Incidental Mutation 'R7257:Efcab5'
ID 564355
Institutional Source Beutler Lab
Gene Symbol Efcab5
Ensembl Gene ENSMUSG00000050944
Gene Name EF-hand calcium binding domain 5
Synonyms 4930563A03Rik
MMRRC Submission 045318-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R7257 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 76980741-77079794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77028605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 242 (E242V)
Ref Sequence ENSEMBL: ENSMUSP00000118152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108400] [ENSMUST00000130901]
AlphaFold A0JP43
Predicted Effect probably damaging
Transcript: ENSMUST00000108400
AA Change: E378V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104037
Gene: ENSMUSG00000050944
AA Change: E378V

DomainStartEndE-ValueType
low complexity region 71 84 N/A INTRINSIC
low complexity region 210 219 N/A INTRINSIC
internal_repeat_1 250 352 2.42e-20 PROSPERO
internal_repeat_1 354 452 2.42e-20 PROSPERO
low complexity region 498 513 N/A INTRINSIC
coiled coil region 749 776 N/A INTRINSIC
GAF 877 1066 1.78e-2 SMART
low complexity region 1235 1245 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130901
AA Change: E242V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118152
Gene: ENSMUSG00000050944
AA Change: E242V

DomainStartEndE-ValueType
low complexity region 74 83 N/A INTRINSIC
internal_repeat_1 114 216 1.89e-19 PROSPERO
internal_repeat_1 218 316 1.89e-19 PROSPERO
low complexity region 362 377 N/A INTRINSIC
coiled coil region 613 640 N/A INTRINSIC
GAF 741 930 1.78e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,816,434 (GRCm39) V120E probably benign Het
Acot11 G A 4: 106,615,599 (GRCm39) T284M probably damaging Het
Adk G T 14: 21,102,739 (GRCm39) K11N probably damaging Het
Akr1c14 T A 13: 4,138,966 (GRCm39) N316K probably benign Het
AL732309.1 A T 2: 25,135,851 (GRCm39) V121D probably benign Het
Amh C A 10: 80,642,487 (GRCm39) Q257K probably benign Het
Antxrl T G 14: 33,787,806 (GRCm39) H276Q probably benign Het
Atp5po G A 16: 91,723,755 (GRCm39) T105M probably damaging Het
Atxn2 T G 5: 121,923,880 (GRCm39) N734K possibly damaging Het
B3gat3 T A 19: 8,903,102 (GRCm39) V153D probably benign Het
Brd2 A G 17: 34,332,796 (GRCm39) V528A probably damaging Het
Camk2g T C 14: 20,797,907 (GRCm39) S335G probably benign Het
Cbln2 T A 18: 86,734,859 (GRCm39) W211R probably damaging Het
Cry2 A T 2: 92,243,326 (GRCm39) I505N possibly damaging Het
Ddx55 T A 5: 124,698,784 (GRCm39) C249S possibly damaging Het
Dglucy A G 12: 100,808,997 (GRCm39) T232A probably damaging Het
Dhx32 A G 7: 133,361,206 (GRCm39) Y76H probably benign Het
Dmac2l T C 12: 69,788,443 (GRCm39) I114T probably damaging Het
Dock7 T A 4: 98,861,649 (GRCm39) N1356I unknown Het
Dock8 T A 19: 25,104,449 (GRCm39) N710K probably benign Het
