Incidental Mutation 'R4037:Efcc1'
ID 313754
Institutional Source Beutler Lab
Gene Symbol Efcc1
Ensembl Gene ENSMUSG00000068263
Gene Name EF hand and coiled-coil domain containing 1
Synonyms AB041550, Ccdc48
MMRRC Submission 040964-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4037 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 87707851-87732890 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 87708490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 206 (Q206*)
Ref Sequence ENSEMBL: ENSMUSP00000138649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032132] [ENSMUST00000159570]
AlphaFold Q9JJF6
Predicted Effect probably null
Transcript: ENSMUST00000032132
AA Change: Q206*
SMART Domains Protein: ENSMUSP00000032132
Gene: ENSMUSG00000068263
AA Change: Q206*

DomainStartEndE-ValueType
Pfam:CCD48 7 558 3.6e-295 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159570
AA Change: Q206*
SMART Domains Protein: ENSMUSP00000138649
Gene: ENSMUSG00000068263
AA Change: Q206*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 93% (37/40)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,597,319 (GRCm39) F881L probably benign Het
Capn6 A G X: 142,590,859 (GRCm39) W291R probably damaging Het
Cdc27 T C 11: 104,398,033 (GRCm39) I776V probably damaging Het
Cpne5 C T 17: 29,378,087 (GRCm39) R564H unknown Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Dcc A G 18: 72,483,468 (GRCm39) L17P possibly damaging Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Eef2kmt A T 16: 5,063,135 (GRCm39) V335D probably damaging Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gpr137c C A 14: 45,457,687 (GRCm39) L80I probably damaging Het
Hcls1 A G 16: 36,776,987 (GRCm39) T226A possibly damaging Het
Hmcn1 T A 1: 150,648,253 (GRCm39) T678S probably benign Het
Hspa2 T C 12: 76,452,542 (GRCm39) V412A probably damaging Het
Hspb8 A G 5: 116,547,403 (GRCm39) V193A probably benign Het
Man1c1 C T 4: 134,320,650 (GRCm39) D217N probably damaging Het
Metrn T C 17: 26,013,984 (GRCm39) T281A probably benign Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Ncoa6 G A 2: 155,249,290 (GRCm39) S1338L probably damaging Het
Ogfrl1 T C 1: 23,418,045 (GRCm39) probably benign Het
Or4a73 C T 2: 89,421,379 (GRCm39) V27I probably benign Het
Or4c113 A G 2: 88,885,032 (GRCm39) V246A probably damaging Het
Pax4 A G 6: 28,443,882 (GRCm39) I241T probably benign Het
Prkaa2 T C 4: 104,908,444 (GRCm39) N144D probably damaging Het
Rims1 T C 1: 22,514,793 (GRCm39) S537G probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ruvbl1 T A 6: 88,450,117 (GRCm39) M96K probably damaging Het
Sdk2 T C 11: 113,685,881 (GRCm39) I1880V probably damaging Het
Sis T C 3: 72,835,935 (GRCm39) N885D probably benign Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc36a2 T C 11: 55,055,101 (GRCm39) D318G probably benign Het
Slc38a4 G A 15: 96,894,923 (GRCm39) A531V probably benign Het
Stat3 C T 11: 100,783,951 (GRCm39) G658R probably damaging Het
Tnfrsf11a A G 1: 105,755,464 (GRCm39) probably null Het
Tnk2 G T 16: 32,489,614 (GRCm39) A298S probably damaging Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Wipf3 G A 6: 54,458,813 (GRCm39) G56D 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
R4534:Efcc1 UTSW 6 87,730,133 (GRCm39) missense probably null 1.00
R4535: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'- TATTTCAGTAGCCGAGCGGG -3'
(R):5'- GCTACTTAAACAGGTTCCTTCTAGG -3'

Sequencing Primer
(F):5'- TTAGCGAGCACATCGAGA -3'
(R):5'- ACTTGGGTAGGAAGTTGGGATC -3'
Posted On 2015-04-30