Incidental Mutation 'R8214:Efcab2'
ID636299
Institutional Source Beutler Lab
Gene Symbol Efcab2
Ensembl Gene ENSMUSG00000026495
Gene NameEF-hand calcium binding domain 2
Synonyms1700073K01Rik, D830011E08Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8214 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location178406085-178484513 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 178437450 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 27 (V27A)
Ref Sequence ENSEMBL: ENSMUSP00000027775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027775]
Predicted Effect probably benign
Transcript: ENSMUST00000027775
AA Change: V27A

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000027775
Gene: ENSMUSG00000026495
AA Change: V27A

DomainStartEndE-ValueType
EFh 20 48 1.4e0 SMART
EFh 98 126 2.63e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G A 11: 58,286,621 R52Q Het
Abcc3 C T 11: 94,363,518 R718H probably damaging Het
Abcc4 T C 14: 118,500,841 M1166V probably benign Het
Abhd16b C T 2: 181,494,190 T295I probably damaging Het
Amph A G 13: 19,104,298 N319S possibly damaging Het
Ankrd27 A G 7: 35,614,519 D425G probably damaging Het
Atg4b T C 1: 93,784,887 S316P probably damaging Het
Brd4 A G 17: 32,212,947 S649P probably benign Het
Bzw1 T C 1: 58,405,037 S411P probably damaging Het
Dnah6 T C 6: 73,044,728 D3537G probably damaging Het
Dnpep A T 1: 75,315,998 W126R probably damaging Het
Kctd21 T C 7: 97,347,341 L7P probably damaging Het
Kidins220 C T 12: 24,994,855 T216I probably damaging Het
Lpl T A 8: 68,892,605 M87K probably damaging Het
Lrrc16a T C 13: 24,044,232 E987G probably damaging Het
Ltn1 A G 16: 87,380,803 V1646A probably benign Het
Madcam1 A G 10: 79,666,758 T359A probably benign Het
Muc5ac A G 7: 141,802,948 K1092E possibly damaging Het
Nrg2 T C 18: 36,196,676 E162G probably benign Het
Olfr1333 A T 4: 118,830,091 F117L probably benign Het
Olfr474 T A 7: 107,954,967 S109T probably benign Het
Olfr589 A C 7: 103,155,406 S114A probably damaging Het
Pcdhb5 G T 18: 37,321,583 V339L probably benign Het
Plec A G 15: 76,192,284 W145R unknown Het
Polr3f A G 2: 144,536,310 N201D probably benign Het
Skint5 T C 4: 113,804,942 probably null Het
Slc12a2 A G 18: 57,937,719 I1048V probably benign Het
Sult2a4 A G 7: 13,989,476 I39T probably benign Het
Tenm4 T C 7: 96,895,407 V2247A probably damaging Het
Tg C T 15: 66,773,398 R2385C probably damaging Het
Tomm70a G T 16: 57,121,967 A36S unknown Het
Top2b G A 14: 16,383,177 R55H probably damaging Het
Unc45b A G 11: 82,933,888 I629M possibly damaging Het
Vmn1r16 T C 6: 57,323,439 E66G noncoding transcript Het
Vmn1r189 C T 13: 22,102,131 V179I probably benign Het
Vmn2r105 T G 17: 20,228,513 E134A probably benign Het
Wdr70 G A 15: 7,887,370 A522V probably benign Het
Zcchc11 A G 4: 108,512,150 I636V probably benign Het
Zfp184 T A 13: 21,958,825 C234S probably damaging Het
Zscan5b C T 7: 6,233,947 P232S possibly damaging Het
Other mutations in Efcab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Efcab2 APN 1 178437392 splice site probably benign
IGL01865:Efcab2 APN 1 178475688 nonsense probably null
IGL03122:Efcab2 APN 1 178437477 missense probably damaging 1.00
R0153:Efcab2 UTSW 1 178474886 missense possibly damaging 0.87
R0309:Efcab2 UTSW 1 178475904 splice site probably benign
R0652:Efcab2 UTSW 1 178481346 missense probably damaging 1.00
R1115:Efcab2 UTSW 1 178437497 splice site probably benign
R5952:Efcab2 UTSW 1 178475874 missense probably benign 0.09
R6313:Efcab2 UTSW 1 178481371 missense probably benign 0.01
R6679:Efcab2 UTSW 1 178437404 missense probably benign 0.00
R7021:Efcab2 UTSW 1 178481360 missense probably benign 0.00
R8442:Efcab2 UTSW 1 178437436 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTCTCACAGCAGACAGATGG -3'
(R):5'- TCTCTCCACTAGACTACAAAGAATAGG -3'

Sequencing Primer
(F):5'- ACAGATGGATGGGTGGATGCTC -3'
(R):5'- TCTTGAAGTGGTAGTTAGCAAAAAC -3'
Posted On2020-07-13