Dync1i2 T A 2: 71,079,700 (GRCm39) N391K possibly damaging Het
Ect2 A G 3: 27,192,684 (GRCm39) S420P probably damaging Het
Fam83g T A 11: 61,575,579 (GRCm39) Y74N probably damaging Het
Fbxo34 T A 14: 47,738,329 (GRCm39) probably null Het
Flt4 A G 11: 49,516,836 (GRCm39) T208A probably benign Het
Fxyd5 T A 7: 30,734,576 (GRCm39) H183L unknown Het
Gpr150 T G 13: 76,204,585 (GRCm39) D120A probably benign Het
Grm7 A G 6: 110,623,079 (GRCm39) Y84C probably damaging Het
Ighmbp2 A G 19: 3,316,405 (GRCm39) S562P probably damaging Het
Itga7 A G 10: 128,780,282 (GRCm39) Y530C possibly damaging Het
Itpr3 T A 17: 27,337,535 (GRCm39) D2448E probably benign Het
Mmp17 C A 5: 129,672,697 (GRCm39) H216Q probably benign Het
Mns1 C T 9: 72,360,097 (GRCm39) R416W probably damaging Het
Mog A G 17: 37,334,019 (GRCm39) S25P unknown Het
Myh2 A G 11: 67,071,976 (GRCm39) K568R possibly damaging Het
Myh7 A T 14: 55,209,947 (GRCm39) probably null Het
Mymk A T 2: 26,957,380 (GRCm39) W79R probably damaging Het
Ncoa4 T G 14: 31,899,326 (GRCm39) L623R probably damaging Het
Oca2 G A 7: 55,929,286 (GRCm39) probably benign Het
Odam A C 5: 88,035,404 (GRCm39) S123R probably benign Het
Or14c39 T A 7: 86,344,012 (GRCm39) M116K probably damaging Het
Or2w1 A G 13: 21,317,427 (GRCm39) T161A probably benign Het
Or51f1d T C 7: 102,700,837 (GRCm39) F111L probably benign Het
Or5d16 A G 2: 87,773,915 (GRCm39) F19S probably damaging Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or6c8b C T 10: 128,882,324 (GRCm39) V203M probably benign Het
Ovch2 C T 7: 107,393,640 (GRCm39) C162Y probably damaging Het
Padi1 C A 4: 140,556,782 (GRCm39) G142C probably damaging Het
Pcdhga4 A G 18: 37,820,451 (GRCm39) I667V probably damaging Het
Pfas A T 11: 68,883,785 (GRCm39) V624E probably damaging Het
Phb1 A T 11: 95,568,917 (GRCm39) E184V probably damaging Het
Phlpp2 G T 8: 110,666,820 (GRCm39) M1116I probably benign Het
Pip5kl1 T C 2: 32,470,443 (GRCm39) probably null Het
Pitpnm2 T A 5: 124,263,419 (GRCm39) I824F possibly damaging Het
Pla2g4c G A 7: 13,059,669 (GRCm39) S2N possibly damaging Het
Pla2r1 A T 2: 60,257,969 (GRCm39) probably null Het
Pole2 T C 12: 69,249,684 (GRCm39) D521G probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rapgef2 A T 3: 78,989,934 (GRCm39) L931Q probably damaging Het
Rassf3 G A 10: 121,248,924 (GRCm39) Q206* probably null Het
Rnf123 T A 9: 107,946,228 (GRCm39) T316S probably damaging Het
Rnf138 T A 18: 21,141,750 (GRCm39) probably null Het
Septin3 G A 15: 82,173,414 (GRCm39) A249T probably damaging Het
Slc35a4 A T 18: 36,812,669 (GRCm39) D3V unknown Het
Sltm T A 9: 70,451,247 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Tcl1b1 A T 12: 105,130,790 (GRCm39) D91V probably damaging Het
Tirap A T 9: 35,100,330 (GRCm39) V118E probably damaging Het
Tlr5 T A 1: 182,801,798 (GRCm39) Y367* probably null Het
