splice site probably null
R7235:Efcc1 UTSW 6 87,730,780 (GRCm39) missense probably benign 0.00
R7375:Efcc1 UTSW 6 87,728,838 (GRCm39) missense possibly damaging 0.75
R7478:Efcc1 UTSW 6 87,707,972 (GRCm39) missense probably damaging 1.00
R8116:Efcc1 UTSW 6 87,728,772 (GRCm39) missense probably damaging 0.97
R8926:Efcc1 UTSW 6 87,726,169 (GRCm39) missense probably benign 0.06
R8948:Efcc1 UTSW 6 87,728,768 (GRCm39) missense probably benign 0.10
Z1176:Efcc1 UTSW 6 87,709,778 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GACTAGGCGATCTCTGCAAGTG -3'
(R):5'- CCACACAGGCTTCTCATCAG -3'

Sequencing Primer
(F):5'- ATCTCTGCAAGTGTCCAGGAG -3'
(R):5'- AGGCTTCTCATCAGCGCCTG -3'
Posted On 2015-08-18