Incidental Mutation 'R6438:Efcab7'
ID 518851
Institutional Source Beutler Lab
Gene Symbol Efcab7
Ensembl Gene ENSMUSG00000073791
Gene Name EF-hand calcium binding domain 7
Synonyms
MMRRC Submission 044576-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6438 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 99717440-99769985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99766969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 505 (S505T)
Ref Sequence ENSEMBL: ENSMUSP00000095572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097959] [ENSMUST00000136874]
AlphaFold Q8VDY4
Predicted Effect probably benign
Transcript: ENSMUST00000097959
AA Change: S505T

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095572
Gene: ENSMUSG00000073791
AA Change: S505T

DomainStartEndE-ValueType
low complexity region 85 99 N/A INTRINSIC
SCOP:d2pvba_ 339 408 2e-4 SMART
Blast:EFh 348 376 2e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123830
Predicted Effect probably benign
Transcript: ENSMUST00000136874
AA Change: S65T

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.0%
Validation Efficiency 100% (35/35)
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ado A T 10: 67,384,371 (GRCm39) I78N probably damaging Het
Arhgap18 T C 10: 26,648,694 (GRCm39) probably null Het
Arl11 A G 14: 61,548,393 (GRCm39) T68A probably benign Het
Atxn2 T A 5: 121,917,495 (GRCm39) I463N probably damaging Het
B3gnt4 G A 5: 123,649,654 (GRCm39) E340K probably benign Het
C1ra C T 6: 124,490,736 (GRCm39) T43I possibly damaging Het
C6 T A 15: 4,826,465 (GRCm39) Y683N possibly damaging Het
Catspere2 T C 1: 177,938,869 (GRCm39) Y581H possibly damaging Het
Cdk12 T A 11: 98,115,293 (GRCm39) Y811* probably null Het
Cfap20dc C T 14: 8,431,701 (GRCm38) V644M probably damaging Het
Chd9 A T 8: 91,725,149 (GRCm39) E1159D probably benign Het
Erich3 A T 3: 154,401,390 (GRCm39) Y13F probably damaging Het
Esco1 A T 18: 10,572,031 (GRCm39) C770S probably damaging Het
Evpl C A 11: 116,120,927 (GRCm39) R436L probably benign Het
Fam185a T A 5: 21,663,970 (GRCm39) probably null Het
Gm17078 A G 14: 51,848,695 (GRCm39) V14A probably benign Het
Hectd2 T C 19: 36,596,242 (GRCm39) *776Q probably null Het
Ldb2 T C 5: 44,637,652 (GRCm39) R219G probably damaging Het
Lrrn4 T C 2: 132,712,062 (GRCm39) E587G probably damaging Het
Malrd1 T C 2: 15,619,017 (GRCm39) S294P Het
Map7 A G 10: 20,143,003 (GRCm39) E384G unknown Het
Miga1 T C 3: 152,028,040 (GRCm39) D163G probably damaging Het
Myo7b G A 18: 32,099,382 (GRCm39) S1680F probably damaging Het
Nell2 C T 15: 95,130,379 (GRCm39) V665M probably damaging Het
Npas3 T C 12: 54,115,481 (GRCm39) V770A probably damaging Het
Pcm1 C T 8: 41,778,418 (GRCm39) R1818W possibly damaging Het
Slc4a9 T A 18: 36,668,740 (GRCm39) N701K probably benign Het
Slc5a9 A G 4: 111,749,022 (GRCm39) V187A probably benign Het
Slf1 A T 13: 77,214,725 (GRCm39) C654S probably damaging Het
Srek1ip1 A G 13: 104,973,878 (GRCm39) Y95C probably benign Het
Synpo2l A G 14: 20,711,204 (GRCm39) V472A probably benign Het
Tmem168 A T 6: 13,602,673 (GRCm39) I231N probably benign Het
Usp34 T C 11: 23,314,266 (GRCm39) M717T probably benign Het