Tmcc1 A G 6: 116,084,299 (GRCm39) F5L probably benign Het
Tnxb A G 17: 34,935,475 (GRCm39) M2592V probably benign Het
Trim66 T A 7: 109,059,451 (GRCm39) E931V probably damaging Het
Ttn A G 2: 76,571,438 (GRCm39) I26485T probably damaging Het
Veph1 C A 3: 66,065,703 (GRCm39) V455L probably benign Het
Vmn1r125 A T 7: 21,006,750 (GRCm39) H216L probably damaging Het
Wdr17 T A 8: 55,085,522 (GRCm39) E1200D probably benign Het
Zbtb37 T A 1: 160,860,231 (GRCm39) N25Y probably damaging Het
Other mutations in Efcab5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00663:Efcab5 APN 11 77,027,862 (GRCm39) missense probably benign 0.04
IGL01343:Efcab5 APN 11 77,020,756 (GRCm39) missense probably damaging 1.00
IGL02190:Efcab5 APN 11 77,012,140 (GRCm39) missense probably benign 0.38
IGL02270:Efcab5 APN 11 76,995,139 (GRCm39) missense probably damaging 0.97
IGL02572:Efcab5 APN 11 77,028,714 (GRCm39) nonsense probably null
IGL02653:Efcab5 APN 11 77,022,848 (GRCm39) missense probably damaging 0.99
IGL02818:Efcab5 APN 11 76,996,174 (GRCm39) missense probably damaging 0.99
IGL03068:Efcab5 APN 11 76,994,927 (GRCm39) missense probably benign
IGL03222:Efcab5 APN 11 77,028,193 (GRCm39) missense probably benign 0.40
IGL03226:Efcab5 APN 11 77,028,501 (GRCm39) missense possibly damaging 0.92
IGL03257:Efcab5 APN 11 77,079,596 (GRCm39) missense probably damaging 0.99
PIT4131001:Efcab5 UTSW 11 77,028,517 (GRCm39)
PIT4418001:Efcab5 UTSW 11 77,022,877 (GRCm39) missense possibly damaging 0.89
R0276:Efcab5 UTSW 11 77,031,749 (GRCm39) missense probably damaging 1.00
R0276:Efcab5 UTSW 11 77,020,702 (GRCm39) missense probably damaging 1.00
R0277:Efcab5 UTSW 11 77,031,749 (GRCm39) missense probably damaging 1.00
R0284:Efcab5 UTSW 11 76,994,353 (GRCm39) intron probably benign
R0386:Efcab5 UTSW 11 77,063,204 (GRCm39) missense probably benign 0.30
R0386:Efcab5 UTSW 11 77,031,749 (GRCm39) missense probably damaging 1.00
R0966:Efcab5 UTSW 11 77,031,749 (GRCm39) missense probably damaging 1.00
R0968:Efcab5 UTSW 11 77,031,749 (GRCm39) missense probably damaging 1.00
R1433:Efcab5 UTSW 11 76,996,204 (GRCm39) missense probably benign 0.09
R1673:Efcab5 UTSW 11 77,042,679 (GRCm39) missense probably damaging 0.99
R1842:Efcab5 UTSW 11 77,025,701 (GRCm39) missense probably benign 0.00
R1848:Efcab5 UTSW 11 76,994,132 (GRCm39) missense probably damaging 1.00
R2069:Efcab5 UTSW 11 77,063,147 (GRCm39) missense probably benign 0.06
R3713:Efcab5 UTSW 11 77,007,008 (GRCm39) missense probably damaging 1.00
R4012:Efcab5 UTSW 11 77,008,656 (GRCm39) missense probably damaging 0.98
R4020:Efcab5 UTSW 11 76,994,930 (GRCm39) missense probably benign 0.33
R4391:Efcab5 UTSW 11 76,981,284 (GRCm39) missense probably damaging 0.99
R4392:Efcab5 UTSW 11 76,981,284 (GRCm39) missense probably damaging 0.99