Zfp672 T C 11: 58,207,563 (GRCm39) T253A probably benign Het
Other mutations in Efcab7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Efcab7 APN 4 99,719,700 (GRCm39) missense probably benign 0.12
3-1:Efcab7 UTSW 4 99,758,966 (GRCm39) missense possibly damaging 0.83
R0023:Efcab7 UTSW 4 99,758,834 (GRCm39) splice site probably benign
R0085:Efcab7 UTSW 4 99,761,877 (GRCm39) unclassified probably benign
R0122:Efcab7 UTSW 4 99,749,560 (GRCm39) splice site probably benign
R0326:Efcab7 UTSW 4 99,719,631 (GRCm39) missense possibly damaging 0.86
R0382:Efcab7 UTSW 4 99,758,966 (GRCm39) missense possibly damaging 0.83
R0410:Efcab7 UTSW 4 99,735,487 (GRCm39) critical splice donor site probably null
R0413:Efcab7 UTSW 4 99,766,943 (GRCm39) missense probably damaging 1.00
R0611:Efcab7 UTSW 4 99,758,886 (GRCm39) missense probably damaging 1.00
R0689:Efcab7 UTSW 4 99,761,981 (GRCm39) missense probably damaging 1.00
R1114:Efcab7 UTSW 4 99,735,452 (GRCm39) nonsense probably null
R1459:Efcab7 UTSW 4 99,769,744 (GRCm39) missense probably null 1.00
R1722:Efcab7 UTSW 4 99,757,815 (GRCm39) missense probably benign 0.36
R1932:Efcab7 UTSW 4 99,768,215 (GRCm39) missense probably damaging 1.00
R1954:Efcab7 UTSW 4 99,757,887 (GRCm39) missense probably damaging 1.00
R2305:Efcab7 UTSW 4 99,719,718 (GRCm39) missense possibly damaging 0.95
R2358:Efcab7 UTSW 4 99,719,823 (GRCm39) unclassified probably benign
R2845:Efcab7 UTSW 4 99,766,835 (GRCm39) missense probably damaging 0.99
R3915:Efcab7 UTSW 4 99,735,375 (GRCm39) missense probably damaging 0.98
R4469:Efcab7 UTSW 4 99,766,901 (GRCm39) missense possibly damaging 0.73
R4686:Efcab7 UTSW 4 99,735,318 (GRCm39) missense probably benign 0.29
R4737:Efcab7 UTSW 4 99,719,805 (GRCm39) nonsense probably null
R4970:Efcab7 UTSW 4 99,719,780 (GRCm39) missense probably damaging 1.00
R5120:Efcab7 UTSW 4 99,754,688 (GRCm39) missense probably damaging 1.00
R5264:Efcab7 UTSW 4 99,735,372 (GRCm39) missense probably benign 0.27
R5366:Efcab7 UTSW 4 99,761,931 (GRCm39) missense possibly damaging 0.95
R5901:Efcab7 UTSW 4 99,766,941 (GRCm39) missense probably damaging 0.99
R6255:Efcab7 UTSW 4 99,717,627 (GRCm39) unclassified probably benign
R6451:Efcab7 UTSW 4 99,719,738 (GRCm39) nonsense probably null
R6717:Efcab7 UTSW 4 99,761,931 (GRCm39) missense possibly damaging 0.95
R6766:Efcab7 UTSW 4 99,735,161 (GRCm39) frame shift probably null
R6855:Efcab7 UTSW 4 99,757,777 (GRCm39) nonsense probably null
R6865:Efcab7 UTSW 4 99,769,793 (GRCm39) missense probably damaging 1.00
R7868:Efcab7 UTSW 4 99,746,154 (GRCm39) missense probably benign 0.01
R7893:Efcab7 UTSW 4 99,746,058 (GRCm39) missense probably damaging 1.00
R8069:Efcab7 UTSW 4 99,717,615 (GRCm39) missense unknown
R8787:Efcab7 UTSW 4 99,757,791 (GRCm39) missense probably null 0.99
R9214:Efcab7 UTSW 4 99,735,437 (GRCm39) missense probably damaging 1.00
R9649:Efcab7 UTSW 4 99,761,902 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGGAGGCTAATCCAAGATTTTG -3'
(R):5'- GGGTATTTGGCTGCAATATAAGAAG -3'

Sequencing Primer
(F):5'- AGGCATGCCCATTTGTCATCAAC -3'
(R):5'- GGCTGCAATATAAGAAGGAAGATAAC -3'
Posted On 2018-05-24