R4692:Efcab5 UTSW 11 77,004,507 (GRCm39) missense probably damaging 1.00
R4929:Efcab5 UTSW 11 76,994,209 (GRCm39) missense probably benign 0.36
R4985:Efcab5 UTSW 11 77,029,055 (GRCm39) missense probably damaging 0.98
R4988:Efcab5 UTSW 11 77,028,078 (GRCm39) missense probably damaging 1.00
R5246:Efcab5 UTSW 11 77,079,671 (GRCm39) missense probably damaging 1.00
R5260:Efcab5 UTSW 11 77,028,477 (GRCm39) missense possibly damaging 0.92
R5387:Efcab5 UTSW 11 77,025,668 (GRCm39) missense possibly damaging 0.93
R5516:Efcab5 UTSW 11 77,079,615 (GRCm39) missense possibly damaging 0.62
R5535:Efcab5 UTSW 11 77,042,747 (GRCm39) missense probably damaging 1.00
R5694:Efcab5 UTSW 11 77,079,701 (GRCm39) missense probably benign 0.09
R5922:Efcab5 UTSW 11 77,079,570 (GRCm39) missense probably benign 0.44
R6030:Efcab5 UTSW 11 77,012,088 (GRCm39) missense probably damaging 1.00
R6030:Efcab5 UTSW 11 77,012,088 (GRCm39) missense probably damaging 1.00
R6183:Efcab5 UTSW 11 77,028,084 (GRCm39) missense probably benign 0.04
R6437:Efcab5 UTSW 11 77,028,728 (GRCm39) missense probably benign 0.25
R6442:Efcab5 UTSW 11 76,996,260 (GRCm39) nonsense probably null
R6592:Efcab5 UTSW 11 77,004,436 (GRCm39) missense possibly damaging 0.90
R6769:Efcab5 UTSW 11 76,996,258 (GRCm39) missense probably damaging 0.98
R7285:Efcab5 UTSW 11 77,029,041 (GRCm39) missense possibly damaging 0.49
R7285:Efcab5 UTSW 11 77,028,170 (GRCm39) missense probably benign
R7350:Efcab5 UTSW 11 77,028,387 (GRCm39) missense probably benign 0.05
R7369:Efcab5 UTSW 11 77,008,661 (GRCm39) missense possibly damaging 0.60
R7760:Efcab5 UTSW 11 77,042,752 (GRCm39) missense probably benign 0.31
R8213:Efcab5 UTSW 11 77,006,897 (GRCm39) missense probably damaging 1.00
R8690:Efcab5 UTSW 11 76,994,115 (GRCm39) missense probably damaging 0.98
R9294:Efcab5 UTSW 11 77,012,064 (GRCm39) missense probably benign 0.03
R9310:Efcab5 UTSW 11 77,004,531 (GRCm39) missense probably benign 0.23
R9324:Efcab5 UTSW 11 77,004,546 (GRCm39) missense possibly damaging 0.95
R9404:Efcab5 UTSW 11 77,022,934 (GRCm39) missense probably damaging 0.99
R9405:Efcab5 UTSW 11 77,022,934 (GRCm39) missense probably damaging 0.99
R9407:Efcab5 UTSW 11 77,022,934 (GRCm39) missense probably damaging 0.99
R9509:Efcab5 UTSW 11 76,994,977 (GRCm39) missense possibly damaging 0.94
R9562:Efcab5 UTSW 11 77,022,934 (GRCm39) missense probably damaging 0.99
R9651:Efcab5 UTSW 11 77,022,934 (GRCm39) missense probably damaging 0.99
R9748:Efcab5 UTSW 11 77,007,022 (GRCm39) nonsense probably null
X0061:Efcab5 UTSW 11 77,007,060 (GRCm39) missense probably damaging 1.00
Z1176:Efcab5 UTSW 11 77,022,965 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GACCCTCTCTGCTGAGTTTG -3'
(R):5'- AAGGGCCTCGCAAAACATCTG -3'

Sequencing Primer
(F):5'- AGTTTGTTCTACTGCCGAGC -3'
(R):5'- TCTGCTTCAAAACAAGGAGCAAG -3'
Posted On 2019-06-26